Gene Gene information from NCBI Gene database.
Entrez ID 4144
Gene name Methionine adenosyltransferase 2A
Gene symbol MAT2A
Synonyms (NCBI Gene)
MATA2MATIISAMS2
Chromosome 2
Chromosome location 2p11.2
Summary The protein encoded by this gene catalyzes the production of S-adenosylmethionine (AdoMet) from methionine and ATP. AdoMet is the key methyl donor in cellular processes. [provided by RefSeq, Jun 2011]
miRNA miRNA information provided by mirtarbase database.
1977
miRTarBase ID miRNA Experiments Reference
MIRT005213 hsa-miR-30a-5p pSILAC 18668040
MIRT016409 hsa-miR-193b-3p Proteomics 21512034
MIRT005213 hsa-miR-30a-5p Proteomics;Other 18668040
MIRT029216 hsa-miR-26b-5p Sequencing 20371350
MIRT045753 hsa-miR-125a-5p CLASH 23622248
Transcription factors Transcription factors information provided by TRRUST V2 database.
9
Transcription factor Regulation Reference
JUN Activation 14530285
MYB Activation 11427482
MYB Unknown 11115410
NFKB1 Activation 14530285
RELA Activation 14530285
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
35
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0004478 Function Methionine adenosyltransferase activity IBA
GO:0004478 Function Methionine adenosyltransferase activity IDA 7665609, 10644686, 25075345
GO:0004478 Function Methionine adenosyltransferase activity IEA
GO:0005515 Function Protein binding IPI 10644686, 25075345, 25416956, 28514442, 32296183, 32814053, 33961781
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601468 6904 ENSG00000168906
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P31153
Protein name S-adenosylmethionine synthase isoform type-2 (AdoMet synthase 2) (EC 2.5.1.6) (Methionine adenosyltransferase 2) (MAT 2) (Methionine adenosyltransferase II) (MAT-II)
Protein function Catalyzes the formation of S-adenosylmethionine from methionine and ATP. The reaction comprises two steps that are both catalyzed by the same enzyme: formation of S-adenosylmethionine (AdoMet) and triphosphate, and subsequent hydrolysis of the t
PDB 2P02 , 4KTT , 4KTV , 4NDN , 5A19 , 5A1G , 5A1I , 5UGH , 6FAJ , 6FBN , 6FBO , 6FBP , 6FCB , 6FCD , 6FWB , 6G6R , 6P9V , 6WKB , 7BHR , 7BHS , 7BHT , 7BHU , 7BHV , 7BHW , 7BHX , 7KCC , 7KCE , 7KCF , 7KDA , 7KDB , 7L1A , 7LNH , 7RW5 , 7RW7 , 7RWG , 7RWH , 7RXV , 7RXW , 7RXX , 8AXZ , 8OOG , 8P1T , 8P1V , 8P1W , 8P4H , 8QDY , 8QDZ , 8QE0 , 8QE1 , 8QE2 , 8QE3
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00438 S-AdoMet_synt_N 17 115 S-adenosylmethionine synthetase, N-terminal domain Domain
PF02772 S-AdoMet_synt_M 129 250 S-adenosylmethionine synthetase, central domain Domain
PF02773 S-AdoMet_synt_C 252 389 S-adenosylmethionine synthetase, C-terminal domain Domain
Tissue specificity TISSUE SPECIFICITY: Detected in kidney. {ECO:0000269|PubMed:1426236}.
Sequence
Sequence length 395
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Cysteine and methionine metabolism
One carbon pool by folate
Metabolic pathways
Biosynthesis of amino acids
Biosynthesis of cofactors
  Methylation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
16
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Familial thoracic aortic aneurysm and aortic dissection Pathogenic rs886039820 RCV005090304
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Cardiovascular phenotype Uncertain significance; Likely benign; Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC ISCHEMIC HEART DISEASE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CORONARY ARTERIOSCLEROSIS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE CTD, GWAS catalog
CTD, GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 23588207
★☆☆☆☆
Found in Text Mining only
Adrenal cortical hypofunction Adrenal Cortical Hypofunction BEFREE 29846607
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 22879628 Associate
★☆☆☆☆
Found in Text Mining only
Anaplasia Anaplasia BEFREE 16054984, 31496615
★☆☆☆☆
Found in Text Mining only
Aortic Aneurysm, Abdominal Aortic Aneurysm HPO_DG
★☆☆☆☆
Found in Text Mining only
Aortic Diseases Aortic Diseases BEFREE 25557781
★☆☆☆☆
Found in Text Mining only
Aortic Valve Insufficiency Aortic Valve Insufficiency HPO_DG
★☆☆☆☆
Found in Text Mining only
Arachnodactyly Arachnodactyly HPO_DG
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma Pubtator 14578171 Associate
★☆☆☆☆
Found in Text Mining only
Bicuspid aortic valve Bicuspid aortic valve HPO_DG
★☆☆☆☆
Found in Text Mining only