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MSH2

GENERAL INFORMATION

Gene name

 MSH2

Gene description

 MutS homolog 2

Protein class

 Cancer-related genes
Disease related genes
Plasma proteins
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 9
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HUMAN PROTEIN ATLAS INFORMATION

RNA category
TCGA (cancer tissue):Expressed in all
HPA (cell line):Expressed in all
HPA (normal tissue):Expressed in all

Protein evidence

 Evidence at protein level

Protein expression
normal tissue

 Ubiquitous nuclear expression.

ANTIBODY IHC RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data.

Reliability score

 Supported based on 2 antibodies.
CAB009572 , CAB070867
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PROGNOSTIC SUMMARY
Prognostic marker in liver cancer (unfavourable), endometrial cancer (unfavourable) and pancreatic cancer (unfavourable).
Liver cancer p<0.001
Endometrial cancer p<0.001
Pancreatic cancer p<0.001
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RNA EXPRESSION OVERVIEW
TCGA dataset
RNA cancer category: Expressed in all

PROTEIN EXPRESSION
Colorectal cancer
Breast cancer
Prostate cancer
Lung cancer
Glioma

STAINING SUMMARY
CAB009572
CAB070867

GENE INFORMATION

Gene name

 MSH2 (HGNC Symbol)

Synonyms

 COCA1, HNPCC, HNPCC1

Description

 MutS homolog 2 (HGNC Symbol)

Entrez gene summary

 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]

Chromosome

 2

Cytoband

Chromosome location (bp)

 47402969 - 47562311

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000095002 (version 83.38)

Entrez gene

 4436

UniProt

 P43246 (UniProt - Evidence at protein level)

neXtProt

 NX_P43246

Antibodypedia

 MSH2 antibodies

PROTEIN BROWSER
MSH2-001
MSH2-002
MSH2-003
MSH2-201
MSH2-202
MSH2-203
MSH2-204
MSH2-205
MSH2-206

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
MSH2-001
ENSP00000233146
ENST00000233146
P43246 [Direct mapping]
DNA mismatch repair protein Msh2
Show all
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Plasma proteins
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000228 [nuclear chromosome]
GO:0000287 [magnesium ion binding]
GO:0000400 [four-way junction DNA binding]
GO:0000403 [Y-form DNA binding]
GO:0000404 [heteroduplex DNA loop binding]
GO:0000406 [double-strand/single-strand DNA junction binding]
GO:0000710 [meiotic mismatch repair]
GO:0000784 [nuclear chromosome, telomeric region]
GO:0001701 [in utero embryonic development]
GO:0002204 [somatic recombination of immunoglobulin genes involved in immune response]
GO:0003677 [DNA binding]
GO:0003684 [damaged DNA binding]
GO:0003690 [double-stranded DNA binding]
GO:0003697 [single-stranded DNA binding]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0006119 [oxidative phosphorylation]
GO:0006281 [DNA repair]
GO:0006298 [mismatch repair]
GO:0006301 [postreplication repair]
GO:0006302 [double-strand break repair]
GO:0006311 [meiotic gene conversion]
GO:0006974 [cellular response to DNA damage stimulus]
GO:0007050 [cell cycle arrest]
GO:0007131 [reciprocal meiotic recombination]
GO:0007281 [germ cell development]
GO:0008022 [protein C-terminus binding]
GO:0008094 [DNA-dependent ATPase activity]
GO:0008340 [determination of adult lifespan]
GO:0008584 [male gonad development]
GO:0008630 [intrinsic apoptotic signaling pathway in response to DNA damage]
GO:0010165 [response to X-ray]
GO:0010224 [response to UV-B]
GO:0016020 [membrane]
GO:0016446 [somatic hypermutation of immunoglobulin genes]
GO:0016447 [somatic recombination of immunoglobulin gene segments]
GO:0016887 [ATPase activity]
GO:0019237 [centromeric DNA binding]
GO:0019724 [B cell mediated immunity]
GO:0019899 [enzyme binding]
GO:0019901 [protein kinase binding]
GO:0030183 [B cell differentiation]
GO:0030983 [mismatched DNA binding]
GO:0031573 [intra-S DNA damage checkpoint]
GO:0032137 [guanine/thymine mispair binding]
GO:0032139 [dinucleotide insertion or deletion binding]
GO:0032142 [single guanine insertion binding]
GO:0032143 [single thymine insertion binding]
GO:0032181 [dinucleotide repeat insertion binding]
GO:0032301 [MutSalpha complex]
GO:0032302 [MutSbeta complex]
GO:0032357 [oxidized purine DNA binding]
GO:0032405 [MutLalpha complex binding]
GO:0042771 [intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator]
GO:0042803 [protein homodimerization activity]
GO:0043524 [negative regulation of neuron apoptotic process]
GO:0043531 [ADP binding]
GO:0043570 [maintenance of DNA repeat elements]
GO:0045128 [negative regulation of reciprocal meiotic recombination]
GO:0045190 [isotype switching]
GO:0045910 [negative regulation of DNA recombination]
GO:0051096 [positive regulation of helicase activity]
Show all
 934 aa
104.7 kDa 		No 0
MSH2-002
ENSP00000384199
ENST00000406134
E9PHA6 [Direct mapping]
DNA mismatch repair protein Msh2
Show all
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000228 [nuclear chromosome]
GO:0000403 [Y-form DNA binding]
GO:0000404 [heteroduplex DNA loop binding]
GO:0000406 [double-strand/single-strand DNA junction binding]
GO:0000710 [meiotic mismatch repair]
GO:0005524 [ATP binding]
GO:0006298 [mismatch repair]
GO:0006302 [double-strand break repair]
GO:0006311 [meiotic gene conversion]
GO:0007131 [reciprocal meiotic recombination]
GO:0008094 [DNA-dependent ATPase activity]
GO:0010165 [response to X-ray]
GO:0010224 [response to UV-B]
GO:0016446 [somatic hypermutation of immunoglobulin genes]
GO:0030983 [mismatched DNA binding]
GO:0031573 [intra-S DNA damage checkpoint]
GO:0042771 [intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator]
GO:0045128 [negative regulation of reciprocal meiotic recombination]
GO:0045190 [isotype switching]
Show all
 921 aa
103.2 kDa 		No 0
MSH2-003
ENSP00000411482
ENST00000454849
C9J809 [Direct mapping]
DNA mismatch repair protein Msh2
Show all
Predicted intracellular proteins
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000228 [nuclear chromosome]
GO:0000403 [Y-form DNA binding]
GO:0000404 [heteroduplex DNA loop binding]
GO:0000406 [double-strand/single-strand DNA junction binding]
GO:0000710 [meiotic mismatch repair]
GO:0005524 [ATP binding]
GO:0006298 [mismatch repair]
GO:0006302 [double-strand break repair]
GO:0006311 [meiotic gene conversion]
GO:0007131 [reciprocal meiotic recombination]
GO:0008094 [DNA-dependent ATPase activity]
GO:0010165 [response to X-ray]
GO:0010224 [response to UV-B]
GO:0016446 [somatic hypermutation of immunoglobulin genes]
GO:0030983 [mismatched DNA binding]
GO:0031573 [intra-S DNA damage checkpoint]
GO:0042771 [intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator]
GO:0045128 [negative regulation of reciprocal meiotic recombination]
GO:0045190 [isotype switching]
Show all
 140 aa
15.3 kDa 		No 0
MSH2-201
ENSP00000442697
ENST00000543555
P43246 [Direct mapping]
DNA mismatch repair protein Msh2
Show all
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Plasma proteins
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000228 [nuclear chromosome]
GO:0000287 [magnesium ion binding]
GO:0000400 [four-way junction DNA binding]
GO:0000403 [Y-form DNA binding]
GO:0000404 [heteroduplex DNA loop binding]
GO:0000406 [double-strand/single-strand DNA junction binding]
GO:0000710 [meiotic mismatch repair]
GO:0000784 [nuclear chromosome, telomeric region]
GO:0003677 [DNA binding]
GO:0003690 [double-stranded DNA binding]
GO:0003697 [single-stranded DNA binding]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005654 [nucleoplasm]
GO:0006281 [DNA repair]
GO:0006298 [mismatch repair]
GO:0006301 [postreplication repair]
GO:0006302 [double-strand break repair]
GO:0006311 [meiotic gene conversion]
GO:0007131 [reciprocal meiotic recombination]
GO:0008022 [protein C-terminus binding]
GO:0008094 [DNA-dependent ATPase activity]
GO:0008584 [male gonad development]
GO:0010165 [response to X-ray]
GO:0010224 [response to UV-B]
GO:0016020 [membrane]
GO:0016446 [somatic hypermutation of immunoglobulin genes]
GO:0016447 [somatic recombination of immunoglobulin gene segments]
GO:0016887 [ATPase activity]
GO:0019724 [B cell mediated immunity]
GO:0019899 [enzyme binding]
GO:0019901 [protein kinase binding]
GO:0030183 [B cell differentiation]
GO:0030983 [mismatched DNA binding]
GO:0031573 [intra-S DNA damage checkpoint]
GO:0032137 [guanine/thymine mispair binding]
GO:0032139 [dinucleotide insertion or deletion binding]
GO:0032142 [single guanine insertion binding]
GO:0032143 [single thymine insertion binding]
GO:0032181 [dinucleotide repeat insertion binding]
GO:0032301 [MutSalpha complex]
GO:0032302 [MutSbeta complex]
GO:0032357 [oxidized purine DNA binding]
GO:0032405 [MutLalpha complex binding]
GO:0042771 [intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator]
GO:0042803 [protein homodimerization activity]
GO:0043524 [negative regulation of neuron apoptotic process]
GO:0043531 [ADP binding]
GO:0043570 [maintenance of DNA repeat elements]
GO:0045128 [negative regulation of reciprocal meiotic recombination]
GO:0045190 [isotype switching]
GO:0045910 [negative regulation of DNA recombination]
GO:0051096 [positive regulation of helicase activity]
Show all
 868 aa
97.3 kDa 		No 0
MSH2-202
ENSP00000483159
ENST00000610696
A0A087X078 [Direct mapping]
DNA mismatch repair protein Msh2
Show all
Predicted intracellular proteins
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000228 [nuclear chromosome]
GO:0000403 [Y-form DNA binding]
GO:0000404 [heteroduplex DNA loop binding]
GO:0000406 [double-strand/single-strand DNA junction binding]
GO:0000710 [meiotic mismatch repair]
GO:0005524 [ATP binding]
GO:0006298 [mismatch repair]
GO:0006302 [double-strand break repair]
GO:0006311 [meiotic gene conversion]
GO:0007131 [reciprocal meiotic recombination]
GO:0008094 [DNA-dependent ATPase activity]
GO:0010165 [response to X-ray]
GO:0010224 [response to UV-B]
GO:0016446 [somatic hypermutation of immunoglobulin genes]
GO:0030983 [mismatched DNA binding]
GO:0031573 [intra-S DNA damage checkpoint]
GO:0042771 [intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator]
GO:0045128 [negative regulation of reciprocal meiotic recombination]
GO:0045190 [isotype switching]
Show all
 533 aa
60.1 kDa 		No 0
MSH2-203
ENSP00000484137
ENST00000613514
A0A087X1E7 [Direct mapping]
DNA mismatch repair protein Msh2
Show all
Predicted intracellular proteins
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000228 [nuclear chromosome]
GO:0000403 [Y-form DNA binding]
GO:0000404 [heteroduplex DNA loop binding]
GO:0000406 [double-strand/single-strand DNA junction binding]
GO:0000710 [meiotic mismatch repair]
GO:0005524 [ATP binding]
GO:0006298 [mismatch repair]
GO:0006302 [double-strand break repair]
GO:0006311 [meiotic gene conversion]
GO:0007131 [reciprocal meiotic recombination]
GO:0008094 [DNA-dependent ATPase activity]
GO:0010165 [response to X-ray]
GO:0010224 [response to UV-B]
GO:0016446 [somatic hypermutation of immunoglobulin genes]
GO:0030983 [mismatched DNA binding]
GO:0031573 [intra-S DNA damage checkpoint]
GO:0042771 [intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator]
GO:0045128 [negative regulation of reciprocal meiotic recombination]
GO:0045190 [isotype switching]
Show all
 485 aa
54.8 kDa 		No 0
MSH2-204
ENSP00000482468
ENST00000617333
V9H0B2 [Direct mapping]
DNA mismatch repair protein Msh2; MSH2 protein
Show all
Predicted intracellular proteins
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000228 [nuclear chromosome]
GO:0000403 [Y-form DNA binding]
GO:0000404 [heteroduplex DNA loop binding]
GO:0000406 [double-strand/single-strand DNA junction binding]
GO:0000710 [meiotic mismatch repair]
GO:0005524 [ATP binding]
GO:0006298 [mismatch repair]
GO:0006302 [double-strand break repair]
GO:0006311 [meiotic gene conversion]
GO:0007131 [reciprocal meiotic recombination]
GO:0008094 [DNA-dependent ATPase activity]
GO:0010165 [response to X-ray]
GO:0010224 [response to UV-B]
GO:0016446 [somatic hypermutation of immunoglobulin genes]
GO:0030983 [mismatched DNA binding]
GO:0031573 [intra-S DNA damage checkpoint]
GO:0042771 [intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator]
GO:0045128 [negative regulation of reciprocal meiotic recombination]
GO:0045190 [isotype switching]
Show all
 410 aa
46 kDa 		No 0
MSH2-205
ENSP00000481158
ENST00000617938
V9H015 [Direct mapping]
DNA mismatch repair protein Msh2; MSH2 protein
Show all
Predicted intracellular proteins
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000228 [nuclear chromosome]
GO:0000403 [Y-form DNA binding]
GO:0000404 [heteroduplex DNA loop binding]
GO:0000406 [double-strand/single-strand DNA junction binding]
GO:0000710 [meiotic mismatch repair]
GO:0005524 [ATP binding]
GO:0006298 [mismatch repair]
GO:0006302 [double-strand break repair]
GO:0006311 [meiotic gene conversion]
GO:0007131 [reciprocal meiotic recombination]
GO:0008094 [DNA-dependent ATPase activity]
GO:0010165 [response to X-ray]
GO:0010224 [response to UV-B]
GO:0016446 [somatic hypermutation of immunoglobulin genes]
GO:0030983 [mismatched DNA binding]
GO:0031573 [intra-S DNA damage checkpoint]
GO:0042771 [intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator]
GO:0045128 [negative regulation of reciprocal meiotic recombination]
GO:0045190 [isotype switching]
Show all
 341 aa
37.6 kDa 		No 0
MSH2-206
ENSP00000481416
ENST00000621359
V9H019 [Direct mapping]
DNA mismatch repair protein Msh2; MSH2 protein
Show all
   Phobius predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000228 [nuclear chromosome]
GO:0000403 [Y-form DNA binding]
GO:0000404 [heteroduplex DNA loop binding]
GO:0000406 [double-strand/single-strand DNA junction binding]
GO:0000710 [meiotic mismatch repair]
GO:0005524 [ATP binding]
GO:0006298 [mismatch repair]
GO:0006302 [double-strand break repair]
GO:0006311 [meiotic gene conversion]
GO:0007131 [reciprocal meiotic recombination]
GO:0008094 [DNA-dependent ATPase activity]
GO:0010165 [response to X-ray]
GO:0010224 [response to UV-B]
GO:0016446 [somatic hypermutation of immunoglobulin genes]
GO:0030983 [mismatched DNA binding]
GO:0031573 [intra-S DNA damage checkpoint]
GO:0042771 [intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator]
GO:0045128 [negative regulation of reciprocal meiotic recombination]
GO:0045190 [isotype switching]
Show all
 810 aa
90.9 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.