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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
37
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Autosomal recessive omodysplasia Pathogenic rs863223282, rs121908440 RCV000005888
RCV000005891
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTROCYTOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alzheimer`s Disease Alzheimer disease GWASDB_DG 23535033
★☆☆☆☆
Found in Text Mining only
Alzheimer`s Disease Alzheimer disease GWASCAT_DG 23535033
★☆☆☆☆
Found in Text Mining only
Atrial Septal Defects Atrial Septal Defect HPO_DG
★☆☆☆☆
Found in Text Mining only
Attention deficit hyperactivity disorder Attention Deficit Hyperactivity Disorder GWASCAT_DG 18839057
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Attention deficit hyperactivity disorder Attention Deficit Hyperactivity Disorder GWASDB_DG 18839057
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autosomal recessive omodysplasia Omodysplasia Orphanet
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Blepharophimosis Blepharophimosis HPO_DG
★☆☆☆☆
Found in Text Mining only
Bone Diseases Developmental Bone disease Pubtator 30982611 Associate
★☆☆☆☆
Found in Text Mining only
Bone Diseases, Developmental Bone Disease BEFREE 30982611
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 21871017
★☆☆☆☆
Found in Text Mining only