Gene | Associated with MISMATCH REPAIR CANCER SYNDROME in | Link to HGNC | Cytogenetic band | Number of associated diseases | Associated diseases |
---|---|---|---|---|---|
MSH2 | ClinVar, OMIM | HGNC link | 2p21 | 3 | 276300, 158320, PS120435 |
PMS2 | ClinVar, OMIM, HUMSAVAR | HGNC link | 7p22.1 | 2 | 276300, PS120435 |
MSH6 | ClinVar, OMIM | HGNC link | 2p16.3 | 3 | 276300, PS120435, 608089 |
MLH1 | ClinVar, OMIM, HUMSAVAR | HGNC link | 3p22.2 | 3 | 276300, 158320, PS120435 |
Download the disease annotation in CSV format
regulated gene | associated to this disease | # TFs | TFs | # TFs associated with this disease | TFs associated with this disease |
---|---|---|---|---|---|
MSH2 | YES | 2 | MBD2, DNMT1 | 0 | |
MSH6 | YES | 1 | SP3 | 0 | |
MLH1 | YES | 1 | CEBPZ | 0 |
Gene1 | Gene2 | Direct Interaction | Number of shared interactors | Shared genes in interaction |
---|---|---|---|---|
MSH2 | PMS2 | Yes | 7 | MSH6, MSH3, PCNA, MSH2, EXO1, BRCA1, MLH1 |
MSH2 | MSH6 | Yes | 45 | ATM, AIRE, FAF2, RAD9A, PRKCZ, XRCC6, TP53, DTL, RAD50, SIRT7, SMARCAD1, SNW1, ATR, CDC5L, FEN1, MSH2, BLM, RFC1, PMS1, PMS2, BRCA1, RAD21, MRE11A, NBN, ATP6V1B2, RAD1, CEP19, MUTYH, BARD1, RNF126, SUPT16H, RAD51, PCNA, SLX4, SIRT6, CREBBP, MSH3, SUPT5H, CHEK1, HUS1, XRCC5, NTRK1, MYC, MLH1, POLK |
MSH2 | MLH1 | Yes | 20 | ATM, NBN, MSH3, PCNA, MYC, MRE11A, BARD1, PMS1, RFC1, MSH6, BLM, RAD50, PMS2, EXO1, NTRK1, SNW1, BRCA1, ANXA6, MSH2, FANCD2 |
PMS2 | MSH6 | Yes | 8 | MSH3, CLSPN, MSH2, PRKDC, TOPBP1, PCNA, BRCA1, MLH1 |
PMS2 | MLH1 | Yes | 20 | MSH3, ATAD3A, PCNA, PIK3C2A, MMS19, BRIP1, MSH2, PRKDC, RUVBL1, PSD3, RUVBL2, FAN1, EXO1, UBC, KPNA2, BRCA1, KPNB1, MSH6, SPRTN, AIFM1 |
MSH6 | MLH1 | Yes | 18 | ATM, NBN, MSH3, PRKDC, MSH2, BARD1, PMS1, RFC1, MYC, BLM, PMS2, MRE11A, SMC1A, PCNA, NTRK1, RAD50, SNW1, BRCA1 |
Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)
Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)
Gene1 | Gene2 | Direct Interaction | Complexes | Number of shared interactors | Shared genes in interaction |
---|---|---|---|---|---|
MSH2 | PMS2 | Yes | MSH2-MSH6-PMS2-MLH1 complex;MSH2-MLH1-PMS2 DNA-repair initiation complex;PCNA-MutS-alpha-MutL-alpha-DNA complex;MSH2-MLH1-PMS2-PCNA DNA-repair initiation complex | 3 | MSH6, MLH1, PCNA |
MSH2 | MSH6 | Yes | MSH2-MSH6-PMS2-MLH1 complex;MSH2-MSH6-PMS1-MLH1 complex;BASC (Ab 80) complex (BRCA1-associated genome surveillance complex);PCNA-MutS-alpha-DNA initial complex;GCN5-TRRAP histone acetyltransferase complex;MutS-alpha-PK-zeta complex;PCNA-MSH2-MSH6 complex;BASC complex (BRCA1-associated genome surveillance complex);MutS-alpha complex;MSH2/6-BLM-p53-RAD51 complex;PCNA-MutS-alpha-MutL-alpha-DNA complex;MSH2-MSH6 complex | 23 | ATM, KAT2A, TAF10, TAF5L, TP53, TRRAP, RAD50, SUPT3H, MLH1, RFC1, PMS1, BRCA1, NBN, TADA3, MRE11A, PCNA, RFC2, PMS2, PRKCZ, TAF9, BLM, RFC4, RAD51 |
MSH2 | MLH1 | Yes | MSH2-MSH6-PMS2-MLH1 complex;MSH2-MSH6-PMS1-MLH1 complex;BASC (Ab 80) complex (BRCA1-associated genome surveillance complex);MSH2-MLH1-PMS2 DNA-repair initiation complex;MSH2-MLH1-PMS2-PCNA DNA-repair initiation complex;BASC complex (BRCA1-associated genome surveillance complex);PCNA-MutS-alpha-MutL-alpha-DNA complex | 13 | ATM, NBN, PMS2, RFC2, PCNA, MRE11A, PMS1, RFC1, BLM, RAD50, RFC4, BRCA1, MSH6 |
PMS2 | MSH6 | Yes | MSH2-MSH6-PMS2-MLH1 complex;PCNA-MutS-alpha-MutL-alpha-DNA complex | 3 | MSH2, MLH1, PCNA |
PMS2 | MLH1 | Yes | MSH2-MSH6-PMS2-MLH1 complex;MSH2-MLH1-PMS2 DNA-repair initiation complex;EXO1-MLH1-PMS2 complex;MSH2-MLH1-PMS2-PCNA DNA-repair initiation complex;MutL-alpha complex;PCNA-MutS-alpha-MutL-alpha-DNA complex | 4 | MSH6, MSH2, EXO1, PCNA |
MSH6 | MLH1 | Yes | MSH2-MSH6-PMS2-MLH1 complex;MSH2-MSH6-PMS1-MLH1 complex;BASC (Ab 80) complex (BRCA1-associated genome surveillance complex);BASC complex (BRCA1-associated genome surveillance complex);BRCA1-BARD1-BACH1-DNA damage complex I;PCNA-MutS-alpha-MutL-alpha-DNA complex | 16 | ATM, NBN, TOPBP1, RFC2, PCNA, BACH1, MRE11A, BARD1, PMS1, RFC1, BLM, RAD50, PMS2, RFC4, BRCA1, MSH2 |
Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)
Gene1 | Gene2 | Direct Interaction | Number of shared interactors | Shared genes in interaction |
---|---|---|---|---|
MSH2 | MSH6 | Yes | 2 | MSH3, SUPT16H |
PMS2 | MLH1 | Yes | 0 |
Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)
Gene1 | Gene2 | Interaction | Number of common interactors | Common genes in interaction |
---|---|---|---|---|
MSH2 | MSH6 | Yes | 2 | MSH2, MSH6 |
Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)
KEGG term | KEGG term ID | IC | Number of genes with the same term | Genes |
---|---|---|---|---|
Mismatch repair | hsa03430 | 8.07 | 4 | MSH6, MSH2, PMS2, MLH1 |
Colorectal cancer | hsa05210 | 6.52 | 3 | MSH2, MSH6, MLH1 |
Pathways in cancer | hsa05200 | 3.98 | 3 | MSH2, MSH6, MLH1 |
Fanconi anemia pathway | hsa03460 | 7.01 | 2 | PMS2, MLH1 |
Term | New enriched term | IC | P value | Genes |
---|---|---|---|---|
Cancers: Specific types | NEW | 4.1 | 0.008 | MSH2, MSH6, MLH1 |
Genetic Information Processing | NEW | 2.48 | 0.011 | MSH6, MSH2, PMS2, MLH1 |
Colorectal cancer (hsa05210) | - | 6.52 | 0.0 | MSH2, MSH6, MLH1 |
Pathways in cancer (hsa05200) | - | 3.98 | 0.011 | MSH6, MSH2, MLH1 |
Mismatch repair (hsa03430) | - | 8.07 | 0.0 | MSH6, MSH2, PMS2, MLH1 |
Replication and repair | NEW | 5.41 | 0.0 | MSH6, PMS2, MSH2, MLH1 |
Fanconi anemia pathway (hsa03460) | - | 7.01 | 0.0 | MSH6, MSH2, PMS2, MLH1 |
REACTOME term | REACTOME term ID | IC | Number of genes with the same term | Genes |
---|---|---|---|---|
DNA Repair | R-HSA-73894 | 5.8 | 4 | MSH6, MSH2, PMS2, MLH1 |
Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha) | R-HSA-5358565 | 9.18 | 4 | MSH6, MSH2, PMS2, MLH1 |
Mismatch Repair | R-HSA-5358508 | 9.08 | 4 | MSH6, MSH2, PMS2, MLH1 |
Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta) | R-HSA-5358606 | 9.18 | 3 | MSH2, PMS2, MLH1 |
Term | New enriched term | IC | P value | Genes |
---|---|---|---|---|
DNA Repair (R-HSA-73894) | - | 5.8 | 0.0 | MSH6, MSH2, PMS2, MLH1 |
Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha) (R-HSA-5358565) | - | 9.18 | 0.0 | MSH6, MSH2, PMS2, MLH1 |
Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta) (R-HSA-5358606) | - | 9.18 | 0.0 | MSH2, PMS2, MLH1 |
Mismatch Repair (R-HSA-5358508) | - | 9.08 | 0.0 | MSH6, MSH2, PMS2, MLH1 |
Term | New enriched term | IC | P value | Genes |
---|---|---|---|---|
MutLalpha complex (GO:0032389) | - | 7.72 | 0.0 | PMS2, MLH1 |
DNA repair complex (GO:1990391) | - | 6.14 | 0.0 | MSH6, MSH2, PMS2, MLH1 |
nuclear chromosome part (GO:0044454) | - | 3.67 | 0.0 | MSH6, MSH2, PMS2, MLH1 |
mismatch repair complex (GO:0032300) | - | 7.03 | 0.0 | MSH6, MSH2, PMS2, MLH1 |
MutSalpha complex (GO:0032301) | - | 9.11 | 0.0 | MSH2, MSH6 |
nuclear part (GO:0044428) | - | 1.55 | 0.013 | MSH6, PMS2, MSH2, MLH1 |
nuclear chromosome (GO:0000228) | - | 5.55 | 0.011 | MSH2, MSH6 |
chromosomal part (GO:0044427) | - | 3.18 | 0.003 | MSH6, MSH2, PMS2, MLH1 |
chromosome (GO:0005694) | - | 3.78 | 0.017 | MSH2, MSH6 |
male germ cell nucleus (GO:0001673) | NEW | 6.97 | 0.002 | MLH1, MSH6 |
germ cell nucleus (GO:0043073) | NEW | 6.76 | 0.004 | MLH1, MSH6 |