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Nr1h4 Gene Detail
Summary
  • Symbol
    Nr1h4
  • Name
    nuclear receptor subfamily 1, group H, member 4
  • Synonyms
    Fxr, FXR, HRR1, RIP14, Rxrip14
  • Feature Type
    protein coding gene
  • IDs
    MGI:1352464
    NCBI Gene: 20186
  • Alliance
  • Transcription Start Sites
    5 TSS
  • Candidate for QTL
    4 QTL
Location &
Maps
more
  • Sequence Map
    Chr10:89290096-89369447 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
  • Genetic Map
    Chromosome 10, 44.98 cM
  • Mapping Data
    8 experiments
Strain
Comparison
more
  • SNPs within 2kb
    2343 from dbSNP Build 142
  • Strain Annotations
    19
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1352464
protein coding gene Chr10:89290096-89369484 (-)
129S1/SvImJ ENSMUSG00200027224
protein coding gene Chr10:85788050-85867390 (-)
A/J ENSMUSG00195019538
protein coding gene Chr10:86228267-86306809 (-)
AKR/J ENSMUSG00220020407
protein coding gene Chr10:85786903-85865452 (-)
BALB/cJ ENSMUSG00180029836
protein coding gene Chr10:86231237-86309763 (-)
C3H/HeJ ENSMUSG00175022328
protein coding gene Chr10:86121537-86200051 (-)
C57BL/6NJ ENSMUSG00215011972
protein coding gene Chr10:85790762-85870110 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0015717
protein coding gene Chr10:83247983-83332639 (-)
CAST/EiJ ENSTCUG00005031296
protein coding gene Chr10:85516164-85594842 (-)
CBA/J ENSMUSG00210029108
protein coding gene Chr10:85961972-86040489 (-)
DBA/2J ENSMUSG00185039054
protein coding gene Chr10:86182799-86262153 (-)
FVB/NJ ENSMUSG00205015117
protein coding gene Chr10:85833209-85911751 (-)
JF1/MsJ ENSUMUG00000016572
protein coding gene Chr10:87541425-87621584 (-)
LP/J ENSMUSG00230013137
protein coding gene Chr10:88068909-88148253 (-)
NOD/ShiLtJ ENSMUSG00190017067
protein coding gene Chr10:86213350-86291880 (-)
NZO/HlLtJ ENSMUSG00225020946
protein coding gene Chr10:92336739-92415268 (-)
PWK/PhJ ENSLUMG00010022618
protein coding gene Chr10:85843562-85921896 (-)
SPRET/EiJ ENSMSPG00010029744
protein coding gene Chr10:87367845-87445613 (-)
WSB/EiJ ENSIUOG00005034310
protein coding gene Chr10:85929737-86008380 (-)



Homology
more
  • Human Ortholog
    NR1H4, nuclear receptor subfamily 1 group H member 4
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    NR1H4, nuclear receptor subfamily 1 group H member 4
  • Synonyms
    BAR, FXR, HRR-1, HRR1, PFIC5, RIP14
  • Links
    NCBI Gene ID: 9971
    UniProt: Q96RI1

  • Chr Location
    12q23.1; chr12:100473708-100564414 (+)  GRCh38

Human Diseases
more
  • Diseases
    1 with Nr1h4 mouse models; 3 with human NR1H4 associations

Human Disease Mouse Models
      
IDs
View 2 models
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    57 phenotypes from 5 alleles in 9 genetic backgrounds
    2 images
    259 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.
Mice homozygous for knock-out alleles exhibit increased bile salts and abnormal liver morphology and physiology. Mice homozygous for one knock-out allele also exhibit abnormal lipid homeostasis.
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
  • Comparison Matrix
  • Sequences &
    Gene Models
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    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000047638 Ensembl Gene Model | MGI Sequence Detail 79352 C57BL/6J ±  kb
    transcript ENSMUST00000105296 Ensembl | MGI Sequence Detail 1985 Not Applicable  
    polypeptide ENSMUSP00000100933 Ensembl | MGI Sequence Detail 488 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      2 Sequences
    • Protein Ontology
      PR:000011396 bile acid receptor
    • InterPro Domains
      IPR044114 Bile acid receptor, ligand binding domain
      IPR001723 Nuclear hormone receptor
      IPR050234 Nuclear hormone receptor family NR1 subfamily
      IPR000536 Nuclear hormone receptor, ligand-binding domain
      IPR035500 Nuclear hormone receptor-like domain superfamily
      IPR001728 Thyroid hormone receptor
      IPR013088 Zinc finger, NHR/GATA-type
      IPR001628 Zinc finger, nuclear hormone receptor-type
    • GlyGen
      Q60641 1 site, 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 47
      cDNA 40
      Primer pair 5
      Other 2

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-24051, MGD-MRK-33613, MGI:103183, MGI:105934, MGI:2143705
    References
    more
    • Summaries
      All 381
      Developmental Gene Expression 21
      Diseases 3
      Gene Ontology 25
      Phenotypes 259
    • Earliest
      J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
    • Latest
      J:389099 Lin H, et al., The enterohepatic bile acid axis: from perinatal programming to metabolic collapse. Biochem Biophys Res Commun. 2026 Jul 9;830:154261

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    last database update
    09/08/2026
    MGI 6.24
    The Jackson Laboratory