GPC3 (glypican 3)

Gene
Gene SNPs Other IDs Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2719
Gene name Gene Name - the full gene name approved by the HGNC.
Glypican 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GPC3
Synonyms (NCBI Gene) Gene synonyms aliases
DGSX, GTR2-2, MXR7, OCI-5, SDYS, SGB, SGBS, SGBS1
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xq26.2
Summary Summary of gene provided in NCBI Entrez Gene.
Cell surface heparan sulfate proteoglycans are composed of a membrane-associated protein core substituted with a variable number of heparan sulfate chains. Members of the glypican-related integral membrane proteoglycan family (GRIPS) contain a core protei
SNPs SNP information provided by dbSNP.
Gene SNPs Other IDs Associated diseases
Show/Hide all(26)
SNP ID Visualize variation Clinical significance Consequence
rs104894854 A>T Pathogenic Coding sequence variant, missense variant
rs104894855 G>A Pathogenic Coding sequence variant, stop gained
rs122453119 G>A Pathogenic Coding sequence variant, missense variant
rs122453120 C>T Pathogenic Coding sequence variant, missense variant, genic downstream transcript variant
rs122453121 G>A Pathogenic Coding sequence variant, stop gained
miRNA miRNA information provided by mirtarbase database.
Gene SNPs Other IDs Associated diseases
Show/Hide all(10)
miRTarBase ID miRNA Experiments Reference
MIRT006231 hsa-miR-219a-5p Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot 22449976
MIRT006231 hsa-miR-219a-5p Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot 22449976
MIRT006231 hsa-miR-219a-5p Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot 22449976
MIRT006231 hsa-miR-219a-5p Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot 22449976
MIRT006231 hsa-miR-219a-5p Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot 22449976
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Other IDs Associated diseases
Show/Hide all(63)
GO ID Ontology Definition Evidence Reference
GO:0001658 Process Branching involved in ureteric bud morphogenesis IEA
GO:0001822 Process Kidney development IEA
GO:0005515 Function Protein binding IPI 17549790, 29162697, 39822733
GO:0005764 Component Lysosome IEA
GO:0005788 Component Endoplasmic reticulum lumen TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Other IDs Associated diseases
MIM HGNC e!Ensembl
300037 4451 ENSG00000147257
Protein
Gene SNPs Other IDs Associated diseases
UniProt ID P51654
Protein name Glypican-3 (GTR2-2) (Intestinal protein OCI-5) (MXR7) [Cleaved into: Glypican-3 alpha subunit; Glypican-3 beta subunit]
Protein function Cell surface proteoglycan (PubMed:14610063). Negatively regulates the hedgehog signaling pathway when attached via the GPI-anchor to the cell surface by competing with the hedgehog receptor PTC1 for binding to hedgehog proteins (By similarity).
PDB 7ZA1 , 7ZAW
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01153 Glypican 14 → 578 Glypican Family
Tissue specificity TISSUE SPECIFICITY: Detected in placenta (at protein level) (PubMed:32337544). Highly expressed in lung, liver and kidney. {ECO:0000269|PubMed:32337544, ECO:0000269|PubMed:8589713}.
Sequence
Sequence length 580
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs Other IDs Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Simpson-Golabi-Behmel Syndrome Simpson-Golabi-Behmel syndrome type 1 rs267606850, rs886039908, rs869025181, rs104894854, rs1569426054, rs869025182, rs104894855, rs753210097, rs869025183, rs122453121 N/A
Wilms Tumor Wilms tumor 1 rs122453121, rs1556297749, rs1569392947, rs1569408743, rs104894855, rs122453119, rs1603240717, rs1602581162, rs2071072322 N/A
Show/Hide Unknown Diseases (4)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Cleft Lip With Or Without Cleft Palate Cleft lip with or without cleft palate N/A N/A GWAS
Insomnia Insomnia N/A N/A GWAS
Mental retardation intellectual disability N/A N/A ClinVar
ovarian cancer Ovarian cancer N/A N/A ClinVar
Show/Hide Text Mining Associations (108)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Abnormalities Drug Induced Associate 32019583
Adenocarcinoma Associate 21623236, 23348905
Adenocarcinoma Clear Cell Associate 19329941
Adenocarcinoma Mucinous Stimulate 25619476
Adenocarcinoma Mucinous Associate 36676710
Adenocarcinoma of Lung Associate 26345955, 34112123, 34580602, 35710585, 37960765
Adenocarcinoma Scirrhous Associate 23348905
Beckwith Wiedemann Syndrome Associate 23169491
Breast Neoplasms Associate 11454708, 12819009, 29935166, 33742285, 35587107, 36676710
Breast Neoplasms Inhibit 30267212