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MSH2 mutS homolog 2 [ Homo sapiens (human) ]

Gene ID: 4436, updated on 12-Apr-2014
Official Symbol
MSH2provided by HGNC
Official Full Name
mutS homolog 2provided by HGNC
Primary source
HGNC:7325
See related
Ensembl:ENSG00000095002; HPRD:00389; MIM:609309; Vega:OTTHUMG00000128861
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
FCC1; COCA1; HNPCC; LCFS2; HNPCC1
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]
Location :
2p21
Sequence :
Chromosome: 2; NC_000002.12 (47403067..47512577)
See MSH2 in Epigenomics, MapViewer

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101927043 Neighboring gene brain cytoplasmic RNA 1 Neighboring gene epithelial cell adhesion molecule Neighboring gene microRNA 559 Neighboring gene potassium channel, subfamily K, member 12 Neighboring gene ribosomal protein L18a pseudogene 6

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Professional guidelines

Description
Professional guideline
ACMG 2013

The ACMG recommends that laboratories performing clinical sequencing seek and report mutations in MSH2 that are pathogenic or expected to be pathogenic.

GuidelinePubMed

Associated conditions

Description Tests
Lynch syndrome I
MedGen: C2936783 OMIM: 120435 GeneReviews: Lynch Syndrome
Compare labs
Muir-Torr syndrome
OMIM: 158320GeneReviews: Not available
Muir-Torr syndrome
MedGen: C1321489 GeneReviews: Lynch Syndrome
Compare labs
Turcot syndrome
MedGen: C0265325 OMIM: 276300 GeneReviews: Lynch Syndrome
Compare labs

Protein interactions

Protein Gene Interaction Pubs
pol gag-pol HIV-1 PR is identified to have a physical interaction with mutS homolog 2, colon cancer, nonpolyposis type 1 (MSH2) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

Go to the HIV-1, Human Protein Interaction Database

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to ADP binding IDA
Inferred from Direct Assay
more info
PubMed 
contributes_to ATP binding IDA
Inferred from Direct Assay
more info
PubMed 
contributes_to ATPase activity IDA
Inferred from Direct Assay
more info
PubMed 
DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
DNA-dependent ATPase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
contributes_to MutLalpha complex binding IDA
Inferred from Direct Assay
more info
PubMed 
Y-form DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
 
centromeric DNA binding IEA
Inferred from Electronic Annotation
more info
 
contributes_to dinucleotide insertion or deletion binding IDA
Inferred from Direct Assay
more info
PubMed 
contributes_to dinucleotide repeat insertion binding IDA
Inferred from Direct Assay
more info
PubMed 
double-strand/single-strand DNA junction binding IBA
Inferred from Biological aspect of Ancestor
more info
 
contributes_to double-stranded DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
enzyme binding IPI
Inferred from Physical Interaction
more info
PubMed 
contributes_to four-way junction DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
contributes_to guanine/thymine mispair binding IDA
Inferred from Direct Assay
more info
PubMed 
guanine/thymine mispair binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
loop DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
 
contributes_to magnesium ion binding IDA
Inferred from Direct Assay
more info
PubMed 
contributes_to mismatched DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
contributes_to oxidized purine DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
protein C-terminus binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
contributes_to protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
protein kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
contributes_to single guanine insertion binding IDA
Inferred from Direct Assay
more info
PubMed 
contributes_to single thymine insertion binding IDA
Inferred from Direct Assay
more info
PubMed 
contributes_to single-stranded DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
ATP catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
 
ATP catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
B cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
B cell mediated immunity ISS
Inferred from Sequence or Structural Similarity
more info
 
DNA repair IDA
Inferred from Direct Assay
more info
PubMed 
cell cycle arrest IEA
Inferred from Electronic Annotation
more info
 
determination of adult lifespan IEA
Inferred from Electronic Annotation
more info
 
double-strand break repair IBA
Inferred from Biological aspect of Ancestor
more info
 
germ cell development IEA
Inferred from Electronic Annotation
more info
 
in utero embryonic development IEA
Inferred from Electronic Annotation
more info
 
intra-S DNA damage checkpoint IBA
Inferred from Biological aspect of Ancestor
more info
 
intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator IBA
Inferred from Biological aspect of Ancestor
more info
 
isotype switching IBA
Inferred from Biological aspect of Ancestor
more info
 
isotype switching ISS
Inferred from Sequence or Structural Similarity
more info
 
maintenance of DNA repeat elements IMP
Inferred from Mutant Phenotype
more info
PubMed 
male gonad development ISS
Inferred from Sequence or Structural Similarity
more info
 
meiotic gene conversion IBA
Inferred from Biological aspect of Ancestor
more info
 
meiotic mismatch repair IBA
Inferred from Biological aspect of Ancestor
more info
 
mismatch repair IDA
Inferred from Direct Assay
more info
PubMed 
mismatch repair IGI
Inferred from Genetic Interaction
more info
 
negative regulation of DNA recombination IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of DNA recombination ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of neuron apoptotic process ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of reciprocal meiotic recombination IBA
Inferred from Biological aspect of Ancestor
more info
 
oxidative phosphorylation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of helicase activity IDA
Inferred from Direct Assay
more info
PubMed 
postreplication repair IDA
Inferred from Direct Assay
more info
PubMed 
response to UV-B IBA
Inferred from Biological aspect of Ancestor
more info
 
response to UV-B ISS
Inferred from Sequence or Structural Similarity
more info
 
response to X-ray IBA
Inferred from Biological aspect of Ancestor
more info
 
response to X-ray ISS
Inferred from Sequence or Structural Similarity
more info
 
somatic hypermutation of immunoglobulin genes IBA
Inferred from Biological aspect of Ancestor
more info
 
somatic recombination of immunoglobulin gene segments ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
MutSalpha complex IDA
Inferred from Direct Assay
more info
 
MutSbeta complex IDA
Inferred from Direct Assay
more info
PubMed 
nuclear chromosome IBA
Inferred from Biological aspect of Ancestor
more info
 
Preferred Names
DNA mismatch repair protein Msh2
Names
DNA mismatch repair protein Msh2
hMSH2
mutS homolog 2, colon cancer, nonpolyposis type 1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_007110.2 RefSeqGene

    Range
    4944..85105
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_218

mRNA and Protein(s)

  1. NM_000251.2NP_000242.1  DNA mismatch repair protein Msh2 isoform 1

    See proteins identical to NP_000242.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AK304496, CB250419, DC342099, U04045
    Consensus CDS
    CCDS1834.1
    UniProtKB/Swiss-Prot
    P43246
    Related
    ENSP00000233146, OTTHUMP00000159084, ENST00000233146, OTTHUMT00000250805
    Conserved Domains (5) summary
    cd03285
    Location:633852
    Blast Score: 1147
    ABC_MSH2_euk; ATP-binding cassette domain of eukaryotic MutS2 homolog
    COG0249
    Location:23853
    Blast Score: 1454
    MutS; Mismatch repair ATPase (MutS family) [DNA replication, recombination, and repair]
    pfam01624
    Location:18132
    Blast Score: 289
    MutS_I; MutS domain I
    pfam05188
    Location:158284
    Blast Score: 218
    MutS_II; MutS domain II
    pfam05192
    Location:305610
    Blast Score: 463
    MutS_III; MutS domain III
  2. NM_001258281.1NP_001245210.1  DNA mismatch repair protein Msh2 isoform 2

    See proteins identical to NP_001245210.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate segment of the first exon, including the translation start site, compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
    Source sequence(s)
    AK304496, CB250419, DC342099
    Consensus CDS
    CCDS58709.1
    UniProtKB/Swiss-Prot
    P43246
    Related
    ENSP00000442697, ENST00000543555
    Conserved Domains (5) summary
    cd03285
    Location:567786
    Blast Score: 1147
    ABC_MSH2_euk; ATP-binding cassette domain of eukaryotic MutS2 homolog
    smart00533
    Location:257579
    Blast Score: 795
    MUTSd; DNA-binding domain of DNA mismatch repair MUTS family
    pfam01624
    Location:566
    Blast Score: 128
    MutS_I; MutS domain I
    pfam05188
    Location:92218
    Blast Score: 217
    MutS_II; MutS domain II
    pfam05192
    Location:239544
    Blast Score: 461
    MutS_III; MutS domain III

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000002.12

    Range
    47403067..47512577
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005264332.1XP_005264389.1  

    UniProtKB/TrEMBL
    E9PHA6
    Related
    ENSP00000384199, OTTHUMP00000200306, ENST00000406134, OTTHUMT00000323353
    Conserved Domains (5) summary
    cd03285
    Location:633852
    Blast Score: 1151
    ABC_MSH2_euk; ATP-binding cassette domain of eukaryotic MutS2 homolog
    COG0249
    Location:23853
    Blast Score: 1467
    MutS; Mismatch repair ATPase (MutS family) [DNA replication, recombination, and repair]
    pfam01624
    Location:18132
    Blast Score: 291
    MutS_I; MutS domain I
    pfam05188
    Location:158284
    Blast Score: 219
    MutS_II; MutS domain II
    pfam05192
    Location:305610
    Blast Score: 463
    MutS_III; MutS domain III

Alternate HuRef

Genomic

  1. AC_000134.1 Alternate HuRef

    Range
    47367170..47445840
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018913.2 Alternate CHM1_1.1

    Range
    47560266..47640762
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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