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
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 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).
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
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around MSH5 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the MSH5 gene promoter:
Regulatory Element Products
Genomic Location for MSH5 Gene
- Chromosome:
- 6
- Start:
- 31,739,948 bp from pter
- End:
- 31,762,834 bp from pter
- Size:
- 22,887 bases
- Orientation:
- Plus strand
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
-
Custom Antibody ServicesOriGene Antibodies for MSH5
- Novus Biologicals Antibodies for MSH5
- Invitrogen Antibodies for MSH5
- antibodies-online Antibodies for MSH5: See all 52
- GeneTex MSH5 antibody for MSH5
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for MSH5
- Origene Custom Protein Services for MSH5
- antibodies-online Proteins for MSH5: See all 5
- Search antibodies-online for peptides
- Search GeneTex for Proteins for MSH5
No data available for DME Specific Peptides for MSH5 Gene
Domains & Families for MSH5 Gene
Gene Families for MSH5 Gene
- HGNC:
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 meiotic recombination. Facilitate crossovers between homologs during meiosis (By similarity).
| 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 | -- |
Phenotypes for MSH5 Gene
- MGI mutant phenotypes for MSH5:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for MSH5:
Animal Model Products
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-
-
ViGene Biosciences lentiviral particle packaged cDNA for MSH5 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for MSH5 gene
- Search ViGene Biosciences for MSH5
CRISPR Products
-
OriGene CRISPR knockouts for MSH5
-
Santa Cruz Biotechnology (SCBT) CRISPR for MSH5
- GenScript: Design CRISPR guide RNA sequences for MSH5
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
- Search ViGene Biosciences for MSH5
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for MSH5
- Browse OriGene Inhibitory RNA Products For MSH5
-
ViGene Biosciences ready-to-package AAV shRNAs for MSH5 gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for MSH5
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for MSH5
-
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
Cell Line Products
-
Horizon Cell Lines for MSH5
-
ViGene Biosciences adenoviral particle packaged cDNA for MSH5 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for MSH5 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for MSH5 gene
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MSH5 Gene
Localization 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
| 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:0006298 | mismatch repair | IEA | -- |
| 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
-
Santa Cruz Biotechnology (SCBT) CRISPR for MSH5
- GenScript: Design CRISPR guide RNA sequences for MSH5
miRNA Products
- Search ViGene Biosciences for MSH5
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for MSH5
- Browse OriGene Inhibitory RNA Products For MSH5
-
ViGene Biosciences ready-to-package AAV shRNAs for MSH5 gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for MSH5
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for MSH5
-
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
Expression for MSH5 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Ovary (Reproductive System)
- Primary Oocyte Primordial Follicle
-
Gonad
- Primary Oocyte Primordial Follicle
- Blood (Hematopoietic System)
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:
Ubiquitous, but highly expressed in testis, and thymus.
Evidence on tissue expression from TISSUES for MSH5 Gene
- Skin(4.2)
- Kidney(4.1)
Primer Products
-
OriGene qPCR primer pairs for MSH5
-
OriGene qPCR primer pairs and template standards for MSH5
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 34 |
|
||
| -- 35 |
|
OneToMany | |||
| cow (Bos Taurus) |
Mammalia | MSH5 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | MSH5 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Msh5 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Msh5 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | -- 35 |
|
OneToMany | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 35 |
|
ManyToMany | |
| -- 35 |
|
ManyToMany | |||
| -- 35 |
|
ManyToMany | |||
| lizard (Anolis carolinensis) |
Reptilia | -- 35 |
|
OneToMany | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | msh5 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | msh5 34 |
|
||
| MSH5 35 |
|
OneToMany | |||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP002642 34 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | msh-5 36 34 35 |
|
||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | MSH5 34 35 |
|
||
| K. lactis yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0C16423g 34 |
|
||
| thale cress (Arabidopsis thaliana) |
eudicotyledons | MSH5 34 |
|
||
| rice (Oryza sativa) |
Liliopsida | Os05g0498300 34 |
|
||
| bread mold (Neurospora crassa) |
Ascomycetes | NCU09384 34 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 35 |
|
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 | 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 |
| 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)
Relevant External Links for MSH5 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MSH5 Gene
Disorders for MSH5 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| premature ovarian failure |
|
|
| muir-torre syndrome |
|
|
| common variable immunodeficiency |
|
|
Search MSH5 in MalaCards
View complete list of genes associated with diseases
Relevant External Links for MSH5
No data available for UniProtKB/Swiss-Prot and 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 N.A. (Genomics 1998) 2 3 4 22 64
- 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
- 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
- Examination of genetic polymorphisms in newborns for signatures of sex-specific prenatal selection. (PMID: 20587610) Ucisik-Akkaya E. … Dorak M.T. (Mol. Hum. Reprod. 2010) 3 46 64
- 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
Products for MSH5 Gene
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- Custom Antibody ServicesOriGene Antibodies for MSH5
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- antibodies-online Antibodies for MSH5: See all 52
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- antibodies-online Proteins for MSH5: See all 5
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- GeneTex MSH5 antibody for MSH5
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- ViGene Biosciences adenoviral particle packaged cDNA for MSH5 gene
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- Horizon Cell Lines for MSH5
- Cyagen custom Knockout/knockin (KOKI) mouse models for MSH5
- VectorBuilder custom plasmid, inducible vectors for MSH5
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for MSH5
- 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
Sources for MSH5 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
- (101) HOMER
- (102) PaxDb
- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
- (108) SwitchGear Genomics
- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
- (112) GeneTex
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- (136) ViGene Biosciences
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- (141) ENCODE
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- (146) Cyagen
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- (148) SNPedia
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- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer