GPC4
Homo sapiens
Gene Name: glypican 4
Aliases: K-glypican
Chromosome No: X
Chromosome Band: Xq26.2
Genetic Category: Rare single gene variant-
Aliases: K-glypican
Chromosome No: X
Chromosome Band: Xq26.2
Genetic Category: Rare single gene variant-
Summary Statistics:
ASD Reports: 2
Recent Reports: 1
Annotated variants: 2
Associated CNVs: 10
Evidence score: null
ASD Reports: 2
Recent Reports: 1
Annotated variants: 2
Associated CNVs: 10
Evidence score: null
| Associated Disorders: |
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Relevance to Autism
Previously unreported homozyous variants in the same human accelerated region (HAR) within an intron of the GPC4 gene were identified in individuals affected with ASD and ID from two unrelated consanguineous families; interaction data revealed interactions between this HAR and the GPC4 promoter in adult human brain tissue, and luciferase reporter assays demonstrated that both variants reduced regulatory activity in N2A cells (Doan et al., 2016).
Molecular Function
This gene encodes a cell surface proteoglycan that bears heparan sulfate and may be involved in the development of kidney tubules and of the central nervous system.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Mutations in Human Accelerated Regions Disrupt Cognition and Social Behavior.
ASD
Recent Recommendation
Astrocyte-Secreted Glypican 4 Regulates Release of Neuronal Pentraxin 1 from Axons to Induce Functional Synapse Formation.