GRID2IP
Homo sapiens
Gene Name: Grid2 interacting protein
Aliases: tcag7.1041, DELPHILIN
Chromosome No: 7
Chromosome Band: 7p22.1
Genetic Category: Rare single gene variant
Aliases: tcag7.1041, DELPHILIN
Chromosome No: 7
Chromosome Band: 7p22.1
Genetic Category: Rare single gene variant
Summary Statistics:
ASD Reports: 5
Recent Reports: 0
Annotated variants: 7
Associated CNVs: 10
Evidence score: 2
ASD Reports: 5
Recent Reports: 0
Annotated variants: 7
Associated CNVs: 10
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
This gene was originally identified as an ASD candidate gene based on its enrichment in an autism-associated protein interaction module; sequencing of post-mortem brain tissue from 25 ASD cases resulted in the identification of significant non-synonymous variants in this gene with an expected false-positive rate at 0.1, confirming the involvement of this module with autism (Li et al., 2014).
Molecular Function
This gene encodes a postsynaptic scaffolding protein at the parallel fiber-Purkinje cell synapse, where it may serve to link GRID2 with actin cytoskeleton and various signaling molecules.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Integrated systems analysis reveals a molecular network underlying autism spectrum disorders.
ASD
Support
Characterization of the delta2 glutamate receptor-binding protein delphilin: Splicing variants with differential palmitoylation and an additional P...
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Support
Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder.
ASD