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This locus is frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). When cloned, it was discovered to be a human homolog of the E. coli mismatch repair gene mutS, consistent with the characteristic alterations in microsatellite sequences (RER+ phenotype) found in HNPCC. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
MSH2 (MutS Homolog 2) is a Protein Coding gene. Diseases associated with MSH2 include Muir-Torre Syndrome and Lynch Syndrome I. Among its related pathways are Immune response IL-23 signaling pathway and Regulation of TP53 Activity. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and enzyme binding. An important paralog of this gene is MSH6.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000287 | contributes_to magnesium ion binding | IDA | 16403449 |
GO:0000400 | contributes_to four-way junction DNA binding | IDA | 12034830 |
GO:0000406 | double-strand/single-strand DNA junction binding | IBA | 21873635 |
GO:0003677 | DNA binding | IDA | 7923193 |
GO:0003682 | chromatin binding | IDA | 26300262 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000784 | nuclear chromosome, telomeric region | HDA | 19135898 |
GO:0005634 | nucleus | IBA,IDA | 26300262 |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0005694 | chromosome | IEA | -- |
GO:0016020 | membrane | HDA | 19946888 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Mismatch repair |
.54
Mismatch Repair in Eukaryotes
.54
.01
|
.01
|
2 | Gene Expression |
.48
|
|
3 | DNA Damage | ||
4 | Endometrial cancer | ||
5 | Pathways in cancer |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001701 | in utero embryonic development | IEA | -- |
GO:0002204 | somatic recombination of immunoglobulin genes involved in immune response | IBA | 21873635 |
GO:0006119 | oxidative phosphorylation | IEA | -- |
GO:0006281 | DNA repair | IDA | 8942985 |
GO:0006298 | mismatch repair | TAS | -- |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
dog (Canis familiaris) |
Mammalia | MSH2 33 32 |
|
OneToOne | |
cow (Bos Taurus) |
Mammalia | MSH2 33 32 |
|
OneToOne | |
mouse (Mus musculus) |
Mammalia | Msh2 17 33 32 |
|
||
rat (Rattus norvegicus) |
Mammalia | Msh2 32 |
|
||
oppossum (Monodelphis domestica) |
Mammalia | -- 33 |
|
OneToMany | |
-- 33 |
|
OneToMany | |||
-- 33 |
|
OneToMany | |||
platypus (Ornithorhynchus anatinus) |
Mammalia | MSH2 33 |
|
OneToOne | |
chicken (Gallus gallus) |
Aves | MSH2 33 32 |
|
OneToOne | |
lizard (Anolis carolinensis) |
Reptilia | MSH2 33 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | msh2 32 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | msh2 33 32 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP010282 32 |
|
||
fruit fly (Drosophila melanogaster) |
Insecta | spel1 33 34 32 |
|
OneToOne | |
worm (Caenorhabditis elegans) |
Secernentea | msh-2 33 34 |
|
OneToOne | |
baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | MSH2 35 33 32 |
|
||
A. gosspyii yeast (Ashbya gossypii) |
Saccharomycetes | AGOS_AFR603C 32 |
|
||
K. lactis yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0F02706g 32 |
|
||
thale cress (Arabidopsis thaliana) |
eudicotyledons | MSH2 32 |
|
||
barley (Hordeum vulgare) |
Liliopsida | Hv.2199 32 |
|
||
corn (Zea mays) |
Liliopsida | Zm.215 32 |
|
||
fission yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | msh2 32 |
|
||
bread mold (Neurospora crassa) |
Ascomycetes | NCU02230 32 |
|
||
sea squirt (Ciona savignyi) |
Ascidiacea | CSA.5956 33 |
|
OneToOne |
SNP ID | Clin | Chr 02 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1010360604 | likely-benign, Hereditary nonpolyposis colon cancer, Hereditary cancer-predisposing syndrome, not specified, Lynch syndrome I | 47,445,615(+) | C/G/T | coding_sequence_variant, non_coding_transcript_variant, synonymous_variant | |
rs10183143 | benign, Lynch syndrome, not specified | 47,466,898(+) | T/C | intron_variant | |
rs1021303606 | uncertain-significance, Hereditary nonpolyposis colon cancer | 47,414,387(+) | T/C | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
rs1024743168 | uncertain-significance, Hereditary nonpolyposis colon cancer | 47,414,312(+) | T/A/C | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
rs1028144634 | uncertain-significance, Hereditary cancer-predisposing syndrome | 47,416,324(+) | A/C | coding_sequence_variant, missense_variant, non_coding_transcript_variant |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv1070809 | CNV | deletion | 17803354 |
esv2291090 | CNV | deletion | 18987734 |
esv2720024 | CNV | deletion | 23290073 |
esv2720025 | CNV | deletion | 23290073 |
esv3890 | CNV | loss | 18987735 |
esv995811 | CNV | deletion | 20482838 |
nsv1004828 | CNV | gain | 25217958 |
nsv1130750 | CNV | deletion | 24896259 |
nsv527823 | CNV | gain | 19592680 |
nsv955113 | CNV | deletion | 24416366 |
nsv999576 | CNV | gain | 25217958 |
Disorder | Aliases | PubMed IDs |
---|---|---|
muir-torre syndrome |
|
|
lynch syndrome i |
|
|
mismatch repair cancer syndrome |
|
|
lynch syndrome |
|
|
ascending colon cancer |
|
|