Gene Gene information from NCBI Gene database.
Entrez ID 10082
Gene name Glypican 6
Gene symbol GPC6
Synonyms (NCBI Gene)
OMIMD1
Chromosome 13
Chromosome location 13q31.3-q32.1
Summary The glypicans comprise a family of glycosylphosphatidylinositol-anchored heparan sulfate proteoglycans, and they have been implicated in the control of cell growth and cell division. The glypican encoded by this gene is a putative cell surface coreceptor
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs863223282 C>- Pathogenic Genic upstream transcript variant, coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
350
miRTarBase ID miRNA Experiments Reference
MIRT044098 hsa-miR-361-5p CLASH 23622248
MIRT537100 hsa-miR-548u PAR-CLIP 22012620
MIRT537099 hsa-miR-7161-5p PAR-CLIP 22012620
MIRT537098 hsa-miR-32-3p PAR-CLIP 22012620
MIRT537097 hsa-miR-483-5p PAR-CLIP 22012620
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
18
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 28514442, 29162697, 33961781
GO:0005576 Component Extracellular region IEA
GO:0005634 Component Nucleus HDA 21630459
GO:0005796 Component Golgi lumen TAS
GO:0005886 Component Plasma membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604404 4454 ENSG00000183098
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y625
Protein name Glypican-6 [Cleaved into: Secreted glypican-6]
Protein 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
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01153 Glypican 13 554 Glypican Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed. High expression in fetal kidney and lung and lower expressions in fetal liver and brain. In adult tissues, very abundant in ovary, high levels also observed in liver, kidney, small intestine and colon. Not detected in
Sequence
Sequence length 555
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    A tetrasaccharide linker sequence is required for GAG synthesis
HS-GAG biosynthesis
HS-GAG degradation
Defective B4GALT7 causes EDS, progeroid type
Defective B3GAT3 causes JDSSDHD
Defective EXT2 causes exostoses 2
Defective EXT1 causes exostoses 1, TRPS2 and CHDS
Defective B3GALT6 causes EDSP2 and SEMDJL1
Retinoid metabolism and transport
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
147
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autosomal recessive omodysplasia Pathogenic rs863223282, rs121908440 RCV000005888
RCV000005891
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Uncertain significance rs184142888 RCV005893245
Clear cell carcinoma of kidney Uncertain significance rs201337600 RCV005917774
GPC6-related disorder Likely benign; Benign; Uncertain significance rs775977695, rs200925249, rs2502414352, rs1028533457, rs138275851, rs1296709144 RCV003941264
RCV003920044
RCV003919756
RCV003924680
RCV003975670
RCV004731092
Nonpapillary renal cell carcinoma Uncertain significance rs201337600 RCV005917773
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
13q deletion syndrome Associate 28393221
Abnormalities Drug Induced Associate 32019583
Bone Diseases Developmental Associate 30982611
Breast Neoplasms Associate 21871017, 24357546, 35265226
Carcinoma Endometrioid Associate 26399219
Carcinoma Ovarian Epithelial Associate 26399219
Cardiovascular Diseases Associate 28393221
Diabetes Mellitus Type 2 Associate 36182916
Epidermolysis Bullosa Dystrophica Associate 16185268
Heart Defects Congenital Associate 28393221