Details for Gene ZFPM2

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 OLI669; OLI574; OLI1546; OLI927; OLI400; OLI1531
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 46,XY partial gonadal dysgenesis; Disorder of sex development; 46,XY disorder of sex development; Transposition of the great arteries

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