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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Cancer-related genes Disease related genes Enzymes Human disease related genes Metabolic proteins Plasma proteins Potential drug targets Transcription factors
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
2
Cytoband
p23.3
Chromosome location (bp)
25227855 - 25342590
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Required for genome-wide de novo methylation and is essential for the establishment of DNA methylation patterns during development 1,2,3. DNA methylation is coordinated with methylation of histones 4,5,6. It modifies DNA in a non-processive manner and also methylates non-CpG sites 7,8,9. May preferentially methylate DNA linker between 2 nucleosomal cores and is inhibited by histone H1 (By similarity). Plays a role in paternal and maternal imprinting (By similarity). Required for methylation of most imprinted loci in germ cells (By similarity). Acts as a transcriptional corepressor for ZBTB18 (By similarity). Recruited to trimethylated 'Lys-36' of histone H3 (H3K36me3) sites (By similarity). Can actively repress transcription through the recruitment of HDAC activity (By similarity). Also has weak auto-methylation activity on Cys-710 in absence of DNA (By similarity)....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
Metal-binding, S-adenosyl-L-methionine, Zinc
Gene summary (Entrez)i
Useful information about the gene from 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]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Q9Y6K1 [Direct mapping] DNA (cytosine-5)-methyltransferase 3A
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Enzymes ENZYME proteins Transferases Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Transcription factors Zinc-coordinating DNA-binding domains Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Disease related genes Potential drug targets Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Cardiovascular diseases Hematologic diseases Congenital malformations Other congenital malformations Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000791[euchromatin] GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0003677[DNA binding] GO:0003714[transcription corepressor activity] GO:0003886[DNA (cytosine-5-)-methyltransferase activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005694[chromosome] GO:0005737[cytoplasm] GO:0006306[DNA methylation] GO:0006325[chromatin organization] GO:0006349[regulation of gene expression by genomic imprinting] GO:0006479[protein methylation] GO:0008168[methyltransferase activity] GO:0009008[DNA-methyltransferase activity] GO:0010468[regulation of gene expression] GO:0016363[nuclear matrix] GO:0016740[transferase activity] GO:0032259[methylation] GO:0032776[DNA methylation on cytosine] GO:0042802[identical protein binding] GO:0045892[negative regulation of DNA-templated transcription] GO:0046872[metal ion binding] GO:0061629[RNA polymerase II-specific DNA-binding transcription factor binding] GO:0090116[C-5 methylation of cytosine] GO:0106363[protein-cysteine methyltransferase activity] GO:1902494[catalytic complex]
Q9Y6K1 [Direct mapping] DNA (cytosine-5)-methyltransferase 3A
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Enzymes ENZYME proteins Transferases Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Transcription factors Zinc-coordinating DNA-binding domains Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Disease related genes Potential drug targets Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Cardiovascular diseases Hematologic diseases Congenital malformations Other congenital malformations Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Q9Y6K1 [Direct mapping] DNA (cytosine-5)-methyltransferase 3A
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Enzymes ENZYME proteins Transferases Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Transcription factors Zinc-coordinating DNA-binding domains Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Disease related genes Potential drug targets Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Cardiovascular diseases Hematologic diseases Congenital malformations Other congenital malformations Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000791[euchromatin] GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0003677[DNA binding] GO:0003714[transcription corepressor activity] GO:0003886[DNA (cytosine-5-)-methyltransferase activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005694[chromosome] GO:0005737[cytoplasm] GO:0006306[DNA methylation] GO:0006325[chromatin organization] GO:0006349[regulation of gene expression by genomic imprinting] GO:0006479[protein methylation] GO:0008168[methyltransferase activity] GO:0009008[DNA-methyltransferase activity] GO:0010468[regulation of gene expression] GO:0016363[nuclear matrix] GO:0016740[transferase activity] GO:0032259[methylation] GO:0032776[DNA methylation on cytosine] GO:0042802[identical protein binding] GO:0045892[negative regulation of DNA-templated transcription] GO:0046872[metal ion binding] GO:0061629[RNA polymerase II-specific DNA-binding transcription factor binding] GO:0090116[C-5 methylation of cytosine] GO:0106363[protein-cysteine methyltransferase activity] GO:1902494[catalytic complex]
A0A0C4DG02 [Direct mapping] DNA (cytosine-5-)-methyltransferase
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Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Cardiovascular diseases Hematologic diseases Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
Q9Y6K1 [Direct mapping] DNA (cytosine-5)-methyltransferase 3A
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Enzymes ENZYME proteins Transferases Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Transcription factors Zinc-coordinating DNA-binding domains Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Disease related genes Potential drug targets Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Cardiovascular diseases Hematologic diseases Congenital malformations Other congenital malformations Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000791[euchromatin] GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0003677[DNA binding] GO:0003714[transcription corepressor activity] GO:0003886[DNA (cytosine-5-)-methyltransferase activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005694[chromosome] GO:0005737[cytoplasm] GO:0006306[DNA methylation] GO:0006325[chromatin organization] GO:0006349[regulation of gene expression by genomic imprinting] GO:0006479[protein methylation] GO:0008168[methyltransferase activity] GO:0009008[DNA-methyltransferase activity] GO:0010468[regulation of gene expression] GO:0016363[nuclear matrix] GO:0016740[transferase activity] GO:0032259[methylation] GO:0032776[DNA methylation on cytosine] GO:0042802[identical protein binding] GO:0045892[negative regulation of DNA-templated transcription] GO:0046872[metal ion binding] GO:0061629[RNA polymerase II-specific DNA-binding transcription factor binding] GO:0090116[C-5 methylation of cytosine] GO:0106363[protein-cysteine methyltransferase activity] GO:1902494[catalytic complex]
A0A8I5KXG9 [Direct mapping] DNA (cytosine-5)-methyltransferase 3A
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Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Cardiovascular diseases Hematologic diseases Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
A0A0C4DG02 [Direct mapping] DNA (cytosine-5-)-methyltransferase
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Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Cardiovascular diseases Hematologic diseases Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
