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Aliases for MSH4 Gene

Aliases for MSH4 Gene

  • MutS Homolog 4 2 3 5
  • HMSH4 3 4
  • MutS (E. Coli) Homolog 4 2
  • MutS Homolog 4 (E. Coli) 2

External Ids for MSH4 Gene

Previous GeneCards Identifiers for MSH4 Gene

  • GC01P076382
  • GC01P075197
  • GC01P075678
  • GC01P075685
  • GC01P075974
  • GC01P076035
  • GC01P076262
  • GC01P074392

Summaries for MSH4 Gene

Entrez Gene Summary for MSH4 Gene

  • This gene encodes a member of the DNA mismatch repair mutS family. This member is a meiosis-specific protein that is not involved in DNA mismatch correction, but is required for reciprocal recombination and proper segregation of homologous chromosomes at meiosis I. This protein and MSH5 form a heterodimer which binds uniquely to a Holliday Junction and its developmental progenitor, thus provoking ADP-ATP exchange, and stabilizing the interaction between parental chromosomes during meiosis double-stranded break repair. [provided by RefSeq, Aug 2011]

GeneCards Summary for MSH4 Gene

MSH4 (MutS Homolog 4) is a Protein Coding gene. Among its related pathways are Cell Cycle, Mitotic and Meiosis. GO annotations related to this gene include damaged DNA binding and mismatched DNA binding.

UniProtKB/Swiss-Prot for MSH4 Gene

  • Involved in meiotic recombination. Required for reciprocal recombination and proper segregation of homologous chromosomes at meiosis.

Gene Wiki entry for MSH4 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MSH4 Gene

Genomics for MSH4 Gene

Regulatory Elements for MSH4 Gene

Enhancers for MSH4 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around MSH4 on UCSC Golden Path with GeneCards custom track

Genomic Location for MSH4 Gene

75,796,871 bp from pter
75,913,238 bp from pter
116,368 bases
Plus strand

Genomic View for MSH4 Gene

Genes around MSH4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MSH4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MSH4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MSH4 Gene

Proteins for MSH4 Gene

  • Protein details for MSH4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    MutS protein homolog 4
    Protein Accession:
    Secondary Accessions:
    • Q5T4U6
    • Q8NEB3
    • Q9UNP8

    Protein attributes for MSH4 Gene

    936 amino acids
    Molecular mass:
    104756 Da
    Quaternary structure:
    • Heterooligomer of MSH4 and MSH5.

neXtProt entry for MSH4 Gene

Proteomics data for MSH4 Gene at MOPED

Post-translational modifications for MSH4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MSH4 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MSH4 Gene

Domains & Families for MSH4 Gene

Gene Families for MSH4 Gene

Suggested Antigen Peptide Sequences for MSH4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the DNA mismatch repair MutS family.
  • Belongs to the DNA mismatch repair MutS family.
genes like me logo Genes that share domains with MSH4: view

Function for MSH4 Gene

Molecular function for MSH4 Gene

GENATLAS Biochemistry:
yeast meiosis-specific protein (Mut S homolog 4) expressed in testis and ovary,interacting with MSH5,not involved in mismatch repair
UniProtKB/Swiss-Prot Function:
Involved in meiotic recombination. Required for reciprocal recombination and proper segregation of homologous chromosomes at meiosis.

Gene Ontology (GO) - Molecular Function for MSH4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding TAS 9299235
GO:0005515 protein binding IPI 16397227
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with MSH4: view
genes like me logo Genes that share phenotypes with MSH4: view

Animal Models for MSH4 Gene

MGI Knock Outs for MSH4:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for MSH4 Gene

Localization for MSH4 Gene

Subcellular locations from

Jensen Localization Image for MSH4 Gene COMPARTMENTS Subcellular localization image for MSH4 gene
Compartment Confidence
nucleus 5
cytosol 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for MSH4 Gene

Pathways & Interactions for MSH4 Gene

SuperPathways for MSH4 Gene

Superpath Contained pathways
1 Meiosis
2 Cell Cycle, Mitotic
genes like me logo Genes that share pathways with MSH4: view

Pathways by source for MSH4 Gene

3 Reactome pathways for MSH4 Gene

Gene Ontology (GO) - Biological Process for MSH4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001541 ovarian follicle development IEA --
GO:0007283 spermatogenesis IEA --
GO:0007292 female gamete generation IEA --
GO:0045143 homologous chromosome segregation IBA --
genes like me logo Genes that share ontologies with MSH4: view

No data available for SIGNOR curated interactions for MSH4 Gene

Drugs & Compounds for MSH4 Gene

No Compound Related Data Available

Transcripts for MSH4 Gene

mRNA/cDNA for MSH4 Gene

(1) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(18) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for MSH4 Gene

MutS homolog 4 (E. coli):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MSH4 Gene

No ASD Table

Relevant External Links for MSH4 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for MSH4 Gene

mRNA expression in normal human tissues for MSH4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MSH4 Gene

This gene is overexpressed in Testis (x6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for MSH4 Gene

SOURCE GeneReport for Unigene cluster for MSH4 Gene Hs.216639

mRNA Expression by UniProt/SwissProt for MSH4 Gene

Tissue specificity: Testis and ovary specific.
genes like me logo Genes that share expression patterns with MSH4: view

Primer Products

No data available for Protein differential expression in normal tissues and Protein tissue co-expression partners for MSH4 Gene

Orthologs for MSH4 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MSH4 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia MSH4 35
  • 92.65 (n)
  • 92.18 (a)
MSH4 36
  • 94 (a)
(Canis familiaris)
Mammalia MSH4 35
  • 94.04 (n)
  • 94.08 (a)
MSH4 36
  • 90 (a)
(Mus musculus)
Mammalia Msh4 35
  • 83.46 (n)
  • 88.01 (a)
Msh4 16
Msh4 36
  • 84 (a)
(Pan troglodytes)
Mammalia MSH4 35
  • 99.57 (n)
  • 99.57 (a)
MSH4 36
  • 100 (a)
(Rattus norvegicus)
Mammalia Msh4 35
  • 83.06 (n)
  • 87.71 (a)
(Monodelphis domestica)
Mammalia MSH4 36
  • 65 (a)
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 76 (a)
-- 36
  • 78 (a)
-- 36
  • 73 (a)
-- 36
  • 87 (a)
(Gallus gallus)
Aves MSH4 35
  • 74.4 (n)
  • 77.12 (a)
MSH4 36
  • 80 (a)
(Anolis carolinensis)
Reptilia MSH4 36
  • 80 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia msh4 35
  • 74.12 (n)
  • 75.71 (a)
(Danio rerio)
Actinopterygii msh4 35
  • 59.97 (n)
  • 61.05 (a)
msh4 36
  • 56 (a)
(Caenorhabditis elegans)
Secernentea him-14 37
  • 31 (a)
him-14 35
  • 46.69 (n)
  • 34.12 (a)
him-14 36
  • 30 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F11022g 35
  • 47.05 (n)
  • 32.84 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MSH4 35
  • 48.83 (n)
  • 34.03 (a)
MSH4 36
  • 28 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons MSH4 35
  • 47.51 (n)
  • 37.6 (a)
(Oryza sativa)
Liliopsida Os07g0486000 35
  • 46.15 (n)
  • 33.03 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 53 (a)
Species with no ortholog for MSH4:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MSH4 Gene

Gene Tree for MSH4 (if available)
Gene Tree for MSH4 (if available)

Paralogs for MSH4 Gene

(1) SIMAP similar genes for MSH4 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with MSH4: view

No data available for Paralogs for MSH4 Gene

Variants for MSH4 Gene

Sequence variations from dbSNP and Humsavar for MSH4 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs5745311 - 75,797,164(+) AGCTG(C/G/T)GGGCG reference, missense
rs5745324 - 75,803,754(+) AAAGA(A/G)CTTAT reference, missense
rs5745325 - 75,803,775(+) CAGTT(A/G)CATCA reference, missense
rs5745329 - 75,807,037(+) TTGTA(A/G)AAGGG reference, missense
rs5745459 - 75,880,138(+) AATCT(A/G)TCACA reference, missense

Structural Variations from Database of Genomic Variants (DGV) for MSH4 Gene

Variant ID Type Subtype PubMed ID
nsv519329 CNV Gain 19592680
nsv1466 CNV Loss 18451855
nsv871671 CNV Loss 21882294
esv1918463 CNV Deletion 18987734
esv2575184 CNV Loss 19546169
esv1540402 CNV Insertion 17803354
esv1749246 CNV Insertion 17803354
esv1103396 CNV Deletion 17803354
esv2749996 CNV Deletion 23290073
esv2475692 CNV Insertion 19546169

Variation tolerance for MSH4 Gene

Residual Variation Intolerance Score: 11.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.68; 65.92% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MSH4 Gene

Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MSH4 Gene

Disorders for MSH4 Gene

Relevant External Links for MSH4

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:

No disorders were found for MSH4 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for MSH4 Gene

Publications for MSH4 Gene

  1. Cloning and expression analysis of a meiosis-specific MutS homolog: the human MSH4 gene. (PMID: 9299235) Paquis-Flucklinger V. … Desnuelle C. (Genomics 1997) 2 3 4 23 67
  2. Human MutS homologue MSH4 physically interacts with von Hippel-Lindau tumor suppressor-binding protein 1. (PMID: 12591739) Her C. … Zhou F. (Cancer Res. 2003) 3 23
  3. MSH4 acts in conjunction with MLH1 during mammalian meiosis. (PMID: 10928988) Santucci-Darmanin S. … Paquis-Flucklinger V. (FASEB J. 2000) 3 23
  4. Cloning and characterization of the human and Caenorhabditis elegans homologs of the Saccharomyces cerevisiae MSH5 gene. (PMID: 9787078) Winand N.J. … Kolodner R.D. (Genomics 1998) 3 23
  5. TP53, MSH4, and LATS1 germline mutations in a family with clustering of nervous system tumors. (PMID: 25041856) Kim Y.H. … Ohgaki H. (Am. J. Pathol. 2014) 3

Products for MSH4 Gene

Sources for MSH4 Gene