Seroatlas · Human Serome Atlas

MSH2

DNA mismatch repair protein Msh2

Also known as: COCA1, HNPCC, HNPCC1, MSH-2, MSH2_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
P43246
Gene
MSH2
Ensembl
ENSG00000095002
Chromosome
2
Canonical length
934 aa
Protein class
Cancer-related genes, Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
Subcellular location
Nucleoplasm

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

934 residues, UniProt reviewed canonical sequence.

>P43246|MSH2
     1  MAVQPKETLQ LESAAEVGFV RFFQGMPEKP TTTVRLFDRG DFYTAHGEDA LLAAREVFKT
    61  QGVIKYMGPA GAKNLQSVVL SKMNFESFVK DLLLVRQYRV EVYKNRAGNK ASKENDWYLA
   121  YKASPGNLSQ FEDILFGNND MSASIGVVGV KMSAVDGQRQ VGVGYVDSIQ RKLGLCEFPD
   181  NDQFSNLEAL LIQIGPKECV LPGGETAGDM GKLRQIIQRG GILITERKKA DFSTKDIYQD
   241  LNRLLKGKKG EQMNSAVLPE MENQVAVSSL SAVIKFLELL SDDSNFGQFE LTTFDFSQYM
   301  KLDIAAVRAL NLFQGSVEDT TGSQSLAALL NKCKTPQGQR LVNQWIKQPL MDKNRIEERL
   361  NLVEAFVEDA ELRQTLQEDL LRRFPDLNRL AKKFQRQAAN LQDCYRLYQG INQLPNVIQA
   421  LEKHEGKHQK LLLAVFVTPL TDLRSDFSKF QEMIETTLDM DQVENHEFLV KPSFDPNLSE
   481  LREIMNDLEK KMQSTLISAA RDLGLDPGKQ IKLDSSAQFG YYFRVTCKEE KVLRNNKNFS
   541  TVDIQKNGVK FTNSKLTSLN EEYTKNKTEY EEAQDAIVKE IVNISSGYVE PMQTLNDVLA
   601  QLDAVVSFAH VSNGAPVPYV RPAILEKGQG RIILKASRHA CVEVQDEIAF IPNDVYFEKD
   661  KQMFHIITGP NMGGKSTYIR QTGVIVLMAQ IGCFVPCESA EVSIVDCILA RVGAGDSQLK
   721  GVSTFMAEML ETASILRSAT KDSLIIIDEL GRGTSTYDGF GLAWAISEYI ATKIGAFCMF
   781  ATHFHELTAL ANQIPTVNNL HVTALTTEET LTMLYQVKKG VCDQSFGIHV AELANFPKHV
   841  IECAKQKALE LEEFQYIGES QGYDIMEPAA KKCYLEREQG EKIIQEFLSK VKQMPFTEMS
   901  EENITIKLKQ LKAEVIAKNN SFVNEIISRI KVTT

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MSH2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.27
Highest tissue expression
32 nTPM

Expression across tissuesHPA

Tissue

  • retina: 32 nTPM
  • thymus: 30 nTPM
  • tonsil: 23 nTPM
  • lymph node: 22 nTPM
  • testis: 15 nTPM
  • bone marrow: 15 nTPM

Single-cell type

  • cone photoreceptor cells: 294 nCPM
  • rod photoreceptor cells: 159 nCPM
  • erythrocyte progenitors: 146 nCPM
  • early primary spermatocytes: 118 nCPM
  • brain inhibitory neurons: 114 nCPM
  • distal convoluted tubule cells: 109 nCPM

Immune cell

  • NK-cell: 14 nTPM
  • naive CD8 T-cell: 13 nTPM
  • naive CD4 T-cell: 13 nTPM
  • T-reg: 12 nTPM
  • memory CD8 T-cell: 10 nTPM
  • MAIT T-cell: 9.4 nTPM

Brain region

  • cerebellum: 28 nTPM
  • choroid plexus: 24 nTPM
  • basal ganglia: 20 nTPM
  • cerebral cortex: 20 nTPM
  • pons: 18 nTPM
  • white matter: 17 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MSH2.

Disease | AllUniProt

Conditions MSH2 is implicated in, by any mechanism.

Disease | GeneticClinVar

2,180 pathogenic / likely-pathogenic of 8,174 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.33
gnomAD pLI
0.9
gnomAD missense Z
-2.45
DepMap mean gene effect
-0.24
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of MSH2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads MSH2 as an antibody target. Whether an autoantibody or antibody against MSH2 could matter depends on whether native MSH2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

MSH2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label MSH2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/MSH2. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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