EHMT2

EHMT2
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2O8J, 3DM1, 3K5K, 3RJW, 4NVQ, 5JJ0, 5JHN, 5JIN
Identifiers
Aliases	EHMT2, BAT8, C6orf30, G9A, GAT8, KMT1C, NG36, euchromatic histone lysine methyltransferase 2
External IDs	OMIM: 604599; MGI: 2148922; HomoloGene: 48460; GeneCards: EHMT2; OMA:EHMT2 - orthologs
Gene location (Human) Chr. Chromosome 6 (human)[1] Band 6p21.33 Start 31,879,759 bp[1] End 31,897,687 bp[1]
Gene location (Mouse) Chr. Chromosome 17 (mouse)[2] Band 17 B1|17 18.45 cM Start 35,117,445 bp[2] End 35,133,028 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in nucleus accumbens ganglionic eminence putamen ventricular zone right frontal lobe right hemisphere of cerebellum caudate nucleus temporal lobe amygdala anterior cingulate cortex Top expressed in Gonadal ridge spermatid entorhinal cortex ventricular zone seminiferous tubule perirhinal cortex spermatocyte superior frontal gyrus dentate gyrus of hippocampal formation granule cell primary visual cortex More reference expression data BioGPS More reference expression data
Gene ontology Molecular function methyltransferase activity transferase activity histone methyltransferase activity (H3-K9 specific) promoter-specific chromatin binding zinc ion binding C2H2 zinc finger domain binding histone-lysine N-methyltransferase activity metal ion binding histone methyltransferase activity (H3-K27 specific) protein-lysine N-methyltransferase activity protein binding p53 binding Cellular component nucleoplasm chromosome nucleus nuclear speck Biological process regulation of DNA replication cellular response to starvation negative regulation of transcription by RNA polymerase II DNA methylation methylation peptidyl-lysine dimethylation histone lysine methylation histone methylation histone H3-K27 methylation histone H3-K9 methylation negative regulation of G0 to G1 transition chromatin organization regulation of signal transduction by p53 class mediator Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 10919 110147 Ensembl ENSG00000238134 ENSG00000224143 ENSG00000206376 ENSG00000204371 ENSG00000227333 ENSG00000232045 ENSG00000236759 ENSMUSG00000013787 UniProt Q96KQ7 Q9Z148 RefSeq (mRNA) NM_001289413 NM_006709 NM_025256 NM_001318833 NM_001363689 NM_001395160 NM_001395161 NM_001395162 NM_001395163 NM_001395164 NM_001395165 NM_001286573 NM_001286575 NM_145830 NM_147151 RefSeq (protein) NP_001276342 NP_001305762 NP_006700 NP_079532 NP_001350618 NP_001273502 NP_001273504 NP_665829 NP_671493 NP_001390796 NP_001390798 NP_001390799 Location (UCSC) Chr 6: 31.88 – 31.9 Mb Chr 17: 35.12 – 35.13 Mb PubMed search [3] [4]
Wikidata
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Euchromatic histone-lysine N-methyltransferase 2 (EHMT2), also known as G9a, is a histone methyltransferase enzyme that in humans is encoded by the EHMT2 gene.^[5][6][7] G9a deposits the mono- and di-methylated states of histone H3 at lysine residue 9 (i.e., H3K9me1 and H3K9me2) and lysine residue 27 (H3K27me1 and H3K27me2).^[8][9] The presence of H3K9me1/2 is usually associated with gene silencing.

A cluster of genes, BAT1-BAT5, has been localized in the vicinity of the genes for TNF alpha and TNF beta. This gene is found near this cluster; it was mapped near the gene for C2 within a 120-kb region that included a HSP70 gene pair. These genes are all within the human major histocompatibility complex class III region. This gene was thought to be two different genes, NG36 and G9a, adjacent to each other but a recent publication shows that there is only a single gene. The protein encoded by this gene is thought to be involved in intracellular protein-protein interaction. There are three alternatively spliced transcript variants of this gene but only two are fully described.^[7]

G9a and G9a-like protein, another histone-lysine N-methyltransferase, catalyze the synthesis of H3K9me2, which is a repressive mark.^[8][9][10] G9a is an important control mechanism for epigenetic regulation within the nucleus accumbens (NAcc);^[11] reduced G9a expression in the NAcc plays a central role in mediating the development of an addiction.^[11] G9a opposes increases in ΔFosB expression via H3K9me2 and is suppressed by ΔFosB.^[11][12] G9a exerts opposite effects to that of ΔFosB on drug-related behavior (e.g., self-administration) and synaptic remodeling (e.g., dendritic arborization – the development of additional tree-like dendritic branches and spines) in the nucleus accumbens, and therefore opposes ΔFosB's function as well as increases in its expression.^[11] G9a and ΔFosB share many of the same gene targets.^[13] In addition to its role in the nucleus accumbens, G9a play a critical role in the development and the maintenance of neuropathic pain.^[14][15] Following peripheral nerve injury, G9a regulates the expression of +600 genes in the dorsal root ganglia. This transcriptomic change reprograms the sensory neurons to a hyperexcitable state leading to mechanical pain hypersensitivity. ^[14]

EHMT2 has been shown to interact with KIAA0515 and the prostate tissue associated homeodomain protein NKX3.1.^[16][17]

EHMT2 is known to drive process such as self-renewal and tumorigenicity, and its dysregulation can be associated with cancer. Abnormal EHMT2 expression is found both in haematological malignancies, as for example leukemia, and in solid tumors, as colorectal cancer, lung cancer, head and neck tumours.^[18]