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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
  • GC06P031921

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 Meiosis and Ovarian Infertility Genes. 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

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
GH06H031733 1.9 FANTOM5 ENCODE dbSUPER 36.8 -2.5 -2494 8.5 MLX ZFP64 YBX1 FEZF1 DMAP1 YY1 SLC30A9 SP3 NFYC ZC3H11A LY6G5B ATF6B DDX39B LSM2 CSNK2B GPANK1 VARS NFKBIL1 SKIV2L MSH5
GH06H030907 1.2 ENCODE 54.5 -831.5 -831491 2.2 DMAP1 YBX1 YY1 ZNF416 ZNF143 ZNF548 SP3 NFYC ZC3H11A MEF2D MDC1 GTF2H4 TRIM39 LY6G5B LSM2 DDX39B HCG18 PPP1R10 ENSG00000233892 DHX16
GH06H031538 1.4 ENCODE dbSUPER 46.4 -198.8 -198810 4.9 MLX ZFP64 FEZF1 DMAP1 YY1 ZNF143 SP3 MCM3 PPARGC1A MEF2D ATF6B LSM2 LY6G5B DDX39B MDC1 PPP1R10 NRM DHX16 MSH5 TCF19
GH06H031792 2 FANTOM5 Ensembl ENCODE dbSUPER 31.9 +55.7 55747 6.7 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 CBX5 ATF6B LSM2 BAG6 LY6G5B MSH5 SKIV2L DDX39B VARS CSNK2B C4A
GH06H031829 1.4 ENCODE dbSUPER 43.6 +94.2 94209 9.1 ZFP64 DMAP1 YY1 SLC30A9 ZNF143 SP3 ZC3H11A MEF2D GLIS1 NBN ATF6B LY6G5B DDX39B LSM2 CSNK2B MSH5 SKIV2L BAG6 VARS GPANK1
- 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 HDGF PKNOX1 FOXA2 MLX ARNT ZFP64 SIN3A FEZF1 DMAP1 ZNF2

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

Genomic Locations for MSH5 Gene

Genomic Locations for MSH5 Gene
chr6:31,739,948-31,762,834
(GRCh38/hg38)
Size:
22,887 bases
Orientation:
Plus strand
chr6:31,707,725-31,732,622
(GRCh37/hg19)

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:
    O43196-MSH5_HUMAN
    Recommended name:
    MutS protein homolog 5
    Protein Accession:
    O43196
    Secondary Accessions:
    • B0V033
    • B0V034
    • O60586
    • Q5BLU9
    • Q5SSR1
    • Q8IW44
    • Q9BQC7

    Protein attributes for MSH5 Gene

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

    Alternative splice isoforms for MSH5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MSH5 Gene

Post-translational modifications for MSH5 Gene

  • Ubiquitination at posLast=105105 and posLast=584584
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for MSH5 Gene

Domains & Families for MSH5 Gene

Gene Families for MSH5 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

Graphical View of Domain Structure for InterPro Entry

O43196

UniProtKB/Swiss-Prot:

MSH5_HUMAN :
  • Belongs to the DNA mismatch repair MutS family.
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 DNA mismatch repair and meiotic recombination processes. Facilitates crossovers between homologs during meiosis (By similarity).

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

Animal Models for MSH5 Gene

MGI Knock Outs for MSH5:

Animal Model Products

Clone 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

COMPARTMENTS
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: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 IEA,IBA --
GO:0006974 cellular response to DNA damage stimulus IEA --
GO:0051026 chiasma assembly IBA --
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:

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
MSH5
ECgene alternative splicing isoforms for
MSH5

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:

MSH5

SOURCE GeneReport for Unigene cluster for MSH5 Gene:

Hs.647011

mRNA Expression by UniProt/SwissProt for MSH5 Gene:

O43196-MSH5_HUMAN
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
chimpanzee
(Pan troglodytes)
Mammalia MSH5 33
  • 99.6 (n)
-- 34
  • 97 (a)
OneToMany
cow
(Bos Taurus)
Mammalia MSH5 33 34
  • 90.3 (n)
dog
(Canis familiaris)
Mammalia MSH5 33 34
  • 88.56 (n)
mouse
(Mus musculus)
Mammalia Msh5 33 16 34
  • 87.09 (n)
rat
(Rattus norvegicus)
Mammalia Msh5 33
  • 86.63 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 78 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 70 (a)
ManyToMany
-- 34
  • 64 (a)
ManyToMany
-- 34
  • 60 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 66 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia msh5 33
  • 61.42 (n)
zebrafish
(Danio rerio)
Actinopterygii msh5 33
  • 59.29 (n)
MSH5 34
  • 53 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002642 33
  • 46.38 (n)
worm
(Caenorhabditis elegans)
Secernentea msh-5 35 33 34
  • 42.09 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MSH5 33 34
  • 42.96 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C16423g 33
  • 40.67 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons MSH5 33
  • 44.12 (n)
rice
(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)
OneToMany
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

ENSEMBL:
Gene Tree for MSH5 (if available)
TreeFam:
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
rs752657544 Premature ovarian failure 13 (POF13) [MIM:617442] 31,761,541(+) CCCAC(A/G)TCTTT nc-transcript-variant, upstream-variant-2KB, reference, missense
VAR_078116 Premature ovarian failure 13 (POF13) [MIM:617442]
VAR_078117 Premature ovarian failure 13 (POF13) [MIM:617442]
rs1000273001 -- 31,753,093(+) TAGAC(A/G)CAATT intron-variant
rs1000398315 -- 31,738,731(+) TGGGC(-/T)TGGTA intron-variant, upstream-variant-2KB

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

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

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)
MSH5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MSH5

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

UniProtKB/Swiss-Prot

MSH5_HUMAN
  • 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.

Relevant External Links for MSH5

Genetic Association Database (GAD)
MSH5
Human Genome Epidemiology (HuGE) Navigator
MSH5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MSH5
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 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 60
  2. 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 60
  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 45 60
  4. Mutations in MSH5 in Primary Ovarian Insufficiency. (PMID: 28175301) Guo T … Chen ZJ (Human molecular genetics 2017) 3 4 60
  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 45 60

Products for MSH5 Gene

Sources for MSH5 Gene