EHMT2 - euchromatic histone lysine methyltransferase 2 Gene
Also Known as G9A; BAT8; GAT8; NG36; KMT1C; C6orf30
Species: Homo sapiens
About EHMT2
This gene has 12 transcripts (splice variants), 1 gene allele, 210 orthologues and 19 paralogues. Ubiquitous expression in ovary (RPKM 14.8), testis (RPKM 14.4) and 25 other tissues.
Summary
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 Products (13)
| mRNA | Protein | Name |
|---|---|---|
| XM_006714975.2 | XP_006715038.2 | histone-lysine N-methyltransferase EHMT2 isoform X2 |
| NM_001395164.1 | NP_001382093.1 | histone-lysine N-methyltransferase EHMT2 isoform j |
| NM_006709.5 | NP_006700.3 | histone-lysine N-methyltransferase EHMT2 isoform a |
| NM_001395163.1 | NP_001382092.1 | histone-lysine N-methyltransferase EHMT2 isoform i |
| NM_001395160.1 | NP_001382089.1 | histone-lysine N-methyltransferase EHMT2 isoform f |
| NM_025256.7 | NP_079532.5 | histone-lysine N-methyltransferase EHMT2 isoform b |
| NM_001363689.2 | NP_001350618.1 | histone-lysine N-methyltransferase EHMT2 isoform e |
| NM_001395162.1 | NP_001382091.1 | histone-lysine N-methyltransferase EHMT2 isoform h |
| NM_001289413.2 | NP_001276342.1 | histone-lysine N-methyltransferase EHMT2 isoform c |
| NM_001395165.1 | NP_001382094.1 | histone-lysine N-methyltransferase EHMT2 isoform k |
| XM_006714974.2 | XP_006715037.2 | histone-lysine N-methyltransferase EHMT2 isoform X1 |
| NM_001395161.1 | NP_001382090.1 | histone-lysine N-methyltransferase EHMT2 isoform g |
| NM_001318833.2 | NP_001305762.1 | histone-lysine N-methyltransferase EHMT2 isoform d |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables C2H2 zinc finger domain binding |
IPI
IPI: Inferred from physical interaction
|
16702210 | GOA |
| enables histone H3K56 methyltransferase activity |
IMP
IMP: Inferred from mutant phenotype
|
22387026 | GOA |
| enables p53 binding |
IPI
IPI: Inferred from physical interaction
|
20118233 | GOA |
| enables promoter-specific chromatin binding |
IDA
IDA: Inferred from direct assay
|
23918802 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
16189514 | GOA |
| enables protein-lysine N-methyltransferase activity |
IDA
IDA: Inferred from direct assay
|
19144645 | GOA |
| enables transcription corepressor binding |
IPI
IPI: Inferred from physical interaction
|
29628311 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| acts upstream of or within cellular response to starvation |
IDA
IDA: Inferred from direct assay
|
23918802 | GOA |
| acts upstream of or within negative regulation of transcription by RNA polymerase II |
IDA
IDA: Inferred from direct assay
|
19144645 | GOA |
| involved in peptidyl-lysine dimethylation |
IDA
IDA: Inferred from direct assay
|
20118233 | GOA |
| involved in regulation of DNA replication |
IMP
IMP: Inferred from mutant phenotype
|
22387026 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in chromatin |
IDA
IDA: Inferred from direct assay
|
19144645 | GOA |
| located in nucleus |
IDA
IDA: Inferred from direct assay
|
19144645 | GOA |
EHMT2 Protein Structure
Ank_2: Ankyrin repeats (3 copies) (656 - 741)
Ank_2: Ankyrin repeats (3 copies) (751 - 815)
Ank_2: Ankyrin repeats (3 copies) (819 - 881)
Pre-SET: Pre-SET motif (925 - 1030)
SET: SET domain (1049 - 1155)
- 0
- 200
- 400
- 600
- 800
- 1000
- 1210 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
histone-lysine N-methyltransferase EHMT2 |
|
|
EHMT2 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
EHMT2 | Q96KQ7 | KDM1A | Homo sapiens | O60341-1 | 26751641 | |
|
Intra
|
EHMT2 | Q96KQ7 | MTA2 | Homo sapiens | O94776 | 26028330 | |
|
Intra
|
EHMT2 | Q96KQ7 | MTA2 | Homo sapiens | O94776 | 26028330 | |
|
Intra
|
EHMT2 | Q96KQ7 | MTA3 | Homo sapiens | Q9BTC8 | 26028330 | |
|
Intra
|
EHMT2 | Q96KQ7 | MTA3 | Homo sapiens | Q9BTC8 | 26028330 | |
|
Intra
|
EHMT2 | Q96KQ7 | MTA3 | Homo sapiens | Q9BTC8 | 26028330 | |
|
Intra
|
EHMT2 | Q96KQ7 | NAA11 | Homo sapiens | Q9BSU3 | 32296183 | |
|
Intra
|
EHMT2 | Q96KQ7 | HDAC1 | Homo sapiens | Q13547 | 16287849 | |
|
Intra
|
EHMT2 | Q96KQ7 | HDAC1 | Homo sapiens | Q13547 | 26028330 | |
|
Intra
|
EHMT2 | Q96KQ7 | HDAC1 | Homo sapiens | Q13547 | 26028330 | |
|
Intra
|
EHMT2 | Q96KQ7 | KAT2B | Homo sapiens | Q92831 | 24492005 | |
|
Intra
|
EHMT2 | Q96KQ7 | GATA3 | Homo sapiens | P23771 | 26028330 | |
|
Intra
|
EHMT2 | Q96KQ7 | GATA3 | Homo sapiens | P23771 | 26028330 | |
|
Intra
|
EHMT2 | Q96KQ7 | GATA3 | Homo sapiens | P23771 | 26028330 | |
|
Intra
|
EHMT2 | Q96KQ7 | MTA1 | Homo sapiens | Q13330 | 26028330 | |
|
Intra
|
EHMT2 | Q96KQ7 | MTA1 | Homo sapiens | Q13330 | 26028330 | |
|
Intra
|
EHMT2 | Q96KQ7 | ZNF446 | Homo sapiens | Q9NWS9-2 | 32296183 | |
|
Intra
|
EHMT2 | Q96KQ7 | PLOD3 | Homo sapiens | O60568 | 26028330 | |
|
Intra
|
EHMT2 | Q96KQ7 | PRRC2B | Homo sapiens | Q5JSZ5 | 16189514 | |
|
Intra
|
EHMT2 | Q96KQ7 | KLF12 | Homo sapiens | Q9Y4X4 | 16189514 | |
|
Intra
|
EHMT2 | Q96KQ7 | KLF12 | Homo sapiens | Q9Y4X4 | 32296183 | |
|
Intra
|
EHMT2 | Q96KQ7 | DNMT3B | Homo sapiens | Q9UBC3 | 18953337 | |
|
Intra
|
EHMT2 | Q96KQ7 | EPDR1 | Homo sapiens | Q9UM22 | 32296183 | |
|
Intra
|
EHMT2 | Q96KQ7 | GFI1 | Homo sapiens | Q99684 | 16287849 | |
|
Cross
|
EHMT2 | Q96KQ7 | Gfi1 | Rattus norvegicus | Q07120 | 16287849 | |
|
Cross
|
EHMT2 | Q96KQ7 | Gfi1 | Rattus norvegicus | Q07120 | 16287849 |
EHMT2 Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P82628 | EHMT2 Antibody (YA2373) | WB, IHC-P | Human |
| HY-P84734 | EHMT2 Antibody (YA4431) | IHC-P, ICC/IF, FC, ELISA | Human |
| HY-P84734A | EHMT2 Antibody (YA4431)(PBS only) | IHC-P, ICC/IF, FC, ELISA | Human |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Hyperoxaluria, Primary, Type I |
|
|
| Fetal Alcohol Spectrum Disorder |
|
|
| Prader-Willi Syndrome |
|
|
| Primary Hyperoxaluria |
|
|
| Systemic Lupus Erythematosus |
|
|
| Kleefstra Syndrome |
|
|
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome |
|
|
| Basan Syndrome |
|
|
| Kleefstra Syndrome 1 |
|
|
| Beckwith-Wiedemann Syndrome |
|
|
| Leukemia, Acute Myeloid |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Macaca mulatta | EHMT2 | VGNC | VGNC:72041 |
| Bos taurus | EHMT2 | VGNC | VGNC:50609 |
| Rattus norvegicus | EHMT2 | RGD | RGD:1302972 |
| Felis catus | EHMT2 | VGNC | VGNC:61767 |
| Canis familiaris | EHMT2 | VGNC | VGNC:49100 |
| Mus musculus | EHMT2 | MGD | MGI:2148922 |
| Others | EHMT2 | NCBI |