GENE NAME | THBS2 |
CHROMOSOME | 6 |
ENSEMBL ID | ENSG00000186340 |
ENTREZ ID | 7058 |
UNIPROT ACCESSION NUMBER | P35442 |
GO MOLECULAR FUNCTION | calcium ion binding; heparin binding; protein binding; extracellular matrix structural constituent |
ESSENTIAL IN MOUSE | Non-essential |
PATHWAYS | R-HSA-5083635; R-HSA-9006934; hsa05165; R-HSA-3906995; hsa04145; hsa04512; hsa04510; R-HSA-5173214; R-HSA-162582; R-HSA-5668914; R-HSA-3781865; R-HSA-597592; hsa04151; R-HSA-1643685; hsa05144; R-HSA-186797; R-HSA-392499; R-HSA-5173105 |
1 combination linked to THBS2 | OLI1049 |
1 variant linked to THBS2 | THBS2:c.1183G>A, p.Val395Met |
1 disease linked to THBS2 | Primary ovarian failure |