GPC6
Homo sapiens
Gene Name: glypican 6
Aliases: OMIMD1
Chromosome No: 13
Chromosome Band: 13q31.3-q32.1
Genetic Category: Rare Single Gene variant-Genetic association
Aliases: OMIMD1
Chromosome No: 13
Chromosome Band: 13q31.3-q32.1
Genetic Category: Rare Single Gene variant-Genetic association
Summary Statistics:
ASD Reports: 8
Recent Reports: 2
Annotated variants: 14
Associated CNVs: 23
Evidence score: null
ASD Reports: 8
Recent Reports: 2
Annotated variants: 14
Associated CNVs: 23
Evidence score: null
| Associated Disorders: |
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Relevance to Autism
Rare variants in the GPC6 gene have been identified with autism (Pinto et al., 2010). In particular, that study found two individuals with deletions and one individual with a duplication that involve GPC6.
Molecular Function
A member of glycosylphosphatidylinositol-anchored heparan sulfate proteoglycan family with a putative function of cell surface coreceptor for growth factors, extracellular matrix proteins, proteases and anti-proteases.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Functional impact of global rare copy number variation in autism spectrum disorders.
ASD
Positive Association
Genome-wide Association Study of Autism Spectrum Disorder in the East Asian Populations.
ASD
Support
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
ASD
Support
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
ASD
Highly Cited
GPC6, a novel member of the glypican gene family, encodes a product structurally related to GPC4 and is colocalized with GPC5 on human chromosome 13.
Highly Cited
Glypican-6, a new member of the glypican family of cell surface heparan sulfate proteoglycans.
Recent Recommendation
An interstitial duplication of chromosome 13q31.3q32.1 further delineates the critical region for postaxial polydactyly type A2.
Recent Recommendation
Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia.
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
GEN106C001
intron_variant
rs7317246
c.161-146590C>T
68 informative Japanese ASD families
Discovery
GEN106C002
intron_variant
rs10508003
c.161-116368A>G
73 informative Japanese ASD families
Discovery
GEN106C003
intron_variant
rs16952683
c.161-117422G>A;c.161-117422G>C
74 informative Japanese ASD families
Discovery
GEN106C004
intron_variant
rs16952683
c.161-117422G>A;c.161-117422G>C
205 Japanese ASD probands, 184 Japanese controls
Replication
GEN106C005
intron_variant
rs11619994
c.161-111707G>A
73 informative Japanese ASD families
Discovery
GEN106C006
intron_variant
rs7994743
c.161-110733G>T
73 informative Japanese ASD families
Discovery
GEN106C007
intron_variant
rs7994743
c.161-110733G>T
205 Japanese ASD probands, 184 Japanese controls
Replication
GEN106C008
intron_variant
rs8000712
c.161-88262G>A;c.-51+6255G>A;c.-51+1563G>A
73 informative Japanese ASD families
Discovery
GEN106C009
intron_variant
rs8000712
c.161-88262G>A;c.-51+6255G>A;c.-51+1563G>A
205 Japanese ASD probands, 184 Japanese controls
Replication
