Details for Gene GPC3

GENE NAME GPC3
CHROMOSOME X
ENSEMBL ID None
ENTREZ ID ENSG00000147257
UNIPROT ACCESSION NUMBER P51654
GO MOLECULAR FUNCTION ['peptidyl-dipeptidase inhibitor activity', 'protein binding']
ESSENTIAL IN MOUSE Essential
PATHWAYS hsa05205; hsa05205; R-HSA-1430728; R-HSA-162582; R-HSA-1630316; R-HSA-1638091; R-HSA-1643685; R-HSA-1793185; R-HSA-196854; R-HSA-1971475; R-HSA-2022928; R-HSA-2024096; R-HSA-2187338; R-HSA-3560782; R-HSA-3560783; R-HSA-3560801; R-HSA-3656237; R-HSA-3656253; R-HSA-372790; R-HSA-3781865; R-HSA-381426; R-HSA-388396; R-HSA-392499; R-HSA-418594; R-HSA-4420332; R-HSA-5668914; R-HSA-597592; R-HSA-6806667; R-HSA-71387; R-HSA-8957275; R-HSA-975634; hsa05205
2 combinations linked to GPC3 OLI1562; OLI1581
2 variants linked to GPC3 GPC3:c.1354G>A, p.Val452Met; GPC3:c.1709A>G, p.Asn570Ser
1 disease linked to GPC3 Syndrome with 46,XY disorder of sex development

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