GENE NAME | GJA4 |
CHROMOSOME | 1 |
ENSEMBL ID | ENSG00000187513 |
ENTREZ ID | 2701 |
UNIPROT ACCESSION NUMBER | P35212 |
GO MOLECULAR FUNCTION | gap junction channel activity; protein binding |
ESSENTIAL IN MOUSE | Non-essential |
PATHWAYS | R-HSA-157858; R-HSA-190861; R-HSA-199991; R-HSA-5653656; R-HSA-190828 |
2 combinations linked to GJA4 | OLI1002; OLI996 |
1 variant linked to GJA4 | GJA4:c.727C>T, p.Arg243Trp |
2 diseases linked to GJA4 | Androgen insensitivity syndrome; 46,XY disorder of sex development |