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
  • 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
  • GC06P031921
  • GC06P031962
  • GC06P032026

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 13 and Common Variable Immunodeficiency. Among its related pathways are Cell Cycle, Mitotic and Meiosis. Gene Ontology (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 DNA mismatch repair and meiotic recombination processes. Facilitates crossovers between homologs during meiosis (By similarity).

Gene Wiki entry for MSH5 Gene

Additional gene information 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

GeneHancer (GH) Regulatory Elements for MSH5 Gene

Promoters and enhancers for MSH5 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J031733 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 712.1 -2.5 -2493 8.5 CLOCK MLX ZFP64 YBX1 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 MSH5 CLIC1 MSH5-SAPCD1 DDX39B LY6G5B ATF6B LSM2 SKIV2L CSNK2B GPANK1
GH06J031538 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 71.6 -198.8 -198809 4.9 MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 ZNF263 DDX39B DDX39B-AS1 GC06M031542 GC06M031543 GC06M031550 GC06M031555 GC06M031573 GC06M032007 GC06M032013 GC06M032015
GH06J031813 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 60.8 +85.9 85928 25.6 CLOCK ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 C6orf48 HSPA1B HSPA1A HSPA1L GC06P032216 ATF6B DDX39B LY6G5B BAG6 LSM2
GH06J031662 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 58.5 -74.9 -74902 5 MLX ZFP64 YBX1 DMAP1 YY1 SLC30A9 E2F8 ZNF143 ZNF263 SP3 CSNK2B GPANK1 GC06P032214 ENSG00000263020 ENSG00000201207 DDX39B LY6G5B ATF6B MDC1 GTF2H4
GH06J030907 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 63.1 -831.5 -831491 2.2 CLOCK DMAP1 YBX1 IRF4 YY1 ZNF213 E2F8 ZNF416 ZNF143 ZNF548 GTF2H4 VARS2 GC06P032276 MDC1 DDX39B LY6G5B LSM2 TRIM39 DHX16 PPP1R10
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MSH5 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MSH5 gene promoter:
  • p53
  • Sp1
  • GATA-2

Genomic Locations for MSH5 Gene

Genomic Locations for MSH5 Gene
22,887 bases
Plus strand
24,898 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 isoforms=2, 3, 4584 and isoforms=2, 3, 4105
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for MSH5 Gene

Domains & Families for MSH5 Gene

Gene Families for MSH5 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

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

UniProtKB/Swiss-Prot Function:
Involved in DNA mismatch repair and meiotic recombination processes. Facilitates crossovers between homologs during meiosis (By similarity).
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

Phenotypes From GWAS Catalog for MSH5 Gene

Gene Ontology (GO) - Molecular Function for MSH5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0003684 NOT damaged DNA binding IBA --
GO:0005515 protein binding IPI 16397227
GO:0005524 ATP binding IEA --
GO:0008094 DNA-dependent ATPase activity IBA --
genes like me logo Genes that share ontologies with MSH5: view
genes like me logo Genes that share phenotypes with MSH5: view

Human Phenotype Ontology for MSH5 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MSH5 Gene

MGI Knock Outs for MSH5:

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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
nucleus 4
mitochondrion 2
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MSH5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000228 nuclear chromosome IBA --
GO:0000795 synaptonemal complex IBA --
GO:0032300 NOT mismatch repair complex IBA --
genes like me logo Genes that share ontologies with MSH5: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot 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:0006281 DNA repair IEA --
GO:0006298 mismatch repair IBA,IEA --
GO:0006974 cellular response to DNA damage stimulus IEA --
GO:0007131 reciprocal meiotic recombination IBA --
GO:0045143 homologous chromosome segregation IBA --
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

mRNA/cDNA for MSH5 Gene

Unigene Clusters for MSH5 Gene

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

Clone 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 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: Widely expressed, with high levels in testis and ovary, including granulosa cells (PubMed:9740671, PubMed:28175301). Also expressed in fetal ovary and adrenal gland (PubMed:28175301).

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

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 33
  • 99.6 (n)
-- 34
  • 97 (a)
(Bos Taurus)
Mammalia MSH5 34 33
  • 90.3 (n)
(Canis familiaris)
Mammalia MSH5 34 33
  • 88.56 (n)
(Mus musculus)
Mammalia Msh5 16 34 33
  • 87.09 (n)
(Rattus norvegicus)
Mammalia Msh5 33
  • 86.63 (n)
(Monodelphis domestica)
Mammalia -- 34
  • 78 (a)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 70 (a)
-- 34
  • 64 (a)
-- 34
  • 60 (a)
(Anolis carolinensis)
Reptilia -- 34
  • 66 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia msh5 33
  • 61.42 (n)
(Danio rerio)
Actinopterygii msh5 33
  • 59.29 (n)
MSH5 34
  • 53 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002642 33
  • 46.38 (n)
(Caenorhabditis elegans)
Secernentea msh-5 34 35 33
  • 42.09 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MSH5 34 33
  • 42.96 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C16423g 33
  • 40.67 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons MSH5 33
  • 44.12 (n)
(Oryza sativa)
Liliopsida Os05g0498300 33
  • 45.43 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU09384 33
  • 45.13 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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)
Evolutionary constrained regions (ECRs) for MSH5: view image

Paralogs for MSH5 Gene

Paralogs for MSH5 Gene

(3) SIMAP similar genes for MSH5 Gene using alignment to 10 proteins:

  • H7C2J4_HUMAN
  • H7C572_HUMAN
  • H7C5D6_HUMAN
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 Variation AA Info Type
rs1060505055 pathogenic, Premature ovarian failure 13 31,759,476(+) G/T coding_sequence_variant, missense_variant
rs752657544 Premature ovarian failure 13 (POF13) [MIM:617442] 31,761,541(+) A/G coding_sequence_variant, missense_variant
VAR_078116 Premature ovarian failure 13 (POF13) [MIM:617442] p.Leu353Met
VAR_078117 Premature ovarian failure 13 (POF13) [MIM:617442] p.Asp487Tyr
rs2075789 benign, not specified 31,740,551(+) C/T coding_sequence_variant, missense_variant

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)

Additional Variant Information for MSH5 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

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

Disorders for MSH5 Gene

MalaCards: The human disease database

(2) MalaCards diseases for MSH5 Gene - From: HGMD, OMIM, ClinVar, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
premature ovarian failure 13
  • pof13
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


  • Premature ovarian failure 13 (POF13) [MIM:617442]: An ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol. {ECO:0000269 PubMed:28175301}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for MSH5

Genetic Association Database
Human Genome Epidemiology 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 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 NA (Genomics 1998) 2 3 4 22 58
  2. Cloning and characterization of the human and Caenorhabditis elegans homologs of the Saccharomyces cerevisiae MSH5 gene. (PMID: 9787078) Winand NJ … Kolodner RD (Genomics 1998) 2 3 4 22 58
  3. Genetic investigation of four meiotic genes in women with premature ovarian failure. (PMID: 18166824) Mandon-Pépin B … Fellous M (European journal of endocrinology 2008) 3 22 44 58
  4. Mutations in MSH5 in primary ovarian insufficiency. (PMID: 28175301) Guo T … Chen ZJ (Human molecular genetics 2017) 3 4 58
  5. Evaluation of 172 candidate polymorphisms for association with oligozoospermia or azoospermia in a large cohort of men of European descent. (PMID: 20378615) Aston KI … Carrell DT (Human reproduction (Oxford, England) 2010) 3 44 58

Products for MSH5 Gene