GPC6
  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
GPC6 (HGNC:4454) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
glypican 6
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
No aliases found
%HI
1.28(Read more about the DECIPHER Haploinsufficiency Index)
pLI
1(Read more about gnomAD pLI score)
LOEUF
0.39(Read more about gnomAD LOEUF score)
Cytoband
13q31.3-q32.1
Genomic Coordinates
GRCh37/hg19: chr13:93879060-95060274 NCBI Ensembl UCSC
GRCh38/hg38: chr13:93216529-94408020 NCBI Ensembl UCSC
MANE Select Transcript
NM_005708.5 ENST00000377047.9 (Read more about MANE Select)
Function
Cell surface proteoglycan that bears heparan sulfate. Putative cell surface coreceptor for growth factors, extracellular matrix proteins, proteases and anti-proteases (By similarity). Enhances migration and invasion of cancer cells through WNT5A signaling. {ECO:0000250, ECO:0000269|PubMed:21871017}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-9477
ClinGen Curation ID:
CCID:007238
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
11/17/2011

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • autosomal recessive omodysplasia Monarch
HI Evidence Comments:
Appears to be linked only to autosomal recessive omodysplasia (OMIM #258315) with compound heterozygous or homozygous mutations resulting in absence of a functional protein.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Published Evidence:
  • PUBMED: 19941983
    van der Zwaag (2010): Describes a larger (5.5 Mb) duplication including GPC6 and 10 others. Paper suggests that GPC6 and/or GPC5 may represent the critical duplicated gene(s) for the postaxial polydactyly type A2 phenotype(PAP-A2; OMIM 602085).
TS Evidence Comments:
No focal duplications in the literature for interpretation of significance. See van der Zwaag et al (2010) for description of larger duplication.

Genomic View

Select assembly: (NC_000013.10) (NC_000013.11)