HELP     Sign In
Search

Relevance to Autism

An in-frame deletion variant in PHF8 was found to segregate with high-functioning autism without other clinical features in a multiplex ASD family (Nava et al., 2012).

Molecular Function

The protein encoded by this gene is a histone lysine demethylase that preferentially acts on histones in the monomethyl or dimethyl states. The encoded protein requires Fe(2+) ion, 2-oxoglutarate, and oxygen for its catalytic activity. The protein has an N-terminal PHD finger and a central Jumonji C domain. This gene is thought to function as a transcription activator. Defects in this gene are a cause of syndromic X-linked Siderius type intellectual disability (MRXSSD).

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE.
ASD
ID
Support
Screening of mutations in the PHF8 gene and identification of a novel mutation in a Finnish family with XLMR and cleft lip/cleft palate.
ID
Support
A loss-of-function variant in SUV39H2 identified in autism-spectrum disorder causes altered H3K9 trimethylation and dysregulation of protocadherin β-cluster genes in the developing brain
ASD
Support
A novel mutation in the PHF8 gene is associated with X-linked mental retardation with cleft lip/cleft palate.
ID
Support
A recurrent PJA1 variant in trigonocephaly and neurodevelopmental disorders
ASD, DD
Support
Targeted Next-Generation Sequencing in Patients with Suggestive X-Linked Intellectual Disability.
ID
Support
Characterization of intellectual disability and autism comorbidity through gene panel sequencing.
ID, ASD or autistic traits
Support
Large-scale discovery of novel genetic causes of developmental disorders.
DD, ADHD
Microcephaly
Support
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.
ID
Highly Cited
Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate.
ID
Recent Recommendation
JMJD-1.2/PHF8 controls axon guidance by regulating Hedgehog-like signaling.

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN456R001 
 inframe_deletion 
 c.2904_2906del 
 p.Ser969del 
 Familial 
 Maternal 
 Multiplex 
 GEN456R002 
 splice_site_variant 
 del(ACAGGTCTTCCC) 
  
 Familial 
 Maternal 
 Multi-generational 
 GEN456R003 
 stop_gained 
 c.631C>T 
 p.Arg211Ter 
 Familial 
 Maternal 
 Multi-generational 
 GEN456R004 
 stop_gained 
 c.529T>A 
 p.Ser177Thr 
 De novo 
 NA 
  
 GEN456R005 
 missense_variant 
 c.836C>T 
 p.Phe279Ser 
 Familial 
 Maternal 
 Multiplex 
 GEN456R006 
 frameshift_variant 
 c.738dup 
 p.Arg247SerfsTer17 
 Familial 
 Maternal 
 Multi-generational 
 GEN456R007 
 splice_site_variant 
 c.1249+5G>C 
  
 Familial 
 Maternal 
 Simplex 
 GEN456R008 
 missense_variant 
 c.2794T>C 
 p.Cys932Arg 
 Familial 
 Maternal 
  
 GEN456R009 
 stop_gained 
 c.252C>A 
 p.Tyr84Ter 
 Familial 
 Maternal 
 Simplex 
 GEN456R010 
 missense_variant 
 c.2972A>G 
 p.Asn991Ser 
 Familial 
 Maternal 
 Simplex 
 GEN456R011 
 missense_variant 
 c.*1112G>C 
  
 Familial 
 Maternal 
  
 GEN456R012 
 missense_variant 
 c.*1101G>A 
  
 Unknown 
  
  
 GEN456R013 
 missense_variant 
 c.2475G>C 
 p.Glu825Asp 
 Unknown 
  
  
 GEN456R014 
 missense_variant 
 c.2239G>A 
 p.Glu747Lys 
 Familial 
 Maternal 
  
 GEN456R015 
 missense_variant 
 c.264C>A 
 p.Asn88Lys 
 Unknown 
  
  
 GEN456R016 
 missense_variant 
 c.124G>T 
 p.Val42Leu 
 Familial 
 Maternal 
  

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
X
Deletion-Duplication
 24
 
X
Duplication
 1
 
X
Duplication
 1
 
X
Duplication
 1
 
X
Deletion
 1
 
X
Deletion
 4
 
X
Deletion-Duplication
 1
 
X
Deletion
 1
 
X
Deletion-Duplication
 18
 

No Animal Model Data Available


Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
ANAPC1 anaphase promoting complex subunit 1 64682 Q9H1A4 TAP; MS; IP/WB
Lim HJ , et al. 2013
ANAPC2 anaphase promoting complex subunit 2 29882 Q9UJX6 TAP; MS; IP/WB
Lim HJ , et al. 2013
ANAPC4 anaphase promoting complex subunit 4 29945 Q9UJX5 TAP; MS; IP/WB
Lim HJ , et al. 2013
ANAPC5 anaphase promoting complex subunit 5 51433 Q9UJX4 TAP; MS; IP/WB
Lim HJ , et al. 2013
ANAPC7 anaphase promoting complex subunit 7 51434 Q9UJX3 TAP; MS; IP/WB
Lim HJ , et al. 2013
APP amyloid beta (A4) precursor protein 351 P05067 Protein microarray
Olh J , et al. 2011
ASH2L ash2 (absent, small, or homeotic)-like (Drosophila) 9070 Q9UBL3 IP/WB
Feng W , et al. 2010
CCNA2 cyclin A2 890 P20248 IP; LC-MS/MS
Huttlin EL , et al. 2015
CDC16 cell division cycle 16 8881 Q13042 TAP; MS; IP/WB
Lim HJ , et al. 2013
CDC20 cell division cycle 20 991 Q12834 TAP; MS; IP/WB
Lim HJ , et al. 2013
CDC23 cell division cycle 23 8697 Q9UJX2 TAP; MS; IP/WB
Lim HJ , et al. 2013
CDC26 cell division cycle 26 246184 Q8NHZ8 TAP; MS; IP/WB
Lim HJ , et al. 2013
CDC27 cell division cycle 27 996 G3V1C4 TAP; MS; IP/WB
Lim HJ , et al. 2013
CHD8 chromodomain helicase DNA binding protein 8 57680 Q9HCK8 ChIP-chip
Subtil-Rodrguez A , et al. 2013
Dlg4 DLG4discs, large homolog 4 (Drosophila) 1742 P78352 Peptide microarray
Arbuckle MI , et al. 2010
FMR1 fragile X mental retardation 1 2332 G8JLE9 PAR-CLIP
Ascano M Jr , et al. 2012
FZR1 fizzy/cell division cycle 20 related 1 (Drosophila) 51343 Q9UM11 TAP; MS; IP/WB
Lim HJ , et al. 2013
HCFC1 host cell factor C1 (VP16-accessory protein) 3054 P51610 ChIP; IP/WB
Liu W , et al. 2010
HIST1H3A histone cluster 1, H3a 8350 P68431 IP/WB
Feng W , et al. 2010
HIST1H4A histone cluster 1, H4a 8359 B2R4R0 GST; IP/WB
Qi HH , et al. 2010
HIST3H3 histone cluster 3, H3 8290 Q16695 MS
Bartke T , et al. 2010
MAGEA10 Melanoma-associated antigen 10 4109 P43363 IP; LC-MS/MS
Huttlin EL , et al. 2015
MAML1 mastermind-like 1 (Drosophila) 9794 Q92585 ChIP; IP/WB
Yatim A , et al. 2012
NOTCH1 notch 1 4851 P46531 MS
Yatim A , et al. 2012
PHF8 PHD finger protein 8 23133 Q9UPP1 TAP; MS; IP/WB
Lim HJ , et al. 2013
POLR2A polymerase (RNA) II (DNA directed) polypeptide A, 220kDa 5430 P24928 ChIP; IP/WB
Fortschegger K , et al. 2010
POLR2C polymerase (RNA) II (DNA directed) polypeptide C, 33kDa 5432 P19387 ChIP; IP/WB
Fortschegger K , et al. 2010
RARA retinoic acid receptor, alpha 5914 P10276 FRET
Qiu J , et al. 2010
RBPJ recombination signal binding protein for immunoglobulin kappa J region 3516 Q06330 ChIP; IP/WB
Yatim A , et al. 2012
RPAP1 RNA polymerase II associated protein 1 26015 Q9BWH6 LC-MS/MS
Jeronimo C , et al. 2007
SUMO1 SMT3 suppressor of mif two 3 homolog 1 (S. cerevisiae) 7341 P63165 LC-MS/MS
Matafora V , et al. 2009
SUMO2 SMT3 suppressor of mif two 3 homolog 2 (S. cerevisiae) 6613 P61956 MS
Ouyang J , et al. 2009
UBC ubiquitin C 7316 P63279 LC-MS/MS
Danielsen JM , et al. 2010
WDR5 WD repeat domain 5 609012 N/A IP/WB
Feng W , et al. 2010
ZNF711 zinc finger protein 711 7552 Q6PK66 IP/WB
Kleine-Kohlbrecher D , et al. 2010

HELP
Copyright © 2017 MindSpec, Inc.