GIGYF2
Homo sapiens
Gene Name: GRB10 interacting GYF protein 2
Aliases: GYF2, PARK11, PERQ2, PERQ3, TNRC15
Chromosome No: 2
Chromosome Band: 2q37.1
Genetic Category: Rare single gene variant-
Aliases: GYF2, PARK11, PERQ2, PERQ3, TNRC15
Chromosome No: 2
Chromosome Band: 2q37.1
Genetic Category: Rare single gene variant-
Summary Statistics:
ASD Reports: 9
Recent Reports: 1
Annotated variants: 26
Associated CNVs: 7
Evidence score: 3
ASD Reports: 9
Recent Reports: 1
Annotated variants: 26
Associated CNVs: 7
Evidence score: 3
| Associated Disorders: |
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Relevance to Autism
Three de novo variants in the GIGYF2 gene (1 nonsense, 2 missense) have been identified in simplex ASD cases, with no de novo events in this gene observed in 1,786 unaffected siblings from the Simons Simplex Collection (P=3.40 x 10-4) (De Rubeis et al., 2014; Iossifov et al., 2014; Krumm et al., 2015).
Molecular Function
This gene contains CAG trinucleotide repeats and encodes a protein containing several stretches of polyglutamine residues. The encoded protein may be involved in the regulation of tyrosine kinase receptor signaling. This gene is located in a chromosomal region that was genetically linked to Parkinson disease type 11, and mutations in this gene were thought to be causative for this disease.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Synaptic, transcriptional and chromatin genes disrupted in autism.
ASD
Support
Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder.
ASD
Support
Association of rare missense variants in the second intracellular loop of NaV1.7 sodium channels with familial autism.
ASD
Support
De novo genic mutations among a Chinese autism spectrum disorder cohort.
ASD
Support
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Support
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
ASD, DD
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
GEN721R005
inframe_deletion
c.3042_3053del
p.Lys1015_Gln1018del
Unknown
Not maternal
GEN721R007
missense_variant
c.3669G>C
p.Gln1223His
Familial
Extended multiplex
Common
No Common Variants Available
