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Nr5a2 Gene Detail
Summary
  • Symbol
    Nr5a2
  • Name
    nuclear receptor subfamily 5, group A, member 2
  • Synonyms
    D1Ertd308e, Ftf, LRH-1, UF2-H3B
  • Feature Type
    protein coding gene
  • IDs
    MGI:1346834
    NCBI Gene: 26424
  • Gene Overview
    MyGene.info: NR5A2
Location & Maps
more
  • Sequence Map
    Chr1:136842571-136960448 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      117878 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 1, 59.98 cM, cytoband E4
  • Mapping Data
    4 experiments
Homology
more
  • Human Ortholog
    NR5A2, nuclear receptor subfamily 5 group A member 2
  • Vertebrate Orthologs
    10
  • Human Ortholog
    NR5A2, nuclear receptor subfamily 5 group A member 2
    Orthology source: HGNC, HomoloGene
  • Synonyms
    B1F, B1F2, CPF, FTF, FTZ-F1, FTZ-F1beta, hB1F-2, LRH1, LRH-1
  • Links
    NCBI Gene ID: 2494
    neXtProt AC: NX_O00482

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

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    36 phenotypes from 7 alleles in 10 genetic backgrounds
    10 phenotypes from multigenic genotypes
    37 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    98
  • Chemically induced (other)
    2
  • Gene trapped
    86
  • Radiation induced
    1
  • Targeted
    9
  • Genomic Mutations
    3 involving Nr5a2
  • Incidental Mutations
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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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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 sequence
Polymorphisms
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  • SNPs within 2kb
    1329 from dbSNP Build 142
Protein
Information
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  • UniProt
    5 Sequences
  • Protein Ontology
    PR:000011412 nuclear receptor subfamily 5 group A member 2
  • PDB
  • InterPro Domains
    IPR001723 Nuclear hormone receptor
    IPR016355 Nuclear hormone receptor family 5
    IPR000536 Nuclear hormone receptor, ligand-binding domain
    IPR013088 Zinc finger, NHR/GATA-type
    IPR001628 Zinc finger, nuclear hormone receptor-type
Molecular
Reagents
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  • All nucleic 24
    Genomic 1
    cDNA 12
    Primer pair 11

    Microarray probesets 5
Other
Accession IDs
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MGI:1098732, MGI:1203501, MGI:2684066
References
more
  • Summaries
    All 100
    Developmental Gene Expression 32
    Gene Ontology 16
    Phenotypes 37
  • 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:229014 Marty-Santos L, et al., Pdx1 regulates pancreas tubulogenesis and E-cadherin expression. Development. 2016 Jan 1;143(1):101-12

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
08/17/2016
MGI 6.05
The Jackson Laboratory