NR5A2 - nuclear receptor subfamily 5 group A member 2 Gene

Also Known as B1F; CPF; FTF; B1F2; LRH1; LRH-1; FTZ-F1; hB1F-2; FTZ-F1beta

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 2494

About NR5A2

Cytogenetic location: 1q32.1 Genomic coordinates (GRCh38): 1:200,027,710-200,177,415 (from NCBI)

This gene has 6 transcripts (splice variants), 231 orthologues and 1 paralogue. Biased expression in liver (RPKM 6.4), small intestine (RPKM 5.8) and 13 other tissues.

Summary

The protein encoded by this gene is a DNA-binding zinc finger transcription factor and is a member of the fushi tarazu factor-1 subfamily of orphan nuclear receptors. The encoded protein is involved in the expression of genes for hepatitis B virus and Cholesterol biosynthesis, and may be an important regulator of embryonic development. [provided by RefSeq, Jun 2016]

NR5A2 Products (3)

mRNA Protein Name
NM_001276464.2 NP_001263393.1 nuclear receptor subfamily 5 group A member 2 isoform 3
NM_003822.5 NP_003813.1 nuclear receptor subfamily 5 group A member 2 isoform 2
NM_205860.3 NP_995582.1 nuclear receptor subfamily 5 group A member 2 isoform 1
Molecular Function GO Annotation Evidence References Source
enables DNA binding IDA
IDA: Inferred from direct assay
16289203 GOA
enables DNA-binding transcription factor activity IDA
IDA: Inferred from direct assay
15205472 GOA
enables nuclear receptor activity IDA
IDA: Inferred from direct assay
15205472 GOA
enables phospholipid binding IDA
IDA: Inferred from direct assay
15723037 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
12040021 GOA
enables sequence-specific DNA binding IDA
IDA: Inferred from direct assay
16289203 GOA
enables sequence-specific double-stranded DNA binding IDA
IDA: Inferred from direct assay
28473536 GOA
enables transcription cis-regulatory region binding IDA
IDA: Inferred from direct assay
15205472 GOA
enables transcription coregulator binding IPI
IPI: Inferred from physical interaction
14701856 GOA
Biological Process GO Annotation Evidence References Source
involved in positive regulation of DNA-templated transcription IDA
IDA: Inferred from direct assay
15143342 GOA
involved in positive regulation of transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
15205472 GOA
involved in positive regulation of viral genome replication IDA
IDA: Inferred from direct assay
19264593 GOA
involved in regulation of DNA-templated transcription IDA
IDA: Inferred from direct assay
15723037 GOA
Cellular Component GO Annotation Evidence References Source
located in cytoplasm IDA
IDA: Inferred from direct assay
15205472 GOA
located in nucleus IDA
IDA: Inferred from direct assay
15143342 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

NR5A2 Protein Structure

zf-C4

zf-C4: Zinc finger, C4 type (two domains) (85 - 152)

Hormone_recep

Hormone_recep: Ligand-binding domain of nuclear hormone receptor (325 - 517)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 541 a.a.
Protein Preferred Names Protein Names

nuclear receptor subfamily 5 group A member 2

  • CYP7A promoter-binding factor

NR5A2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
NR5A2 O00482 EDF1 Homo sapiens O60869 12040021
Cross: Cross-species interaction Intra: Intraspecies interaction

NR5A2 Antibodies

Cat. No. Product Name Application Reactivity
HY-P82727 NR5A2 Antibody (YA2472) WB Human, Mouse, Rat

Related Diseases

Diseases Alias
Hepatitis B
  • Chronic Hepatitis B

  • Hepatitis B Infection

  • Serum Hepatitis

  • HBV

  • Hepatitis B Chronic

  • Hbv, Susceptibility To

  • Hepatitis B, Chronic

  • Chronic Hepatitis B Without Delta Agent

  • Chronic Hbv - [Hepatitis B Virus] Infection

  • Hepatitis B Nos

  • Chronic Type B Viral Hepatitis

  • Hep B Nos

Hepatitis
  • Chronic Hepatitis

  • Chronic Persistent Hepatitis

  • Acute Hepatitis

  • Hepatitis, Chronic

  • Acute And Subacute Liver Necrosis

  • Acute/Subac. Necrosis Of Liver

  • Animal Hepatitis

  • Hepatitis Chronic

  • Hepatitis A

  • Hepatitis, Animal

  • Hepatitis Due To Toxoplasmosis

  • Hepatitis In Toxoplasmosis

  • Toxoplasmal Hepatitis

  • Chronic Hepatitis, Unspecified

  • Chronic Active Hepatitis Nec

  • Other Specified Chronic Hepatitis

  • Chronic Persistent Hepatitis Nec

  • Chronic Lobular Hepatitis Nec

Transvestism
  • Dual-Role Transvestism

  • Fetishistic Transvestism

  • Cross Dresser

  • Transvestic Fetishism

Premature Menopause
  • Primary Ovarian Insufficiency

  • Premature Ovarian Failure

  • Hypergonadotropic Hypogonadism

  • Premature Ovarian Insufficiency

  • Menopause - Premature

  • Menopause Praecox

  • Menopause Premature

  • Menopause, Premature

  • Female Hypergonadotropic Hypogonadism

  • Hypergonadotrophic Ovarian Failure

  • Primary Female Hypogonadism

  • Pof - [Premature Ovarian Failure]

  • Ovarian Failure

  • Ovarian Secretion Suppression

  • Ovary Hyposecretion

  • Ovary Secretion Deficiency

  • Premature Menopause Nos

Fetishism
  • Fetishism, Psychiatric

46,Xy Sex Reversal 2
  • Dosage-Sensitive Sex Reversal

  • Dss

  • SRXY2

  • 46,Xy Sex Reversal, Dax1-Related

  • 46xy Sex Reversal 2, Dosage-Sensitive

  • 46,Xy Sex Reversal Dax1-Related

46,Xy Sex Reversal
  • Swyer Syndrome

  • Pure Gonadal Dysgenesis 46,Xy

  • Gonadal Dysgenesis, Xy Female Type

  • Gonadal Dysgenesis, 46,Xy

  • 46,Xy Cgd

  • 46,Xy Complete Gonadal Dysgenesis

  • 46,Xy Pure Gonadal Dysgenesis

  • 46 Xy Gonadal Dysgenesis

  • 46, Xy Cgd

  • 46, Xy Complete Gonadal Dysgenesis

  • 46, Xy Pure Gonadal Dysgenesis

  • Xy Pure Gonadal Dysgenesis

  • Female With 46,Xy Karyotype

  • Xy Females

Idiopathic Peripheral Autonomic Neuropathy
Intrahepatic Cholestasis Of Pregnancy
  • Recurrent Intrahepatic Cholestasis Of Pregnancy

  • Gravidic Intrahepatic Cholestasis

  • Pregnancy-Related Cholestasis

  • Icp

  • Pregnancy Related Cholestasis

  • Cholestasis, Intrahepatic Of Pregnancy

  • Familial Intrahepatic Cholestasis Of Pregnancy

  • Familial Recurrent Intrahepatic Cholestasis Of Pregnancy

  • Ricp

  • Obstetric Cholestasis

Pancreatic Cancer
  • Pancreatic Carcinoma

  • Carcinoma Of Pancreas

  • Familial Pancreatic Carcinoma

  • Pancreatic Neoplasm

  • Pancreatic Carcinoma, Familial

  • Malignant Neoplasm Of Pancreas

  • Pancreatic Acinar Carcinoma

  • Pancreatic Tumor

  • Familial Pancreatic Cancer

  • Neoplasm Of The Pancreas

  • Cancer Of The Pancreas

  • Pancreatic Carcinoma, Somatic

  • Pancreatic Cancer, Somatic

  • Ca Body Of Pancreas

  • Ca Head Of Pancreas

  • Ca Tail Of Pancreas

  • Malignant Neoplasm Of Body Of Pancreas

  • Malignant Neoplasm Of Head Of Pancreas

  • Malignant Neoplasm Of Tail Of Pancreas

  • Pancreas Neoplasm

  • Exocrine Cancer

  • Exocrine Pancreas Carcinoma

  • Hereditary Pancreatic Cancer

  • Hereditary Pancreatic Carcinoma

  • PNCA

  • Pancreatic Cancer, Susceptibility To

  • Carcinoma Of Head Of Pancreas

  • Pancreatic Neoplasms

  • Pancreatic Tumors

  • Cancer, Pancreatic

  • Cancer Of Pancreas

  • Mixed Islet Cell With Exocrine Carcinoma Of Unspecified Site

Maturity-Onset Diabetes Of The Young
  • MODY

  • Maturity Onset Diabetes Mellitus In Young

  • Mason-Type Diabetes

  • Mason Type Diabetes

  • Maturity Onset Diabetes Of The Young

  • Mody Syndrome

  • Diabetes Of The Young, Maturity-Onset

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus NR5A2 MGD MGI:1346834
Bos taurus NR5A2 VGNC VGNC:32249
Canis familiaris NR5A2 VGNC VGNC:43956
Felis catus NR5A2 VGNC VGNC:97535
Macaca mulatta NR5A2 VGNC VGNC:75521
Rattus norvegicus NR5A2 RGD RGD:68353
Others NR5A2 NCBI