GENE NAME | TSPAN12 |
CHROMOSOME | 7 |
ENSEMBL ID | ENSG00000106025 |
ENTREZ ID | 23554 |
UNIPROT ACCESSION NUMBER | O95859 |
GO MOLECULAR FUNCTION | protein binding |
ESSENTIAL IN MOUSE | Non-essential |
PATHWAYS | |
3 combinations linked to TSPAN12 | OLI453; OLI310; OLI311 |
3 variants linked to TSPAN12 | TSPAN12:c.194C>T, p.Pro65Leu; TSPAN12:c.535G>T, p.Asp179Tyr; TSPAN12:c.565T>C, p.Cys189Arg |
1 disease linked to TSPAN12 | Familial exudative vitreoretinopathy |