Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 4144
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol MAT2A   Gene   UCSC   Ensembl
Aliases MATA2, MATII, SAMS2
Gene name methionine adenosyltransferase 2A
Alternate names S-adenosylmethionine synthase isoform type-2, MAT 2, MAT-II, adoMet synthase 2, adoMet synthetase 2, methionine adenosyltransferase 2, methionine adenosyltransferase II, alpha, testicular tissue protein Li 121,
Gene location 2p11.2 (85538977: 85545279)     Exons: 9     NC_000002.12
Gene summary(Entrez) 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]
OMIM 601468

Protein Summary

Protein general information P31153  

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)

Length: 395  Mass: 43,661

Tissue specificity: Detected in kidney. {ECO

Sequence MNGQLNGFHEAFIEEGTFLFTSESVGEGHPDKICDQISDAVLDAHLQQDPDAKVACETVAKTGMILLAGEITSRA
AVDYQKVVREAVKHIGYDDSSKGFDYKTCNVLVALEQQSPDIAQGVHLDRNEEDIGAGDQGLMFGYATDETEECM
PLTIVLAHKLNAKLAELRRNGTLPWLRPDSKTQVTVQYMQDRGAVLPIRVHTIVISVQHDEEVCLDEMRDALKEK
VIKAVVPAKYLDEDTIYHLQPSGRFVIGGPQGDAGLTGRKIIVDTYGGWGAHGGGAFSGKDYTKVDRSAAYAARW
VAKSLVKGGLCRRVLVQVSYAIGVSHPLSISIFHYGTSQKSERELLEIVKKNFDLRPGVIVRDLDLKKPIYQRTA
AYGHFGRDSFPWEVPKKLKY
Structural information
Interpro:  IPR022631 IPR022630 IPR022629 IPR022628 IPR002133 IPR022636
Prosite:   PS00376 PS00377

Pfam:  
PF02773 PF02772 PF00438

PDB:  
2P02 4KTT 4KTV 4NDN 5A19 5A1G 5A1I
PDBsum:   2P02 4KTT 4KTV 4NDN 5A19 5A1G 5A1I
STRING:   ENSP00000303147;
Other Databases GeneCards:  MAT2A;  Malacards:  MAT2A

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0004478 methionine adenosyltransf
erase activity
IDA molecular_function
GO:0004478 methionine adenosyltransf
erase activity
IDA molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005524 ATP binding
IEA molecular_function
GO:0005829 cytosol
IBA cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0006556 S-adenosylmethionine bios
ynthetic process
IEA biological_process
GO:0006556 S-adenosylmethionine bios
ynthetic process
IDA biological_process
GO:0006730 one-carbon metabolic proc
ess
IEA biological_process
GO:0032259 methylation
TAS biological_process
GO:0046872 metal ion binding
IEA molecular_function
GO:0048269 methionine adenosyltransf
erase complex
IDA cellular_component
GO:0000166 nucleotide binding
IEA molecular_function
GO:0004478 methionine adenosyltransf
erase activity
IEA molecular_function
GO:0004478 methionine adenosyltransf
erase activity
IEA molecular_function
GO:0004478 methionine adenosyltransf
erase activity
IEA molecular_function
GO:0004478 methionine adenosyltransf
erase activity
IDA molecular_function
GO:0004478 methionine adenosyltransf
erase activity
IDA molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005524 ATP binding
IEA molecular_function
GO:0005524 ATP binding
IEA molecular_function
GO:0005829 cytosol
IBA cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0006556 S-adenosylmethionine bios
ynthetic process
IEA biological_process
GO:0006556 S-adenosylmethionine bios
ynthetic process
IEA biological_process
GO:0006556 S-adenosylmethionine bios
ynthetic process
IEA biological_process
GO:0006556 S-adenosylmethionine bios
ynthetic process
IDA biological_process
GO:0006730 one-carbon metabolic proc
ess
IEA biological_process
GO:0016740 transferase activity
IEA molecular_function
GO:0032259 methylation
TAS biological_process
GO:0046872 metal ion binding
IEA molecular_function
GO:0048269 methionine adenosyltransf
erase complex
IDA cellular_component
GO:0004478 methionine adenosyltransf
erase activity
IDA molecular_function
GO:0004478 methionine adenosyltransf
erase activity
IDA molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005829 cytosol
IBA cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0006556 S-adenosylmethionine bios
ynthetic process
IDA biological_process
GO:0032259 methylation
TAS biological_process
GO:0048269 methionine adenosyltransf
erase complex
IDA cellular_component

KEGG pathways

hsa01100  Metabolic pathways
hsa01230  Biosynthesis of amino acids
hsa00270  Cysteine and methionine metabolism

Diseases

Associated diseases References
Cancer PMID: 18423013
Cleft lip PMID: 19048631
Endometriosis PMID: 22276910
Endometriosis INFBASE22276910
Spinal dysraphism PMID: 19161160

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
22276910 Endometrio
sis

100 (50 endomet
riosis, 50 cont
rols)
COX-2
BRAF
NRAS
CFL1
MAT2A
SEPT9
ATAD3A
CADM2
NAA15 and CCDC21
Show abstract