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)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
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)