NR5A2 (nuclear receptor subfamily 5 group A member 2)

2007-02-01  

Identity

HGNC
NR5A2
LOCATION
1q32.1
LOCUSID
2494
ALIAS
B1F,B1F2,CPF,FTF,FTZ-F1,FTZ-F1beta,LRH-1,LRH1,hB1F-2

Other Information

Locus ID:

NCBI: 2494
MIM: 604453
HGNC: 7984
Ensembl: ENSG00000116833

Variants:

dbSNP: 2494
ClinVar: 2494
TCGA: ENSG00000116833
COSMIC: NR5A2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000116833ENST00000236914O00482
ENSG00000116833ENST00000236914F1D8R9
ENSG00000116833ENST00000367357H0Y328
ENSG00000116833ENST00000367362O00482
ENSG00000116833ENST00000447034H0Y7S7
ENSG00000116833ENST00000474307E9PQH2
ENSG00000116833ENST00000544748O00482

Expression (GTEx)

0
5
10
15
20
25
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Maturity onset diabetes of the youngKEGGko04950
Maturity onset diabetes of the youngKEGGhsa04950
Gene ExpressionREACTOMER-HSA-74160
Generic Transcription PathwayREACTOMER-HSA-212436
Nuclear Receptor transcription pathwayREACTOMER-HSA-383280
Developmental BiologyREACTOMER-HSA-1266738
Regulation of beta-cell developmentREACTOMER-HSA-186712
Regulation of gene expression in early pancreatic precursor cellsREACTOMER-HSA-210747

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
201012432010A genome-wide association study identifies pancreatic cancer susceptibility loci on chromosomes 13q22.1, 1q32.1 and 5p15.33.261
157078932005Structural analyses reveal phosphatidyl inositols as ligands for the NR5 orphan receptors SF-1 and LRH-1.156
219903482011Rapid and efficient reprogramming of somatic cells to induced pluripotent stem cells by retinoic acid receptor gamma and liver receptor homolog 1.102
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
216140022011A nuclear-receptor-dependent phosphatidylcholine pathway with antidiabetic effects.78
157230372005Modulation of human nuclear receptor LRH-1 activity by phospholipids and SHP.71
201599572010GPS2-dependent corepressor/SUMO pathways govern anti-inflammatory actions of LRH-1 and LXRbeta in the hepatic acute phase response.71
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
119275882002Liver receptor homologue-1 (LRH-1) regulates expression of aromatase in preadipocytes.57
219493572011Nuclear receptor liver receptor homologue 1 (LRH-1) regulates pancreatic cancer cell growth and proliferation.42

Citation

Dessen P

NR5A2 (nuclear receptor subfamily 5 group A member 2)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46438/nr5a2-(nuclear-receptor-subfamily-5-group-a-member-2)