mutLBSgeneDB |
Gene summary for MAT2A |
Gene summary |
Basic gene Info. | Gene symbol | MAT2A |
Gene name | methionine adenosyltransferase II, alpha | |
Synonyms | MATA2|MATII|SAMS2 | |
Cytomap | UCSC genome browser: 2p11.2 | |
Type of gene | protein-coding | |
RefGenes | NM_005911.5, | |
Description | MAT 2MAT-IIS-adenosylmethionine synthase isoform type-2adoMet synthase 2adoMet synthetase 2methionine adenosyltransferase 2 | |
Modification date | 20141207 | |
dbXrefs | MIM : 601468 | |
HGNC : HGNC | ||
Ensembl : ENSG00000168906 | ||
HPRD : 03275 | ||
Vega : OTTHUMG00000130174 | ||
Protein | UniProt: P31153 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_MAT2A | |
BioGPS: 4144 | ||
Pathway | NCI Pathway Interaction Database: MAT2A | |
KEGG: MAT2A | ||
REACTOME: MAT2A | ||
Pathway Commons: MAT2A | ||
Context | iHOP: MAT2A | |
ligand binding site mutation search in PubMed: MAT2A | ||
UCL Cancer Institute: MAT2A | ||
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:0006556 | S-adenosylmethionine biosynthetic process | 10644686 |
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Ligand binding site mutations for MAT2A |
Cancer type specific mutLBS sorted by frequency |
LBS | AAchange of nsSNV | Cancer type | # samples | D258 | Q256H | BLCA | 1 | D179 | R177H | COAD | 1 | D179 | R177C | OV | 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 MAT2A |
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 | D258 | Q256H | 0.21051895 | D179 | R177H | -1.2355592 | D179 | R177C | -0.92486087 |
(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 MAT2A from PDB |
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Differential gene expression and gene-gene network for MAT2A |
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 MAT2A |
Gene level disease information (DisGeNet) |
Disease ID | Disease name | # PubMed | Association type |
umls:C0017661 | Glomerulonephritis, IGA | 1 | Biomarker |
Mutation level pathogenic information (ClinVar annotation) |
Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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Pharmacological information for MAT2A |
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. |
Gene-centered drug-gene interaction network |
Drug information targeting mutLBSgene (Approved drugs only) |
Drug status | DrugBank ID | Name | Type | Drug structure |
Approved|nutraceutical | DB00118 | S-Adenosylmethionine | Small molecule |
Gene-centered ligand-gene interaction network |
Ligands binding to mutated ligand binding site of MAT2A go to BioLip |
Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS |
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Conservation information for LBS of MAT2A |
Multiple alignments for P31153 in multiple species |
LBS | AA sequence | # species | Species | D179 | PWLRPDSKTQV | 3 | Homo sapiens, Rattus norvegicus, Mus musculus | D179 | EWVRPDSKTQV | 3 | Caenorhabditis elegans, Caenorhabditis elegans, Caenorhabditis elegans | D179 | PWLRPDTKTQV | 2 | Schizosaccharomyces pombe (strain 972 / ATCC 24843), Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | D179 | PWLRPDGKTQV | 1 | Arabidopsis thaliana | D179 | AWLRPDTKTQV | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | D179 | PWVRPDSKSQV | 1 | Caenorhabditis elegans | D179 | WWARPDSKTQV | 1 | Drosophila melanogaster | D258 | GGPQGDAGLTG | 6 | Homo sapiens, Schizosaccharomyces pombe (strain 972 / ATCC 24843), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Rattus norvegicus, Mus musculus | D258 | GGPMGDAGLTG | 4 | Caenorhabditis elegans, Caenorhabditis elegans, Caenorhabditis elegans, Drosophila melanogaster | D258 | GGPHGDAGLTG | 1 | Arabidopsis thaliana | D258 | GGPMGDAGVTG | 1 | Caenorhabditis elegans | F250 | QPSGRFVIGGP | 5 | Homo sapiens, Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Rattus norvegicus, Mus musculus | F250 | NPCGSFIIGGP | 2 | Caenorhabditis elegans, Caenorhabditis elegans | F250 | NPSGRFVIGGP | 1 | Arabidopsis thaliana | F250 | QPSGRFVVGGP | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | F250 | NPCGTFIVGGP | 1 | Caenorhabditis elegans | F250 | NPCGSFVVGGP | 1 | Caenorhabditis elegans | F250 | NPCGLFVIGGP | 1 | Drosophila melanogaster | H29 | SVGEGHPDKIC | 6 | Homo sapiens, Schizosaccharomyces pombe (strain 972 / ATCC 24843), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Rattus norvegicus, Mus musculus | H29 | SVSEGHPDKMC | 4 | Caenorhabditis elegans, Caenorhabditis elegans, Caenorhabditis elegans, Caenorhabditis elegans | H29 | SVNEGHPDKLC | 1 | Arabidopsis thaliana | H29 | SVGEGHPDKMC | 1 | Drosophila melanogaster | K181 | LRPDSKTQVTV | 3 | Homo sapiens, Rattus norvegicus, Mus musculus | K181 | VRPDSKTQVTI | 3 | Caenorhabditis elegans, Caenorhabditis elegans, Caenorhabditis elegans | K181 | LRPDTKTQVTV | 2 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | K181 | LRPDGKTQVTV | 1 | Arabidopsis thaliana | K181 | LRPDTKTQVTI | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | K181 | VRPDSKSQVTI | 1 | Caenorhabditis elegans | K181 | ARPDSKTQVTC | 1 | Drosophila melanogaster | P30 | VGEGHPDKICD | 6 | Homo sapiens, Schizosaccharomyces pombe (strain 972 / ATCC 24843), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Rattus norvegicus, Mus musculus | P30 | VSEGHPDKMCD | 4 | Caenorhabditis elegans, Caenorhabditis elegans, Caenorhabditis elegans, Caenorhabditis elegans | P30 | VNEGHPDKLCD | 1 | Arabidopsis thaliana | P30 | VGEGHPDKMCD | 1 | Drosophila melanogaster | R249 | LQPSGRFVIGG | 3 | Homo sapiens, Rattus norvegicus, Mus musculus | R249 | IQPSGRFVIGG | 2 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | R249 | LNPCGSFIIGG | 2 | Caenorhabditis elegans, Caenorhabditis elegans | R249 | LNPSGRFVIGG | 1 | Arabidopsis thaliana | R249 | IQPSGRFVVGG | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | R249 | INPCGTFIVGG | 1 | Caenorhabditis elegans | R249 | LNPCGSFVVGG | 1 | Caenorhabditis elegans | R249 | INPCGLFVIGG | 1 | Drosophila melanogaster | S247 | YHLQPSGRFVI | 3 | Homo sapiens, Rattus norvegicus, Mus musculus | S247 | YFIQPSGRFVI | 2 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | S247 | YHLNPCGSFII | 2 | Caenorhabditis elegans, Caenorhabditis elegans | S247 | FHLNPSGRFVI | 1 | Arabidopsis thaliana | S247 | YHIQPSGRFVV | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | S247 | FHINPCGTFIV | 1 | Caenorhabditis elegans | S247 | YHLNPCGSFVV | 1 | Caenorhabditis elegans | S247 | VHINPCGLFVI | 1 | Drosophila melanogaster |
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