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UniProtKB - P54278 (PMS2_HUMAN)

Entry version 201 (08 May 2019)
Sequence version 2 (11 Jan 2011)
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Protein

Mismatch repair endonuclease PMS2

Gene

PMS2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Component of the post-replicative DNA mismatch repair system (MMR). Heterodimerizes with MLH1 to form MutL alpha. DNA repair is initiated by MutS alpha (MSH2-MSH6) or MutS beta (MSH2-MSH3) binding to a dsDNA mismatch, then MutL alpha is recruited to the heteroduplex. Assembly of the MutL-MutS-heteroduplex ternary complex in presence of RFC and PCNA is sufficient to activate endonuclease activity of PMS2. It introduces single-strand breaks near the mismatch and thus generates new entry points for the exonuclease EXO1 to degrade the strand containing the mismatch. DNA methylation would prevent cleavage and therefore assure that only the newly mutated DNA strand is going to be corrected. MutL alpha (MLH1-PMS2) interacts physically with the clamp loader subunits of DNA polymerase III, suggesting that it may play a role to recruit the DNA polymerase III to the site of the MMR. Also implicated in DNA damage signaling, a process which induces cell cycle arrest and can lead to apoptosis in case of major DNA damages.3 Publications

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionEndonuclease, Hydrolase, Nuclease
Biological processDNA damage, DNA repair

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-5358565 Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha)
R-HSA-5358606 Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta)
R-HSA-5545483 Defective Mismatch Repair Associated With MLH1
R-HSA-5632987 Defective Mismatch Repair Associated With PMS2
R-HSA-6796648 TP53 Regulates Transcription of DNA Repair Genes

SIGNOR Signaling Network Open Resource

More...SIGNORi		P54278

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Mismatch repair endonuclease PMS2Curated (EC:3.1.-.-)
Alternative name(s):
DNA mismatch repair protein PMS2
PMS1 protein homolog 2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:PMS2Imported
Synonyms:PMSL2Imported
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 7

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:9122 PMS2

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		600259 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P54278

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Hereditary non-polyposis colorectal cancer 4 (HNPCC4)10 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_06683846S → I in MMRCS and HNPCC4; strongly decreased DNA mismatch repair activity; no effect on protein abundance; no effect on subcellular localization. 5 PublicationsCorresponds to variant dbSNP:rs121434629EnsemblClinVar.1
Natural variantiVAR_07851846S → N in HNPCC4; strongly decreased DNA mismatch repair activity. 2 PublicationsCorresponds to variant dbSNP:rs121434629EnsemblClinVar.1
Natural variantiVAR_078523182A → T in HNPCC4; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs587779341EnsemblClinVar.1
Natural variantiVAR_078524205Q → P in MMRCS and HNPCC4; unknown pathological significance; normal DNA mismatch repair activity. 3 PublicationsCorresponds to variant dbSNP:rs587779342EnsemblClinVar.1
Natural variantiVAR_078525207G → E in HNPCC4; unknown pathological significance; normal DNA mismatch repair activity. 2 PublicationsCorresponds to variant dbSNP:rs374704824EnsemblClinVar.1
Natural variantiVAR_078526263L → V in MMRCS and HNPCC4; unknown pathological significance; normal DNA mismatch repair activity. 2 PublicationsCorresponds to variant dbSNP:rs587779345EnsemblClinVar.1
Natural variantiVAR_012969479H → Q in MMRCS and HNPCC4; unknown pathological significance; normal DNA mismatch repair activity. 3 PublicationsCorresponds to variant dbSNP:rs63750685EnsemblClinVar.1
Natural variantiVAR_078533585L → I in MMRCS and HNPCC4; unknown pathological significance; normal DNA mismatch repair activity. 3 PublicationsCorresponds to variant dbSNP:rs63750947EnsemblClinVar.1
Natural variantiVAR_012973622M → I in HNPCC4; unknown pathological significance; significantly reduced interaction with MLH1; normal DNA mismatch repair activity. 6 PublicationsCorresponds to variant dbSNP:rs1805324EnsemblClinVar.1
Natural variantiVAR_078534663E → A in HNPCC4; unknown pathological significance; normal DNA mismatch repair activity. 2 PublicationsCorresponds to variant dbSNP:rs587779332EnsemblClinVar.1
Natural variantiVAR_012974705E → K in MMRCS and HNPCC4; decreases DNA mismatch repair activity. 3 PublicationsCorresponds to variant dbSNP:rs267608161EnsemblClinVar.1
Natural variantiVAR_078535750G → D in HNPCC4; unknown pathological significance; decreased DNA mismatch repair activity. 2 PublicationsCorresponds to variant dbSNP:rs587779337EnsemblClinVar.1
Natural variantiVAR_078536797M → R in HNPCC4; unknown pathological significance; normal DNA mismatch repair activity. 2 PublicationsCorresponds to variant dbSNP:rs267608152EnsemblClinVar.1
Natural variantiVAR_078538843C → Y in HNPCC4; decreased DNA mismatch repair activity. 2 PublicationsCorresponds to variant dbSNP:rs267608174EnsemblClinVar.1
Mismatch repair cancer syndrome (MMRCS)5 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06683846S → I in MMRCS and HNPCC4; strongly decreased DNA mismatch repair activity; no effect on protein abundance; no effect on subcellular localization. 5 PublicationsCorresponds to variant dbSNP:rs121434629EnsemblClinVar.1
Natural variantiVAR_07852066I → T in MMRCS; unknown pathological significance; normal DNA mismatch repair activity. 1 PublicationCorresponds to variant dbSNP:rs769554577EnsemblClinVar.1
Natural variantiVAR_078521107R → W in MMRCS; decreased DNA mismatch repair activity. 1 PublicationCorresponds to variant dbSNP:rs188006077EnsemblClinVar.1
Natural variantiVAR_078522115C → G in MMRCS; decreased DNA mismatch repair activity. 1 Publication1
Natural variantiVAR_078524205Q → P in MMRCS and HNPCC4; unknown pathological significance; normal DNA mismatch repair activity. 3 PublicationsCorresponds to variant dbSNP:rs587779342EnsemblClinVar.1
Natural variantiVAR_078526263L → V in MMRCS and HNPCC4; unknown pathological significance; normal DNA mismatch repair activity. 2 PublicationsCorresponds to variant dbSNP:rs587779345EnsemblClinVar.1
Natural variantiVAR_078527307N → K in MMRCS; unknown pathological significance; decreased DNA mismatch repair activity. 1 PublicationCorresponds to variant dbSNP:rs587779346EnsemblClinVar.1
Natural variantiVAR_078528437P → S in MMRCS; unknown pathological significance; normal DNA mismatch repair activity. 1 PublicationCorresponds to variant dbSNP:rs200726484EnsemblClinVar.1
Natural variantiVAR_012969479H → Q in MMRCS and HNPCC4; unknown pathological significance; normal DNA mismatch repair activity. 3 PublicationsCorresponds to variant dbSNP:rs63750685EnsemblClinVar.1
Natural variantiVAR_078529488A → V in MMRCS; unknown pathological significance; normal DNA mismatch repair activity. 1 PublicationCorresponds to variant dbSNP:rs587779328EnsemblClinVar.1
Natural variantiVAR_078530504E → Q in MMRCS; unknown pathological significance; normal DNA mismatch repair activity. 1 PublicationCorresponds to variant dbSNP:rs368516768EnsemblClinVar.1
Natural variantiVAR_078533585L → I in MMRCS and HNPCC4; unknown pathological significance; normal DNA mismatch repair activity. 3 PublicationsCorresponds to variant dbSNP:rs63750947EnsemblClinVar.1
Natural variantiVAR_012974705E → K in MMRCS and HNPCC4; decreases DNA mismatch repair activity. 3 PublicationsCorresponds to variant dbSNP:rs267608161EnsemblClinVar.1
Natural variantiVAR_078537815S → L in MMRCS; decreased DNA mismatch repair activity. 1 PublicationCorresponds to variant dbSNP:rs587779338EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi41E → A: Decreased DNA mismatch repair activity. 1 Publication1
Mutagenesisi70D → N: No effect on protein abundance, no effect on subcellular localization and loss of DNA mismatch repair activity. 1 Publication1
Mutagenesisi519Y → C: No effect on DNA mismatch repair activity. 1 Publication1

Keywords - Diseasei

Disease mutation, Hereditary nonpolyposis colorectal cancer, Tumor suppressor

Organism-specific databases

DisGeNET

More...DisGeNETi		5395

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		PMS2

MalaCards human disease database

More...MalaCardsi		PMS2
MIMi276300 phenotype
614337 phenotype

Open Targets

More...OpenTargetsi		ENSG00000122512

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		252202 Constitutional mismatch repair deficiency syndrome
144 Lynch syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA33448

Chemistry databases

Drug and drug target database

More...DrugBanki		DB02930 Phosphothiophosphoric Acid-Adenylate Ester

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		PMS2

Domain mapping of disease mutations (DMDM)

More...DMDMi		317373266

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001780051 – 862Mismatch repair endonuclease PMS2Add BLAST862

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei573PhosphothreonineCombined sources1
Modified residuei597PhosphothreonineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		P54278

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		P54278

MaxQB - The MaxQuant DataBase

More...MaxQBi		P54278

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		P54278

PeptideAtlas

More...PeptideAtlasi		P54278

PRoteomics IDEntifications database

More...PRIDEi		P54278

ProteomicsDB human proteome resource

More...ProteomicsDBi		56669
56670 [P54278-2]
56671 [P54278-3]
56672 [P54278-4]

2D gel databases

Two-dimensional polyacrylamide gel electrophoresis database from the Geneva University Hospital

More...SWISS-2DPAGEi		P54278

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P54278

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		P54278

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000122512 Expressed in 93 organ(s), highest expression level in kidney

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P54278 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P54278 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		CAB010235
HPA044400
HPA066490
HPA070310

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Heterodimer of PMS2 and MLH1 (MutL alpha).

Forms a ternary complex with MutS alpha (MSH2-MSH6) or MutS beta (MSH2-MSH3). Part of the BRCA1-associated genome surveillance complex (BASC), which contains BRCA1, MSH2, MSH6, MLH1, ATM, BLM, PMS2 and the RAD50-MRE11-NBS1 protein complex. This association could be a dynamic process changing throughout the cell cycle and within subnuclear domains.

Interacts with MTMR15/FAN1.

1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		111404, 55 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		P54278

Database of interacting proteins

More...DIPi		DIP-46295N

Protein interaction database and analysis system

More...IntActi		P54278, 27 interactors

Molecular INTeraction database

More...MINTi		P54278

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000265849

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1862
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		P54278

Database of comparative protein structure models

More...ModBasei		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		P54278

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the DNA mismatch repair MutL/HexB family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG1978 Eukaryota
COG0323 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000155381

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000165474

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P54278

KEGG Orthology (KO)

More...KOi		K10858

Identification of Orthologs from Complete Genome Data

More...OMAi		FFFINQR

Database of Orthologous Groups

More...OrthoDBi		735423at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P54278

TreeFam database of animal gene trees

More...TreeFami		TF300711

Family and domain databases

Conserved Domains Database

More...CDDi		cd00075 HATPase_c, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		2.30.42.20, 1 hit
3.30.1370.100, 1 hit
3.30.230.10, 1 hit
3.30.565.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR014762 DNA_mismatch_repair_CS
IPR002099 DNA_mismatch_repair_N
IPR013507 DNA_mismatch_S5_2-like
IPR003594 HATPase_C
IPR036890 HATPase_C_sf
IPR038973 MutL/Mlh/Pms
IPR014790 MutL_C
IPR042120 MutL_C_dimsub
IPR042121 MutL_C_regsub
IPR037198 MutL_C_sf
IPR020568 Ribosomal_S5_D2-typ_fold
IPR014721 Ribosomal_S5_D2-typ_fold_subgr

The PANTHER Classification System

More...PANTHERi		PTHR10073 PTHR10073, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF01119 DNA_mis_repair, 1 hit
PF08676 MutL_C, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM01340 DNA_mis_repair, 1 hit
SM00853 MutL_C, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF118116 SSF118116, 1 hit
SSF54211 SSF54211, 1 hit
SSF55874 SSF55874, 1 hit

TIGRFAMs; a protein family database

More...TIGRFAMsi		TIGR00585 mutl, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS00058 DNA_MISMATCH_REPAIR_1, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (4+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 4 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P54278-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MERAESSSTE PAKAIKPIDR KSVHQICSGQ VVLSLSTAVK ELVENSLDAG 
        60         70         80         90        100
ATNIDLKLKD YGVDLIEVSD NGCGVEEENF EGLTLKHHTS KIQEFADLTQ 
       110        120        130        140        150
VETFGFRGEA LSSLCALSDV TISTCHASAK VGTRLMFDHN GKIIQKTPYP 
       160        170        180        190        200
RPRGTTVSVQ QLFSTLPVRH KEFQRNIKKE YAKMVQVLHA YCIISAGIRV 
       210        220        230        240        250
SCTNQLGQGK RQPVVCTGGS PSIKENIGSV FGQKQLQSLI PFVQLPPSDS 
       260        270        280        290        300
VCEEYGLSCS DALHNLFYIS GFISQCTHGV GRSSTDRQFF FINRRPCDPA 
       310        320        330        340        350
KVCRLVNEVY HMYNRHQYPF VVLNISVDSE CVDINVTPDK RQILLQEEKL 
       360        370        380        390        400
LLAVLKTSLI GMFDSDVNKL NVSQQPLLDV EGNLIKMHAA DLEKPMVEKQ 
       410        420        430        440        450
DQSPSLRTGE EKKDVSISRL REAFSLRHTT ENKPHSPKTP EPRRSPLGQK 
       460        470        480        490        500
RGMLSSSTSG AISDKGVLRP QKEAVSSSHG PSDPTDRAEV EKDSGHGSTS 
       510        520        530        540        550
VDSEGFSIPD TGSHCSSEYA ASSPGDRGSQ EHVDSQEKAP KTDDSFSDVD 
       560        570        580        590        600
CHSNQEDTGC KFRVLPQPTN LATPNTKRFK KEEILSSSDI CQKLVNTQDM 
       610        620        630        640        650
SASQVDVAVK INKKVVPLDF SMSSLAKRIK QLHHEAQQSE GEQNYRKFRA 
       660        670        680        690        700
KICPGENQAA EDELRKEISK TMFAEMEIIG QFNLGFIITK LNEDIFIVDQ 
       710        720        730        740        750
HATDEKYNFE MLQQHTVLQG QRLIAPQTLN LTAVNEAVLI ENLEIFRKNG 
       760        770        780        790        800
FDFVIDENAP VTERAKLISL PTSKNWTFGP QDVDELIFML SDSPGVMCRP 
       810        820        830        840        850
SRVKQMFASR ACRKSVMIGT ALNTSEMKKL ITHMGEMDHP WNCPHGRPTM 
       860 
RHIANLGVIS QN
Length:862
Mass (Da):95,797
Last modified:January 11, 2011 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iB1B9547280ECAF9A
GO
Isoform 2 (identifier: P54278-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     269-669: Missing.

Note: No experimental confirmation available.
Show »
Length:461
Mass (Da):51,251
Checksum:i26A7DCBA84C6FEA5
GO
Isoform 3 (identifier: P54278-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     560-572: CKFRVLPQPTNLA → LKTGPSDPRTSMN
     573-862: Missing.

Note: No experimental confirmation available.
Show »
Length:572
Mass (Da):62,751
Checksum:i508F176091F469A4
GO
Isoform 4 (identifier: P54278-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     180-183: EYAK → QASV
     184-862: Missing.

Note: No experimental confirmation available.
Show »
Length:183
Mass (Da):20,073
Checksum:iECC6B3983021FF07
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9J167C9J167_HUMAN
Mismatch repair endonuclease PMS2
PMS2
756Annotation score:

Annotation score:3 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8Y6S3A0A2R8Y6S3_HUMAN
Mismatch repair endonuclease PMS2
PMS2
727Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07851718I → V Polymorphism; normal DNA mismatch repair activity. 4 PublicationsCorresponds to variant dbSNP:rs63750123EnsemblClinVar.1
Natural variantiVAR_00446920R → Q Polymorphism; no effect on protein abundance; no effect on subcellular localization; normal DNA mismatch repair activity. 4 PublicationsCorresponds to variant dbSNP:rs10254120EnsemblClinVar.1
Natural variantiVAR_07981736S → R Polymorphism; no effect on protein levels. 1 PublicationCorresponds to variant dbSNP:rs587781918EnsemblClinVar.1
Natural variantiVAR_06683846S → I in MMRCS and HNPCC4; strongly decreased DNA mismatch repair activity; no effect on protein abundance; no effect on subcellular localization. 5 PublicationsCorresponds to variant dbSNP:rs121434629EnsemblClinVar.1
Natural variantiVAR_07851846S → N in HNPCC4; strongly decreased DNA mismatch repair activity. 2 PublicationsCorresponds to variant dbSNP:rs121434629EnsemblClinVar.1
Natural variantiVAR_07851960D → E Polymorphism; normal DNA mismatch repair activity. 2 PublicationsCorresponds to variant dbSNP:rs200313585EnsemblClinVar.1
Natural variantiVAR_07852066I → T in MMRCS; unknown pathological significance; normal DNA mismatch repair activity. 1 PublicationCorresponds to variant dbSNP:rs769554577EnsemblClinVar.1
Natural variantiVAR_078521107R → W in MMRCS; decreased DNA mismatch repair activity. 1 PublicationCorresponds to variant dbSNP:rs188006077EnsemblClinVar.1
Natural variantiVAR_078522115C → G in MMRCS; decreased DNA mismatch repair activity. 1 Publication1
Natural variantiVAR_078523182A → T in HNPCC4; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs587779341EnsemblClinVar.1
Natural variantiVAR_078524205Q → P in MMRCS and HNPCC4; unknown pathological significance; normal DNA mismatch repair activity. 3 PublicationsCorresponds to variant dbSNP:rs587779342EnsemblClinVar.1
Natural variantiVAR_078525207G → E in HNPCC4; unknown pathological significance; normal DNA mismatch repair activity. 2 PublicationsCorresponds to variant dbSNP:rs374704824EnsemblClinVar.1
Natural variantiVAR_078526263L → V in MMRCS and HNPCC4; unknown pathological significance; normal DNA mismatch repair activity. 2 PublicationsCorresponds to variant dbSNP:rs587779345EnsemblClinVar.1
Natural variantiVAR_016133277T → K. Corresponds to variant dbSNP:rs1805322EnsemblClinVar.1
Natural variantiVAR_078527307N → K in MMRCS; unknown pathological significance; decreased DNA mismatch repair activity. 1 PublicationCorresponds to variant dbSNP:rs587779346EnsemblClinVar.1
Natural variantiVAR_079012423A → T Polymorphism; normal DNA mismatch repair activity. 2 PublicationsCorresponds to variant dbSNP:rs587778619EnsemblClinVar.1
Natural variantiVAR_078528437P → S in MMRCS; unknown pathological significance; normal DNA mismatch repair activity. 1 PublicationCorresponds to variant dbSNP:rs200726484EnsemblClinVar.1
Natural variantiVAR_016134470P → S Polymorphism; no effect on protein abundance; no effect on subcellular localization; normal DNA mismatch repair activity. 5 PublicationsCorresponds to variant dbSNP:rs1805321EnsemblClinVar.1
Natural variantiVAR_079818475V → E Polymorphism; no effect on protein levels. 1 PublicationCorresponds to variant dbSNP:rs587781827EnsemblClinVar.1
Natural variantiVAR_012969479H → Q in MMRCS and HNPCC4; unknown pathological significance; normal DNA mismatch repair activity. 3 PublicationsCorresponds to variant dbSNP:rs63750685EnsemblClinVar.1
Natural variantiVAR_012970485T → K Polymorphism; normal DNA mismatch repair activity. 3 PublicationsCorresponds to variant dbSNP:rs1805323EnsemblClinVar.1
Natural variantiVAR_078529488A → V in MMRCS; unknown pathological significance; normal DNA mismatch repair activity. 1 PublicationCorresponds to variant dbSNP:rs587779328EnsemblClinVar.1
Natural variantiVAR_078530504E → Q in MMRCS; unknown pathological significance; normal DNA mismatch repair activity. 1 PublicationCorresponds to variant dbSNP:rs368516768EnsemblClinVar.1
Natural variantiVAR_012971511T → A Polymorphism; normal DNA mismatch repair activity. 2 PublicationsCorresponds to variant dbSNP:rs2228007EnsemblClinVar.1
Natural variantiVAR_079013511T → M Polymorphism; normal DNA mismatch repair activity. 2 PublicationsCorresponds to variant dbSNP:rs74902811EnsemblClinVar.1
Natural variantiVAR_079014511T → P1 PublicationCorresponds to variant dbSNP:rs2228007EnsemblClinVar.1
Natural variantiVAR_024541541K → E Polymorphism; normal DNA mismatch repair activity. 7 PublicationsCorresponds to variant dbSNP:rs2228006EnsemblClinVar.1
Natural variantiVAR_078531563R → L Polymorphism; normal DNA mismatch repair activity. 4 PublicationsCorresponds to variant dbSNP:rs63750668EnsemblClinVar.1
Natural variantiVAR_078532571L → I Polymorphism; normal DNA mismatch repair activity. 2 PublicationsCorresponds to variant dbSNP:rs63750055EnsemblClinVar.1
Natural variantiVAR_078533585L → I in MMRCS and HNPCC4; unknown pathological significance; normal DNA mismatch repair activity. 3 PublicationsCorresponds to variant dbSNP:rs63750947EnsemblClinVar.1
Natural variantiVAR_012972597T → S Polymorphism; normal DNA mismatch repair activity; significantly reduced interaction with MLH1. 5 PublicationsCorresponds to variant dbSNP:rs1805318EnsemblClinVar.1
Natural variantiVAR_012973622M → I in HNPCC4; unknown pathological significance; significantly reduced interaction with MLH1; normal DNA mismatch repair activity. 6 PublicationsCorresponds to variant dbSNP:rs1805324EnsemblClinVar.1
Natural variantiVAR_078534663E → A in HNPCC4; unknown pathological significance; normal DNA mismatch repair activity. 2 PublicationsCorresponds to variant dbSNP:rs587779332EnsemblClinVar.1
Natural variantiVAR_079819699D → H Polymorphism; no effect on protein levels. 1 PublicationCorresponds to variant dbSNP:rs587781317EnsemblClinVar.1
Natural variantiVAR_012974705E → K in MMRCS and HNPCC4; decreases DNA mismatch repair activity. 3 PublicationsCorresponds to variant dbSNP:rs267608161EnsemblClinVar.1
Natural variantiVAR_078535750G → D in HNPCC4; unknown pathological significance; decreased DNA mismatch repair activity. 2 PublicationsCorresponds to variant dbSNP:rs587779337EnsemblClinVar.1
Natural variantiVAR_016135775N → S Polymorphism; normal DNA mismatch repair activity. 2 PublicationsCorresponds to variant dbSNP:rs17420802EnsemblClinVar.1
Natural variantiVAR_079820792D → N Polymorphism; no effect on protein levels. 1 PublicationCorresponds to variant dbSNP:rs587781265EnsemblClinVar.1
Natural variantiVAR_078536797M → R in HNPCC4; unknown pathological significance; normal DNA mismatch repair activity. 2 PublicationsCorresponds to variant dbSNP:rs267608152EnsemblClinVar.1
Natural variantiVAR_078537815S → L in MMRCS; decreased DNA mismatch repair activity. 1 PublicationCorresponds to variant dbSNP:rs587779338EnsemblClinVar.1
Natural variantiVAR_078538843C → Y in HNPCC4; decreased DNA mismatch repair activity. 2 PublicationsCorresponds to variant dbSNP:rs267608174EnsemblClinVar.1
Natural variantiVAR_079821853I → M Polymorphism; no effect on protein levels. 1 PublicationCorresponds to variant dbSNP:rs371673459EnsemblClinVar.1
Natural variantiVAR_078539857G → A Polymorphism; normal DNA mismatch repair activity. 2 PublicationsCorresponds to variant dbSNP:rs1802683EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_029384180 – 183EYAK → QASV in isoform 4. 1 Publication4
Alternative sequenceiVSP_029385184 – 862Missing in isoform 4. 1 PublicationAdd BLAST679
Alternative sequenceiVSP_029386269 – 669Missing in isoform 2. 1 PublicationAdd BLAST401
Alternative sequenceiVSP_029387560 – 572CKFRV…PTNLA → LKTGPSDPRTSMN in isoform 3. 1 PublicationAdd BLAST13
Alternative sequenceiVSP_029388573 – 862Missing in isoform 3. 1 PublicationAdd BLAST290

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
U13696 Genomic DNA Translation: AAA63923.1
AB103082 mRNA Translation: BAD89425.1
AB103083 mRNA Translation: BAD89426.1
AB103085 mRNA Translation: BAD89428.1
U14658 mRNA Translation: AAA50390.1
AK312390 mRNA Translation: BAG35307.1
AC005995 Genomic DNA Translation: AAS00390.1
BC093921 mRNA Translation: AAH93921.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS5343.1 [P54278-1]

Protein sequence database of the Protein Information Resource

More...PIRi		S47598

NCBI Reference Sequences

More...RefSeqi		NP_000526.2, NM_000535.6 [P54278-1]
NP_001308932.1, NM_001322003.1
NP_001308933.1, NM_001322004.1
NP_001308934.1, NM_001322005.1
NP_001308935.1, NM_001322006.1
NP_001308936.1, NM_001322007.1
NP_001308937.1, NM_001322008.1
NP_001308938.1, NM_001322009.1
NP_001308939.1, NM_001322010.1
NP_001308940.1, NM_001322011.1
NP_001308941.1, NM_001322012.1
NP_001308942.1, NM_001322013.1
NP_001308943.1, NM_001322014.1
NP_001308944.1, NM_001322015.1
XP_016885888.1, XM_017030399.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000265849; ENSP00000265849; ENSG00000122512 [P54278-1]
ENST00000382321; ENSP00000371758; ENSG00000122512 [P54278-2]
ENST00000643595; ENSP00000494497; ENSG00000122512 [P54278-4]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		5395

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:5395

UCSC genome browser

More...UCSCi		uc003spl.4 human [P54278-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Hereditary non-polyposis colorectal cancer db

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U13696 Genomic DNA Translation: AAA63923.1
AB103082 mRNA Translation: BAD89425.1
AB103083 mRNA Translation: BAD89426.1
AB103085 mRNA Translation: BAD89428.1
U14658 mRNA Translation: AAA50390.1
AK312390 mRNA Translation: BAG35307.1
AC005995 Genomic DNA Translation: AAS00390.1
BC093921 mRNA Translation: AAH93921.1
CCDSiCCDS5343.1 [P54278-1]
PIRiS47598
RefSeqiNP_000526.2, NM_000535.6 [P54278-1]
NP_001308932.1, NM_001322003.1
NP_001308933.1, NM_001322004.1
NP_001308934.1, NM_001322005.1
NP_001308935.1, NM_001322006.1
NP_001308936.1, NM_001322007.1
NP_001308937.1, NM_001322008.1
NP_001308938.1, NM_001322009.1
NP_001308939.1, NM_001322010.1
NP_001308940.1, NM_001322011.1
NP_001308941.1, NM_001322012.1
NP_001308942.1, NM_001322013.1
NP_001308943.1, NM_001322014.1
NP_001308944.1, NM_001322015.1
XP_016885888.1, XM_017030399.1

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1EA6X-ray2.70A/B1-364[»]
1H7SX-ray1.95A/B1-365[»]
1H7UX-ray2.70A/B1-365[»]
5U5RX-ray2.10B573-583[»]
6MFQX-ray2.60A/B1-365[»]
SMRiP54278
ModBaseiSearch...

Protein-protein interaction databases

BioGridi111404, 55 interactors
CORUMiP54278
DIPiDIP-46295N
IntActiP54278, 27 interactors
MINTiP54278
STRINGi9606.ENSP00000265849

Chemistry databases

DrugBankiDB02930 Phosphothiophosphoric Acid-Adenylate Ester

PTM databases

iPTMnetiP54278
PhosphoSitePlusiP54278

Polymorphism and mutation databases

BioMutaiPMS2
DMDMi317373266

2D gel databases

SWISS-2DPAGEiP54278

Proteomic databases

EPDiP54278
jPOSTiP54278
MaxQBiP54278
PaxDbiP54278
PeptideAtlasiP54278
PRIDEiP54278
ProteomicsDBi56669
56670 [P54278-2]
56671 [P54278-3]
56672 [P54278-4]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000265849; ENSP00000265849; ENSG00000122512 [P54278-1]
ENST00000382321; ENSP00000371758; ENSG00000122512 [P54278-2]
ENST00000643595; ENSP00000494497; ENSG00000122512 [P54278-4]
GeneIDi5395
KEGGihsa:5395
UCSCiuc003spl.4 human [P54278-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		5395
DisGeNETi5395

GeneCards: human genes, protein and diseases

More...GeneCardsi		PMS2
GeneReviewsiPMS2
HGNCiHGNC:9122 PMS2
HPAiCAB010235
HPA044400
HPA066490
HPA070310
MalaCardsiPMS2
MIMi276300 phenotype
600259 gene
614337 phenotype
neXtProtiNX_P54278
OpenTargetsiENSG00000122512
Orphaneti252202 Constitutional mismatch repair deficiency syndrome
144 Lynch syndrome
PharmGKBiPA33448

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG1978 Eukaryota
COG0323 LUCA
GeneTreeiENSGT00940000155381
HOGENOMiHOG000165474
InParanoidiP54278
KOiK10858
OMAiFFFINQR
OrthoDBi735423at2759
PhylomeDBiP54278
TreeFamiTF300711

Enzyme and pathway databases

ReactomeiR-HSA-5358565 Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha)
R-HSA-5358606 Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta)
R-HSA-5545483 Defective Mismatch Repair Associated With MLH1
R-HSA-5632987 Defective Mismatch Repair Associated With PMS2
R-HSA-6796648 TP53 Regulates Transcription of DNA Repair Genes
SIGNORiP54278

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		PMS2 human
EvolutionaryTraceiP54278

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		PMS2

Protein Ontology

More...PROi		PR:P54278

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000122512 Expressed in 93 organ(s), highest expression level in kidney
ExpressionAtlasiP54278 baseline and differential
GenevisibleiP54278 HS

Family and domain databases

CDDicd00075 HATPase_c, 1 hit
Gene3Di2.30.42.20, 1 hit
3.30.1370.100, 1 hit
3.30.230.10, 1 hit
3.30.565.10, 1 hit
InterProiView protein in InterPro
IPR014762 DNA_mismatch_repair_CS
IPR002099 DNA_mismatch_repair_N
IPR013507 DNA_mismatch_S5_2-like
IPR003594 HATPase_C
IPR036890 HATPase_C_sf
IPR038973 MutL/Mlh/Pms
IPR014790 MutL_C
IPR042120 MutL_C_dimsub
IPR042121 MutL_C_regsub
IPR037198 MutL_C_sf
IPR020568 Ribosomal_S5_D2-typ_fold
IPR014721 Ribosomal_S5_D2-typ_fold_subgr
PANTHERiPTHR10073 PTHR10073, 1 hit
PfamiView protein in Pfam
PF01119 DNA_mis_repair, 1 hit
PF08676 MutL_C, 1 hit
SMARTiView protein in SMART
SM01340 DNA_mis_repair, 1 hit
SM00853 MutL_C, 1 hit
SUPFAMiSSF118116 SSF118116, 1 hit
SSF54211 SSF54211, 1 hit
SSF55874 SSF55874, 1 hit
TIGRFAMsiTIGR00585 mutl, 1 hit
PROSITEiView protein in PROSITE
PS00058 DNA_MISMATCH_REPAIR_1, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiPMS2_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P54278
Secondary accession number(s): B2R610
, Q52LH6, Q5FBW9, Q5FBX1, Q5FBX2, Q75MR2
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: January 11, 2011
Last modified: May 8, 2019
This is version 201 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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