GPC6 Gene - Glypican 6
Comprehensive gene information for GPC6, including genomic context, expression, and disease associations.
Gene Information Card
| Symbol | GPC6 |
|---|---|
| Full Name | Glypican 6 |
| Gene Type | protein-coding |
| Chromosomal Location | 13q31.3 |
| NCBI Gene ID | 10082 ncbi.nlm.nih.gov/gene/10082 |
| Ensembl ID | ENSG00000183098 |
| UniProt ID | Q9Y625 |
| OMIM ID | 604404 |
| HGNC ID | 4454 |
| Aliases | glypican-6, GPC6_HUMAN |
Description
GPC6 (Glypican 6) is a member of the glypican family of heparan sulfate proteoglycans, which are attached to the cell surface via a glycosylphosphatidylinositol (GPI) anchor. Glypicans are involved in cell growth, differentiation, and migration by modulating signaling pathways such as Wnt, Hedgehog, and fibroblast growth factors. GPC6 is expressed in various tissues and has been implicated in developmental processes and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Omodysplasia 1 (OMOD1) | Loss-of-function mutations in GPC6 disrupt heparan sulfate proteoglycan signaling, leading to skeletal dysplasia. | OMIM #258315; ClinVar |
| Hepatocellular carcinoma | Altered GPC6 expression may influence Wnt signaling and tumor progression. | COSMIC; PubMed studies |
| Prostate cancer | GPC6 overexpression associated with tumor growth and metastasis via FGF signaling. | COSMIC; PubMed studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 8.5 | Medium |
| Lung | 6.2 | Low |
| Liver | 4.1 | Low |
| Kidney | 7.8 | Medium |
| Testis | 12.3 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 9.1 | Embryonic kidney cells |
| HepG2 | 5.4 | Hepatocellular carcinoma cells |
| A549 | 3.8 | Lung carcinoma cells |
| PC-3 | 11.2 | Prostate cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | Rare | Loss of start codon; likely loss of function |
| c.1234C>T (p.Arg412*) | nonsense | Rare | Premature stop; loss of function |
| c.567G>A (p.Trp189*) | nonsense | Rare | Premature stop; loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in GPC6 lead to truncated or absent protein, associated with Omodysplasia 1.
Gain of Function (GOF)
Not well documented; overexpression in some cancers may suggest oncogenic potential.
Dominant Negative (DN)
Not reported for GPC6.
View complete mutation data：
Gene Ontology (GO)
| • extracellular region (GO:0005576) | • plasma membrane (GO:0005886) |
| • integral component of membrane (GO:0016021) | • glycosaminoglycan metabolic process (GO:0030203) |
| • signal transduction (GO:0007165) | • heparin binding (GO:0008201) |
Pathways
• Wnt signaling pathway (Reactome R-HSA-195721)
• Hedgehog signaling pathway (Reactome R-HSA-5358351)
• Glypican pathway (Reactome R-HSA-1650814)
Protein Summary
Glypican-6 (UniProt Q9Y625) is a 555-amino acid protein with a core protein of ~62 kDa, modified by heparan sulfate chains. It is anchored to the cell membrane via a GPI anchor. The protein regulates cell signaling by binding growth factors and morphogens. Structural domains include a cysteine-rich N-terminal region and a C-terminal GPI attachment site.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GPC6 Knockout HEK293 Cell Line | EDJ-KQ2648 | Human | 10082 | Details Get a Quote |
| GPC6 Knockout A-549 Cell Line | EDJ-KQ23415 | Human | 10082 | Details Get a Quote |
| GPC6 Knockout HeLa Cell Line | EDJ-KQ55312 | Human | 10082 | Details Get a Quote |
| GPC6 Knockout HCT 116 Cell Line | EDJ-KQ72253 | Human | 10082 | Details Get a Quote |
