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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-Experimental evidence at protein leveli

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-MSH6) 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

GO - Molecular functioni

  • ATPase activity Source: GO_Central
  • ATP binding Source: InterPro
  • DNA binding Source: HGNC
  • endonuclease activity Source: Reactome
  • single base insertion or deletion binding Source: HGNC

GO - Biological processi

  • mismatch repair Source: UniProtKB
  • response to drug Source: Ensembl
  • somatic hypermutation of immunoglobulin genes Source: GO_Central
Complete GO annotation...

Keywords - Molecular functioni

Endonuclease, Hydrolase, Nuclease

Keywords - Biological processi

DNA damage, DNA repair

Enzyme and pathway databases

BioCyciZFISH:ENSG00000122512-MONOMER.
ReactomeiR-HSA-5358565. Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha).
R-HSA-5358606. Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta).
R-HSA-6796648. TP53 Regulates Transcription of DNA Repair Genes.
SIGNORiP54278.

Names & Taxonomyi

Protein namesi
Recommended name:
Mismatch repair endonuclease PMS2Curated (EC:3.1.-.-)
Alternative name(s):
DNA mismatch repair protein PMS2
PMS1 protein homolog 2
Gene namesi
Name:PMS2Imported
Synonyms:PMSL2Imported
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

HGNCiHGNC:9122. PMS2.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: HPA
  • microtubule cytoskeleton Source: HPA
  • MutLalpha complex Source: GO_Central
  • nucleoplasm Source: HPA
  • nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Hereditary non-polyposis colorectal cancer 4 (HNPCC4)3 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.
See also OMIM:614337
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06683846S → I in MMRCS and HNPCC4; no effect on protein abundance; no effect on subcellular localization; decreased DNA mismatch repair activity. 2 PublicationsCorresponds to variant rs121434629dbSNPEnsembl.1
Mismatch repair cancer syndrome (MMRCS)4 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.
See also OMIM:276300
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06683846S → I in MMRCS and HNPCC4; no effect on protein abundance; no effect on subcellular localization; decreased DNA mismatch repair activity. 2 PublicationsCorresponds to variant rs121434629dbSNPEnsembl.1
Natural variantiVAR_012974705E → K in MMRCS; unknown pathological significance. 1 PublicationCorresponds to variant rs267608161dbSNPEnsembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi70D → N: No effect on protein abundance, no effect on subcellular localization and loss of DNA mismatch repair activity. 1 Publication1

Keywords - Diseasei

Disease mutation, Hereditary nonpolyposis colorectal cancer, Tumor suppressor

Organism-specific databases

DisGeNETi5395.
MalaCardsiPMS2.
MIMi276300. phenotype.
614337. phenotype.
OpenTargetsiENSG00000122512.
Orphaneti252202. Constitutional mismatch repair deficiency syndrome.
144. Hereditary nonpolyposis colon cancer.
99817. Non-polyposis Turcot syndrome.
PharmGKBiPA33448.

Polymorphism and mutation databases

BioMutaiPMS2.
DMDMi317373266.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001780051 – 862Mismatch repair endonuclease PMS2Add BLAST862

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei573PhosphothreonineCombined sources1
Modified residuei597PhosphothreonineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiP54278.
MaxQBiP54278.
PaxDbiP54278.
PeptideAtlasiP54278.
PRIDEiP54278.

2D gel databases

SWISS-2DPAGEP54278.

PTM databases

iPTMnetiP54278.
PhosphoSitePlusiP54278.

Expressioni

Gene expression databases

BgeeiENSG00000122512.
CleanExiHS_PMS2.
ExpressionAtlasiP54278. baseline and differential.
GenevisibleiP54278. HS.

Organism-specific databases

HPAiCAB010235.
HPA043839.
HPA044400.

Interactioni

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

Binary interactionsi

WithEntry#Exp.IntActNotes
MLH1P406927EBI-1162561,EBI-744248

Protein-protein interaction databases

BioGridi111404. 55 interactors.
DIPiDIP-27602N.
IntActiP54278. 25 interactors.
MINTiMINT-2804140.
STRINGi9606.ENSP00000265849.

Structurei

Secondary structure

1862
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi30 – 32Combined sources3
Helixi35 – 48Combined sources14
Beta strandi52 – 59Combined sources8
Helixi60 – 62Combined sources3
Beta strandi64 – 70Combined sources7
Helixi77 – 79Combined sources3
Helixi81 – 84Combined sources4
Beta strandi101 – 109Combined sources9
Helixi110 – 117Combined sources8
Beta strandi118 – 125Combined sources8
Beta strandi133 – 137Combined sources5
Beta strandi143 – 148Combined sources6
Beta strandi153 – 161Combined sources9
Turni162 – 165Combined sources4
Helixi167 – 175Combined sources9
Helixi177 – 194Combined sources18
Beta strandi199 – 205Combined sources7
Beta strandi211 – 216Combined sources6
Helixi223 – 231Combined sources9
Helixi233 – 237Combined sources5
Beta strandi239 – 241Combined sources3
Helixi249 – 255Combined sources7
Turni259 – 263Combined sources5
Beta strandi268 – 274Combined sources7
Turni278 – 280Combined sources3
Beta strandi281 – 285Combined sources5
Beta strandi288 – 292Combined sources5
Beta strandi295 – 297Combined sources3
Helixi300 – 311Combined sources12
Beta strandi321 – 326Combined sources6
Helixi329 – 331Combined sources3
Beta strandi332 – 334Combined sources3
Beta strandi343 – 345Combined sources3
Helixi348 – 363Combined sources16

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1EA6X-ray2.70A/B1-364[»]
1H7SX-ray1.95A/B1-365[»]
1H7UX-ray2.70A/B1-365[»]
ProteinModelPortaliP54278.
SMRiP54278.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP54278.

Family & Domainsi

Sequence similaritiesi

Phylogenomic databases

eggNOGiKOG1978. Eukaryota.
COG0323. LUCA.
GeneTreeiENSGT00530000063289.
HOGENOMiHOG000165474.
HOVERGENiHBG008219.
InParanoidiP54278.
KOiK10858.
OMAiGQFNHGF.
OrthoDBiEOG091G07MF.
PhylomeDBiP54278.
TreeFamiTF300711.

Family and domain databases

Gene3Di3.30.230.10. 1 hit.
3.30.565.10. 1 hit.
InterProiIPR013507. DNA_mismatch_repair_C.
IPR014762. DNA_mismatch_repair_CS.
IPR002099. DNA_mismatch_repair_fam.
IPR003594. HATPase_C.
IPR014790. MutL_C.
IPR028831. Pms1/Pms2/PMS2L.
IPR020568. Ribosomal_S5_D2-typ_fold.
IPR014721. Ribosomal_S5_D2-typ_fold_subgr.
[Graphical view]
PANTHERiPTHR10073:SF39. PTHR10073:SF39. 2 hits.
PfamiPF01119. DNA_mis_repair. 1 hit.
PF08676. MutL_C. 1 hit.
[Graphical view]
SMARTiSM01340. DNA_mis_repair. 1 hit.
SM00853. MutL_C. 1 hit.
[Graphical view]
SUPFAMiSSF54211. SSF54211. 1 hit.
SSF55874. SSF55874. 1 hit.
TIGRFAMsiTIGR00585. mutl. 1 hit.
PROSITEiPS00058. DNA_MISMATCH_REPAIR_1. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

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

This isoform has been chosen as the 'canonical' 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
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

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00446920R → Q Neutral polymorphism; no effect on protein abundance; no effect on subcellular localization; normal DNA mismatch repair activity. 2 PublicationsCorresponds to variant rs10254120dbSNPEnsembl.1
Natural variantiVAR_06683846S → I in MMRCS and HNPCC4; no effect on protein abundance; no effect on subcellular localization; decreased DNA mismatch repair activity. 2 PublicationsCorresponds to variant rs121434629dbSNPEnsembl.1
Natural variantiVAR_016133277T → K.Corresponds to variant rs1805322dbSNPEnsembl.1
Natural variantiVAR_016134470P → S Neutral polymorphism; no effect on protein abundance; no effect on subcellular localalization; normal DNA mismatch repair activity. 3 PublicationsCorresponds to variant rs1805321dbSNPEnsembl.1
Natural variantiVAR_012969479H → Q.1 PublicationCorresponds to variant rs63750685dbSNPEnsembl.1
Natural variantiVAR_012970485T → K.1 PublicationCorresponds to variant rs1805323dbSNPEnsembl.1
Natural variantiVAR_012971511T → A.1 PublicationCorresponds to variant rs2228007dbSNPEnsembl.1
Natural variantiVAR_024541541K → E.5 PublicationsCorresponds to variant rs2228006dbSNPEnsembl.1
Natural variantiVAR_012972597T → S May be associated with increased susceptibility to colorectal cancer; significantly reduced interaction with MLH1. 3 PublicationsCorresponds to variant rs1805318dbSNPEnsembl.1
Natural variantiVAR_012973622M → I May be associated with increased susceptibility to colorectal cancer; significantly reduced interaction with MLH1. 3 PublicationsCorresponds to variant rs1805324dbSNPEnsembl.1
Natural variantiVAR_012974705E → K in MMRCS; unknown pathological significance. 1 PublicationCorresponds to variant rs267608161dbSNPEnsembl.1
Natural variantiVAR_016135775N → S.1 PublicationCorresponds to variant rs17420802dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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:
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.
UniGeneiHs.632637.
Hs.715590.

Genome annotation databases

EnsembliENST00000265849; ENSP00000265849; ENSG00000122512. [P54278-1]
ENST00000382321; ENSP00000371758; ENSG00000122512. [P54278-2]
GeneIDi107984056.
5395.
KEGGihsa:5395.
UCSCiuc003spl.4. human. [P54278-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

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.
UniGeneiHs.632637.
Hs.715590.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1EA6X-ray2.70A/B1-364[»]
1H7SX-ray1.95A/B1-365[»]
1H7UX-ray2.70A/B1-365[»]
ProteinModelPortaliP54278.
SMRiP54278.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111404. 55 interactors.
DIPiDIP-27602N.
IntActiP54278. 25 interactors.
MINTiMINT-2804140.
STRINGi9606.ENSP00000265849.

PTM databases

iPTMnetiP54278.
PhosphoSitePlusiP54278.

Polymorphism and mutation databases

BioMutaiPMS2.
DMDMi317373266.

2D gel databases

SWISS-2DPAGEP54278.

Proteomic databases

EPDiP54278.
MaxQBiP54278.
PaxDbiP54278.
PeptideAtlasiP54278.
PRIDEiP54278.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000265849; ENSP00000265849; ENSG00000122512. [P54278-1]
ENST00000382321; ENSP00000371758; ENSG00000122512. [P54278-2]
GeneIDi107984056.
5395.
KEGGihsa:5395.
UCSCiuc003spl.4. human. [P54278-1]

Organism-specific databases

CTDi5395.
DisGeNETi5395.
GeneCardsiPMS2.
GeneReviewsiPMS2.
HGNCiHGNC:9122. PMS2.
HPAiCAB010235.
HPA043839.
HPA044400.
MalaCardsiPMS2.
MIMi276300. phenotype.
600259. gene.
614337. phenotype.
neXtProtiNX_P54278.
OpenTargetsiENSG00000122512.
Orphaneti252202. Constitutional mismatch repair deficiency syndrome.
144. Hereditary nonpolyposis colon cancer.
99817. Non-polyposis Turcot syndrome.
PharmGKBiPA33448.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1978. Eukaryota.
COG0323. LUCA.
GeneTreeiENSGT00530000063289.
HOGENOMiHOG000165474.
HOVERGENiHBG008219.
InParanoidiP54278.
KOiK10858.
OMAiGQFNHGF.
OrthoDBiEOG091G07MF.
PhylomeDBiP54278.
TreeFamiTF300711.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000122512-MONOMER.
ReactomeiR-HSA-5358565. Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha).
R-HSA-5358606. Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta).
R-HSA-6796648. TP53 Regulates Transcription of DNA Repair Genes.
SIGNORiP54278.

Miscellaneous databases

EvolutionaryTraceiP54278.
GeneWikiiPMS2.
GenomeRNAii5395.
PROiP54278.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000122512.
CleanExiHS_PMS2.
ExpressionAtlasiP54278. baseline and differential.
GenevisibleiP54278. HS.

Family and domain databases

Gene3Di3.30.230.10. 1 hit.
3.30.565.10. 1 hit.
InterProiIPR013507. DNA_mismatch_repair_C.
IPR014762. DNA_mismatch_repair_CS.
IPR002099. DNA_mismatch_repair_fam.
IPR003594. HATPase_C.
IPR014790. MutL_C.
IPR028831. Pms1/Pms2/PMS2L.
IPR020568. Ribosomal_S5_D2-typ_fold.
IPR014721. Ribosomal_S5_D2-typ_fold_subgr.
[Graphical view]
PANTHERiPTHR10073:SF39. PTHR10073:SF39. 2 hits.
PfamiPF01119. DNA_mis_repair. 1 hit.
PF08676. MutL_C. 1 hit.
[Graphical view]
SMARTiSM01340. DNA_mis_repair. 1 hit.
SM00853. MutL_C. 1 hit.
[Graphical view]
SUPFAMiSSF54211. SSF54211. 1 hit.
SSF55874. SSF55874. 1 hit.
TIGRFAMsiTIGR00585. mutl. 1 hit.
PROSITEiPS00058. DNA_MISMATCH_REPAIR_1. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiPMS2_HUMAN
AccessioniPrimary (citable) accession number: P54278
Secondary accession number(s): B2R610
, Q52LH6, Q5FBW9, Q5FBX1, Q5FBX2, Q75MR2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: January 11, 2011
Last modified: November 30, 2016
This is version 177 of the entry and version 2 of the sequence. [Complete history]
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.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.