mutLBSgeneDB |
Gene summary for KMT2A |
Gene summary |
Basic gene Info. | Gene symbol | KMT2A |
Gene name | lysine (K)-specific methyltransferase 2A | |
Synonyms | ALL-1|CXXC7|HRX|HTRX1|MLL|MLL/GAS7|MLL1|MLL1A|TET1-MLL|TRX1|WDSTS | |
Cytomap | UCSC genome browser: 11q23 | |
Type of gene | protein-coding | |
RefGenes | NM_001197104.1, NM_005933.3,NM_024891.2, | |
Description | CDK6/MLL fusion proteinCXXC-type zinc finger protein 7MLL-AF4 der(11) fusion proteinMLL/GAS7 fusion proteinMLL/GMPS fusion proteinhistone-lysine N-methyltransferase 2Alysine N-methyltransferase 2Amixed lineage leukemia 1myeloid/lymphoid or mixed-l | |
Modification date | 20141207 | |
dbXrefs | MIM : 159555 | |
HGNC : HGNC | ||
Ensembl : ENSG00000118058 | ||
HPRD : 01162 | ||
Vega : OTTHUMG00000166337 | ||
Protein | UniProt: Q03164 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_KMT2A | |
BioGPS: 4297 | ||
Pathway | NCI Pathway Interaction Database: KMT2A | |
KEGG: KMT2A | ||
REACTOME: KMT2A | ||
Pathway Commons: KMT2A | ||
Context | iHOP: KMT2A | |
ligand binding site mutation search in PubMed: KMT2A | ||
UCL Cancer Institute: KMT2A | ||
Assigned class in mutLBSgeneDB | B: This gene belongs to targetable_mutLBSgenes. |
Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
GO ID | GO Term | PubMed ID | GO:0006461 | protein complex assembly | 15199122 | GO:0045944 | positive regulation of transcription from RNA polymerase II promoter | 20861184 | GO:0051568 | histone H3-K4 methylation | 19556245 | GO:0080182 | histone H3-K4 trimethylation | 20861184 |
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Ligand binding site mutations for KMT2A |
Lollipop-style diagram of mutations at LBS in amino-acid sequence. We represented ligand binding site mutations only. (You can see big image via clicking.) : non-synonymous mutation on LBS, Circle size denotes number of samples. |
Cancer type specific mutLBS sorted by frequency |
LBS | AAchange of nsSNV | Cancer type | # samples | R3903 | R3903H | COAD | 2 | C1167 | E1165K | BLCA | 1 | R1154 | R1154W | COAD | 1 | M1585 | M1585I | HNSC | 1 | V1617 | A1618S | LUAD | 1 | H1596 | H1596Y | SKCM | 1 | C3964 | R3965W | STAD | 1 | W1594 | R1593H | STAD | 1 | D1573 | K1574R | THCA | 1 | C1173 | C1173R | UCEC | 1 | S1152 | S1152L | UCEC | 1 |
cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma. |
Clinical information for KMT2A from My Cancer Genome. |
Lysine (K)-specific methyltransferase 2A (KMT2A; also known as MLL) is a gene that encodes a protein that functions as a transcriptional coactivator. The protein is involved in cellular processes including the regulation of gene expressionand hematopoiesis. Fusions, rearrangements, missense mutations, nonsense mutations, silent mutations, frameshift insertions and deletions, and in-frame deletions are observed in cancers such as intestinal cancer, skin cancer, and stomach cancer.Related Pathways: Chromatin remodeling/DNA methylation. Modified: December 4, 2015 |
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Protein structure related information for KMT2A |
Relative protein structure stability change (ΔΔE) using Mupro 1.1 Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
: nsSNV at non-LBS: nsSNV at LBS |
nsSNVs sorted by the relative stability change of protein structure by each mutation Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
LBS | AAchange of nsSNV | Relative stability change | S1152 | S1152L | 0.11743409 | W1594 | R1593H | -1.4070359 | V1617 | A1618S | -1.3624322 | C1167 | E1165K | -1.2403517 | R3903 | R3903H | -1.0966848 | C3964 | R3965W | -1.0667599 | M1585 | M1585I | -1.04028 | R1154 | R1154W | -0.87603008 | D1573 | K1574R | -0.7317234 | C1173 | C1173R | -0.62562327 | H1596 | H1596Y | -0.40761975 |
(MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132) |
Structure image for KMT2A from PDB |
PDB ID | PDB title | PDB structure | 2J2S | SOLUTION STRUCTURE OF THE NONMETHYL-CPG-BINDING CXXC DOMAIN OF THE LEUKAEMIA-ASSOCIATED MLL HISTONE METHYLTRANSFERASE |
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Differential gene expression and gene-gene network for KMT2A |
Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types |
Differential co-expressed gene network based on protein-protein interaction data (CePIN) |
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Phenotype information for KMT2A |
Gene level disease information (DisGeNet) |
Disease ID | Disease name | # PubMed | Association type |
umls:C0023467 | Leukemia, Myeloid, Acute | 339 | Biomarker, GeneticVariation |
umls:C0023418 | Leukemia | 327 | AlteredExpression, Biomarker, GeneticVariation |
umls:C0023470 | Leukemia, Myeloid | 37 | Biomarker, GeneticVariation |
umls:C0023465 | Leukemia, Monocytic, Acute | 30 | Biomarker, GeneticVariation |
umls:C0023448 | Leukemia, Lymphoid | 14 | Biomarker, GeneticVariation |
umls:C0023479 | Leukemia, Myelomonocytic, Acute | 11 | Biomarker, GeneticVariation |
umls:C2239176 | Carcinoma, Hepatocellular | 4 | Biomarker |
umls:C1854630 | Growth Deficiency and Mental Retardation with Facial Dysmorphism | 2 | Biomarker, GeneticVariation |
umls:C0001418 | Adenocarcinoma | 1 | Biomarker |
umls:C0007138 | Carcinoma, Transitional Cell | 1 | Biomarker |
umls:C0149925 | Small Cell Lung Carcinoma | 1 | Biomarker |
umls:C0038356 | Stomach Neoplasms | 1 | Biomarker |
umls:C0005695 | Urinary Bladder Neoplasms | 1 | Biomarker |
Mutation level pathogenic information (ClinVar annotation) |
Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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Pharmacological information for KMT2A |
Gene expression profile of anticancer drug treated cell-lines (CCLE) Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient. |
Drug information targeting mutLBSgene (Approved drugs only) |
Drug status | DrugBank ID | Name | Type | Drug structure |
Gene-centered ligand-gene interaction network |
Ligands binding to mutated ligand binding site of KMT2A go to BioLip |
Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | ZN | ZINC(2+) | 2j2s | A | C1167 C1173 | ZN | ZINC(2+) | 2jyi | A | C1167 C1173 | ZN | ZINC(2+) | 2kkf | A | C1167 C1173 | ZN | ZINC(2+) | 4nw3 | A | C1167 C1173 | ZN | ZINC(2+) | 2w5y | A | C3964 | ZN | ZINC(2+) | 2w5z | A | C3964 | ZN | ZINC(2+) | 3lqh | A | H1596 | ZN | ZINC(2+) | 3lqi | A | H1596 | ZN | ZINC(2+) | 3lqi | B | H1596 | ZN | ZINC(2+) | 3lqi | C | H1596 | ZN | ZINC(2+) | 3lqj | A | H1596 | ZN | ZINC(2+) | 3lqj | B | H1596 | III | Peptide ligand (ALA,ARG,THR,LYS,GLN,THR) | 3lqi | A | M1585 W1594 V1617 | III | Peptide ligand (ALA,ARG,THR,LYS,GLN,THR,ALA) | 3lqi | B | M1585 W1594 V1617 | III | Peptide ligand (ALA,ARG,THR,LYS,GLN,THR,ALA,ARG,LYS) | 3lqi | C | M1585 W1594 V1617 | III | Peptide ligand (ALA,ARG,THR,LYS,GLN,THR) | 3lqj | A | M1585 W1594 V1617 | III | Peptide ligand (ALA,ARG,THR,LYS,GLN,THR) | 3lqj | B | M1585 W1594 V1617 | SAH | S-ADENOSYL-L-HOMOCYSTEINE | 2w5y | A | R3903 | III | Peptide ligand (ARG,THR,LYS,GLN,THR,ALA,ARG,TYR) | 2w5z | A | R3903 | SAH | S-ADENOSYL-L-HOMOCYSTEINE | 2w5z | A | R3903 | NUC | Nucleic Acids | 2kkf | A | S1152 R1154 | NUC | Nucleic Acids | 4nw3 | A | S1152 R1154 |
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Conservation information for LBS of KMT2A |
Multiple alignments for Q03164 in multiple species |
LBS | AA sequence | # species | Species |
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