Logo
full name
PMS1 homolog 2, mismatch repair system component

synonyms
HNPCC4, PMS2CL, PMSL2, PMS2, ENSG00000122512

HGNC
HGNC:9122

Entrez Gene
Gene:5395

ENSEMBL
ENSG00000122512

location
chr: 7
start: 6012870
stop: 6048737
strand: -

OMIM
OMIM:600259: PMS2 (Autosomal dominant inheritance)
OMIM:614337: Colorectal cancer, hereditary nonpolyposis, type 4
OMIM:276300: Mismatch repair cancer syndrome

transcripts
NR_003085.2
ENST00000265849.7

pathways
DNA Repair [NCBI:1270350] [REACTOME:R-HSA-73894] [PUBMED:10583946] [PUBMED:23175119]
Direct p53 effectors [NCBI:137939] [Pathway Interaction Database:p53downstreampathway] [PUBMED:7479001] [PUBMED:19626115] [PUBMED:10692390] [PUBMED:15289308] [PUBMED:14688482] [PUBMED:16301995] [PUBMED:11850816] [PUBMED:12370809] [PUBMED:16260627] [PUBMED:15186775] [PUBMED:15580302] [PUBMED:10748162] [PUBMED:10919640] [PUBMED:19011621] [PUBMED:12438652] [PUBMED:11559530] [PUBMED:11641774] [PUBMED:11971958] [PUBMED:9659898] [PUBMED:9343394] [PUBMED:10716435] [PUBMED:17146433] [PUBMED:17719542] [PUBMED:17938176] [PUBMED:17409421] [PUBMED:11032029] [PUBMED:15781865] [PUBMED:11463392] [PUBMED:9736732] [PUBMED:17268548] [PUBMED:8570655] [PUBMED:18046411] [PUBMED:12944906] [PUBMED:16249378] [PUBMED:15273740] [PUBMED:15598651] [PUBMED:10618379] [PUBMED:15958553] [PUBMED:17189187] [PUBMED:17145718] [PUBMED:11988847] [PUBMED:8119988] [PUBMED:12089322] [PUBMED:16286009] [PUBMED:12890671] [PUBMED:12402042] [PUBMED:10618714] [PUBMED:14730312] [PUBMED:12857899] [PUBMED:14963330] [PUBMED:11278953] [PUBMED:11973653] [PUBMED:12692263] [PUBMED:10984493] [PUBMED:10640990] [PUBMED:11545734] [PUBMED:16151013] [PUBMED:12372430] [PUBMED:16651407] [PUBMED:9891062] [PUBMED:12606722] [PUBMED:12453409] [PUBMED:15377670] [PUBMED:12667443] [PUBMED:17707234] [PUBMED:9920903] [PUBMED:14992722] [PUBMED:15790310] [PUBMED:15831478] [PUBMED:11314010] [PUBMED:10329733] [PUBMED:17264218] [PUBMED:11511362] [PUBMED:11919562] [PUBMED:11814693] [PUBMED:17554199] [PUBMED:18250150] [PUBMED:10518217] [PUBMED:10891498] [PUBMED:10973264] [PUBMED:15077116] [PUBMED:16230375] [PUBMED:18485870] [PUBMED:7796420] [PUBMED:15710382] [PUBMED:17409411] [PUBMED:8319905] [PUBMED:10684646] [PUBMED:7566179] [PUBMED:8887630] [PUBMED:11807984] [PUBMED:9841917] [PUBMED:12654245] [PUBMED:9023107] [PUBMED:15103385] [PUBMED:11684014] [PUBMED:17110336] [PUBMED:11278253] [PUBMED:14576823] [PUBMED:8418500] [PUBMED:11350971] [PUBMED:11840333] [PUBMED:7651818] [PUBMED:7651386] [PUBMED:15378026] [PUBMED:15607964] [PUBMED:11279192] [PUBMED:10777218] [PUBMED:15334053] [PUBMED:12138177] [PUBMED:9619826] [PUBMED:16278683] [PUBMED:17189186] [PUBMED:16140933] [PUBMED:10094469] [PUBMED:9926927] [PUBMED:17719541] [PUBMED:15735003] [PUBMED:12853982] [PUBMED:14707288] [PUBMED:10777207]
Fanconi anemia pathway [NCBI:377262] [KEGG:hsa03460] [PUBMED:19805513] [PUBMED:18518821] [PUBMED:18047734] [PUBMED:20039786] [PUBMED:21701511] [PUBMED:20064461]
Gene Expression [NCBI:1269649] [REACTOME:R-HSA-74160]
Generic Transcription Pathway [NCBI:1269650] [REACTOME:R-HSA-212436] [PUBMED:15175151] [PUBMED:14744435] [PUBMED:15680972] [PUBMED:11395415] [PUBMED:15896744] [PUBMED:10235266] [PUBMED:14986688] [PUBMED:12023297] [PUBMED:15680973] [PUBMED:16751179] [PUBMED:11861166] [PUBMED:16429119] [PUBMED:16719718] [PUBMED:16921404] [PUBMED:15690163]
Mismatch Repair [NCBI:1270411] [REACTOME:R-HSA-5358508] [PUBMED:19138690] [PUBMED:23545421] [PUBMED:16464007] [PUBMED:20725617] [PUBMED:10072354] [PUBMED:18157157] [PUBMED:23572416]
Mismatch repair [NCBI:83045] [KEGG:hsa03430] [PUBMED:11436301] [PUBMED:18157157] [PUBMED:16612326] [PUBMED:11920679]
Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta) [NCBI:1270413] [REACTOME:R-HSA-5358606] [PUBMED:9677427] [PUBMED:11920679] [PUBMED:9294177] [PUBMED:9671718] [PUBMED:8805365]
Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha) [NCBI:1270412] [REACTOME:R-HSA-5358565] [PUBMED:9294177] [PUBMED:23391514] [PUBMED:9671718]
TP53 Regulates Transcription of DNA Repair Genes [NCBI:1383075] [REACTOME:R-HSA-6796648] [PUBMED:10984493] [PUBMED:25712099] [PUBMED:22988298] [PUBMED:12771027] [PUBMED:23139867] [PUBMED:11971958] [PUBMED:22012619] [PUBMED:11988847] [PUBMED:9858527] [PUBMED:26773055] [PUBMED:15781865] [PUBMED:11350971] [PUBMED:25429106] [PUBMED:12170774] [PUBMED:20096807] [PUBMED:18187580] [PUBMED:9063748] [PUBMED:24662513]
Transcriptional Regulation by TP53 [NCBI:1269654] [REACTOME:R-HSA-3700989] [PUBMED:26122615] [PUBMED:19410540]