DISEASES

Disease-gene associations mined from literature

Literature associating NR5A2 and testicular Leydig cell tumor

NR5A2 [ENSP00000356331]

Nuclear receptor subfamily 5, group A, member 2; Binds to the sequence element 5'-AACGACCGACCTTGAG-3' of the enhancer II of hepatitis B virus genes, a critical cis-element of their expression and regulation. May be responsible for the liver-specific activity of enhancer II, probably in combination with other hepatocyte transcription factors. Key regulator of cholesterol 7-alpha-hydroxylase gene (CYP7A) expression in liver. May also contribute to the regulation of pancreas-specific genes and play important roles in embryonic development; Belongs to the nuclear hormone receptor family. NR5 subfamily.

Synonyms:  NR5A2,  NR5A2p,  hNR5A2,  B1F3,  E9PQH2 ...

Linkouts:  STRING  Pharos  UniProt  OMIM