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Nr5a2
Gene Detail
Symbol

Name
ID
Nr5a2
nuclear receptor subfamily 5, group A, member 2
MGI:1346834
Synonyms
D1Ertd308e, Ftf, LRH-1, UF2-H3B
Feature Type
protein coding gene
Genetic Map
Chromosome 1
59.98 cM, cytoband E4
Detailed Genetic Map ± 1 cM


Mapping data(4)
Sequence Map
Chr1:136842571-136960448 bp, - strand
From VEGA annotation of GRCm38

  117878 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:20827  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: NR5A2
Protein SuperFamily: steroidogenic factor-like nuclear receptor
Gene Tree: Nr5a2

Human
homologs
NR5A2, nuclear receptor subfamily 5, group A, member 2
Orthology source: HomoloGene, HGNC

IDs:
NCBI Gene ID: 2494
neXtProt AC: NX_O00482

Human Synonyms: B1F, B1F2, CPF, FTF, FTZ-F1, FTZ-F1beta, hB1F-2, LRH1, LRH-1

Human Chr (Location): 1q32.1; chr1:200027602-200177424 (+)  GRCh38.p2

Mutations,
alleles, and
phenotypes
All mutations/alleles(95) : Gene trapped(86) Targeted(9)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
Mice homozygous for disruptions in this gene die around embryonic day 7.5. Heterozygotes are essentially normal but with lower plasma cholesterol, increased bile acids, and shorter intestinal crypt length.
 
Interactions
Nr5a2 interacts with 302 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (33 annotations)
Process bile acid metabolic process, cholesterol homeostasis, ...
Component cytoplasm, nucleus
Function DNA binding, double-stranded DNA binding, ...
External Resources: FuncBase
Expression
Literature Summary: (31 records)
Data Summary: Results (376)    Tissues (234)    Images (63)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 285
RT-PCR 91
cDNA source data(12)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase nr5a2 ; ZFIN nr5a2    NEW 
Molecular
reagents
All nucleic(24) Genomic(1) cDNA(12) Primer pair(11)
Microarray probesets(5)
Other database
links
VEGA Gene Model OTTMUSG00000049882 (Evidence)
Ensembl Gene Model ENSMUSG00000026398 (Evidence)
Entrez Gene 26424 (Evidence)
DFCI TC1631802, TC1609002, TC1586407, TC1639182
DoTS DT.110884454, DT.102542852, DT.101339533, DT.101136289, DT.489032, DT.488491
NIA Mouse Gene Index U021824
PDB 3F5C, 1ZH7, 1PK5
Consensus CDS Project CCDS15328.1, CCDS48382.1
International Mouse Phenotyping Consortium Status Nr5a2
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000049882 VEGA Gene Model | MGI Sequence Detail 117878 C57BL/6J ±  kb
transcript OTTMUST00000127010 VEGA | MGI Sequence Detail 4733 Not Applicable 
polypeptide OTTMUSP00000068636 VEGA | MGI Sequence Detail 560 Not Applicable 

For the selected sequences
All sequences(61) RefSeq(8) UniProt(5)
Polymorphisms
SNPs within 2kb(1370 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR008946 Nuclear hormone receptor, ligand-binding
InterPro IPR000536 Nuclear hormone receptor, ligand-binding, core
InterPro IPR001723 Steroid hormone receptor
InterPro IPR016355 Steroidogenic factor 1
InterPro IPR013088 Zinc finger, NHR/GATA-type
InterPro IPR001628 Zinc finger, nuclear hormone receptor-type
Protein Ontology PR:000011412 nuclear receptor subfamily 5 group A member 2
References
(Earliest) J:33569 Galarneau L, et al., The alpha1-fetoprotein locus is activated by a nuclear receptor of the Drosophila FTZ-F1 family. Mol Cell Biol. 1996 Jul;16(7):3853-65
(Latest) J:215556 Stein S, et al., SUMOylation-dependent LRH-1/PROX1 interaction promotes atherosclerosis by decreasing hepatic reverse cholesterol transport. Cell Metab. 2014 Oct 7;20(4):603-13
All references(97)
Other
accession IDs
MGI:1098732, MGI:1203501, MGI:2684066

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
06/23/2015
MGI 5.22
The Jackson Laboratory