MLH3
Summary: This gene is a member of the MutL-homolog (MLH) family of DNA mismatch repair (MMR) genes. MLH genes are implicated in maintaining genomic integrity during DNA replication and after meiotic recombination. The protein encoded by this gene functions as a heterodimer with other family members. Somatic mutations in this gene frequently occur in tumors exhibiting microsatellite instability, and germline mutations have been linked to hereditary nonpolyposis colorectal cancer type 7 (HNPCC7). Several alternatively spliced transcript variants have been identified, but the full-length nature of only two transcript variants has been determined. [provided by RefSeq, Jul 2008].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
NamemutL homolog 3 OMIM IDMIM:604395 Ensembl IDEnsembl:ENSG00000119684 HGNC IDHGNC:HGNC:7128 PHARMGKB IDPA30845 Map Location14q24.3 | |||||
GO terms in MLH3
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | IEA | GO:0001673 | male germ cell nucleus |
| CC | IDA | GO:0005634 | nucleus |
| CC | IBA | GO:0032300 | mismatch repair complex |
| CC | IBA | GO:0032389 | MutLalpha complex |
| BP | IBA | GO:0006298 | mismatch repair |
| BP | NAS | GO:0006298 | mismatch repair |
Gene expression in normal tissue: MLH3
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in MLH3
Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-1474165 | Reproduction |
| reactome | R-HSA-1500620 | Meiosis |
| reactome | R-HSA-1640170 | Cell Cycle |
| reactome | R-HSA-912446 | Meiotic recombination |
| kegg | hsa03430 | Mismatch repair - Homo sapiens (human) |
Gene-Drug: Aster Plot
Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD190 | Nilotinib | 1 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in MLH3
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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