Entity Details

Primary name PMS2_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP54278
EntryNamePMS2_HUMAN
FullNameMismatch repair endonuclease PMS2
TaxID9606
Evidenceevidence at protein level
Length862
SequenceStatuscomplete
DateCreated1996-10-01
DateModified2021-06-02

Ontological Relatives

GenesPMS2

GO terms

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GOName
GO:0003677 DNA binding
GO:0004519 endonuclease activity
GO:0005524 ATP binding
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0006298 mismatch repair
GO:0016446 somatic hypermutation of immunoglobulin genes
GO:0016887 ATP hydrolysis activity
GO:0032138 single base insertion or deletion binding
GO:0032300 mismatch repair complex
GO:0032389 MutLalpha complex
GO:0036464 cytoplasmic ribonucleoprotein granule
GO:0042493 response to drug

Subcellular Location

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Subcellular Location
Nucleus

Domains

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DomainNameCategoryType
IPR002099 DNA mismatch repair protein family, N-terminalDomainDomain
IPR013507 DNA mismatch repair protein, S5 domain 2-likeDomainDomain
IPR014721 Ribosomal protein S5 domain 2-type fold, subgroupFamilyHomologous superfamily
IPR014762 DNA mismatch repair, conserved siteSiteConserved site
IPR014790 MutL, C-terminal, dimerisationDomainDomain
IPR020568 Ribosomal protein S5 domain 2-type foldFamilyHomologous superfamily
IPR036890 Histidine kinase/HSP90-like ATPase superfamilyFamilyHomologous superfamily
IPR037198 MutL, C-terminal domain superfamilyFamilyHomologous superfamily
IPR038973 DNA mismatch repair protein MutL/Mlh/PmsFamilyFamily
IPR042120 MutL, C-terminal domain, dimerisation subdomainFamilyHomologous superfamily
IPR042121 MutL, C-terminal domain, regulatory subdomainFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
276300 OMIMMismatch repair cancer syndrome (MMRCS)An autosomal recessive, rare, childhood cancer predisposition syndrome encompassing a broad tumor spectrum. This includes hematological malignancies, central nervous system tumors, Lynch syndrome-associated malignancies such as colorectal tumors as well as multiple intestinal polyps, embryonic tumors and rhabdomyosarcoma. Multiple cafe-au-lait macules, a feature reminiscent of neurofibromatosis type 1, are often found as first manifestation of the underlying cancer. Areas of skin hypopigmentation have also been reported in MMRCS patients. The disease is caused by variants affecting the gene represented in this entry.
614337 OMIMHereditary non-polyposis colorectal cancer 4 (HNPCC4)An autosomal dominant disease associated with marked increase in cancer susceptibility. It is characterized by a familial predisposition to early-onset colorectal carcinoma (CRC) and extra-colonic tumors of the gastrointestinal, urological and female reproductive tracts. HNPCC is reported to be the most common form of inherited colorectal cancer in the Western world. Clinically, HNPCC is often divided into two subgroups. Type I is characterized by hereditary predisposition to colorectal cancer, a young age of onset, and carcinoma observed in the proximal colon. Type II is characterized by increased risk for cancers in certain tissues such as the uterus, ovary, breast, stomach, small intestine, skin, and larynx in addition to the colon. Diagnosis of classical HNPCC is based on the Amsterdam criteria: 3 or more relatives affected by colorectal cancer, one a first degree relative of the other two; 2 or more generation affected; 1 or more colorectal cancers presenting before 50 years of age; exclusion of hereditary polyposis syndromes. The term 'suspected HNPCC' or 'incomplete HNPCC' can be used to describe families who do not or only partially fulfill the Amsterdam criteria, but in whom a genetic basis for colon cancer is strongly suspected. The disease is caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB02930 Adenosine 5'-[gamma-thio]triphosphateDrugbanksmall molecule

Interactions

55 interactions

InteractorPartnerSourcesPublicationsLink
PMS2_HUMANMLH1_HUMANBioGRID, DIP, HPRD, IntAct, MINT10037723 10748159 11292842 11429708 11793469 12584560 12799449 12810663 14676842 15225546 16083711 17148452 17581638 18206974 18768816 19015241 20533529 20706999 20978114 22252508 22939629 25077178 25502805 26496610 30770470 31515488 details
PMS2_HUMANAKT1_HUMANBioGRID, MINT24412244 details
PMS2_HUMANAN32B_HUMANBioGRID, MINT24412244 details
PMS2_HUMANTRMO_HUMANBioGRID, MINT24412244 details
PMS2_HUMANFANCC_HUMANBioGRID, MINT24412244 details
PMS2_HUMANGLT12_HUMANBioGRID, MINT24412244 details
PMS2_HUMANCC180_HUMANBioGRID, MINT24412244 details
PMS2_HUMANPP2AB_HUMANBioGRID, MINT24412244 details
PMS2_HUMANRASA1_HUMANBioGRID, MINT24412244 details
PMS2_HUMANSFRP4_HUMANBioGRID, MINT24412244 details
PMS2_HUMANXPA_HUMANBioGRID, MINT24412244 details
PMS2_HUMANZN189_HUMANBioGRID, MINT24412244 details
PMS2_HUMANUBC_HUMANBioGRID17148452 28190767 details
PMS2_HUMANPCNA_HUMANBioGRID15225546 17148452 28439008 details
PMS2_HUMANMEOX2_HUMANBioGRID32296183 details
PMS2_HUMANFANCJ_HUMANBioGRID, IntAct, MINT17148452 17581638 20978114 22968820 26496610 details
PMS2_HUMANFAN1_HUMANBioGRID, IntAct17148452 20603015 20603073 25659891 26496610 27880917 details
PMS2_HUMANP73_HUMANDIP18768816 details
PMS2_HUMANEXO1_HUMANBioGRID, HPRD11427529 11429708 14676842 17148452 details
PMS2_HUMANMSH3_HUMANBioGRID17148452 details
PMS2_HUMANBRCA2_HUMANBioGRID17148452 details
PMS2_HUMANPSD2_HUMANBioGRID17148452 details
PMS2_HUMANPRKDC_HUMANBioGRID17148452 details
PMS2_HUMANIMA1_HUMANBioGRID17148452 details
PMS2_HUMANIMB1_HUMANBioGRID17148452 details
PMS2_HUMANRUVB1_HUMANBioGRID17148452 details
PMS2_HUMANRUVB2_HUMANBioGRID17148452 details
PMS2_HUMANPP2AA_HUMANBioGRID17148452 details
PMS2_HUMANAIFM1_HUMANBioGRID17148452 details
PMS2_HUMANP3C2A_HUMANBioGRID17148452 details
PMS2_HUMANATD3A_HUMANBioGRID17148452 details
PMS2_HUMANMSH2_HUMANBioGRID10748159 12799449 17148452 details
PMS2_HUMANMSH6_HUMANBioGRID10748159 12799449 17148452 details
PMS2_HUMANRFC2_HUMANBioGRID17148452 details
PMS2_HUMANDDB1_HUMANBioGRID17148452 details
PMS2_HUMANMCM3_HUMANBioGRID17148452 details
PMS2_HUMANSMCA4_HUMANBioGRID17148452 details
PMS2_HUMANXPO1_HUMANBioGRID17148452 details
PMS2_HUMANCOPB_HUMANBioGRID17148452 details
PMS2_HUMANCOPG1_HUMANBioGRID17148452 details
PMS2_HUMANCOPG2_HUMANBioGRID17148452 details
PMS2_HUMANPRS4_HUMANBioGRID17148452 details
PMS2_HUMANPRS10_HUMANBioGRID17148452 details
PMS2_HUMANPSMD5_HUMANBioGRID17148452 details
PMS2_HUMANPSD3_HUMANBioGRID17148452 details
PMS2_HUMANPRS6A_HUMANBioGRID17148452 details
PMS2_HUMANPRS7_HUMANBioGRID17148452 details
PMS2_HUMANCYLD_HUMANBioGRID17148452 details
PMS2_HUMANUBR5_HUMANBioGRID17148452 details
PMS2_HUMANNSUN2_HUMANBioGRID17148452 details
PMS2_HUMANMMS19_HUMANBioGRID17148452 details
PMS2_HUMANTOPB1_HUMANBioGRID20029092 details
PMS2_HUMANCLSPN_HUMANBioGRID20029092 details
PMS2_HUMANSPRTN_HUMANBioGRID23042605 details
PMS2_HUMANTRI29_HUMANBioGRID26095369 details