| Gene Symbol |
NR5A2
|
| Entrez Gene |
2494
|
| Alt Symbol |
B1F, B1F2, CPF, FTF, FTZ-F1, FTZ-F1beta, LRH-1, LRH1, hB1F-2
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
nuclear receptor subfamily 5, group A, member 2
|
| Other Description |
CYP7A promoter-binding factor|alpha-1-fetoprotein transcription factor|b1-binding factor, hepatocyte transcription factor which activates enhancer II of hepatitis B virus|fetoprotein-alpha 1 (AFP) transcription factor|hepatocytic transcription factor hB1F-3|liver nuclear receptor homolog-1 variant 2|liver receptor homolog 1|liver receptor homolog-1|nuclear receptor NR5A2|nuclear receptor subfamily 5 group A member 2
|
| Swissprots |
Q147U3 O95642 B4E2P3 O00482
|
| Accessions |
AAG17124 AAG17125 AAL37171 ACD87739 EAW91305 EAW91306 EAW91307 EAW91308 O00482 AB019246 BAA34092 AB307719 BAH02310 AF049102 AAD03248 AF112344 AF124247 AAD26565 AF124248 AAD26566 AF146343 AAD37378 AF228413 AK304344 BAG65188 AK304365 BAG65205 AK308446 AK316513 BAH14884 BC027893 BC118571 AAI18572 BC118652 AAI18653 CA776772 CB162803 HQ692857 ADZ17368 U80251 AAC78727 U93553 AAD03155 XM_005245062 XP_005245119 XM_011509380 XP_011507682 XM_011509381 XP_011507683 XM_011509382 XP_011507684 XM_011509383 XP_011507685 XM_011509384 XP_011507686 NM_001276464 NP_001263393 NM_003822 NP_003813 NM_205860 NP_995582
|
| Function |
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.
|
| Subcellular Location |
Nucleus {ECO:0000305}.
|
| Tissue Specificity |
Abundantly expressed in pancreas, less in liver, very low levels in heart and lung. Expressed in the Hep-G2 cell line. Isoform 1 and isoform 2 seem to be present in fetal and adult liver and Hep-G2 cells.
|
| Top Pathways |
Maturity onset diabetes of the young
|