GENE NAME | ZFPM2 |
CHROMOSOME | 8 |
ENSEMBL ID | None |
ENTREZ ID | ENSG00000169946 |
UNIPROT ACCESSION NUMBER | Q8WW38 |
GO MOLECULAR FUNCTION | ['zinc ion binding', 'transcription coactivator activity', 'DNA binding', 'RNA polymerase II-specific DNA-binding transcription factor binding', 'protein binding', 'transcription corepressor activity'] |
ESSENTIAL IN MOUSE | Essential |
PATHWAYS | hsa05206; R-HSA-109582; R-HSA-1266738; R-HSA-9690406; R-HSA-983231 |
6 combinations linked to ZFPM2 | OLI1531; OLI669; OLI1546; OLI927; OLI574; OLI400 |
5 variants linked to ZFPM2 | ZFPM2:c.2107A>C, p.Met703Leu; ZFPM2:c.302G>A, p.Gly101Glu; ZFPM2:c.1632G>A, p.Met544Ile; ZFPM2:c.2534C>T, p.Thr845Met; ZFPM2:c.3055G>T, p.Ala1019Ser |
4 diseases linked to ZFPM2 | Transposition of the great arteries; Disorder of sex development; 46,XY disorder of sex development; 46,XY partial gonadal dysgenesis |