PMS2
entrez
5395
canonical
uniprot
P54278
canonical
ensembl
ENSG00000122512
resolver
ensp
ENSP00000265849
resolver
ensp
ENSP00000371758
resolver
ensp
ENSP00000493814
resolver
ensp
ENSP00000495524
resolver
ensp
ENSP00000514561
resolver
ensp
ENSP00000514563
resolver
ensp
ENSP00000514568
resolver
ensp
ENSP00000514569
resolver
ensp
ENSP00000514570
resolver
ensp
ENSP00000514574
resolver
ensp
ENSP00000514576
resolver
ensp
ENSP00000514614
resolver
ensp
ENSP00000514619
resolver
ensp
ENSP00000514622
resolver
ensp
ENSP00000514624
resolver
ensp
ENSP00000514626
resolver
ensp
ENSP00000514628
resolver
ensp
ENSP00000514635
resolver
ensp
ENSP00000514637
resolver
ensp
ENSP00000514695
resolver
ensp
ENSP00000603373
resolver
enst
ENST00000642292
resolver
enst
ENST00000642456
resolver
enst
ENST00000699752
resolver
enst
ENST00000699754
resolver
enst
ENST00000699760
resolver
enst
ENST00000699761
resolver
enst
ENST00000699762
resolver
enst
ENST00000699766
resolver
enst
ENST00000699768
resolver
enst
ENST00000699811
resolver
enst
ENST00000699818
resolver
enst
ENST00000699821
resolver
enst
ENST00000699823
resolver
enst
ENST00000699825
resolver
enst
ENST00000699827
resolver
enst
ENST00000699837
resolver
enst
ENST00000699839
resolver
enst
ENST00000699930
resolver
genesymbol
PMS2
resolver
genesymbol_syn
PMSL2
resolver
hgnc
HGNC:9122
resolver
uniprot
A0A2R8Y6S3
resolver
uniprot
A0A8V8TNX6
resolver
uniprot
A0A8V8TNY8
resolver
uniprot
A0A8V8TP61
resolver
uniprot
A0A8V8TP84
resolver
uniprot
A0A8V8TPE1
resolver
uniprot
A0A8V8TQ50
resolver
uniprot
A0A8V8TQ92
resolver
uniprot
A0A8V8TQG9
resolver
uniprot
A0A8V8TQI1
resolver
uniprot
A0A8V8TQS5
resolver
uniprot
B2R610
resolver
uniprot
B4DGM0
resolver
uniprot
C9J167
resolver
uniprot
Q52LH6
resolver
uniprot
Q5FBW9
resolver
uniprot
Q5FBX1
resolver
uniprot
Q5FBX2
resolver
uniprot
Q75MR2
resolver
uniprot_entry
A0A2R8Y6S3_HUMAN
resolver
uniprot_entry
A0A8V8TNX6_HUMAN
resolver
uniprot_entry
A0A8V8TNY8_HUMAN
resolver
uniprot_entry
A0A8V8TP61_HUMAN
resolver
uniprot_entry
A0A8V8TP84_HUMAN
resolver
uniprot_entry
A0A8V8TPE1_HUMAN
resolver
uniprot_entry
A0A8V8TQ50_HUMAN
resolver
uniprot_entry
A0A8V8TQ92_HUMAN
resolver
uniprot_entry
A0A8V8TQG9_HUMAN
resolver
uniprot_entry
A0A8V8TQI1_HUMAN
resolver
uniprot_entry
A0A8V8TQS5_HUMAN
resolver
uniprot_entry
B4DGM0_HUMAN
resolver
uniprot_entry
C9J167_HUMAN
resolver
uniprot_entry
PMS2_HUMAN
resolver
uniprot_sec
B2R610
resolver
uniprot_sec
Q52LH6
resolver
uniprot_sec
Q5FBW9
resolver
uniprot_sec
Q5FBX1
resolver
uniprot_sec
Q5FBX2
resolver
uniprot_sec
Q75MR2
resolver
amino_acid_sequence
MERAESSSTEPAKAIKPIDRKSVHQICSGQVVLSLSTAVKELVENSLDAGATNIDLKLKDYGVDLIEVSDNGCGVEEENFEGLTLKHHTSKIQEFADLTQVETFGFRGEALSSLCALSDVTISTCHASAKVGTRLMFDHNGKIIQKTPYPRPRGTTVSVQQLFSTLPVRHKEFQRNIKKEYAKMVQVLHAYCIISAGIRVSCTNQLGQGKRQPVVCTGGSPSIKENIGSVFGQKQLQSLIPFVQLPPSDSVCEEYGLSCSDALHNLFYISGFISQCTHGVGRSSTDRQFFFINRRPCDPAKVCRLVNEVYHMYNRHQYPFVVLNISVDSECVDINVTPDKRQILLQEEKLLLAVLKTSLIGMFDSDVNKLNVSQQPLLDVEGNLIKMHAADLEKPMVEKQDQSPSLRTGEEKKDVSISRLREAFSLRHTTENKPHSPKTPEPRRSPLGQKRGMLSSSTSGAISDKGVLRPQKEAVSSSHGPSDPTDRAEVEKDSGHGSTSVDSEGFSIPDTGSHCSSEYAASSPGDRGSQEHVDSQEKAPKTDDSFSDVDCHSNQEDTGCKFRVLPQPTNLATPNTKRFKKEEILSSSDICQKLVNTQDMSASQVDVAVKINKKVVPLDFSMSSLAKRIKQLHHEAQQSEGEQNYRKFRAKICPGENQAAEDELRKEISKTMFAEMEIIGQFNLGFIITKLNEDIFIVDQHATDEKYNFEMLQQHTVLQGQRLIAPQTLNLTAVNEAVLIENLEIFRKNGFDFVIDENAPVTERAKLISLPTSKNWTFGPQDVDELIFMLSDSPGVMCRPSRVKQMFASRACRKSVMIGTALNTSEMKKLITHMGEMDHPWNCPHGRPTMRHIANLGVISQN
uniprot
proteins
disease_involvement
DISEASE: Lynch syndrome 4 (LYNCH4) [MIM:614337]: A form of Lynch syndrome, 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. Lynch syndrome is reported to be the most common form of inherited colorectal cancer in the Western world. Clinically, it 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 Lynch syndrome 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 Lynch syndrome' or 'incomplete Lynch syndrome' 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. {ECO:0000269|PubMed:10480359, ECO:0000269|PubMed:11793469, ECO:0000269|PubMed:15887124, ECO:0000269|PubMed:16472587, ECO:0000269|PubMed:16619239, ECO:0000269|PubMed:18178629, ECO:0000269|PubMed:18602922, ECO:0000269|PubMed:19479271, ECO:0000269|PubMed:20205264, ECO:0000269|PubMed:23709753, ECO:0000269|PubMed:24027009, ECO:0000269|PubMed:30653781, ECO:0000269|PubMed:35189042}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Mismatch repair cancer syndrome 4 (MMRCS4) [MIM:619101]: An autosomal recessive form of mismatch repair cancer syndrome, a 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. {ECO:0000269|PubMed:15077197, ECO:0000269|PubMed:17557300, ECO:0000269|PubMed:27435373, ECO:0000269|PubMed:7661930, ECO:0000269|PubMed:9419979}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.1.-.-
uniprot
proteins
function
FUNCTION: Component of the post-replicative DNA mismatch repair system (MMR) (PubMed:30653781, PubMed:35189042). 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. Possesses an ATPase activity, but in the absence of gross structural changes, ATP hydrolysis may not be necessary for proficient mismatch repair (PubMed:35189042). {ECO:0000269|PubMed:16873062, ECO:0000269|PubMed:18206974, ECO:0000269|PubMed:23709753, ECO:0000269|PubMed:30653781, ECO:0000269|PubMed:35189042}.
uniprot
proteins
mass_dalton
95797
uniprot
proteins
mutagenesis
MUTAGEN 41; /note="E->A: Decreased DNA mismatch repair activity; loss of ATPase activity."; /evidence="ECO:0000269|PubMed:11574484, ECO:0000269|PubMed:24027009"; MUTAGEN 70; /note="D->N: No effect on protein abundance, no effect on subcellular localization and loss of DNA mismatch repair activity."; /evidence="ECO:0000269|PubMed:23709753"; MUTAGEN 519; /note="Y->C: No effect on DNA mismatch repair activity."; /evidence="ECO:0000269|PubMed:24027009"; MUTAGEN 577; /note="K->N: Affects binding to importins alpha, including KPNA2, hence may affect import to the nucleus."; /evidence="ECO:0000269|PubMed:29175432"; MUTAGEN 578; /note="R->N: Affects binding to importins alpha, including KPNA2, hence may affect import to the nucleus."; /evidence="ECO:0000269|PubMed:29175432
uniprot
proteins
protein_family
DNA mismatch repair MutL/HexB family
uniprot
proteins
pubmed
10480359
uniprot
proteins
pubmed
10783165
uniprot
proteins
pubmed
11574484
uniprot
proteins
pubmed
11793469
uniprot
proteins
pubmed
12853948
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15077197
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15887124
uniprot
proteins
pubmed
16188885
uniprot
proteins
pubmed
16472587
uniprot
proteins
pubmed
16619239
uniprot
proteins
pubmed
16873053
uniprot
proteins
pubmed
16873062
uniprot
proteins
pubmed
17557300
uniprot
proteins
pubmed
18157157
uniprot
proteins
pubmed
18178629
uniprot
proteins
pubmed
18206974
uniprot
proteins
pubmed
18602922
uniprot
proteins
pubmed
19479271
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
20186689
uniprot
proteins
pubmed
20205264
uniprot
proteins
pubmed
20603073
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23709753
uniprot
proteins
pubmed
24027009
uniprot
proteins
pubmed
27435373
uniprot
proteins
pubmed
28494185
uniprot
proteins
pubmed
29175432
uniprot
proteins
pubmed
30653781
uniprot
proteins
pubmed
35189042
uniprot
proteins
pubmed
7661930
uniprot
proteins
pubmed
8072530
uniprot
proteins
pubmed
9419979
uniprot
proteins
sequence_length
862
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:23709753, ECO:0000269|PubMed:30653781}.
uniprot
proteins