ENSG00000113318


Homo sapiens

Features
Gene ID: ENSG00000113318
  
Biological name :MSH3
  
Synonyms : MSH3 / mutS homolog 3 / P20585
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 5
Strand: 1
Band: q14.1
Gene start: 80654648
Gene end: 80876460
  
Corresponding Affymetrix probe sets: 205887_x_at (Human Genome U133 Plus 2.0 Array)   210947_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000265081
NCBI entrez gene - 4437     See in Manteia.
OMIM - 600887
RefSeq - NM_002439
RefSeq Peptide - NP_002430
swissprot - P20585
Ensembl - ENSG00000113318
  
Related genetic diseases (OMIM): 608089 - Endometrial carcinoma, somatic, 608089
  617100 - Familial adenomatous polyposis 4, 617100
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 msh3ENSDARG00000063276Danio rerio
 MSH3ENSGALG00000015589Gallus gallus
 Msh3ENSMUSG00000014850Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR000432  DNA mismatch repair protein MutS, C-terminal
 IPR007695  DNA mismatch repair protein MutS-like, N-terminal
 IPR007696  DNA mismatch repair protein MutS, core
 IPR007860  DNA mismatch repair protein MutS, connector domain
 IPR016151  DNA mismatch repair protein MutS, N-terminal
 IPR017261  DNA mismatch repair protein MutS/MSH
 IPR027417  P-loop containing nucleoside triphosphate hydrolase
 IPR036187  DNA mismatch repair protein MutS, core domain superfamily
 IPR036678  MutS, connector domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006281 DNA repair IDA
 biological_processGO:0006298 mismatch repair IMP
 biological_processGO:0006974 cellular response to DNA damage stimulus IEA
 biological_processGO:0016447 somatic recombination of immunoglobulin gene segments IBA
 biological_processGO:0043570 maintenance of DNA repeat elements IMP
 biological_processGO:0045910 negative regulation of DNA recombination IDA
 biological_processGO:0051096 positive regulation of helicase activity IDA
 cellular_componentGO:0005654 nucleoplasm TAS
 cellular_componentGO:0016020 membrane HDA
 cellular_componentGO:0032302 MutSbeta complex IDA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0000403 Y-form DNA binding IBA
 molecular_functionGO:0000404 heteroduplex DNA loop binding IBA
 molecular_functionGO:0000406 double-strand/single-strand DNA junction binding IBA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003684 damaged DNA binding IBA
 molecular_functionGO:0003697 single-stranded DNA binding IDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0008094 DNA-dependent ATPase activity IBA
 molecular_functionGO:0019899 enzyme binding IPI
 molecular_functionGO:0030983 mismatched DNA binding IDA
 molecular_functionGO:0032139 dinucleotide insertion or deletion binding IDA
 molecular_functionGO:0032142 single guanine insertion binding IDA
 molecular_functionGO:0032181 dinucleotide repeat insertion binding IDA


Pathways (from Reactome)
Pathway description
Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta)
Defective Mismatch Repair Associated With MSH3
Defective Mismatch Repair Associated With MSH2


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000854 Thyroid adenoma 
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 HP:0009592 Astrocytoma "Astrocytoma is a neoplasm of the central nervous system derived from astrocytes." [HPO:curators]
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 HP:0012114 Endometrial carcinoma "A carcinoma of the endometrium, the mucous lining of the uterus." [HPO:probinson]
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 HP:0012126 Stomach cancer "A cancer arising in any part of the stomach." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000095002 MSH2 / P43246 / mutS homolog 2  / complex / reaction
 ENSG00000076242 MLH1 / P40692 / mutL homolog 1  / complex / reaction
 ENSG00000122512 PMS2 / P54278 / PMS1 homolog 2, mismatch repair system component  / complex / reaction
 ENSG00000132646 PCNA / P12004 / proliferating cell nuclear antigen  / complex / reaction
 ENSG00000174371 EXO1 / Q9UQ84 / exonuclease 1  / reaction






 

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