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Msh4 Gene Detail
Summary
  • Symbol
    Msh4
  • Name
    mutS homolog 4
  • Synonyms
    4930485C04Rik, mMsh4
  • Feature Type
    protein coding gene
  • IDs
    MGI:1860077
    NCBI Gene: 55993
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr3:153562783-153611495 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 3, 78.70 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1462 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1860077
 protein coding gene Chr3:153562783-153611775 (-)
129S1/SvImJ MGP_129S1SvImJ_G0027998
 protein coding gene Chr3:157817267-157873414 (-)
A/J MGP_AJ_G0027957
 protein coding gene Chr3:152073805-152123654 (-)
AKR/J MGP_AKRJ_G0027923
 protein coding gene Chr3:156145652-156196914 (-)
BALB/cJ MGP_BALBcJ_G0027969
 protein coding gene Chr3:151882578-151932948 (-)
C3H/HeJ MGP_C3HHeJ_G0027699
 protein coding gene Chr3:156510630-156563365 (-)
C57BL/6NJ MGP_C57BL6NJ_G0028412
 protein coding gene Chr3:162956632-163015916 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0025750
 protein coding gene Chr3:146851306-146898447 (-)
CAST/EiJ MGP_CASTEiJ_G0027152
 protein coding gene Chr3:156619326-156676195 (-)
CBA/J MGP_CBAJ_G0027674
 protein coding gene Chr3:168838154-168896445 (-)
DBA/2J MGP_DBA2J_G0027814
 protein coding gene Chr3:151155404-151205403 (-)
FVB/NJ MGP_FVBNJ_G0027781
 protein coding gene Chr3:148527911-148584412 (-)
LP/J MGP_LPJ_G0027925
 protein coding gene Chr3:159146169-159202566 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0027814
 protein coding gene Chr3:177308365-177363597 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0028471
 protein coding gene Chr3:155779784-155838528 (-)
PWK/PhJ MGP_PWKPhJ_G0026875
 protein coding gene Chr3:151071175-151120865 (-)
SPRET/EiJ MGP_SPRETEiJ_G0026703
 protein coding gene Chr3:153943891-153994226 (-)
WSB/EiJ MGP_WSBEiJ_G0027232
 protein coding gene Chr3:156766324-156823498 (-)



Homology
more
  • Human Ortholog
    MSH4, mutS homolog 4
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    MSH4, mutS homolog 4
  • Synonyms
    ASG, POF20, SPGF2
  • Links
    NCBI Gene ID: 4438
    neXtProt AC: NX_O15457
    UniProt: O15457

  • Chr Location
    1p31.1; chr1:75796882-75913242 (+)  GRCh38
Human Diseases
more
  • Diseases
    2 with human MSH4 associations

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

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    9 phenotypes from 1 allele in 1 genetic background
    3 phenotypes from multigenic genotypes
    7 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.
Homozygotes for a targeted null mutation exhibit male and female sterility associated with failure to undergo pairing during meiosis.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    20
  • GO References
    13
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
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
    785
  • Tissues
    14
  • cDNA Data
    14
  • Literature Summary
    11
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 55993 NCBI Gene Model | MGI Sequence Detail 48713 C57BL/6J ±  kb
    transcript NM_001282054 RefSeq | MGI Sequence Detail 3087 C57BL/6  
    polypeptide Q99MT2 UniProt | EBI | MGI Sequence Detail 958 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      10 Sequences
    • Protein Ontology
      PR:000010668 MutS protein homolog 4
      (term hierarchy)
    • InterPro Domains
      IPR011184 DNA mismatch repair Msh2-type
      IPR045076 DNA mismatch repair MutS family
      IPR007861 DNA mismatch repair protein MutS, clamp
      IPR007860 DNA mismatch repair protein MutS, connector domain
      IPR007696 DNA mismatch repair protein MutS, core
      IPR036187 DNA mismatch repair protein MutS, core domain superfamily
      IPR000432 DNA mismatch repair protein MutS, C-terminal
      IPR036678 MutS, connector domain superfamily
      IPR027417 P-loop containing nucleoside triphosphate hydrolase
    Molecular
    Reagents
    less
    • All nucleic 22
      cDNA 15
      Primer pair 7

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:1922046, MGI:2139937
    References
    more
    • Summaries
      All 46
      Developmental Gene Expression 11
      Gene Ontology 13
      Phenotypes 7
    • Earliest
      J:62204 Kneitz B, et al., MutS homolog 4 localization to meiotic chromosomes is required for chromosome pairing during meiosis in male and female mice. Genes Dev. 2000 May 1;14(9):1085-97
    • Latest
      J:347973 Li Y, et al., M1AP interacts with the mammalian ZZS complex and promotes male meiotic recombination. EMBO Rep. 2023 Feb 6;24(2):e55778
    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)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/05/2024
    MGI 6.24     		The Jackson Laboratory