Aliases for MSH5 Gene
Aliases for MSH5 Gene
External Ids for MSH5 Gene
- HGNC: 7328
- Entrez Gene: 4439
- Ensembl: ENSG00000204410
- OMIM: 603382
- UniProtKB: O43196
Previous GeneCards Identifiers for MSH5 Gene
- GC06P031771
- GC06P031478
- GC06P031812
- GC06P031815
- GC06P031707
- GC06P031740
- GC06P031745
- GC06P031781
- GC06P031860
- GC06P031888
- GC06P031921
- GC06P031962
Summaries 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 Ovarian Infertility Genes 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).
Additional gene information for MSH5 Gene
- Monarch Initiative
- Search for MSH5 at DataMed
- Search for MSH5 at HumanCyc
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
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around MSH5 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the MSH5 gene promoter:
Regulatory Element Products
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:
-
- 6p21.33 by Ensembl
- 6p21.33 by Entrez Gene
- 6p21.33 by HGNC
MSH5 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for MSH5 Gene
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
- 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.
Protein Expression for MSH5 Gene
Post-translational modifications for MSH5 Gene
Other Protein References for MSH5 Gene
Antibody Products
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- Novus Biologicals Antibodies for MSH5
-
Abcam antibodies for MSH5
- Invitrogen Antibodies for MSH5
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Protein Products
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-
Abcam proteins for MSH5
Assay Products
- antibodies-online: Search results for available MSH5 related products ranked by validation data
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):
-
- Disease related genes
- Plasma proteins
- Predicted intracellular proteins
- Predicted secreted proteins
Protein Domains for MSH5 Gene
Suggested Antigen Peptide Sequences for MSH5 Gene
Graphical View of Domain Structure for InterPro Entry
O43196- Family:
-
- Belongs to the DNA mismatch repair MutS family.
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
| 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 | -- |
Phenotypes for MSH5 Gene
- MGI mutant phenotypes for MSH5:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for MSH5:
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-
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miRNA for MSH5 Gene
- miRTarBase miRNAs that target MSH5
-
- hsa-mir-6738-3p (MIRT656141)
- hsa-mir-544a (MIRT656142)
- hsa-mir-6736-5p (MIRT656143)
- hsa-mir-4701-3p (MIRT656144)
- hsa-mir-1262 (MIRT656145)
- hsa-mir-6842-3p (MIRT656146)
- hsa-mir-647 (MIRT656147)
- hsa-mir-6828-3p (MIRT656148)
- hsa-mir-6071 (MIRT656149)
- hsa-mir-5787 (MIRT656150)
- hsa-mir-4505 (MIRT656151)
- hsa-mir-4430 (MIRT656152)
- hsa-mir-3652 (MIRT656153)
- hsa-mir-5589-5p (MIRT656154)
- hsa-mir-6776-5p (MIRT656155)
- hsa-mir-3692-5p (MIRT656156)
- hsa-mir-93-3p (MIRT656157)
miRNA Products
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- Mammalian expression: PiggyBac
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- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
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No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for MSH5 Gene
Localization for MSH5 Gene
| Compartment | Confidence |
|---|---|
| nucleus | 4 |
| mitochondrion | 2 |
| cytosol | 1 |
- Endoplasmic reticulum (2)
- Vesicles (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000795 | synaptonemal complex | IBA | -- |
| GO:0032300 | NOT mismatch repair complex | IBA | -- |
No data available for Subcellular locations from UniProtKB/Swiss-Prot for MSH5 Gene
Pathways & Interactions for MSH5 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Meiosis |
.73
|
|
| 2 | Cell Cycle, Mitotic |
.83
|
|
| 3 | Ovarian Infertility Genes | ||
Pathways by source for MSH5 Gene
1 BioSystems pathway for MSH5 Gene
3 Reactome pathways for MSH5 Gene
Interacting Proteins for MSH5 Gene
Selected Interacting proteins:
ENSP00000364855
O43196-MSH5_HUMAN
for MSH5 Gene via
STRING
MINT
IID
UniProtKB
| 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 | -- |
No data available for SIGNOR curated interactions for MSH5 Gene
Transcripts for MSH5 Gene
mRNA/cDNA for MSH5 Gene
- (4) REFSEQ mRNAs :
- (10) Additional mRNA sequences :
- (185) Selected AceView cDNA sequences:
- (19) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for MSH5 Gene
CRISPR Products
-
OriGene CRISPR knockouts for MSH5
- genomics-online: gRNA clones - Search results for 156 available MSH5 gene related products
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Recommended
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-
Vectors and viruses for KO, Activation, Repression, and more
-
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miRNA Products
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Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for MSH5
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- Overview of 156 available MSH5 gene related products
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Recommended
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Clone Products
- VectorBuilder custom plasmid, inducible vectors for MSH5
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-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for 156 available MSH5 gene related products
- Overview of 156 available MSH5 gene related products
-
Recommended
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- Overview of 156 available MSH5 gene related products
-
Recommended
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-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for MSH5 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Blood (Hematopoietic System)
-
Gonad
- Primary Oocyte Primordial Follicle
-
Ovary (Reproductive System)
- Primary Oocyte Primordial Follicle
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:
MSH5SOURCE GeneReport for Unigene cluster for MSH5 Gene:
Hs.647011mRNA 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)
Primer Products
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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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | MSH5 33 |
|
||
| -- 34 |
|
OneToMany | |||
| cow (Bos Taurus) |
Mammalia | MSH5 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | MSH5 33 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Msh5 33 16 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Msh5 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | -- 34 |
|
OneToMany | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 34 |
|
ManyToMany | |
| -- 34 |
|
ManyToMany | |||
| -- 34 |
|
ManyToMany | |||
| lizard (Anolis carolinensis) |
Reptilia | -- 34 |
|
OneToMany | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | msh5 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | msh5 33 |
|
||
| MSH5 34 |
|
OneToMany | |||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP002642 33 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | msh-5 35 33 34 |
|
||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | MSH5 33 34 |
|
||
| K. lactis yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0C16423g 33 |
|
||
| thale cress (Arabidopsis thaliana) |
eudicotyledons | MSH5 33 |
|
||
| rice (Oryza sativa) |
Liliopsida | Os05g0498300 33 |
|
||
| bread mold (Neurospora crassa) |
Ascomycetes | NCU09384 33 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
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)
Paralogs for MSH5 Gene
Paralogs for MSH5 Gene
(3) SIMAP similar genes for MSH5 Gene using alignment to 10 proteins:
Variants 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 |
| 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MSH5 Gene
Disorders for MSH5 Gene
(2) MalaCards diseases for MSH5 Gene - From: HGMD, OMIM, ClinVar, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| premature ovarian failure 13 |
|
|
| common variable immunodeficiency |
|
|
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.
Additional Disease Information for MSH5
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for MSH5 Gene
Publications for MSH5 Gene
- 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
- 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
- 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
- Mutations in MSH5 in primary ovarian insufficiency. (PMID: 28175301) Guo T … Chen ZJ (Human molecular genetics 2017) 3 4 58
- Examination of genetic polymorphisms in newborns for signatures of sex-specific prenatal selection. (PMID: 20587610) Ucisik-Akkaya E … Dorak MT (Molecular human reproduction 2010) 3 44 58
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- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for 58 available MSH5 Antibodies ranked by validation data
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- genomics-online: gRNA clones - Search results for 156 available MSH5 gene related products
- Overview of 156 available MSH5 gene related products
- Recommended
- genomics-online: primer clones - Search results for 156 available MSH5 gene related products
- Overview of 156 available MSH5 gene related products
- Recommended
- genomics-online: shRNA clones - Search results for 156 available MSH5 gene related products
- Overview of 156 available MSH5 gene related products
- Recommended
Sources for MSH5 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4)