GENE NAME | SLC7A9 |
CHROMOSOME | 19 |
ENSEMBL ID | None |
ENTREZ ID | ENSG00000021488 |
UNIPROT ACCESSION NUMBER | P82251 |
GO MOLECULAR FUNCTION | ['L-cystine transmembrane transporter activity', 'L-amino acid transmembrane transporter activity', 'protein binding', 'neutral amino acid transmembrane transporter activity', 'peptide antigen binding'] |
ESSENTIAL IN MOUSE | Non-essential |
PATHWAYS | hsa04974; R-HSA-109582; R-HSA-1643685; R-HSA-202733; R-HSA-210991; R-HSA-352230; R-HSA-382551; R-HSA-425393; R-HSA-425407; R-HSA-5619102; R-HSA-5619113; R-HSA-5619115; R-HSA-5660883 |
6 combinations linked to SLC7A9 | OLI178; OLI180; OLI181; OLI1612; OLI166; OLI179 |
4 variants linked to SLC7A9 | SLC7A9:c.789+2T>C, ; SLC7A9:c.311G>A, p.Gly105Arg; SLC7A9:c.695A>G, p.Tyr232Cys; SLC7A9:c.829G>A, p.Val277Met |
2 diseases linked to SLC7A9 | Dent disease; Cystinuria |