1. Gene
  2. NR5A2 - nuclear receptor subfamily 5 group A member 2 Gene

NR5A2 - nuclear receptor subfamily 5 group A member 2 Gene

Homo sapiens

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

Gene ID: 2494 | Gene type: protein coding

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

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)

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  • 541 a.a.
Protein Preferred Names Protein Names

nuclear receptor subfamily 5 group A member 2

CYP7A promoter-binding factor

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