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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

KAT2A Gene

protein-coding GIFtS: 66
GCID: GC17M040265

K(Lysine) Acetyltransferase 2A

(Previous name: GCN5 general control of amino-acid synthesis 5-like 2 (yeast))
(Previous symbol: GCN5L2)

Microbiology & Infectious Diseases Congress

8 related diseases
at

MalaCards

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
About This Section

Aliases
K(Lysine) Acetyltransferase 2A¹ ²		PCAF-b²
GCN5L2¹ ² ³ ⁵		GCN5 (General Control Of Amino-Acid Synthesis, Yeast, Homolog)-Like 2²
GCN5² ³ ⁵		General Control Of Amino Acid Synthesis, Yeast, Homolog-Like 2²
General Control Of Amino Acid Synthesis Protein 5-Like 2² ³		hGCN5²
Histone Acetyltransferase GCN5² ³		Histone Acetyltransferase KAT2A²
Lysine Acetyltransferase 2A² ³		hsGCN5²
STAF97² ³		HGCN5³
EC 2.3.1.48³ ⁸		HsGCN5³
GCN5 General Control Of Amino-Acid Synthesis 5-Like 2 (Yeast)¹

External Ids:	HGNC: 4201¹	Entrez Gene: 2648²	Ensembl: ENSG00000108773⁷	OMIM: 602301⁵	UniProtKB: Q92830³

Export aliases for KAT2A gene to outside databases

Previous GC identifers: GC17M037519 GC17M036030

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for KAT2A Gene:

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)

GeneCards Summary for KAT2A Gene:

KAT2A (K(lysine) acetyltransferase 2A) is a protein-coding gene. Diseases associated with KAT2A include retinal degeneration, and cystic fibrosis, and among its related super-pathways are Notch Signaling Pathway and Constitutive Signaling by NOTCH1 PEST Domain Mutants. GO annotations related to this gene include histone deacetylase binding and chromatin binding. An important paralog of this gene is BAZ1A.

UniProtKB/Swiss-Prot: KAT2A_HUMAN, Q92830

Function: Functions as a histone acetyltransferase (HAT) to promote transcriptional activation. Acetylation of histones

gives a specific tag for epigenetic transcription activation. Has significant histone acetyltransferase activity with

core histones, but not with nucleosome core particles. In case of HIV-1 infection, it is recruited by the viral

protein Tat. Regulates Tat's transactivating activity and may help inducing chromatin remodeling of proviral genes.

Component of the ATAC complex, a complex with histone acetyltransferase activity on histones H3 and H4

Gene Wiki entry for KAT2A (GCN5L2) Gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000017.10 NT_010783.15 NC_018928.2

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the KAT2A gene promoter:
STAT5B STAT1 STAT4 STAT6 STAT1beta STAT5A Egr-4 STAT1alpha STAT2 STAT3
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: KAT2A promoter sequence

Search SABiosciences Chromatin IP Primers for KAT2A

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KAT2A

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17q21 Ensembl cytogenetic band: 17q21.2 HGNC cytogenetic band: 17q12-q21

KAT2A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KAT2A gene location

GeneLoc information about chromosome 17 GeneLoc Exon Structure

GeneLoc location for GC17M040265: view genomic region (about GC identifiers)

Start:	40,265,126 bp from pter	End:	40,273,382 bp from pter
Size:	8,257 bases	Orientation:	minus strand

1 alternative location:

Chr17-,NW_003571052 399,753-408,006

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: KAT2A_HUMAN, Q92830 (See protein sequence)

Recommended Name: Histone acetyltransferase KAT2A

Size: 837 amino acids; 93926 Da

Subunit: Interacts with EP300, CREBBP and ADA2. Component of the TFTC-HAT complex, at least composed of TAF5L, TAF6L,

TAF3, TADA3L, SUPT3H/SPT3, TAF2/TAFII150, TAF4/TAFII135, TAF5/TAFII100, KAT2A/GCN5L2, TAF10 and TRRAP. Interacts with

TRRAP. Component of the STAGA transcription coactivator-HAT complex, at least composed of SUPT3H, KAT2A, SUPT7L,

TAF5L, TAF6L, TADA3L, TAD1L, TAF10, TAF12, TRRAP and TAF9. The STAGA core complex is associated with a subcomplex

required for histone deubiquitination composed of ATXN7L3, ENY2 and USP22. Interacts with and acetylates HIV-1 Tat.

Component of the ADA2A-containing complex (ATAC), composed of CSRP2BP, KAT2A, TADA2L, TADA3L, ZZ3, MBIP, WDR5, YEATS2,

CCDC101 and DR1. In the complex, it probably interacts directly with CSRP2BP, MBIP and WDR5. Interacts with PML (By

similarity)

Subcellular location: Nucleus

3 PDB 3D structures from and Proteopedia for KAT2A:

1F68 (3D)

1Z4R (3D)

3D7C (3D)

Secondary accessions: Q8N1A2 Q9UCW1

Alternative splicing: 2 isoforms: Q92830-1 Q92830-2

Explore the universe of human proteins at neXtProt for KAT2A: NX_Q92830

Explore proteomics data for KAT2A at MOPED

Post-translational modifications:

View modification sites using PhosphoSitePlus

View neXtProt modification sites for NX_Q92830

2 DME Specific Peptides for KAT2A (Q92830)

EQVKGYGT

YAIGYFKKQGF

KAT2A Protein expression data from MOPED¹, PaxDb² and MAXQB³ : About this image

REFSEQ proteins: NP_066564.2

ENSEMBL proteins:

ENSP00000225916 ENSP00000468390 ENSP00000467324

Reactome Protein details: Q92830
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Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000123	histone acetyltransferase complex	--	--
GO:0005634	nucleus	--	--
GO:0005671	Ada2/Gcn5/Ada3 transcription activator complex	IDA	18838386
GO:0030914	STAGA complex	IDA	11564863
GO:0033276	transcription factor TFTC complex	IDA	10373431

KAT2A for ontologies About GeneDecksing

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

HGNC Gene Families:

KAT: Chromatin-modifying enzymes / K-acetyltransferases

5/6 InterPro protein domains (see all 6):

IPR009464 PCAF_N

IPR000182 GNAT_dom

IPR018359 Bromodomain_CS

IPR016376 Hist_acetylase_PCAF

IPR016181 Acyl_CoA_acyltransferase

Graphical View of Domain Structure for InterPro Entry Q92830

ProtoNet protein and cluster: Q92830

2 Blocks protein domains:

IPB001487 Bromodomain signature

IPB009464 PCAF

UniProtKB/Swiss-Prot: KAT2A_HUMAN, Q92830

Similarity: Belongs to the GCN5 family

Similarity: Contains 1 bromo domain

Similarity: Contains 1 N-acetyltransferase domain

KAT2A for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: KAT2A_HUMAN, Q92830

Function: Functions as a histone acetyltransferase (HAT) to promote transcriptional activation. Acetylation of histones

gives a specific tag for epigenetic transcription activation. Has significant histone acetyltransferase activity with

core histones, but not with nucleosome core particles. In case of HIV-1 infection, it is recruited by the viral

protein Tat. Regulates Tat's transactivating activity and may help inducing chromatin remodeling of proviral genes.

Component of the ATAC complex, a complex with histone acetyltransferase activity on histones H3 and H4

Catalytic activity: Acetyl-CoA + [histone] = CoA + acetyl-[histone]

Enzyme Number (IUBMB): EC 2.3.1.48¹ ²

Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003682	chromatin binding	IEA	--
GO:0003713	transcription coactivator activity	IDA	11564863
GO:0004402	contributes to histone acetyltransferase activity	IDA	11564863
GO:0005515	protein binding	IPI	17664281
GO:0008080	N-acetyltransferase activity	--	--

KAT2A for ontologies About GeneDecksing

Phenotypes:
1 GenomeRNAi human phenotype for KAT2A:

Decreased p24 protein expressi

12 MGI mutant phenotypes (inferred from 6 alleles) (MGI details for Kat2a):

behavior/neurological	cardiovascular system	cellular	craniofacial	embryogenesis
growth/size	mortality/aging	nervous system	normal	respiratory system
skeleton	vision/eye

KAT2A for phenotypes About GeneDecksing

Animal Models:
Mouse knock-outs for KAT2A: Kat2a^tm3.1Roth Kat2a^tm1Nkt

inGenious Targeting Laboratory - Custom generated mouse model solutions for KAT2A

inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for KAT2A

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KAT2A

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
About This Section

SuperPaths for KAT2A About (see all 16)

See pathways by source

SuperPath

Selected contained pathways About (see all per SuperPath)

Notch signaling pathway

Notch signaling pathway

0.84

Notch Signaling Pathway

0.84

Signaling by NOTCH1 t(7 9)(NOTCH1:M1580 K2555) Translocation Mutant

Constitutive Signaling by NOTCH1 PEST Domain Mutants	0.89	Signaling by NOTCH1 in Cancer	0.79
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants	0.89	Signaling by NOTCH1	0.79
Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer	0.79	Signaling by NOTCH1 t(7 9)(NOTCH1:M1580 K2555) Translocation Mutant	0.79
Signaling by NOTCH1 PEST Domain Mutants in Cancer	0.79	Signaling by NOTCH	0.74

Generic Transcription Pathway

Gene Expression

0.47

Generic Transcription Pathway

0.47

NOTCH2 intracellular domain regulates transcription

Notch-HLH transcription pathway

0.32

NICD traffics to nucleus

0.32

Signaling by GPCR

Signal Transduction

0.55

Pathways by source See SuperPaths
Show all pathways

2 EMD Millipore Pathways for KAT2A

	Development Notch Signaling Pathway
	Histone modification

1 R&D Systems Pathway for KAT2A

Notch Signaling Pathways

1 Cell Signaling Technology (CST) Pathway for KAT2A

Chromatin Regulation / Acetylation

1 GeneGo (Thomson Reuters) Pathway for KAT2A

Development Notch Signaling Pathway

5 BioSystems Pathways for KAT2A

	Notch Signaling Pathway
	E2F transcription factor network
	Regulation of nuclear SMAD2/3 signaling
	C-MYC pathway
	Validated targets of C-MYC transcriptional activation

5/17 Reactome Pathways for KAT2A (see all 17)

	Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
	NOTCH1 Intracellular Domain Regulates Transcription
	FBXW7 Mutants and NOTCH1 in Cancer
	Notch-HLH transcription pathway
	Signaling by NOTCH1 HD Domain Mutants in Cancer

3 Kegg Pathways (Kegg details for KAT2A):

	Notch signaling pathway
	HTLV-I infection
	Viral carcinogenesis

KAT2A for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for KAT2A

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/214 Interacting proteins for KAT2A (Q92830^{1, 2, 3} ENSP00000225916⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 214)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
HIST1H4A	P62805³, ENSP00000352980⁴	I2D: score=1 STRING: ENSP00000352980
HIST1H4B	P62805³	I2D: score=1
HIST1H4C	P62805³	I2D: score=1
HIST1H4D	P62805³	I2D: score=1
HIST1H4E	P62805³	I2D: score=1

About this table

Gene Ontology (GO): 5/21 biological process terms (GO ID links to tree view) (see all 21): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001701	in utero embryonic development	IEA	--
GO:0001756	somitogenesis	IEA	--
GO:0001843	neural tube closure	IEA	--
GO:0006338	chromatin remodeling	TAS	8552087
GO:0006355	regulation of transcription, DNA-dependent	--	--

KAT2A for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, IUPHAR, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

KAT2A for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

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Browse Tocris compounds for KAT2A

2 HMDB Compounds for KAT2A About this table

Compound	Synonyms	CAS #	PubMed Ids
Acetyl-CoA	S-Acetyl coenzyme A (see all 13)	72-89-9	--
Coenzyme A	Acetoacetyl coenzyme A sodium salt (see all 21)	85-61-0	--

1 DrugBank Compound for KAT2A About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Coenzyme A	--	85-61-0	target	--	10592235

1 Novoseek inferred chemical compound relationship for KAT2A gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
lysine	52.3	3	17760996 (1), 18480452 (1), 19940161 (1)

Search CenterWatch for drugs/clinical trials and news about KAT2A

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for KAT2A gene:

NM_021078.2

Unigene Cluster for KAT2A:

K(lysine) acetyltransferase 2A

Hs.463045 [show with all ESTs]

Unigene Representative Sequence: NM_021078

5 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000225916(uc002hyx.2) ENST00000465682 ENST00000586972 ENST00000588759

ENST00000592310

Congresses - knowledge worth sharing:
European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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Additional mRNA sequence:

AF029777.1 BC032743.1 BC039907.1 BC105977.1

11 DOTS entries:

DT.100782516 DT.101976634 DT.454032 DT.100782517 DT.120956925 DT.120957022 DT.120956933 DT.97847268

DT.91982305 DT.92439173 DT.92024500

24/939 AceView cDNA sequences (see all 939):

CD367703 CR624854 BM856818 BG910375 BQ723274 CB995288 AI440062 BU508647

BP364342 CR595680 AI188734 BM563618 CR617757 AI272124 BQ897177 BM829325

BM551506 AI361665 BG231732 CR623581 BQ879580 BQ229685 T16918 AI445906

GeneLoc Exon Structure

5 Alternative Splicing Database (ASD) splice patterns (SP) for KAT2A About this scheme

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:

ECgene alternative splicing isoforms for KAT2A

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

KAT2A expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: CCTTGTCCAG

About this image

See KAT2A Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for KAT2A

SOURCE GeneReport for Unigene cluster: Hs.463045

UniProtKB/Swiss-Prot: KAT2A_HUMAN, Q92830

Tissue specificity: Expressed in all tissues tested, with most abundant expression in ovary

SABiosciences Expression via Pathway-Focused PCR Arrays including KAT2A:

Epigenetic Chromatin Modification Enzymes in human mouse rat

Stem Cells in human mouse rat

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In Situ
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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for KAT2A gene from 10/18 species (see all 18) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Kat2a^{1 , 5}	K(lysine) acetyltransferase 2A^{1, 5}	90.67(n)¹ 98.19(a)¹		11 (63.53 cM)⁵ 14534¹ NM_020004.5¹ NP_064388.2¹ 100704746⁵
chicken (Gallus gallus)	Aves	KAT2A¹	K(lysine) acetyltransferase 2A	82.35(n) 88.02(a)		374232 NM_204329.1 NP_989660.1
lizard (Anolis carolinensis)	Reptilia	KAT2A⁶	K(lysine) acetyltransferase 2A	81(a)	1 ↔ 1	6(72877634-72901955)
African clawed frog (Xenopus laevis)	Amphibia	Xl.21330²	Xenopus laevis transcribed sequence with strong similarity to protein refNP_066564.1 (H.sapiens) GCN5 general control of amino-acid synthesis 5-like 2 (yeast); GCN5 (general control of amino-acid synthesis, yeast, homolog)-like 2; hGCN5; General control less	76.13(n)		BJ072879.1
zebrafish (Danio rerio)	Actinopterygii	kat2a¹	K(lysine) acetyltransferase 2A	76.49(n) 86.62(a)		555517 XM_001922697.3 XP_001922732.1
fruit fly (Drosophila melanogaster)	Insecta	Pcaf¹	CG4107-PA	56.06(n) 49.61(a)		39431 NM_140329.3 NP_648586.2
worm (Caenorhabditis elegans)	Secernentea	pcaf-1¹	Protein PCAF-1	43.38(n) 34.43(a)		171920 NM_058772.5 NP_491173.1
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	GCN5⁶	Acetyltransferase, modifies N-terminal lysines on ...	42(a)	1 → many	VII(996869-998188)
thale cress (Arabidopsis thaliana)	eudicotyledons	HAG1¹	histone acetyltransferase GCN5	51.06(n) 45.09(a)		824626 NM_115318.2 NP_567002.1
rice (Oryza sativa)	Liliopsida	Os10g0415900¹	hypothetical protein	48.4(n) 42.47(a)		4348629 NM_001071139.1 NP_001064604.1

ENSEMBL Gene Tree for KAT2A (if available)
TreeFam Gene Tree for KAT2A (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for KAT2A gene

BAZ1A² BPTF² BAZ2B² CECR2² BAZ2A² BAZ1B² KAT2B²

2 SIMAP similar genes for KAT2A using alignment to 3 protein entries: KAT2A_HUMAN (see all proteins):

KAT2B BPTF

KAT2A for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 17 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs17659391^1,2	C,F,H	--	40266939(+)	`GGACAG/ACTCCG`	2	/L	syn¹ ese³		13		NA NS EA EU	6633
rs144813806^1,2	F	--	40266982(+)	`ATCAGC/TGTCGC`	2	T	syn¹		1		NA	4552
rs151266449^1,2	C	--	40267087(+)	`CATCCA/GTAAGT`	1	--	int¹		0	--	--	--	--
rs77336254^1,2	C,F	--	40267110(+)	`CTGTCG/ATCCCT`	1	--	int¹		1		WA	118
rs140505457^1,2		--	40267178(+)	`TCCTCC/TTGGGG`	1	--	int¹		0	--	--	--	--
rs186655063^1,2		--	40267249(+)	`ATCCCA/GAAGAG`	1	--	int¹		0	--	--	--	--
rs2074166^1,2	C,F,A,H	--	40267255(-)	`GGGGGA/GCTCTT`	1	--	int¹		21		EA NS NA WA CSA	2781
rs2074165^1,2	C,F,A	--	40267299(-)	`AGGCTG/AGAGGA`	1	--	int¹		6		NA WA CSA	11
rs145017118^1,2		--	40267529(+)	`CCCCAA/GTTCCT`	1	--	int¹		0	--	--	--	--
rs191356084^1,2		--	40267557(+)	`CCCCAC/TAGGCC`	1	--	int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for KAT2A (40265126 - 40273382 bp)

Structural Variations
Database of Genomic Variants (DGV) 4 variations for KAT2A: About this table

Variant ID	Type	Subtype	PubMed ID
esv2715947	CNV	Deletion	23290073
dgv3169n71	CNV	Loss	21882294
nsv908241	CNV	Loss	21882294
nsv908240	CNV	Loss	21882294

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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KAT2A for disorders           About GeneDecksing

OMIM gene information: 602301    OMIM disorders: --

8 diseases for KAT2A:    About MalaCards

retinal degeneration cystic fibrosis retinitis acute lymphoblastic leukemia

lymphoblastic leukemia thyroiditis breast cancer leukemia

Genetic Association Database (GAD): KAT2A
Human Genome Epidemiology (HuGE) Navigator: KAT2A (1 document)

Export disorders for KAT2A gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for KAT2A gene, integrated from 9 sources (see all 148):
(articles sorted by number of sources associating them with KAT2A)

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Identification of human proteins functionally conserved with the yeast putative adaptors ADA2 and GCN5. (PubMed id 8552087)^{1, 2, 3} Candau R....Berger S.L. (1996)
The histone acetyltransferase, hGCN5, interacts with and acetylates the HIV transactivator, Tat. (PubMed id 11384967)^{1, 2, 9} Col E....Khochbin S. (2001)
Cloning of Drosophila GCN5: conserved features among metazoan GCN5 family members. (PubMed id 9611240)^{1, 2, 9} Smith E.R.... Allis C.D. (1998)
A TFTC/STAGA module mediates histone H2A and H2B deubiquitination, coactivates nuclear receptors, and counteracts heterochromatin silencing. (PubMed id 18206972)^{1, 2} Zhao Y.... Devys D. (2008)
Immunoaffinity profiling of tyrosine phosphorylation in cancer cells. (PubMed id 15592455)^{1, 2} Rush J.... Comb M.J. (2005)
The transforming acidic coiled coil proteins interact with nuclear histone acetyltransferases. (PubMed id 14767476)^{1, 2} Gangisetty O.... Still I.H. (2004)
Human STAGA complex is a chromatin-acetylating transcription coactivator that interacts with pre-mRNA splicing and DNA damage- binding factors in vivo. (PubMed id 11564863)^{1, 2} Martinez E.... Roeder R.G. (2001)
The TFIID components human TAFII140 and Drosophila BIP2 (TAFII155) are novel metazoan homologues of yeast TAFII47 containing a histone fold and a PHD finger. (PubMed id 11438666)^{1, 2} Gangloff Y.G.... Davidson I. (2001)
The essential cofactor TRRAP recruits the histone acetyltransferase hGCN5 to c-Myc. (PubMed id 10611234)^{1, 2} McMahon S.B.... Cole M.D. (2000)
Solution structure and acetyl-lysine binding activity of the GCN5 bromodomain. (PubMed id 11090279)^{1, 2} Hudson B.P.... Wright P.E. (2000)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 2648	HGNC: 4201	AceView: RAB5CandGCN5L2	Ensembl:ENSG00000108773	euGenes: HUgn2648
ECgene: KAT2A	Kegg: 2648	H-InvDB: KAT2A

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for KAT2A	Pharmacogenomics, SNPs, Pathways

Intellectual Property for KAT2A gene
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KAT2A Gene

K(Lysine) Acetyltransferase 2A

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K(Lysine) Acetyltransferase 2A

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