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KAT2A, or GCN5, is a histone acetyltransferase (HAT) that functions primarily as a transcriptional activator. It also functions as a repressor of NF-kappa-B (see MIM 164011) by promoting ubiquitination of the NF-kappa-B subunit RELA (MIM 164014) in a HAT-independent manner (Mao et al., 2009 [PubMed 19339690]).[supplied by OMIM, Sep 2009]
KAT2A (Lysine Acetyltransferase 2A) is a Protein Coding gene. Diseases associated with KAT2A include Spinocerebellar Ataxia 7 and Chromosome 16P13.3 Deletion Syndrome, Proximal. Among its related pathways are Chromatin organization and E2F transcription factor network. Gene Ontology (GO) annotations related to this gene include chromatin binding and transcription coactivator activity. An important paralog of this gene is KAT2B.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003682 | chromatin binding | IEA,IDA | 29211711 |
GO:0003713 | transcription coactivator activity | IDA | 11564863 |
GO:0004402 | histone acetyltransferase activity | IEA,TAS | -- |
GO:0005515 | protein binding | IPI | 17664281 |
GO:0008080 | N-acetyltransferase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000123 | histone acetyltransferase complex | IEA,IDA | 29973595 |
GO:0000790 | nuclear chromatin | IEA | -- |
GO:0005615 | extracellular space | HDA | 22664934 |
GO:0005634 | nucleus | IEA,IDA | 11564863 |
GO:0005654 | nucleoplasm | TAS | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001701 | in utero embryonic development | IEA | -- |
GO:0001756 | somitogenesis | IEA | -- |
GO:0001816 | cytokine production | IEA,ISS | -- |
GO:0001843 | neural tube closure | IEA | -- |
GO:0006338 | chromatin remodeling | TAS | 8552087 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
acetyl-coa |
|
72-89-9 |
|
Compound | Action | Cas Number |
---|---|---|
Donepezil HCl | AChE inhibitor | 120011-70-3 |
MG 149 | HAT inhibitor | 1243583-85-8 |
Remodelin | 1622921-15-6 |
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b | ^ | 12 | ^ | 13a | · | 13b | ^ | 14a | · | 14b | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19a | · | 19b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||||||||||||||||||||||||||||||
SP2: | |||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||||||||||||||||||||||
SP5: |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | KAT2A 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | KAT2A 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Kat2a 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Kat2a 30 17 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | KAT2A 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | KAT2A 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | KAT2A 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | KAT2A 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | KAT2A 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | kat2a 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.21330 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | kat2a 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | Pcaf 30 31 |
|
OneToMany | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP004434 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | pcaf-1 31 |
|
ManyToMany | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | GCN5 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.5837 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
745850 | Likely Benign: not provided | 42,120,711(-) | G/A | MISSENSE_VARIANT | |
773591 | Benign: not provided | 42,114,374(-) | A/G | SYNONYMOUS_VARIANT | |
775163 | Benign: not provided | 42,118,011(-) | ACTGAAGCTGAGGAGA | SPLICE_ACCEPTOR_VARIANT | |
781301 | Benign: not provided | 42,114,040(-) | C/T | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2715947 | CNV | deletion | 23290073 |
nsv1056904 | CNV | gain | 25217958 |
nsv1071384 | CNV | deletion | 25765185 |
nsv1146669 | OTHER | inversion | 26484159 |
nsv953898 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
spinocerebellar ataxia 7 |
|
|
chromosome 16p13.3 deletion syndrome, proximal |
|
|
amyotrophic lateral sclerosis 1 |
|
|