About   Help   FAQ
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
  • Alliance
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
    UniProt: O00482

  • Chr Location
    1q32.1; chr1:200027602-200177424 (+)  GRCh38.p7

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    36 phenotypes from 6 alleles in 10 genetic backgrounds
    10 phenotypes from multigenic genotypes
    43 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
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
less
  • All GO Annotations
  • GO References
Molecular Function

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

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
less
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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    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
    less
    • SNPs within 2kb
      1329 from dbSNP Build 142
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 25
      Genomic 2
      cDNA 12
      Primer pair 11

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGI:1098732, MGI:1203501, MGI:2684066
    References
    more
    • Summaries
      All 121
      Developmental Gene Expression 35
      Gene Ontology 17
      Phenotypes 43
    • Earliest
      J:134667 Roderick TH, et al., Two radiation-induced chromosomal inversions in mice (Mus musculus). Proc Natl Acad Sci U S A. 1970 Oct;67(2):961-7
    • Latest
      J:261800 Cobo I, et al., Transcriptional regulation by NR5A2 links differentiation and inflammation in the pancreas. Nature. 2018 Feb 22;554(7693):533-537

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
    Warranty Disclaimer & Copyright Notice
    Send questions and comments to User Support.
    last database update
    09/11/2018
    MGI 6.12
    The Jackson Laboratory