Summary Statistics:
ASD Reports: 73
Recent Reports: 7
Annotated variants: 79
Associated CNVs: 9
Evidence score: 4
Gene Score: 3S
Relevance to Autism
Defects in this gene are associated with Pitt-Hopkins syndrome (PTHS) [MIM:610954]. Patients with Pitt-Hopkins syndrome frequently exhibit stereotypic hand and head movements (summarized in Peippo and Ignatius, 2012). More recently, evaluation of 10 Pitt-Hopkins syndrome patients with psychiatric examinations and neuropsychological measurements using a comprehensive assessment battery, including the Autism Diagnostic Interview-Revised (ADI-R), demonstrated that all participants displayed profound intellectual disability, severe impairments in social interactions, severe impairments in communication and language, and highly frequent stereotyped behavior, indicating that in classic Pitt-Hopkins syndrome the behavioral phenotype showed similarities to behaviors seen in ASD (Van Balkom et al., 2012). An intronic marker in TCF4 has demonstrated genome-wide association with schizophrenia in case-control meta-analyzes (PMIDs 19571808, 21791550). Two de novo loss-of-function variants in TCF4 have been identified in ASD probands from the Autism Sequencing Consortium (De Rubeis et al., 2014) and from a cohort of Chinese ASD probands (Guo et al., 2017). Maternally-inherited damaging missense variants in TCF4 were identified in two ASD probands from the Autism Clinical and Genetic Resources in China (ACGC) cohort in Wang et al., 2016. A second de novo protein-truncating variant in TCF4 in an ASD proband from the Autism Sequencing Consortium was reported in Satterstrom et al., 2020; subsequent TADA analysis of de novo variants from the Simons Simplex Collection and the Autism Sequencing Consortium and protein-truncating variants from iPSYCH in this report identified TCF4 as a candidate gene with a false discovery rate (FDR) between 0.01 and 0.05 (0.01 < FDR 0.05). Two additional de novo loss-of-function variants and three potentially damaging de novo missense variants in the TCF4 gene were reported in ASD probands from the MSSNG cohort and the SPARK cohort in Zhou et al., 2022; a two-stage analysis of rare de novo and inherited coding variants in 42,607 ASD cases, including 35,130 new cases from the SPARK cohort, in this report identified TCF4 as a gene reaching study-wide significance based on 5,754 constraint genes (P < 8.69E-06).
Molecular Function
This gene encodes transcription factor 4, a basic helix-loop-helix transcription factor that binds to the immunoglobulin enchancer Mu-E5/KE5-motif and is involved in the initiation of neuronal differentiation. Defects in this gene are associated with Pitt-Hopkins syndrome (PTHS) [MIM:610954], a syndrome characterized by mental retardation, wide mouth and distinctive facial features, and intermittent hyperventilation followed by apnea.
References
Primary
Development, cognition, and behaviour in Pitt-Hopkins syndrome.
Pitt-Hopkins syndrome
ASD
Positive Association
Irritability
Positive Association
Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection.
SCZ
Positive Association
Common variants at VRK2 and TCF4 conferring risk of schizophrenia.
SCZ
Positive Association
Common variants conferring risk of schizophrenia.
SCZ
Support
Large-scale discovery of novel genetic causes of developmental disorders.
DD
Microcephaly
Support
Functional consequences of TCF4 missense substitutions associated with Pitt-Hopkins syndrome, mild intellectual disability, and schizophrenia
Pitt-Hopkins syndrome, ID, schizophrenia
Support
Diagnostic Yields of Trio-WES Accompanied by CNVseq for Rare Neurodevelopmental Disorders.
Pitt-Hopkins syndrome
Support
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.
DD, hypotonia
Support
Integrating de novo and inherited variants in 42
ASD
Support
Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries.
DD
Support
Whole genome sequencing of 45 Japanese patients with intellectual disability
DD, ID
Support
Exome Pool-Seq in neurodevelopmental disorders.
DD
Hypotonia
Support
Pitt-Hopkins syndrome
Support
Synaptic, transcriptional and chromatin genes disrupted in autism.
ASD
Support
Prevalence and phenotypic impact of rare potentially damaging variants in autism spectrum disorder
ASD
Support
Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.
ASD
Support
De novo genic mutations among a Chinese autism spectrum disorder cohort.
ASD
Support
Psychiatric risk gene transcription factor 4 preferentially regulates cortical interneuron neurogenesis during early brain development
Support
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
ASD
Support
Daughterless, the Drosophila orthologue of TCF4, is required for associative learning and maintenance of the synaptic proteome
Support
Targeted sequencing and functional analysis reveal brain-size-related genes and their networks in autism spectrum disorders.
ASD
Support
Pitt-Hopkins syndrome
Support
De novo mutations in moderate or severe intellectual disability.
ID
Absent speech, hypotonia
Support
A single center experience with publicly funded clinical exome sequencing for neurodevelopmental disorders or multiple congenital anomalies
DD, ID
ASD, epilepsy/seizures
Support
Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes.
ASD
Support
Knockdown of the schizophrenia susceptibility gene TCF4 alters gene expression and proliferation of progenitor cells from the developing human neoc...
Support
The recurrent TCF4 missense variant p.(Arg389Cys) causes a neurodevelopmental disorder overlapping with but not typical for Pitt-Hopkins syndrome
DD, ID
Epilepsy/seizures
Support
TCF4 deletions in Pitt-Hopkins Syndrome.
Pitt-Hopkins syndrome
Support
Tcf4 is required for correct brain development during embryogenesis
Support
Using medical exome sequencing to identify the causes of neurodevelopmental disorders: experience of two clinical units and 216 patients.
ID
Support
ASD
DD, ID, epilepsy/seizures
Support
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.
ID
Support
Adult brain neurons require continual expression of the schizophrenia-risk gene Tcf4 for structural and functional integrity
Schizophrenia
Support
Pitt-Hopkins Syndrome: A Unique Case Study.
Pitt-Hopkins syndrome
ASD, ADHD
Support
Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability
ID
Support
Transcription Factor 4 loss-of-function is associated with deficits in progenitor proliferation and cortical neuron content
Pitt-Hopkins syndrome
Support
Disruption of the TCF4 gene in a girl with mental retardation but without the classical Pitt-Hopkins syndrome.
ID
Support
The diagnostic yield of intellectual disability: combined whole genome low-coverage sequencing and medical exome sequencing
ID
Support
Genomic diagnosis for children with intellectual disability and/or developmental delay.
ID
Support
Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10,362 consecutive cases.
ADHD
Support
Comprehensive genetic analysis confers high diagnostic yield in 16 Japanese patients with corpus callosum anomalies
Corpus callosum anomalies
DD, epilepsy/seizures
Support
Tcf4 regulates dendritic spine density and morphology in the adult brain.
Support
Epilepsy/seizures
DD
Support
Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disability.
ID
Support
Trio-based exome sequencing reveals a high rate of the de novo variants in intellectual disability
ID
Support
Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome).
Pitt-Hopkins syndrome
Support
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism
ASD
Support
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.
DD
Support
ADHD, ADD, SCZ, DD, ID
Support
Parent-child exome sequencing identifies a de novo truncating mutation in TCF4 in non-syndromic intellectual disability.
ID
Support
Confirming the contribution and genetic spectrum of de novo mutation in infantile spasms: Evidence from a Chinese cohort
Epilepsy/seizures
ASD, DD
Support
Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis.
ID
Stereotypic behavior
Support
Next-generation sequencing using a pre-designed gene panel for the molecular diagnosis of congenital disorders in pediatric patients.
DD
Microcephaly, absent speech
Support
Massively parallel reporter assays discover de novo exonic splicing mutants in paralogs of Autism genes
ASD
Support
Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic en...
Pitt-Hopkins syndrome
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Support
Neurodevelopmental models of transcription factor 4 deficiency converge on a common ion channel as a potential therapeutic target for Pitt Hopkins ...
Support
Depressive disorder, ID
Stereotypy
Support
Pitt-Hopkins Syndrome.
Pitt-Hopkins syndrome
Support
Genetic and phenotypic analysis of 101 patients with developmental delay or intellectual disability using whole-exome sequencing
DD
Support
The Psychiatric Risk Gene Transcription Factor 4 (TCF4) Regulates Neurodevelopmental Pathways Associated With Schizophrenia, Autism, and Intellectu...
Support
DD, epilepsy/seizures
Recent Recommendation
A common molecular signature in ASD gene expression: following Root 66 to autism.
Recent Recommendation
Systems genetics identifies a convergent gene network for cognition and neurodevelopmental disease.
Recent Recommendation
Low load for disruptive mutations in autism genes and their biased transmission.
ASD
Recent Recommendation
Analysis of the expression pattern of the schizophrenia-risk and intellectual disability gene TCF4 in the developing and adult brain suggests a rol...
Recent Recommendation
The schizophrenia- and autism-associated gene, transcription factor 4 regulates the columnar distribution of layer 2/3 prefrontal pyramidal neurons...
Recent Recommendation
Psychiatric Risk Gene Transcription Factor 4 Regulates Intrinsic Excitability of Prefrontal Neurons via Repression of SCN10a and KCNQ1.
Recent Recommendation
De Novo Synonymous Mutations in Regulatory Elements Contribute to the Genetic Etiology of Autism and Schizophrenia.
GEN592R001
translocation
De novo
Simplex
GEN592R002
translocation
De novo
Multiplex (monozygotic twins)
GEN592R003
stop_gained
c.469C>T
p.Arg157Ter
De novo
GEN592R004
copy_number_loss
Unknown
Unknown
GEN592R005
stop_gained
c.1180C>T
p.Gln394Ter
De novo
Simplex
GEN592R006
splice_site_variant
c.1171G>A
p.Glu391Lys
De novo
Simplex
GEN592R007
frameshift_variant
c.209_212del
p.Asn70MetfsTer10
De novo
Simplex
GEN592R008
stop_gained
c.520C>T
p.Arg174Ter
De novo
Simplex
GEN592R009
splice_site_variant
c.1487-5G>A
p.Arg495_Gly496insAla?
Unknown
Not maternal
Simplex
GEN592R010
frameshift_variant
2240+G(delC)
747-!
De novo
Simplex
GEN592R011
synonymous_variant
c.990G>A
p.Ser330=
De novo
Simplex
GEN592R012
missense_variant
c.1739G>A
p.Arg580Gln
Unknown
Unknown
GEN592R013
translocation
Familial
Multi-generational
GEN592R014
stop_gained
c.826C>T
p.Arg276Ter
De novo
GEN592R015
missense_variant
c.964G>A
p.Gly322Ser
Familial
Maternal
GEN592R016
missense_variant
c.836C>T
p.Pro279Leu
Familial
Maternal
GEN592R017
translocation
De novo
GEN592R018
frameshift_variant
c.119_127delinsCAAAG
p.Phe40SerfsTer7
De novo
GEN592R019
splice_site_variant
c.1489+1G>T
p.?
De novo
GEN592R020
stop_gained
c.158C>G
p.Ser53Ter
De novo
GEN592R021
stop_gained
c.1726C>T
p.Arg576Ter
De novo
GEN592R022
stop_gained
c.1153C>T
p.Arg385Ter
De novo
Simplex
GEN592R023
frameshift_variant
c.672delinsGG
p.Ser224ArgfsTer33
De novo
GEN592R024
missense_variant
c.850C>T
p.His284Tyr
Unknown
GEN592R025
missense_variant
c.2039G>A
p.Arg680His
De novo
GEN592R026
frameshift_variant
c.2263_2264del
p.Ser755LeufsTer57
De novo
GEN592R027
stop_gained
c.673C>T
p.Gln225Ter
De novo
Simplex
GEN592R028
splice_region_variant
c.1296G>A
p.Ser432=
De novo
GEN592R029
stop_gained
c.873C>A
p.Tyr291Ter
De novo
Multiplex
GEN592R030
splice_site_variant
c.990G>A
p.?
De novo
Simplex
GEN592R031
frameshift_variant
c.1662del
p.Thr555ProfsTer9
De novo
Simplex
GEN592R032
missense_variant
c.1705C>T
p.Leu569Phe
De novo
Simplex
GEN592R033
stop_gained
c.1726C>T
p.Arg576Ter
De novo
Simplex
GEN592R034
missense_variant
c.1733G>A
p.Arg578His
De novo
Simplex
GEN592R035
missense_variant
c.1841C>T
p.Ala614Val
De novo
Simplex
GEN592R036
stop_gained
c.1927G>T
p.Glu643Ter
De novo
Simplex
GEN592R037
frameshift_variant
c.1627del
p.Ser543GlnfsTer15
De novo
GEN592R038
copy_number_loss
Familial
Paternal
Simplex
GEN592R039
stop_gained
c.193G>T
p.Glu65Ter
Familial
Paternal
Simplex
GEN592R040
frameshift_variant
c.7dup
p.Ser3PhefsTer2
Familial
Paternal
Simplex
GEN592R041
splice_site_variant
c.1182T>G
p.Asp394Glu
De novo
GEN592R042
stop_gained
c.237G>A
p.Trp79Ter
Familial
Maternal
Multiplex (monozygotic twins)
GEN592R043
stop_gained
c.1726C>T
p.Arg576Ter
De novo
Simplex
GEN592R044
stop_gained
c.1153C>T
p.Arg385Ter
De novo
GEN592R045
missense_variant
c.1738C>T
p.Arg580Trp
De novo
Simplex
GEN592R046
stop_gained
c.1726C>T
p.Arg576Ter
De novo
Simplex
GEN592R047
missense_variant
c.482T>C
p.Leu161Pro
De novo
Simplex
GEN592R048
missense_variant
c.1730A>G
p.Glu577Gly
De novo
Simplex
GEN592R049
missense_variant
c.1805C>T
p.Thr602Ile
De novo
Simplex
GEN592R050
splice_site_variant
c.1146+1G>A
De novo
Simplex
GEN592R051
stop_gained
c.2032C>T
p.Arg678Ter
Unknown
GEN592R052
missense_variant
c.2045G>A
p.Arg682Gln
De novo
GEN592R053
missense_variant
c.2045G>A
p.Arg682Gln
De novo
GEN592R054
missense_variant
c.1165C>T
p.Arg389Cys
De novo
Simplex
GEN592R055
missense_variant
c.1165C>T
p.Arg389Cys
De novo
Simplex
GEN592R056
missense_variant
c.1165C>T
p.Arg389Cys
De novo
Simplex
GEN592R057
missense_variant
c.1165C>T
p.Arg389Cys
De novo
Simplex
GEN592R058
missense_variant
c.1165C>T
p.Arg389Cys
De novo
Simplex
GEN592R059
missense_variant
c.1165C>T
p.Arg389Cys
Unknown
Simplex
GEN592R060
missense_variant
c.2045G>A
p.Arg682Gln
De novo
Simplex
GEN592R061
missense_variant
c.187C>T
p.Pro63Ser
De novo
Simplex
GEN592R062
splice_site_variant
c.1572A>G
p.Gln524%3D
De novo
GEN592R063
missense_variant
c.2147C>T
p.Ala716Val
De novo
GEN592R064
missense_variant
c.1705C>T
p.Leu569Phe
De novo
GEN592R065
splice_site_variant
c.549+2T>G
De novo
GEN592R066
frameshift_variant
c.632_633insAT
p.Phe211LeufsTer24
Unknown
GEN592R067
splice_site_variant
c.369+1G>T
Unknown
GEN592R068
copy_number_loss
Unknown
GEN592R069
missense_variant
c.1849G>A
p.Val617Ile
Familial
Paternal
Multiplex
GEN592R070
splice_site_variant
c.2185+1G>A
p.?
De novo
GEN592R071
stop_gained
c.2182C>T
p.Arg728Ter
De novo
Simplex
GEN592R072
missense_variant
c.1165C>T
p.Arg389Cys
De novo
GEN592R073
stop_gained
c.469C>T
p.Arg157Ter
Unknown
Unknown
GEN592R074
missense_variant
c.655G>C
p.Asp219His
De novo
GEN592R075
missense_variant
c.2045G>A
p.Arg682Gln
Unknown
Multiplex
GEN592C001
intron_variant
rs9960767
c.146-23634T>G;c.452-23634T>G;c.74-23634T>G;c.140-23634T>G;c.19+22808T>G;c.560-23634T>G;c.416-23634T
SGENE-plus + follow-up + ISC + MGS (12,945 cases; 34,591 controls)
Discovery
GEN592C002
intron_variant
rs9960767
c.146-23634T>G;c.452-23634T>G;c.74-23634T>G;c.140-23634T>G;c.19+22808T>G;c.560-23634T>G;c.416-23634T
SGENE-plus + ISC + MGS and all follow-up (18 206 cases; 42 536 controls)
Replication
GEN592C003
intergenic_variant
rs5825114
G>GA
40,675 SCZ cases and 64,643 controls (CLOZUK and independent PGC datasets)
Discovery
GEN592C003
intron_variant
rs10503002
c.304+19048G>A;c.232+19048G>A;c.178+19048G>A;c.610+19048G>A
105,975 cases with self-reported irritability and 273,531 controls (all of European ancestry) from the UK Biobank
Discovery
18
Deletion-Duplication
14
18
Deletion-Duplication
10
Summary Statistics:
# of Reports: 2
# of Models: 5
External Links
Model Summary
Tcf4 knockdown and knockout models show reduced action potential spike frequency, increased expression of ion channels Kcnq1 and Scn10a. Antagonists of these channels rescue action potential spike frequency deficits.
References
Primary
Neurodevelopmental models of transcription factor 4 deficiency converge on a common ion channel as a potential therapeutic target for Pitt Hopkins ...
Additional
Perturbed Wnt signaling leads to neuronal migration delay, altered interhemispheric connections and impaired social behavior.
Model Type:
Genetic
Model Genotype:
Homozygous
Mutation:
Tcf4 gene expression was knocked down in the medial prefrontal cortex. Two shRNA constructs targeting Tcf4 were separately transfected by in utero electroporation to knock down expression in later 2/3 pyramidal neurons of developing embryos. One shRNA targeted a common 3' exon in all isoforms and the other targeted a common 3' UTR, and both resulted in significant reduction of TCF4 protein.
Allele Type: Knockdown
Strain of Origin: Not Specified
Genetic Background: Not Specified
ES Cell Line:
Mutant ES Cell Line:
Model Source:
Model Type:
Genetic
Model Genotype:
Homozygous
Mutation:
CRISPR-Cas9 construct targeted Tcf4.
Allele Type: Knockout
Strain of Origin: Not Specified
Genetic Background: Not Specified
ES Cell Line:
Mutant ES Cell Line:
Model Source:
Model Type:
Genetic
Model Genotype:
Transgenic
Mutation:
In utero electroporation at E18 of dominant negative Tcf4.
Allele Type: Dominant negative
Strain of Origin:
Genetic Background: Wistar
ES Cell Line:
Mutant ES Cell Line:
Model Source: Charles River
Decreased
View More
Description: Knockdown rats showed clear reduction in spike frequency compared to shRNA controls.
Exp Paradigm: Whole-cell patch clamp
Whole-cell patch clamp
Unreported
Increased
View More
Description: Translation of two ion channels, Kcnq1 and Scn10a, were found to be significantly upregulated in the knockdown condition.
Exp Paradigm: Translating ribosome affinity purification was achieved by co-expression of EGFP-fused L10a ribosomal protein along with shRNA construct during in utero electroporation. Transfected mPFC tissue from P21 animals was affinity purified to isolate mRNA associated with active translation.
Polysome profiling
3 weeks
Not Reported:
Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior
Decreased
View More
Description: Knockout rats showed clear reduction in spike frequency compared to controls.
Exp Paradigm: Whole-cell patch clamp
Whole-cell patch clamp
Unreported
Not Reported:
Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior
Neuronal morphology: axonal structure1
Abnormal
View More
Description: No change in neuronal gross morphology
Confocal microscopy
Decreased
View More
Description: Decreased neuronal migration at P#
Confocal microscopy
P3
Self grooming: perseveration1
Increased
View More
Description: Increased self-grooming
General observations
Decreased
View More
Description: Decreased interaction in reciprocal test
Three-chamber social approach test
Decreased
View More
Description: Decrease preference for a social stimulus.
Three-chamber social approach test
Decreased
View More
Description: Decreased preference for a social target that is familiar
Three-chamber social approach test
Decreased
View More
Description: Decrease in Wnt signalling.
Luciferase reporter assay
Decreased
View More
Description: Rat overexpressing dnTCF4 show decreased attachment of neurons to radial glia during neuronal migration in early development.
Confocal microscopy
Dendritic architecture: dendritic tree complexity1
No change
Confocal microscopy
No change
Confocal microscopy
No change
Confocal microscopy
P7
Neuronal morphology: axonal structure1
No change
Confocal microscopy
Not Reported:
Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Motor phenotype, Neurophysiology, Physiological parameters, Seizure, Sensory
Summary Statistics:
Total Interactions: 167
Total Publications: 7
Show all nodes
Hide non-ASD
Interactor Symbol
Interactor Name
Interactor Organism
Entrez ID
Uniprot ID
Interaction Type
Evidence
Reference
AES
amino-terminal enhancer of split
166
Q08117
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
AQP1
aquaporin 1 (Colton blood group)
358
P29972
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
ARFGAP2
ADP-ribosylation factor GTPase activating protein 2
84364
B4DX29
IP; LC-MS/MS
Huttlin EL , et al. 2015
ARHGEF1
Rho guanine nucleotide exchange factor (GEF) 1
9138
Q92888
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
ARMC7
armadillo repeat containing 7
79637
Q9H6L4
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
ASCL4
achaete-scute family bHLH transcription factor 4
121549
Q6XD76
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
ASPSCR1
alveolar soft part sarcoma chromosome region, candidate 1
79058
Q9BZE9
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
BCAS2
breast carcinoma amplified sequence 2
10286
B2R7W3
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
BCL2L2
BCL2-like 2
599
Q92843
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
BZRAP1
benzodiazapine receptor (peripheral) associated protein 1
9256
O95153
Y2H
Corominas R , et al. 2014
C19ORF66
chromosome 19 open reading frame 66
55337
Q9NUL5
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
C1ORF109
chromosome 1 open reading frame 109
54955
Q9NX04
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
C9ORF171
chromosome 9 open reading frame 171
389799
Q6ZQR2
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
CABP5
calcium binding protein 5
56344
Q9NP86
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
CBFA2T3
core-binding factor, runt domain, alpha subunit 2; translocated to, 3
863
O75081
IP; LC-MS/MS
Huttlin EL , et al. 2015
CCDC101
coiled-coil domain containing 101
112869
Q96ES7
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
CCDC101
coiled-coil domain containing 101
112869
Q96ES7
IP; LC-MS/MS
Huttlin EL , et al. 2015
CDKN1A
cyclin-dependent kinase inhibitor 1A (p21, Cip1)
1026
P38936
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
CDKN2C
cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)
1031
P42773
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
CHAF1A
chromatin assembly factor 1, subunit A (p150)
10036
Q13111
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
CHCHD2
KIT
51142
Q9Y6H1
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
CHD8
chromodomain helicase DNA binding protein 8
57680
Q9HCK8
CHIP-seq
Cotney J , et al. 2015
CHIC2
cysteine-rich hydrophobic domain 2
26511
Q9UKJ5
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
CKS1B
CDC28 protein kinase regulatory subunit 1B
1163
P61024
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
CTBP1
C-terminal binding protein 1
1487
Q13363
Y2H
Corominas R , et al. 2014
CTNNB1
catenin (cadherin-associated protein), beta 1, 88kDa
1499
Q9WU82
X-ray crystallography
Graham TA , et al. 2001
DDX6
DEAD (Asp-Glu-Ala-Asp) box helicase 6
1656
P26196
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
DEF6
differentially expressed in FDCP 6 homolog (mouse)
50619
Q9H4E7
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
DGCR6
DiGeorge syndrome critical region gene 6
8214
Q14129
Y2H
Corominas R , et al. 2014
DMRT3
doublesex and mab-3 related transcription factor 3
58524
Q9NQL9
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
EFHC1
EF-hand domain (C-terminal) containing 1
114327
B2CKC5
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
EIF4E2
eukaryotic translation initiation factor 4E family member 2
9470
O60573
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
EIF4EBP1
eukaryotic translation initiation factor 4E binding protein 1
1978
Q13541
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
EPB41L3
erythrocyte membrane protein band 4.1-like 3
23136
Q9Y2J2
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
EPHB6
EPH receptor B6
2051
J3KQU5
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
EXOSC1
exosome component 1
51013
Q9Y3B2
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
FAH
fumarylacetoacetate hydrolase (fumarylacetoacetase)
2184
P16930
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
FAM124B
Protein FAM124B
79843
Q9H5Z6
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
FAM74A4
family with sequence similarity 74, member A4
401508
Q5TZK3
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
FERD3L
Fer3-like bHLH transcription factor
222894
Q96RJ6
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
FERD3L
Fer3-like bHLH transcription factor
222894
Q96RJ6
IP; LC-MS/MS
Huttlin EL , et al. 2015
FLAD1
FAD1 flavin adenine dinucleotide synthetase homolog (S. cerevisiae)
80308
Q8NFF5
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
FLJ32679
440321
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
FLNA
filamin A, alpha
2316
P21333
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
FRS3
fibroblast growth factor receptor substrate 3
10817
O43559
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
GEM
GTP binding protein overexpressed in skeletal muscle
2669
A0A024R9F5
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
GLRX3
glutaredoxin 3
10539
O76003
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
GNG10
guanine nucleotide binding protein (G protein), gamma 10
2790
A0A024R156
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
GOLGA8EP
golgin A8 family, member E, pseudogene
390535
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
GORASP2
golgi reassembly stacking protein 2, 55kDa
26003
Q9H8Y8
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
GUCD1
Protein GUCD1
83606
Q96NT3
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
HAND2
heart and neural crest derivatives expressed 2
9464
P61296
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
HAT1
histone acetyltransferase 1
8520
O14929
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
HEXIM2
hexamethylene bis-acetamide inducible 2
124790
Q96MH2
IP; LC-MS/MS
Huttlin EL , et al. 2015
HMG20A
high mobility group 20A
10363
Q9NP66
IP; LC-MS/MS
Huttlin EL , et al. 2015
ID1
inhibitor of DNA binding 1, dominant negative helix-loop-helix protein
3397
P41134
IP; LC-MS/MS
Huttlin EL , et al. 2015
ID2
inhibitor of DNA binding 2, dominant negative helix-loop-helix protein
3398
Q02363
IP; LC-MS/MS
Huttlin EL , et al. 2015
ID3
inhibitor of DNA binding 3, dominant negative helix-loop-helix protein
3399
Q02535
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
ID3
inhibitor of DNA binding 3, dominant negative helix-loop-helix protein
3399
Q02535
IP; LC-MS/MS
Huttlin EL , et al. 2015
ID4
inhibitor of DNA binding 4, dominant negative helix-loop-helix protein
3400
P47928
IP; LC-MS/MS
Huttlin EL , et al. 2015
INS
insulin
3630
I3WAC9
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
KCTD14
potassium channel tetramerization domain containing 14
65987
Q9BQ13
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
KIAA0182
Gse1 coiled-coil protein
23199
Q14687
IP; LC-MS/MS
Huttlin EL , et al. 2015
KLC3
kinesin light chain 3
147700
Q6P597
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
KLHL32
kelch-like family member 32
114792
Q96NJ5
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
LASP1
LIM and SH3 protein 1
NM_006148
B4DIC4
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
LENG1
leukocyte receptor cluster (LRC) member 1
NM_024316
Q96BZ8
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
LGALS14
lectin, galactoside-binding, soluble, 14
56891
Q8TCE9
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
LMO1
LIM domain only 1 (rhombotin 1)
4004
P25800
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
LMO4
LIM domain only 4
8543
P61968
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
LNPEP
leucyl/cystinyl aminopeptidase
4012
Q9UIQ6
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
MAD2L2
MAD2 mitotic arrest deficient-like 2 (yeast)
10459
Q9UI95
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
MAGOHB
mago-nashi homolog B (Drosophila)
55110
Q96A72
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
MAPKBP1
mitogen-activated protein kinase binding protein 1
NM_001128608
O60336
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
MATN3
matrilin 3
4148
O15232
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
MEMO1
mediator of cell motility 1
51072
Q9Y316
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
MESP2
Mesoderm posterior protein 2
145873
Q0VG99
IP; LC-MS/MS
Huttlin EL , et al. 2015
MLLT6
myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6
4302
P55198
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
MORN4
MORN repeat containing 4
118812
A6XB87
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
MRFAP1L1
Morf4 family associated protein 1-like 1
114932
Q96HT8
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
MRPL10
mitochondrial ribosomal protein L10
124995
Q7Z7H8
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
MSRB3
methionine sulfoxide reductase B3
253827
Q8IXL7
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
MVP
major vault protein
9961
Q14764
Y2H
Corominas R , et al. 2014
MYF6
myogenic factor 6 (herculin)
4618
P23409
IP; LC-MS/MS
Huttlin EL , et al. 2015
MYO5B
myosin VB
4645
Q9ULV0
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
MYOG
myogenin (myogenic factor 4)
4656
P15173
IP; LC-MS/MS
Huttlin EL , et al. 2015
NCK2
NCK adaptor protein 2
8440
O43639
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
NDOR1
NADPH dependent diflavin oxidoreductase 1
27158
Q9UHB4
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
NEK6
NIMA-related kinase 6
10783
Q9HC98
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
NEK8
NIMA-related kinase 8
284086
Q86SG6
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
NEU4
sialidase 4
129807
B3KR54
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
NEUROD1
Neurogenic differentiation factor 1
4760
Q13562
IP; LC-MS/MS
Huttlin EL , et al. 2015
NEUROG1
neurogenin 1
4762
F1T0H3
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
NEUROG3
Neurogenin-3
50674
Q9Y4Z2
IP; LC-MS/MS
Huttlin EL , et al. 2015
NME7
NME/NM23 family member 7
29922
Q9Y5B8
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
NMUR2
neuromedin U receptor 2
56923
Q9GZQ4
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
NOL9
nucleolar protein 9
79707
Q5SY16
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
NR2C2AP
nuclear receptor 2C2-associated protein
126382
Q86WQ0
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
NUDT10
nudix (nucleoside diphosphate linked moiety X)-type motif 10
170685
Q8NFP7
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
ORC4
origin recognition complex, subunit 4
5000
O43929
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
OSGIN1
oxidative stress induced growth inhibitor 1
29948
Q9UJX0
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
OTUD4
OTU domain containing 4
54726
Q01804
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
PARK2
parkinson protein 2, E3 ubiquitin protein ligase (parkin)
5071
O60260
Y2H
Corominas R , et al. 2014
PATE1
prostate and testis expressed 1
160065
Q8WXA2
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
PBLD
Phenazine biosynthesis-like domain-containing protein
64081
P30039
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
PIN1
peptidylprolyl cis/trans isomerase, NIMA-interacting 1
5300
Q13526
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
PLEKHN1
pleckstrin homology domain containing, family N member 1
84069
Q494U1
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
POLR1A
polymerase (RNA) I polypeptide A, 194kDa
25885
O95602
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
POLR1C
polymerase (RNA) I polypeptide C, 30kDa
9533
O15160
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
PPIA
peptidylprolyl isomerase A (cyclophilin A)
5478
P62937
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
PPIL1
peptidylprolyl isomerase (cyclophilin)-like 1
51645
Q9Y3C6
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
PPP1R18
protein phosphatase 1, regulatory subunit 18
170954
Q6NYC8
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
PRKAA2
protein kinase, AMP-activated, alpha 2 catalytic subunit
5563
P54646
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
PRKAB2
protein kinase, AMP-activated, beta 2 non-catalytic subunit
5565
O43741
Y2H
Corominas R , et al. 2014
PSMA1
proteasome (prosome, macropain) subunit, alpha type, 1
5682
P25786
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
PSMG2
proteasome (prosome, macropain) assembly chaperone 2
56984
Q969U7
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
PTGER3
prostaglandin E receptor 3 (subtype EP3)
5733
P43115
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
RAB41
RAB41, member RAS oncogene family
347517
Q5JT25
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
RABIF
RAB interacting factor
5877
P47224
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
RECK
reversion-inducing-cysteine-rich protein with kazal motifs
8434
A8K9D8
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
RELA
v-rel reticuloendotheliosis viral oncogene homolog A (avian)
5970
Q04206
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
REXO1L6P
REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 6, pseudogene
441362
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
RSPH14
rhabdoid tumor deletion region gene 1
27156
Q9UHP6
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
RUNX1T1
runt-related transcription factor 1; translocated to, 1 (cyclin D-related)
862
B2R6I9
IP; LC-MS/MS
Huttlin EL , et al. 2015
SCOC
short coiled-coil protein
60592
Q9UIL1
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
SEC14L4
SEC14-like 4 (S. cerevisiae)
284904
B2RMR2
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
SIGLEC6
sialic acid binding Ig-like lectin 6
946
O43699
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
SLC39A13
solute carrier family 39 (zinc transporter), member 13
91252
Q96H72
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
SLC4A1AP
solute carrier family 4 (anion exchanger), member 1, adaptor protein
22950
Q9BWU0
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
SMCP
sperm mitochondria-associated cysteine-rich protein
4184
P49901
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
SMOC1
SPARC related modular calcium binding 1
64093
Q9H4F8
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
SPATC1L
spermatogenesis and centriole associated 1-like
84221
Q9H0A9
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
SPG21
spastic paraplegia 21 (autosomal recessive, Mast syndrome)
51324
Q9NZD8
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
SRSF2
serine/arginine-rich splicing factor 2
6427
Q01130
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
STAMBPL1
STAM binding protein-like 1
57559
Q96FJ0
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
STK16
serine/threonine kinase 16
8576
O75716
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
STX11
syntaxin 11
8676
O75558
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
SZT2
seizure threshold 2 homolog (mouse)
23334
Q5T011
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
TAL2
T-cell acute lymphocytic leukemia 2
6887
Q16559
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
TAPBPL
TAP binding protein-like
55080
Q9BX59
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
TCEA2
transcription elongation factor A (SII), 2
6919
Q15560
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
TCF12
transcription factor 12
6938
Q99081
IP; LC-MS/MS
Huttlin EL , et al. 2015
TCF24
Transcription factor 24
100129654
Q7RTU0
IP; LC-MS/MS
Huttlin EL , et al. 2015
TCF3
transcription factor 3
6929
P15923
IP; LC-MS/MS
Huttlin EL , et al. 2015
TMEM213
transmembrane protein 213
155006
A2RRL7
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
TRAPPC2L
trafficking protein particle complex 2-like
51693
Q9UL33
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
TSSC4
tumor suppressing subtransferable candidate 4
10078
Q9Y5U2
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
TSSK3
testis-specific serine kinase 3
81629
Q96PN8
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
TWIST1
twist homolog 1 (Drosophila)
7291
Q15672
IP; LC-MS/MS
Huttlin EL , et al. 2015
TWIST2
twist family bHLH transcription factor 2
117581
A0A024R4D4
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
TWIST2
twist family bHLH transcription factor 2
117581
A0A024R4D4
IP; LC-MS/MS
Huttlin EL , et al. 2015
TXNL4B
thioredoxin-like 4B
NM_001142318
Q9NX01
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
UTP23
UTP23, small subunit (SSU) processome component, homolog (yeast)
84294
Q9BRU9
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
VPS28
vacuolar protein sorting 28 homolog (S. cerevisiae)
51160
Q548N1
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
ZDHHC24
zinc finger, DHHC-type containing 24
254359
Q6UX98
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
ZNF124
zinc finger protein 124
7678
Q15973
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
ZNF205-AS1
ZNF205 antisense RNA 1
81854
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
ZNF417
zinc finger protein 417
147687
Q8TAU3
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
ZNF587
zinc finger protein 587
84914
G3V0H5
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
Nrxn1
neurexin 1
18189
Q9CS84
ChIP-qPCR
D'Rozario M , et al. 2016
Kcnq1
potassium voltage-gated channel subfamily Q member 1
84020
Q9Z0N7
ChIP-Seq; TRAP
Rannals MD , et al. 2016
Kcnq4
potassium voltage-gated channel subfamily Q member 4
298496
Q9JK96
ChIP-Seq
Rannals MD , et al. 2016
Scn10a
sodium voltage-gated channel alpha subunit 10
29571
Q62968
ChIP-Seq; TRAP
Rannals MD , et al. 2016