GPC3 glypican 3
Gene ID: 2719, updated on 2-Nov-2024Gene type: protein coding
Also known as: SGB; DGSX; MXR7; SDYS; SGBS; OCI-5; SGBS1; GTR2-2
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- Go to complete Gene record for GPC3
- Go to Variation Viewer for GPC3 variants
Summary
Cell surface heparan sulfate proteoglycans are composed of a membrane-associated protein core substituted with a variable number of heparan sulfate chains. Members of the glypican-related integral membrane proteoglycan family (GRIPS) contain a core protein anchored to the cytoplasmic membrane via a glycosyl phosphatidylinositol linkage. These proteins may play a role in the control of cell division and growth regulation. The protein encoded by this gene can bind to and inhibit the dipeptidyl peptidase activity of CD26, and it can induce apoptosis in certain cell types. Deletion mutations in this gene are associated with Simpson-Golabi-Behmel syndrome, also known as Simpson dysmorphia syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Common variants in left/right asymmetry genes and pathways are associated with relative hand skill. GeneReviews: Not available | |
| Simpson-Golabi-Behmel syndrome type 1 MedGen: C0796154OMIM: 312870GeneReviews: Simpson-Golabi-Behmel Syndrome Type 1, Wilms Tumor Predisposition | See labs |
| Wilms tumor 1 MedGen: CN033288OMIM: 194070GeneReviews: Wilms Tumor Predisposition, PAX6-Related Aniridia, WT1 Disorder | See labs |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2021-01-27) ClinGen Genome Curation PageHaploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2021-01-27) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- Xq26.2
- Sequence:
- Chromosome: X; NC_000023.11 (133535745..133985594, complement)
- Total number of exons:
- 11
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for GPC3 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- GPC3 database
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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