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Relevance to Autism

De novo variants in this gene were identified in two separate reports using ASD probands from the Simons Simplex Collection (Sanders et al. 2012a, 2012b)

Molecular Function

This gene encodes a member of the protein-tyrosine phosphatase family. However, the encoded protein does not appear to be a catalytically active phosphatase because it lacks several amino acids in the catalytic pocket. This protein contains a Guanine nucleotide exchange factor (GEF) domain which is necessary for its role in growth and differentiation.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
ASD
Support
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.
ASD
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Support
Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype-phenotype c...
ASD
Support
Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.
ASD
Support
Comprehensive molecular testing in patients with high functioning autism spectrum disorder.
ASD
Support
Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.
Charcot-Marie-Tooth syndrome
Microcephaly
Support
Synaptic, transcriptional and chromatin genes disrupted in autism.
ASD
Recent Recommendation
Low load for disruptive mutations in autism genes and their biased transmission.
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN473R001 
 missense_variant 
 c.3079A>G 
 p.Thr1027Ala 
 De novo 
  
 Simplex 
 GEN473R002 
 missense_variant 
 c.2083C>T 
 p.Arg695Trp 
 De novo 
  
 Simplex 
 GEN473R003 
 stop_gained 
 c.730C>T 
 p.Gln244Ter 
 Familial 
 Maternal 
 Simplex 
 GEN473R004 
 missense_variant;missense_variant 
 c.[1327G>A];[1327G>A] 
 p.[Asp443Asn];[Asp443Asn] 
 Familial 
 Both parents 
 Multiplex 
 GEN473R005 
 missense_variant 
 c.3385G>A 
 p.Asp1129Asn 
 De novo 
  
  
 GEN473R006 
 missense_variant 
 c.3010G>A 
 p.Ala1004Thr 
 De novo 
  
  
 GEN473R007 
 missense_variant 
  
 p.Asp1619Glu 
 Familial 
 Maternal 
 Multi-generational 
 GEN473R008 
 missense_variant 
 c.2195G>A 
 p.Arg732His 
 Familial 
 Paternal 
 Simplex 
 GEN473R009 
 stop_gained 
 c.1180G>T 
 p.Glu394Ter 
 De novo 
  
  
 GEN473R010 
 missense_variant 
 C>T 
  
 De novo 
  
 Multiplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
22
Duplication
 1
 
22
Duplication
 2
 
22
Deletion-Duplication
 9
 
22
Deletion
 2
 
22
Deletion-Duplication
 16
 
22
Deletion-Duplication
 22
 
22
Duplication
 24
 
22
Deletion-Duplication
 56
 

No Animal Model Data Available


Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
C1ORF186 Uncharacterized protein C1orf186 440712 Q6ZWK4 IP; LC-MS/MS
Huttlin EL , et al. 2015
CDH5 Cadherin-5 1003 P33151 IP; LC-MS/MS
Huttlin EL , et al. 2015
CHD8 chromodomain helicase DNA binding protein 8 57680 Q9HCK8 CHIP-seq
Cotney J , et al. 2015
EFNB2 ephrin-B2 1948 P52799 IP; LC-MS/MS
Huttlin EL , et al. 2015
GFOD1 glucose-fructose oxidoreductase domain containing 1 54438 Q9NXC2 IP; LC-MS/MS
Huttlin EL , et al. 2015
HAVCR2 Hepatitis A virus cellular receptor 2 84868 Q8TDQ0 IP; LC-MS/MS
Huttlin EL , et al. 2015
HENMT1 Small RNA 2'-O-methyltransferase 113802 Q5T8I9 IP; LC-MS/MS
Huttlin EL , et al. 2015
LRRC4C leucine rich repeat containing 4C 57689 Q9HCJ2 IP; LC-MS/MS
Huttlin EL , et al. 2015
LZTS2 leucine zipper, putative tumor suppressor 2 84445 Q9BRK4 IP; LC-MS/MS
Huttlin EL , et al. 2015
PIP4K2A phosphatidylinositol-5-phosphate 4-kinase, type II, alpha 5305 P48426 IP; LC-MS/MS
Huttlin EL , et al. 2015
RAB6B Ras-related protein Rab-6B 51560 Q9NRW1 IP; LC-MS/MS
Huttlin EL , et al. 2015
SELE E-selectin 6401 P16581 IP; LC-MS/MS
Huttlin EL , et al. 2015
SKAP1 Src kinase-associated phosphoprotein 1 8631 Q86WV1-2 IP; LC-MS/MS
Huttlin EL , et al. 2015
SSSCA1 Sjogren syndrome/scleroderma autoantigen 1 10534 O60232 IP; LC-MS/MS
Huttlin EL , et al. 2015
TGFBR2 transforming growth factor, beta receptor II (70/80kDa) 7048 P37173 IP; LC-MS/MS
Huttlin EL , et al. 2015
TOP3B topoisomerase (DNA) III beta 8940 O95985 HITS-CLIP
Xu D , et al. 2013
MIB1 mindbomb E3 ubiquitin protein ligase 1 307594 D3ZUV2 Affinity chromatography; LC-MS/MS
Mertz J , et al. 2015

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