|
mutLBSgeneDB |
| |
| |
| |
| |
| |
| |
|
| Gene summary for KMT2D |
 Gene summary |
| Basic gene Info. | Gene symbol | KMT2D |
| Gene name | lysine (K)-specific methyltransferase 2D | |
| Synonyms | AAD10|ALR|CAGL114|KABUK1|KMS|MLL2|MLL4|TNRC21 | |
| Cytomap | UCSC genome browser: 12q13.12 | |
| Type of gene | protein-coding | |
| RefGenes | NM_003482.3, | |
| Description | ALL1-related proteinKabuki make-up syndromeKabuki mental retardation syndromehistone-lysine N-methyltransferase 2Dhistone-lysine N-methyltransferase MLL2lysine N-methyltransferase 2Dmyeloid/lymphoid or mixed-lineage leukemia 2trinucleotide repeat c | |
| Modification date | 20141219 | |
| dbXrefs | MIM : 602113 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000167548 | ||
| HPRD : 03664 | ||
| Vega : OTTHUMG00000166524 | ||
| Protein | UniProt: O14686 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_KMT2D | |
| BioGPS: 8085 | ||
| Pathway | NCI Pathway Interaction Database: KMT2D | |
| KEGG: KMT2D | ||
| REACTOME: KMT2D | ||
| Pathway Commons: KMT2D | ||
| Context | iHOP: KMT2D | |
| ligand binding site mutation search in PubMed: KMT2D | ||
| UCL Cancer Institute: KMT2D | ||
| Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0043627 | response to estrogen | 16603732 |
| Top |
| Ligand binding site mutations for KMT2D |
| 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 | C5525 | C5525S | COAD | 1 | C5477 | C5477G | STAD | 1 | Y5512 | D5511A | 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. |
| Top |
| Protein structure related information for KMT2D |
| 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 | C5525 | C5525S | -1.404374 | Y5512 | D5511A | -1.3919313 | C5477 | C5477G | -1.0716764 |
| (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 KMT2D from PDB |
| Top |
| Differential gene expression and gene-gene network for KMT2D |
| 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) |
| Top |
| Top |
| Phenotype information for KMT2D |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0796004 | Kabuki syndrome | 22 | Biomarker, GeneticVariation |
| umls:C0079744 | Lymphoma, Large B-Cell, Diffuse | 2 | Biomarker |
| umls:C0024301 | Lymphoma, Follicular | 2 | Biomarker |
| umls:C0279626 | Esophageal Squamous Cell Carcinoma | 1 | Biomarker |
| umls:C0021364 | Infertility, Male | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
| Top |
| Pharmacological information for KMT2D |
| 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 KMT2D go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | ZN | ZINC(2+) | 4z4p | A | C5477 C5525 | SAH | S-ADENOSYL-L-HOMOCYSTEINE | 4z4p | A | Y5512 C5525 |
| Top |
| Conservation information for LBS of KMT2D |
| Multiple alignments for O14686 in multiple species |
| LBS | AA sequence | # species | Species |
 |
Copyright © 2016-Present - The University of Texas Health Science Center at Houston |