Free for academic non-profit institutions. Other users need a Commercial license

Aliases for MSH5 Gene

Aliases for MSH5 Gene

  • MutS Homolog 5 2 3 5
  • MutS (E. Coli) Homolog 5 2
  • MutS Homolog 5 (E. Coli) 2
  • MUTSH5 3
  • HMSH5 4
  • NG23 3
  • G7 3

External Ids for MSH5 Gene

Previous GeneCards Identifiers for MSH5 Gene

  • GC06P031771
  • GC06P031478
  • GC06P031812
  • GC06P031815
  • GC06P031707
  • GC06P031740
  • GC06P031745

Summaries for MSH5 Gene

Entrez Gene Summary for MSH5 Gene

  • This gene encodes a member of the mutS family of proteins that are involved in DNA mismatch repair and meiotic recombination. This protein is similar to a Saccharomyces cerevisiae protein that participates in segregation fidelity and crossing-over events during meiosis. This protein plays a role in promoting ionizing radiation-induced apoptosis. This protein forms hetero-oligomers with another member of this family, mutS homolog 4. Polymorphisms in this gene have been linked to various human diseases, including IgA deficiency, common variable immunodeficiency, and premature ovarian failure. Alternative splicing results multiple transcript variants. Read-through transcription also exists between this gene and the downstream chromosome 6 open reading frame 26 (C6orf26) gene. [provided by RefSeq, Feb 2011]

GeneCards Summary for MSH5 Gene

MSH5 (MutS Homolog 5) is a Protein Coding gene. Diseases associated with MSH5 include Premature Ovarian Failure and Common Variable Immunodeficiency. Among its related pathways are Cell Cycle, Mitotic and Meiosis. GO annotations related to this gene include damaged DNA binding and mismatched DNA binding. An important paralog of this gene is MSH5-SAPCD1.

UniProtKB/Swiss-Prot for MSH5 Gene

  • Involved in meiotic recombination. Facilitate crossovers between homologs during meiosis (By similarity).

Gene Wiki entry for MSH5 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MSH5 Gene

Genomics for MSH5 Gene

Regulatory Elements for MSH5 Gene

Enhancers for MSH5 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 MSH5 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the MSH5 gene promoter:

Genomic Location for MSH5 Gene

31,739,948 bp from pter
31,762,834 bp from pter
22,887 bases
Plus strand

Genomic View for MSH5 Gene

Genes around MSH5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MSH5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MSH5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

Proteins for MSH5 Gene

  • Protein details for MSH5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    MutS protein homolog 5
    Protein Accession:
    Secondary Accessions:
    • B0V033
    • B0V034
    • O60586
    • Q5BLU9
    • Q5SSR1
    • Q8IW44
    • Q9BQC7

    Protein attributes for MSH5 Gene

    834 amino acids
    Molecular mass:
    92875 Da
    Quaternary structure:
    • Heterooligomer of MSH4 and MSH5. Interacts with HJURP.

    Alternative splice isoforms for MSH5 Gene


neXtProt entry for MSH5 Gene

Proteomics data for MSH5 Gene at MOPED

Post-translational modifications for MSH5 Gene

  • Ubiquitination at Lys 105 and Lys 584
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for MSH5 Gene

Domains & Families for MSH5 Gene

Gene Families for MSH5 Gene

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 MSH5: view

Function for MSH5 Gene

Molecular function for MSH5 Gene

GENATLAS Biochemistry:
yeast meiosis specific protein,mutator gene homolog (bacteria Mut S homolog 5) interacting with MSH4,92.9kDa,ubiquitous,mostly expressed in testis,thymus, and immune system,putatively required for chromosome pairing in meiosis and DNA replicative mismatch repair
UniProtKB/Swiss-Prot Function:
Involved in meiotic recombination. Facilitate crossovers between homologs during meiosis (By similarity).

Gene Ontology (GO) - Molecular Function for MSH5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16397227
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with MSH5: view
genes like me logo Genes that share phenotypes with MSH5: view

Animal Models for MSH5 Gene

MGI Knock Outs for MSH5:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MSH5 Gene

Localization for MSH5 Gene

Subcellular locations from

Jensen Localization Image for MSH5 Gene COMPARTMENTS Subcellular localization image for MSH5 gene
Compartment Confidence
mitochondrion 2
nucleus 2
cytosol 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for MSH5 Gene

Pathways & Interactions for MSH5 Gene

genes like me logo Genes that share pathways with MSH5: view

Pathways by source for MSH5 Gene

1 BioSystems pathway for MSH5 Gene
3 Reactome pathways for MSH5 Gene

Gene Ontology (GO) - Biological Process for MSH5 Gene


No data available for SIGNOR curated interactions for MSH5 Gene

Drugs & Compounds for MSH5 Gene

No Compound Related Data Available

Transcripts for MSH5 Gene

Unigene Clusters for MSH5 Gene

MutS homolog 5 (E. coli):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MSH5 Gene

No ASD Table

Relevant External Links for MSH5 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for MSH5 Gene

mRNA expression in normal human tissues for MSH5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MSH5 Gene

This gene is overexpressed in Breast (22.9), Stomach (16.5), Ovary (6.4), and Gallbladder (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for MSH5 Gene

SOURCE GeneReport for Unigene cluster for MSH5 Gene Hs.647011

mRNA Expression by UniProt/SwissProt for MSH5 Gene

Tissue specificity: Ubiquitous, but highly expressed in testis, and thymus.
genes like me logo Genes that share expression patterns with MSH5: view

Primer Products

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for MSH5 Gene

Orthologs for MSH5 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MSH5 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia MSH5 35
  • 90.3 (n)
  • 92.55 (a)
MSH5 36
  • 93 (a)
(Canis familiaris)
Mammalia MSH5 35
  • 88.56 (n)
  • 90.07 (a)
MSH5 36
  • 86 (a)
(Mus musculus)
Mammalia Msh5 35
  • 87.09 (n)
  • 89.59 (a)
Msh5 16
Msh5 36
  • 89 (a)
(Pan troglodytes)
Mammalia MSH5 35
  • 99.6 (n)
  • 99.4 (a)
-- 36
  • 97 (a)
(Rattus norvegicus)
Mammalia Msh5 35
  • 86.63 (n)
  • 88.94 (a)
(Monodelphis domestica)
Mammalia -- 36
  • 78 (a)
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 70 (a)
-- 36
  • 60 (a)
-- 36
  • 64 (a)
(Anolis carolinensis)
Reptilia -- 36
  • 66 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia msh5 35
  • 61.42 (n)
  • 59.08 (a)
(Danio rerio)
Actinopterygii msh5 35
  • 59.29 (n)
  • 55.37 (a)
MSH5 36
  • 53 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002642 35
  • 46.38 (n)
  • 33.74 (a)
(Caenorhabditis elegans)
Secernentea msh-5 37
  • 30 (a)
msh-5 35
  • 42.09 (n)
  • 31.7 (a)
msh-5 36
  • 17 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C16423g 35
  • 40.67 (n)
  • 31.69 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MSH5 35
  • 42.96 (n)
  • 33.22 (a)
MSH5 36
  • 24 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons MSH5 35
  • 44.12 (n)
  • 33.56 (a)
(Oryza sativa)
Liliopsida Os05g0498300 35
  • 45.43 (n)
  • 34.56 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU09384 35
  • 45.13 (n)
  • 35.92 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 41 (a)
Species with no ortholog for MSH5:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • chicken (Gallus gallus)
  • 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 MSH5 Gene

Gene Tree for MSH5 (if available)
Gene Tree for MSH5 (if available)

Paralogs for MSH5 Gene

Paralogs for MSH5 Gene

genes like me logo Genes that share paralogs with MSH5: view

Variants for MSH5 Gene

Sequence variations from dbSNP and Humsavar for MSH5 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
VAR_025082 -
VAR_025083 -
VAR_025084 -
VAR_025085 -
VAR_025086 -

Structural Variations from Database of Genomic Variants (DGV) for MSH5 Gene

Variant ID Type Subtype PubMed ID
nsv884418 CNV Gain 21882294
nsv819978 CNV Loss 19587683
dgv6582n71 CNV Loss 21882294
dgv6583n71 CNV Loss 21882294

Variation tolerance for MSH5 Gene

Residual Variation Intolerance Score: 13.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.61; 78.18% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MSH5 Gene

Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MSH5 Gene

Disorders for MSH5 Gene

MalaCards: The human disease database

(3) MalaCards diseases for MSH5 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
premature ovarian failure
  • premature menopause
common variable immunodeficiency
  • acquired agammaglobulinemia
muir-torre syndrome
  • cutaneous sebaceous neoplasms and keratoacanthomas multiple with gastrointestinal and other carcinomas
- elite association - COSMIC cancer census association via MalaCards
Search MSH5 in MalaCards View complete list of genes associated with diseases

Relevant External Links for MSH5

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with MSH5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MSH5 Gene

Publications for MSH5 Gene

  1. Cloning, structural characterization, and chromosomal localization of the human orthologue of Saccharomyces cerevisiae MSH5 gene. (PMID: 9740671) Her C. … Doggett N.A. (Genomics 1998) 2 3 4 23 67
  2. 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) 2 3 23
  3. hMSH4-hMSH5 adenosine nucleotide processing and interactions with homologous recombination machinery. (PMID: 17977839) Snowden T. … Fishel R. (J. Biol. Chem. 2008) 2 3
  4. Genetic investigation of four meiotic genes in women with premature ovarian failure. (PMID: 18166824) Mandon-PAcpin B. … Fellous M. (Eur. J. Endocrinol. 2008) 3 23
  5. Spermatogenesis-specific association of SMCY and MSH5. (PMID: 18459961) Akimoto C. … Kato S. (Genes Cells 2008) 3 23

Products for MSH5 Gene

Sources for MSH5 Gene