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Genes
MLH1
Gene - MLH1
full name
mutL homolog 1
synonyms
COCA2, FCC2, hMLH1, HNPCC, HNPCC2, MLH1, ENSG00000076242
HGNC
HGNC:7127
Entrez Gene
Gene:4292
ENSEMBL
ENSG00000076242
location
chr: 3
start: 37034841
stop: 37092337
strand: +
OMIM
OMIM:120436
: MLH1
(Autosomal dominant inheritance)
OMIM:609310
: Colorectal cancer, hereditary nonpolyposis, type 2
OMIM:276300
: Mismatch repair cancer syndrome
OMIM:158320
: Muir-Torre syndrome
transcripts
NM_000249.3
NM_001258271.1
NM_001258273.1
NM_001258274.1
NM_001167619.1
NM_001167617.1
NM_001167618.1
pathways
Cell Cycle
[NCBI:1269741]
[REACTOME:R-HSA-1640170]
Colorectal cancer
[NCBI:83106]
[KEGG:hsa05210]
[PUBMED:15479695]
[PUBMED:11459867]
[PUBMED:9196022]
[PUBMED:11170304]
[PUBMED:12951588]
[PUBMED:15349822]
[PUBMED:15711891]
[PUBMED:16042571]
[PUBMED:15000146]
[PUBMED:12737309]
[PUBMED:10505543]
[PUBMED:11078609]
[PUBMED:11223406]
[PUBMED:16326109]
[PUBMED:16699851]
[PUBMED:11477132]
[PUBMED:12621137]
[PUBMED:15573119]
[PUBMED:16555243]
[PUBMED:15310786]
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]
Endometrial cancer
[NCBI:83109]
[KEGG:hsa05213]
[PUBMED:14747944]
[PUBMED:11431710]
[PUBMED:7585656]
[PUBMED:16508724]
[PUBMED:15284264]
[PUBMED:17028294]
[PUBMED:16248975]
[PUBMED:15947972]
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]
Meiosis
[NCBI:1269865]
[REACTOME:R-HSA-1500620]
[PUBMED:20051984]
[PUBMED:20364103]
[PUBMED:16543383]
[PUBMED:18948708]
Meiotic recombination
[NCBI:1269866]
[REACTOME:R-HSA-912446]
[PUBMED:16543383]
[PUBMED:20364103]
[PUBMED:20051984]
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]
Pathways in cancer
[NCBI:83105]
[KEGG:hsa05200]
[PUBMED:12244301]
[PUBMED:15156182]
[PUBMED:16899407]
[PUBMED:12621137]
[PUBMED:21193867]
[PUBMED:16001072]
[PUBMED:11707511]
[PUBMED:11253051]
[PUBMED:11071626]
[PUBMED:17251915]
[PUBMED:11736900]
[PUBMED:16557281]
[PUBMED:16699851]
[PUBMED:16189702]
[PUBMED:11902573]
[PUBMED:16555243]
[PUBMED:8069858]
[PUBMED:15310786]
[PUBMED:9834202]
[PUBMED:16700615]
[PUBMED:12545153]
[PUBMED:15656799]
[PUBMED:12154354]
[PUBMED:11895903]
[PUBMED:11527574]
[PUBMED:16326109]
[PUBMED:16339096]
[PUBMED:11160144]
[PUBMED:15724144]
[PUBMED:12951584]
[PUBMED:10647931]
[PUBMED:16881963]
[PUBMED:15557758]
[PUBMED:11477132]
[PUBMED:15721476]
[PUBMED:15625120]
[PUBMED:16236521]
[PUBMED:14967450]
[PUBMED:15942304]
[PUBMED:17287871]
[PUBMED:14634372]
[PUBMED:15573119]
[PUBMED:15009714]
[PUBMED:16112428]
[PUBMED:15611513]
[PUBMED:16001050]
[PUBMED:15349822]
[PUBMED:16551846]
[PUBMED:15978322]
[PUBMED:15774796]
[PUBMED:16352814]
[PUBMED:12951588]
[PUBMED:10944551]
[PUBMED:10740269]
[PUBMED:15639402]
[PUBMED:12407699]
[PUBMED:11130178]
[PUBMED:15109562]
[PUBMED:11170304]
[PUBMED:11276000]
[PUBMED:9643506]
[PUBMED:16248975]
[PUBMED:16242838]
[PUBMED:12946833]
[PUBMED:11559746]
[PUBMED:9196022]
[PUBMED:12079267]
[PUBMED:15468170]
[PUBMED:16064138]
[PUBMED:14580692]
[PUBMED:15082523]
[PUBMED:15551095]
[PUBMED:17062879]
[PUBMED:17211469]
[PUBMED:11720739]
[PUBMED:12588368]
[PUBMED:11057895]
[PUBMED:9422516]
[PUBMED:12894244]
[PUBMED:15479695]
[PUBMED:16189154]
[PUBMED:12878745]
[PUBMED:11900250]
[PUBMED:11103787]
[PUBMED:15122209]
[PUBMED:12711111]
[PUBMED:12243753]
[PUBMED:16306523]
[PUBMED:16702400]
[PUBMED:15270885]
[PUBMED:14685170]
[PUBMED:14586404]
[PUBMED:11078609]
[PUBMED:15284264]
[PUBMED:10505543]
[PUBMED:11223406]
[PUBMED:14982876]
[PUBMED:12648469]
[PUBMED:12867060]
[PUBMED:15711891]
[PUBMED:12094241]
[PUBMED:16642045]
[PUBMED:11463388]
[PUBMED:12762887]
[PUBMED:15746962]
[PUBMED:15823750]
[PUBMED:16750612]
[PUBMED:16484590]
[PUBMED:11459867]
[PUBMED:16146838]
[PUBMED:14556242]
[PUBMED:15947972]
[PUBMED:12563308]
[PUBMED:16946003]
[PUBMED:15948971]
[PUBMED:11407945]
[PUBMED:12737309]
[PUBMED:16095998]
[PUBMED:12351585]
[PUBMED:24508914]
[PUBMED:12084351]
[PUBMED:11807782]
[PUBMED:14695152]
[PUBMED:10453277]
[PUBMED:17554387]
[PUBMED:15841168]
[PUBMED:12616528]
[PUBMED:10403855]
[PUBMED:16054233]
[PUBMED:16474624]
[PUBMED:16822996]
[PUBMED:17028294]
[PUBMED:11224709]
[PUBMED:11750244]
[PUBMED:11905738]
[PUBMED:15719031]
[PUBMED:10843728]
[PUBMED:16110317]
[PUBMED:11721960]
[PUBMED:12741677]
[PUBMED:7585656]
[PUBMED:12801837]
[PUBMED:16551847]
[PUBMED:12459728]
[PUBMED:11431710]
[PUBMED:12468433]
[PUBMED:11165748]
[PUBMED:16042571]
[PUBMED:16508724]
[PUBMED:15000146]
[PUBMED:17149381]
[PUBMED:15948711]
[PUBMED:14747944]
[PUBMED:14737121]
[PUBMED:12379883]
[PUBMED:17158541]
[PUBMED:12850530]
[PUBMED:10835690]
[PUBMED:16870043]
Platinum drug resistance
[NCBI:1404797]
[KEGG:hsa01524]
[PUBMED:24074238]
[PUBMED:26867799]
[PUBMED:14609433]
[PUBMED:26184483]
[PUBMED:24874729]
[PUBMED:15607932]
[PUBMED:25546083]
[PUBMED:25058905]
[PUBMED:19190080]
[PUBMED:14576837]
[PUBMED:20811617]
[PUBMED:21892204]
[PUBMED:20647037]
[PUBMED:17336087]
[PUBMED:26886018]
[PUBMED:23442359]
[PUBMED:17625587]
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]