mutLBSgeneDB |
Gene summary for L3MBTL2 |
Gene summary |
Basic gene Info. | Gene symbol | L3MBTL2 |
Gene name | l(3)mbt-like 2 (Drosophila) | |
Synonyms | H-l(3)mbt-l|L3MBT | |
Cytomap | UCSC genome browser: 22q13.31-q13.33 | |
Type of gene | protein-coding | |
RefGenes | NM_001003689.1, NM_031488.4, | |
Description | H-l(3)mbt-like protein 2L(3)mbt-like protein 2lethal(3)malignant brain tumor-like protein 2 | |
Modification date | 20141207 | |
dbXrefs | MIM : 611865 | |
HGNC : HGNC | ||
Ensembl : ENSG00000100395 | ||
HPRD : 13954 | ||
Vega : OTTHUMG00000150942 | ||
Protein | UniProt: Q969R5 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_L3MBTL2 | |
BioGPS: 83746 | ||
Pathway | NCI Pathway Interaction Database: L3MBTL2 | |
KEGG: L3MBTL2 | ||
REACTOME: L3MBTL2 | ||
Pathway Commons: L3MBTL2 | ||
Context | iHOP: L3MBTL2 | |
ligand binding site mutation search in PubMed: L3MBTL2 | ||
UCL Cancer Institute: L3MBTL2 | ||
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 |
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Ligand binding site mutations for L3MBTL2 |
Cancer type specific mutLBS sorted by frequency |
LBS | AAchange of nsSNV | Cancer type | # samples | C114 | S115A | OV | 1 | E14 | M16K | 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. |
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Protein structure related information for L3MBTL2 |
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 | C114 | S115A | -1.0715372 | E14 | M16K | -0.51174901 |
(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 L3MBTL2 from PDB |
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Differential gene expression and gene-gene network for L3MBTL2 |
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 L3MBTL2 |
Gene level disease information (DisGeNet) |
Disease ID | Disease name | # PubMed | Association type |
umls:C0025149 | Medulloblastoma | 1 | Biomarker |
Mutation level pathogenic information (ClinVar annotation) |
Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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Pharmacological information for L3MBTL2 |
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 L3MBTL2 go to BioLip |
Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | ZN | ZINC(2+) | 2w0t | A | C114 |
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Conservation information for LBS of L3MBTL2 |
Multiple alignments for Q969R5 in multiple species |
LBS | AA sequence | # species | Species | C110 | KTKRFCSVSCS | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | C110 | HGLSSTSGSNG | 1 | Caenorhabditis elegans | C110 | EERLFYRRRNP | 1 | Caenorhabditis elegans | C114 | FCSVSCSRSYS | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | C114 | STSGSNGLEYI | 1 | Caenorhabditis elegans | C114 | FYRRRNPVE-- | 1 | Caenorhabditis elegans | C90 | SEPAVCEMCGI | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | C90 | ----------- | 2 | Caenorhabditis elegans, Caenorhabditis elegans | C93 | AVCEMCGIVGT | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | C93 | ----------- | 2 | Caenorhabditis elegans, Caenorhabditis elegans | D546 | KLEAVDLMEPR | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | D546 | RLEAADMCENQ | 1 | Caenorhabditis elegans | D546 | VLEAVGQNETY | 1 | Caenorhabditis elegans | E14 | ETPSSEPM-EE | 2 | Homo sapiens, Rattus norvegicus | E14 | EAPSSEPM-EE | 1 | Mus musculus | E14 | ETPSSEPMEEE | 1 | Bos taurus | E14 | FALFYNTVSST | 1 | Caenorhabditis elegans | E14 | ----------- | 1 | Caenorhabditis elegans | F570 | LLSIHFDGWDS | 2 | Homo sapiens, Bos taurus | F570 | LLSIHFDGWDN | 2 | Mus musculus, Rattus norvegicus | F570 | LINVNFDGWDE | 1 | Caenorhabditis elegans | F570 | TVLIEFQGWDS | 1 | Caenorhabditis elegans | W573 | IHFDGWDSEYD | 2 | Homo sapiens, Bos taurus | W573 | IHFDGWDNEYD | 2 | Mus musculus, Rattus norvegicus | W573 | VNFDGWDEEFD | 1 | Caenorhabditis elegans | W573 | IEFQGWDSEFS | 1 | Caenorhabditis elegans |
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