Endometriosis Knowledgebase

Search Result

Gene id

1788

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

DNMT3A Gene UCSC Ensembl

Aliases

DNMT3A2, M.HsaIIIA, TBRS

Gene name

DNA methyltransferase 3 alpha

Alternate names

DNA (cytosine-5)-methyltransferase 3A, DNA (cytosine-5-)-methyltransferase 3 alpha, DNA MTase HsaIIIA, DNA cytosine methyltransferase 3A2,

Gene location

2p23.3 (25342589: 25232960) Exons: 34 NC_000002.12

Gene summary(Entrez)

CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a DNA methyltransferase that is thought to function in de novo methylation, rather than maintenance methylation. The protein localizes to the cytoplasm and nucleus and its expression is developmentally regulated. [provided by RefSeq, Mar 2016]

OMIM

602769

Protein Summary

Protein general information

Q9Y6K1

Name: DNA (cytosine 5) methyltransferase 3A (Dnmt3a) (EC 2.1.1.37) (DNA methyltransferase HsaIIIA) (DNA MTase HsaIIIA) (M.HsaIIIA)

Length: 912 Mass: 101,858

Tissue specificity: Highly expressed in fetal tissues, skeletal muscle, heart, peripheral blood mononuclear cells, kidney, and at lower levels in placenta, brain, liver, colon, spleen, small intestine and lung. {ECO

Sequence

MPAMPSSGPGDTSSSAAEREEDRKDGEEQEEPRGKEERQEPSTTARKVGRPGRKRKHPPVESGDTPKDPAVISKS
PSMAQDSGASELLPNGDLEKRSEPQPEEGSPAGGQKGGAPAEGEGAAETLPEASRAVENGCCTPKEGRGAPAEAG
KEQKETNIESMKMEGSRGRLRGGLGWESSLRQRPMPRLTFQAGDPYYISKRKRDEWLARWKREAEKKAKVIAGMN
AVEENQGPGESQKVEEASPPAVQQPTDPASPTVATTPEPVGSDAGDKNATKAGDDEPEYEDGRGFGIGELVWGKL
RGFSWWPGRIVSWWMTGRSRAAEGTRWVMWFGDGKFSVVCVEKLMPLSSFCSAFHQATYNKQPMYRKAIYEVLQV
ASSRAGKLFPVCHDSDESDTAKAVEVQNKPMIEWALGGFQPSGPKGLEPPEEEKNPYKEVYTDMWVEPEAAAYAP
PPPAKKPRKSTAEKPKVKEIIDERTRERLVYEVRQKCRNIEDICISCGSLNVTLEHPLFVGGMCQNCKNCFLECA
YQYDDDGYQSYCTICCGGREVLMCGNNNCCRCFCVECVDLLVGPGAAQAAIKEDPWNCYMCGHKGTYGLLRRRED
WPSRLQMFFANNHDQEFDPPKVYPPVPAEKRKPIRVLSLFDGIATGLLVLKDLGIQVDRYIASEVCEDSITVGMV
RHQGKIMYVGDVRSVTQKHIQEWGPFDLVIGGSPCNDLSIVNPARKGLYEGTGRLFFEFYRLLHDARPKEGDDRP
FFWLFENVVAMGVSDKRDISRFLESNPVMIDAKEVSAAHRARYFWGNLPGMNRPLASTVNDKLELQECLEHGRIA
KFSKVRTITTRSNSIKQGKDQHFPVFMNEKEDILWCTEMERVFGFPVHYTDVSNMSRLARQRLLGRSWSVPVIRH
LFAPLKEYFACV

Structural information

Protein Domains	PWWP. (292-350) ADD. (482-614) SAM-dependent (634-912)
Interpro:	IPR025766 IPR018117 IPR001525 IPR030487 IPR000313 IPR029063
Prosite:	PS51533 PS00094 PS50812 PS51679
Pfam:	PF00145 PF00855
PDB:	2QRV 3A1A 3A1B 3LLR 3SVM 4QBQ 4QBR 4QBS 4U7P 4U7T
PDBsum:	2QRV 3A1A 3A1B 3LLR 3SVM 4QBQ 4QBR 4QBS 4U7P 4U7T
DIP:	38004
STRING:	ENSP00000264709;

Other Databases

GeneCards: DNMT3A; Malacards: DNMT3A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	IEA	biological_process
GO:0000278	mitotic cell cycle	IEA	biological_process
GO:0000775	chromosome, centromeric r egion	IEA	cellular_component
GO:0000791	euchromatin	IDA	cellular_component
GO:0001741	XY body	IEA	cellular_component
GO:0003677	DNA binding	IDA	molecular_function
GO:0003682	chromatin binding	IEA	molecular_function
GO:0003886	DNA (cytosine-5-)-methylt ransferase activity	IDA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005634	nucleus	IDA	cellular_component
GO:0005654	nucleoplasm	IDA	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005720	nuclear heterochromatin	IEA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0006306	DNA methylation	IDA	biological_process
GO:0006346	methylation-dependent chr omatin silencing	IEA	biological_process
GO:0006349	regulation of gene expres sion by genetic imprintin g	TAS	biological_process
GO:0007283	spermatogenesis	IEA	biological_process
GO:0007568	aging	IEA	biological_process
GO:0009008	DNA-methyltransferase act ivity	TAS	molecular_function
GO:0009636	response to toxic substan ce	IEA	biological_process
GO:0010212	response to ionizing radi ation	IEA	biological_process
GO:0010288	response to lead ion	IEA	biological_process
GO:0010424	DNA methylation on cytosi ne within a CG sequence	IEA	biological_process
GO:0010942	positive regulation of ce ll death	IEA	biological_process
GO:0016363	nuclear matrix	IDA	cellular_component
GO:0030182	neuron differentiation	IEA	biological_process
GO:0032355	response to estradiol	IEA	biological_process
GO:0033189	response to vitamin A	IEA	biological_process
GO:0036276	response to antidepressan t	IEA	biological_process
GO:0042220	response to cocaine	IEA	biological_process
GO:0042802	identical protein binding	IPI	molecular_function
GO:0043045	DNA methylation involved in embryo development	IEA	biological_process
GO:0043046	DNA methylation involved in gamete generation	IEA	biological_process
GO:0044027	hypermethylation of CpG i sland	IEA	biological_process
GO:0045322	unmethylated CpG binding	IEA	molecular_function
GO:0045814	negative regulation of ge ne expression, epigenetic	TAS	biological_process
GO:0046498	S-adenosylhomocysteine me tabolic process	IEA	biological_process
GO:0046499	S-adenosylmethioninamine metabolic process	IEA	biological_process
GO:0046872	metal ion binding	IEA	molecular_function
GO:0051718	DNA (cytosine-5-)-methylt ransferase activity, acti ng on CpG substrates	IEA	molecular_function
GO:0071230	cellular response to amin o acid stimulus	IEA	biological_process
GO:0071361	cellular response to etha nol	IEA	biological_process
GO:0071456	cellular response to hypo xia	IEA	biological_process
GO:0090116	C-5 methylation of cytosi ne	IEA	biological_process
GO:0097284	hepatocyte apoptotic proc ess	IEA	biological_process
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	IEA	biological_process
GO:0000278	mitotic cell cycle	IEA	biological_process
GO:0000775	chromosome, centromeric r egion	IEA	cellular_component
GO:0000791	euchromatin	IDA	cellular_component
GO:0000792	heterochromatin	IEA	cellular_component
GO:0001741	XY body	IEA	cellular_component
GO:0003677	DNA binding	IEA	molecular_function
GO:0003677	DNA binding	IEA	molecular_function
GO:0003677	DNA binding	IDA	molecular_function
GO:0003682	chromatin binding	IEA	molecular_function
GO:0003886	DNA (cytosine-5-)-methylt ransferase activity	IEA	molecular_function
GO:0003886	DNA (cytosine-5-)-methylt ransferase activity	IEA	molecular_function
GO:0003886	DNA (cytosine-5-)-methylt ransferase activity	IDA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005654	nucleoplasm	IDA	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005720	nuclear heterochromatin	IEA	cellular_component
GO:0005737	cytoplasm	IEA	cellular_component
GO:0005737	cytoplasm	IEA	cellular_component
GO:0005737	cytoplasm	IEA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0006306	DNA methylation	IEA	biological_process
GO:0006306	DNA methylation	IEA	biological_process
GO:0006306	DNA methylation	IDA	biological_process
GO:0006346	methylation-dependent chr omatin silencing	IEA	biological_process
GO:0006349	regulation of gene expres sion by genetic imprintin g	IEA	biological_process
GO:0006349	regulation of gene expres sion by genetic imprintin g	TAS	biological_process
GO:0007283	spermatogenesis	IEA	biological_process
GO:0007568	aging	IEA	biological_process
GO:0008168	methyltransferase activit y	IEA	molecular_function
GO:0008168	methyltransferase activit y	IEA	molecular_function
GO:0009008	DNA-methyltransferase act ivity	IEA	molecular_function
GO:0009008	DNA-methyltransferase act ivity	TAS	molecular_function
GO:0009636	response to toxic substan ce	IEA	biological_process
GO:0010212	response to ionizing radi ation	IEA	biological_process
GO:0010288	response to lead ion	IEA	biological_process
GO:0010424	DNA methylation on cytosi ne within a CG sequence	IEA	biological_process
GO:0010468	regulation of gene expres sion	IEA	biological_process
GO:0010942	positive regulation of ce ll death	IEA	biological_process
GO:0016363	nuclear matrix	IDA	cellular_component
GO:0016740	transferase activity	IEA	molecular_function
GO:0030182	neuron differentiation	IEA	biological_process
GO:0031667	response to nutrient leve ls	IEA	biological_process
GO:0032259	methylation	IEA	biological_process
GO:0032355	response to estradiol	IEA	biological_process
GO:0032776	DNA methylation on cytosi ne	IEA	biological_process
GO:0033189	response to vitamin A	IEA	biological_process
GO:0036276	response to antidepressan t	IEA	biological_process
GO:0042220	response to cocaine	IEA	biological_process
GO:0042493	response to drug	IEA	biological_process
GO:0042802	identical protein binding	IPI	molecular_function
GO:0043045	DNA methylation involved in embryo development	IEA	biological_process
GO:0043046	DNA methylation involved in gamete generation	IEA	biological_process
GO:0044027	hypermethylation of CpG i sland	IEA	biological_process
GO:0045322	unmethylated CpG binding	IEA	molecular_function
GO:0045471	response to ethanol	IEA	biological_process
GO:0045814	negative regulation of ge ne expression, epigenetic	TAS	biological_process
GO:0046498	S-adenosylhomocysteine me tabolic process	IEA	biological_process
GO:0046499	S-adenosylmethioninamine metabolic process	IEA	biological_process
GO:0046872	metal ion binding	IEA	molecular_function
GO:0051718	DNA (cytosine-5-)-methylt ransferase activity, acti ng on CpG substrates	IEA	molecular_function
GO:0071230	cellular response to amin o acid stimulus	IEA	biological_process
GO:0071361	cellular response to etha nol	IEA	biological_process
GO:0071456	cellular response to hypo xia	IEA	biological_process
GO:0090116	C-5 methylation of cytosi ne	IEA	biological_process
GO:0097284	hepatocyte apoptotic proc ess	IEA	biological_process
GO:0000791	euchromatin	IDA	cellular_component
GO:0003677	DNA binding	IDA	molecular_function
GO:0003886	DNA (cytosine-5-)-methylt ransferase activity	IDA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005634	nucleus	IDA	cellular_component
GO:0005654	nucleoplasm	IDA	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0006306	DNA methylation	IDA	biological_process
GO:0006349	regulation of gene expres sion by genetic imprintin g	TAS	biological_process
GO:0009008	DNA-methyltransferase act ivity	TAS	molecular_function
GO:0016363	nuclear matrix	IDA	cellular_component
GO:0042802	identical protein binding	IPI	molecular_function
GO:0045814	negative regulation of ge ne expression, epigenetic	TAS	biological_process

KEGG pathways

hsa01100  Metabolic pathways
hsa05206  MicroRNAs in cancer
hsa00270  Cysteine and methionine metabolism

Diseases

Associated diseases	References
Cancer	PMID: 18381459
Crohn's disease	PMID: 21102463
Endometrial cancer	PMID: 17556066
Endometriosis	PMID: 22349384
Myelodysplastic syndrome	KEGG: H01481
Endometriosis	INFBASE22349384
Spinal dysraphism	PMID: 19161160
Tatton-Brown-Rahman syndrome	OMIM: 602769

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
22349384	Endometrio sis			40 (20 women wi th endometriosi s, the endometr ium in 20 women without endome triosis)		DNMT1 DNMT3a DNMT3b	Show abstract