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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
  • Alliance
  • Transcription Start Sites
    12 TSS
Location &
Maps
more
  • Sequence Map
    Chr1:136842571-136960448 bp, - strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 1, 59.98 cM, cytoband E4
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1329 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1346834
protein coding gene Chr1:136842562-136960448 (-)
129S1/SvImJ MGP_129S1SvImJ_G0016544
protein coding gene Chr1:140727830-140864494 (-)
A/J MGP_AJ_G0016527
protein coding gene Chr1:135361200-135480500 (-)
AKR/J MGP_AKRJ_G0016492
protein coding gene Chr1:139409747-139534514 (-)
BALB/cJ MGP_BALBcJ_G0016487
protein coding gene Chr1:135704103-135825871 (-)
C3H/HeJ MGP_C3HHeJ_G0016313
protein coding gene Chr1:139501801-139625330 (-)
C57BL/6NJ MGP_C57BL6NJ_G0016948
protein coding gene Chr1:145743095-145872907 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0014659
protein coding gene Chr1:128458639-128581144 (-)
CAST/EiJ MGP_CASTEiJ_G0015893
protein coding gene Chr1:138638436-138775650 (-)
CBA/J MGP_CBAJ_G0016286
protein coding gene Chr1:150796974-150922340 (-)
DBA/2J MGP_DBA2J_G0016392
protein coding gene Chr1:134352384-134472557 (-)
FVB/NJ MGP_FVBNJ_G0016391
protein coding gene Chr1:133001767-133120808 (-)
LP/J MGP_LPJ_G0016463
protein coding gene Chr1:141921661-142044758 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0016416
protein coding gene Chr1:156422357-156549369 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0016984
protein coding gene Chr1:139176151-139297342 (-)
PWK/PhJ MGP_PWKPhJ_G0015679
protein coding gene Chr1:133418026-133537232 (-)
SPRET/EiJ MGP_SPRETEiJ_G0015466
protein coding gene Chr1:138161145-138280758 (-)
WSB/EiJ MGP_WSBEiJ_G0015956
protein coding gene Chr1:139202536-139329367 (-)



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: HomoloGene, HGNC
  • 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
    44 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
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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
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 ENSMUSG00000026398 Ensembl Gene Model | MGI Sequence Detail 117878 C57BL/6J ±  kb
    transcript ENSMUST00000027649 Ensembl | MGI Sequence Detail 4733 Not Applicable  
    polypeptide ENSMUSP00000027649 Ensembl | MGI Sequence Detail 560 Not Applicable  
    For the selected sequence
    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 122
      Developmental Gene Expression 35
      Gene Ontology 18
      Phenotypes 44
    • 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:265714 Cobo-Vuilleumier N, et al., LRH-1 agonism favours an immune-islet dialogue which protects against diabetes mellitus. Nat Commun. 2018 Apr 16;9(1):1488

    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
    11/06/2018
    MGI 6.13
    The Jackson Laboratory