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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
275
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Familial thoracic aortic aneurysm and aortic dissection Pathogenic rs886039820 RCV005090304
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cardiovascular phenotype Uncertain significance; Likely benign; Benign rs578215416, rs141849127, rs974451464, rs377763337, rs151053752, rs370638648, rs41290031, rs1236378217, rs367778290, rs1387934407, rs1170686756, rs757299832, rs777357586, rs747959376, rs771488542
View all (77 more)
RCV002377447
RCV004995715
RCV004037773
RCV002449115
RCV004995845
RCV005672724
RCV002361044
RCV006352575
RCV002370478
RCV002382277
RCV004641923
RCV002382323
RCV006357296
RCV002346464
RCV002325963
RCV002333792
RCV002457160
RCV002332376
RCV002324862
RCV002457097
RCV002330007
RCV002330476
RCV002338570
RCV002338593
RCV002330403
RCV002340525
RCV002332402
RCV002349423
RCV002342327
RCV002337924
RCV002353351
RCV002337648
RCV002342923
RCV002353113
RCV002366843
RCV002362345
RCV002416886
RCV002427897
RCV002382779
RCV002376132
RCV002398387
RCV002401567
RCV002376821
RCV002410410
RCV002414688
RCV002407867
RCV002380805
RCV002392457
RCV002425998
RCV004067170
RCV004642106
RCV004146562
RCV003168228
RCV003305478
RCV003301345
RCV003301346
RCV003380166
RCV003380167
RCV003380168
RCV003380169
RCV003380171
RCV003380172
RCV004369171
RCV005675239
RCV004371660
RCV004992788
RCV005662768
RCV004523817
RCV004523818
RCV004523819
RCV004523820
RCV004523821
RCV004523822
RCV002323654
RCV002429438
RCV002418266
RCV002328994
RCV002436304
RCV002350394
RCV002377190
RCV002341481
RCV002420538
RCV002448802
RCV002330982
RCV002368044
RCV002368043
RCV002404655
RCV005367451
RCV006342396
RCV002386119
RCV003166387
RCV002372376
RCV002416078
RCV002379609
RCV004994323
Familial cancer of breast Benign rs2043675 RCV005904119
Isolated thoracic aortic aneurysm Uncertain significance rs1691484259, rs748275992 RCV001374772
RCV001374773
Malignant lymphoma, large B-cell, diffuse Benign rs2289972, rs2043675 RCV005904118
RCV005904120
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 22879628
Aphasia Broca Associate 36818472
Astrocytoma Associate 14578171
Breast Neoplasms Associate 26418898, 34065390, 37240447
Carcinogenesis Associate 21247894
Carcinoma Hepatocellular Associate 14530285, 18045590, 21247894, 23588207, 24098708, 37240447
Carcinoma Renal Cell Associate 24636201
Cholangiocarcinoma Associate 35841118
Colorectal Neoplasms Associate 21406062, 23588207, 24636201, 26416353, 27213918
COVID 19 Associate 36818472