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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
  • MutS Protein Homolog 5 3
  • MUTSH5 3
  • POF13 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
  • GC06P031781
  • GC06P031860
  • GC06P031888

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 Muir-Torre Syndrome. Among its related pathways are Meiosis and Cell Cycle, Mitotic. 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 CIViC summary , 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06G031829 1.4 ENCODE dbSUPER 11.6 +94.2 94209 9.1 CREB3L1 AGO1 ZFP64 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 MEF2D LSM2 LY6G5B ATF6B DDX39B SKIV2L VARS LY6G6C GTF2H4 CSNK2B BAG6
GH06G031861 1.2 ENCODE 10.7 +124.2 124168 4.5 MLX CREB3L1 AGO1 ZFP64 YBX1 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 LSM2 LY6G5B MICA PPT2 C4A GTF2H4 DDX39B STK19B LY6G5C PRRT1
GH06G031910 1.2 Ensembl ENCODE 10.4 +171.2 171230 2.0 ARID4B GTF3C2 GLIS2 FOS ZNF263 MXD4 JUNB SSRP1 SMARCA4 GLIS1 SKIV2L C4A LY6G5B VARS HLA-DRB5 LSM2 RNU6-850P HLA-C ATF6B DDX39B
GH06G031928 1 ENCODE 10.4 +189.5 189528 1.2 PKNOX1 AGO1 ZFP64 ARID4B SIN3A ZNF2 YY1 ZNF766 ZNF143 ZNF207 SKIV2L LY6G5B ATF6B DDX39B NFKBIL1 LSM2 PPT2 MIR1236 TCF19 STK19
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MSH5 on UCSC Golden Path with GeneCards custom track

Promoters for MSH5 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000195589 252 1201 MLX CREB3L1 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF263 SP3 NFYC

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

Post-translational modifications for MSH5 Gene

  • Ubiquitination at Lys105 and Lys584
  • 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:0003677 DNA binding IEA --
GO:0005515 protein binding IPI 16397227
GO:0005524 ATP binding IEA --
GO:0030983 mismatched DNA 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

CRISPR Products

Inhibitory RNA 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

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
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

GO ID Qualified GO term Evidence PubMed IDs
GO:0006298 mismatch repair IEA --
GO:0051321 meiotic cell cycle IEA --
genes like me logo Genes that share ontologies with MSH5: view

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:

CRISPR Products

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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

NURSA nuclear receptor signaling pathways regulating expression of MSH5 Gene:


SOURCE GeneReport for Unigene cluster for MSH5 Gene:


mRNA Expression by UniProt/SwissProt for MSH5 Gene:

Tissue specificity: Ubiquitous, but highly expressed in testis, and thymus.

Evidence on tissue expression from TISSUES for MSH5 Gene

  • Skin(4.2)
  • Kidney(4.1)
genes like me logo Genes that share expression patterns with MSH5: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
(Pan troglodytes)
Mammalia MSH5 34
  • 99.6 (n)
-- 35
  • 97 (a)
(Bos Taurus)
Mammalia MSH5 34 35
  • 90.3 (n)
(Canis familiaris)
Mammalia MSH5 34 35
  • 88.56 (n)
(Mus musculus)
Mammalia Msh5 34 16 35
  • 87.09 (n)
(Rattus norvegicus)
Mammalia Msh5 34
  • 86.63 (n)
(Monodelphis domestica)
Mammalia -- 35
  • 78 (a)
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 70 (a)
-- 35
  • 64 (a)
-- 35
  • 60 (a)
(Anolis carolinensis)
Reptilia -- 35
  • 66 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia msh5 34
  • 61.42 (n)
(Danio rerio)
Actinopterygii msh5 34
  • 59.29 (n)
MSH5 35
  • 53 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002642 34
  • 46.38 (n)
(Caenorhabditis elegans)
Secernentea msh-5 36 34 35
  • 42.09 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MSH5 34 35
  • 42.96 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C16423g 34
  • 40.67 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons MSH5 34
  • 44.12 (n)
(Oryza sativa)
Liliopsida Os05g0498300 34
  • 45.43 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU09384 34
  • 45.13 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 41 (a)
Species where no ortholog for MSH5 was found in the sources mined by GeneCards:
  • 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
rs1000273001 -- 31,753,093(+) TAGAC(A/G)CAATT intron-variant
rs1000398315 -- 31,738,731(+) TGGGC(-/T)TGGTA intron-variant, upstream-variant-2KB
rs1000439216 -- 31,740,156(+) TGGCA(A/G)AGGCA intron-variant, upstream-variant-2KB, utr-variant-5-prime
rs1000871989 -- 31,739,268(+) CTCTC(-/T)TGTCT nc-transcript-variant, upstream-variant-2KB
rs1000872130 -- 31,739,921(+) CTCTA(C/G)GCTGG nc-transcript-variant, upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
dgv10403n54 CNV loss 21841781
dgv10404n54 CNV loss 21841781
esv2763547 CNV loss 21179565
esv3608568 CNV loss 21293372
nsv1073969 CNV deletion 25765185
nsv1112900 CNV deletion 24896259
nsv1126749 CNV deletion 24896259
nsv819978 CNV loss 19587683

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)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

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
muir-torre syndrome
  • keratoacanthoma
common variable immunodeficiency
  • acquired agammaglobulinemia
- 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 22 64
  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 4 22 64
  3. Genetic investigation of four meiotic genes in women with premature ovarian failure. (PMID: 18166824) Mandon-PAcpin B. … Fellous M. (Eur. J. Endocrinol. 2008) 3 22 46 64
  4. The role of MSH5 C85T and MLH3 C2531T polymorphisms in the risk of male infertility with azoospermia or severe oligozoospermia. (PMID: 19808033) Xu K. … Xiang Y. (Clin. Chim. Acta 2010) 3 46 64
  5. Evaluation of 172 candidate polymorphisms for association with oligozoospermia or azoospermia in a large cohort of men of European descent. (PMID: 20378615) Aston K.I. … Carrell D.T. (Hum. Reprod. 2010) 3 46 64

Products for MSH5 Gene

Sources for MSH5 Gene

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