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This gene encodes a methyltransferase that methylates lysine residues of histone H3. Methylation of H3 at lysine 9 by this protein results in recruitment of additional epigenetic regulators and repression of transcription. This gene was initially thought to be two different genes, NG36 and G9a, adjacent to each other in the HLA locus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
EHMT2 (Euchromatic Histone Lysine Methyltransferase 2) is a Protein Coding gene. Diseases associated with EHMT2 include Hyperoxaluria, Primary, Type I and Kleefstra Syndrome. Among its related pathways are Lysine degradation and PKMTs methylate histone lysines. Gene Ontology (GO) annotations related to this gene include p53 binding and C2H2 zinc finger domain binding. An important paralog of this gene is EHMT1.
Lysine methyltransferases are enyzmes that catalyze the transfer of methyl groups from S-adenosylmethionine (SAM) to the lysine residues on histones, particularly histones H3 and H4. The dysregulation of this methylation is critical in the development of cancer.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000977 | RNA polymerase II regulatory region sequence-specific DNA binding | IEA | -- |
GO:0002039 | p53 binding | IEA,IPI | 20118233 |
GO:0005515 | protein binding | IEA,IPI | 16189514 |
GO:0008168 | methyltransferase activity | IEA | -- |
GO:0008270 | zinc ion binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000790 | nuclear chromatin | IDA | 19144645 |
GO:0005634 | nucleus | IDA,ISS | -- |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0005694 | chromosome | IEA | -- |
GO:0016607 | nuclear speck | IDA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 | ||
2 | Cellular Senescence (REACTOME) | ||
3 | Regulation of TP53 Activity | ||
4 | Chromatin organization | ||
5 | Gene Expression |
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GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | IDA | 19144645 |
GO:0006275 | regulation of DNA replication | IMP | 22387026 |
GO:0006306 | DNA methylation | ISS | -- |
GO:0006325 | chromatin organization | IEA | -- |
GO:0006357 | regulation of transcription by RNA polymerase II | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Entacapone | Approved, Investigational | Pharma | COMT inhibitor, Potent COMT inhibitor; blocks alpha-synuclein aggregation | 56 | ||
D-Lysine | Approved, Experimental | Nutra | Agonist, Full agonist | 0 | ||
s-adenosylhomocysteine | Experimental | Pharma | 0 | |||
UNC0638 | Pharma | G9a/GLP HMTase inhibitor, potent and selective | 0 | |||
Antithyroid Preparations | Pharma | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
s-adenosylmethionine |
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485-80-3 |
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Furamidine dihydrochloride |
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55368-40-6 |
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SGC 707 |
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UNC 2327 |
|
1426152-53-5 |
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Compound | Action | Cas Number |
---|---|---|
C 21 | Selective PRMT1 inhibitor | 1229236-78-5 |
Furamidine dihydrochloride | Selective PRMT1 inhibitor | 55368-40-6 |
SGC 707 | Potent and selective allosteric inhibitor of PRMT3 | |
TC-E 5003 | Selective PRMT1 inhibitor | 17328-16-4 |
UNC 2327 | Allosteric inhibitor of PRMT3 | 1426152-53-5 |
Compound | Action | Cas Number |
---|---|---|
A 366 | G9a/GLP histone lysine methyltransferase inhibitor | 1527503-11-2 |
BIX 01294 | G9a and GLP inhibitor | 935693-62-2 |
Entacapone | COMT inhibitor | 130929-57-6 |
EPZ004777 | DOT1L inhibitor | 1338466-77-5 |
PFI-2 | 1627676-59-8 | |
SGI-1027 | DNMT inhibitor | 1020149-73-8 |
UNC 0224 | G9a histone methyltransferase inhibitor | 1197196-48-7 |
UNC 0631 | G9a inhibitor | 1320288-19-4 |
UNC 0642 | G9a and GLP histone lysine methyltransferase inhibitor | 1481677-78-4 |
UNC 0646 | G9a and GLP inhibitor | 1320288-17-2 |
UNC0638 | G9a/GLP HMTase inhibitor, potent and selective | 1255580-76-7 |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | EHMT2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | BAT8 31 |
|
OneToOne | |
EHMT2 30 |
|
||||
Oppossum (Monodelphis domestica) |
Mammalia | EHMT2 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | EHMT2 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Ehmt2 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Ehmt2 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | EHMT2 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | EHMT2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ehmt2 30 |
|
||
Str.3432 30 |
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||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.7568 30 |
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||
Zebrafish (Danio rerio) |
Actinopterygii | ehmt2 30 31 |
|
OneToOne | |
bat8 30 |
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||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.7796 30 |
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||
Fruit Fly (Drosophila melanogaster) |
Insecta | G9a 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.117 31 |
|
OneToMany | |
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.2694 30 |
|
SNP ID | Clinical significance and condition | Chr 06 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
716121 | Benign: not provided | 31,892,479(-) | C/T | SYNONYMOUS_VARIANT | |
724731 | Benign: not provided | 31,887,829(-) | C/A | SYNONYMOUS_VARIANT | |
753470 | Likely Benign: not provided | 31,888,387(-) | C/G | SYNONYMOUS_VARIANT | |
753471 | Benign: not provided | 31,892,503(-) | G/A | SYNONYMOUS_VARIANT | |
753997 | Likely Benign: not provided | 31,889,609(-) | G/A | GENIC_UPSTREAM_TRANSCRIPT_VARIANT,INTRON_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv10403n54 | CNV | loss | 21841781 |
dgv10404n54 | CNV | loss | 21841781 |
dgv10461n54 | CNV | loss | 21841781 |
dgv10463n54 | CNV | loss | 21841781 |
nsv1073969 | CNV | deletion | 25765185 |
nsv1112900 | CNV | deletion | 24896259 |
nsv1126749 | CNV | deletion | 24896259 |
nsv508399 | CNV | deletion | 20534489 |
nsv509126 | CNV | insertion | 20534489 |
nsv601960 | CNV | loss | 21841781 |
Disorder | Aliases | PubMed IDs |
---|---|---|
hyperoxaluria, primary, type i |
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kleefstra syndrome |
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carbohydrate metabolic disorder |
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primary hyperoxaluria |
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kleefstra syndrome 1 |
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