GNB1L
Homo sapiens
Gene Name: guanine nucleotide binding protein (G protein), beta polypeptide 1-like
Aliases: FKSG1, DGCRK3, GY2, WDR14, WDVCF
Chromosome No: 22
Chromosome Band: 22q11.21
Genetic Category: Rare Single Gene variant-Genetic association
Aliases: FKSG1, DGCRK3, GY2, WDR14, WDVCF
Chromosome No: 22
Chromosome Band: 22q11.21
Genetic Category: Rare Single Gene variant-Genetic association
Summary Statistics:
ASD Reports: 3
Recent Reports: 0
Annotated variants: 8
Associated CNVs: 8
Evidence score: 2
ASD Reports: 3
Recent Reports: 0
Annotated variants: 8
Associated CNVs: 8
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
Rare mutations in the GNB1L gene, including a translocation, duplications and missense variants, have been identified in patients with ASD (Chen et al., 2011).
Molecular Function
This gene encodes a G-protein beta-subunit-like polypeptide which is a member of the WD repeat protein family. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein contains 6 WD repeats and is highly expressed in the heart. Transcripts from this gene share exons with some transcripts from the C22orf29 gene.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Positive Association
A genome-wide investigation into parent-of-origin effects in autism spectrum disorder identifies previously associated genes including SHANK3.
ASD
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
GEN304C001
intron_variant
rs11704083
c.-21+1553T>C
Simons Simplex Collection (SSC) GWAS dataset consisting of 2591 simplex ASD families
Discovery
