CBP and p300 are large nuclear proteins that bind to many sequence-specific factors involved in cell growth and/or differentiation, including c-jun and the adenoviral oncoprotein E1A. The protein encoded by this gene associates with p300/CBP. It has in vitro and in vivo binding activity with CBP and p300, and competes with E1A for binding sites in p300/CBP. It has histone acety... See more...

Aliases for KAT2B Gene

Aliases for KAT2B Gene

  • Lysine Acetyltransferase 2B 2 3 4 5
  • P300/CBP-Associated Factor 2 3 4
  • P/CAF 2 3 4
  • Spermidine Acetyltransferase KAT2B 3 4
  • Histone Acetyltransferase KAT2B 3 4
  • K(Lysine) Acetyltransferase 2B 2 3
  • Histone Acetyltransferase PCAF 3 4
  • Histone Acetylase PCAF 3 4
  • EC 2.3.1.48 4 51
  • PCAF 3 4
  • CREBBP-Associated Factor 3
  • EC 2.3.1.57 4
  • KAT2B 5
  • GCN5L 2
  • GCN5 2
  • CAF 3

External Ids for KAT2B Gene

Previous HGNC Symbols for KAT2B Gene

  • PCAF

Previous GeneCards Identifiers for KAT2B Gene

  • GC03P020057
  • GC03P020021

Summaries for KAT2B Gene

Entrez Gene Summary for KAT2B Gene

  • CBP and p300 are large nuclear proteins that bind to many sequence-specific factors involved in cell growth and/or differentiation, including c-jun and the adenoviral oncoprotein E1A. The protein encoded by this gene associates with p300/CBP. It has in vitro and in vivo binding activity with CBP and p300, and competes with E1A for binding sites in p300/CBP. It has histone acetyl transferase activity with core histones and nucleosome core particles, indicating that this protein plays a direct role in transcriptional regulation. [provided by RefSeq, Jul 2008]

GeneCards Summary for KAT2B Gene

KAT2B (Lysine Acetyltransferase 2B) is a Protein Coding gene. Diseases associated with KAT2B include Holt-Oram Syndrome and Spinocerebellar Ataxia 7. Among its related pathways are Chromatin organization and E2F transcription factor network. Gene Ontology (GO) annotations related to this gene include protein kinase binding and transcription coactivator activity. An important paralog of this gene is KAT2A.

UniProtKB/Swiss-Prot Summary for KAT2B Gene

  • Functions as a histone acetyltransferase (HAT) to promote transcriptional activation (PubMed:8945521). Has significant histone acetyltransferase activity with core histones (H3 and H4), and also with nucleosome core particles (PubMed:8945521). Also acetylates non-histone proteins, such as ACLY, PLK4, RRP9/U3-55K and TBX5 (PubMed:9707565, PubMed:10675335, PubMed:27796307, PubMed:23932781, PubMed:26867678, PubMed:29174768). Inhibits cell-cycle progression and counteracts the mitogenic activity of the adenoviral oncoprotein E1A (PubMed:8684459). Acts as a circadian transcriptional coactivator which enhances the activity of the circadian transcriptional activators: NPAS2-ARNTL/BMAL1 and CLOCK-ARNTL/BMAL1 heterodimers (PubMed:14645221). Involved in heart and limb development by mediating acetylation of TBX5, acetylation regulating nucleocytoplasmic shuttling of TBX5 (PubMed:29174768). Acts as a negative regulator of centrosome amplification by mediating acetylation of PLK4 (PubMed:27796307). Acetylates RRP9/U3-55K, a core subunit of the U3 snoRNP complex, impairing pre-rRNA processing (PubMed:26867678). Also acetylates spermidine (PubMed:27389534).
  • (Microbial infection) 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.

Gene Wiki entry for KAT2B Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KAT2B Gene

Genomics for KAT2B Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for KAT2B Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J020038 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 605.1 +1.6 1575 7.6 HNRNPL GATAD2A CTCF PRDM10 ZNF629 ZNF512 LEF1 IKZF1 ZNF692 BACH1 KAT2B EFHB RAB5A piR-57387-034 SGO1
GH03J020184 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 22.9 +145.9 145928 5.5 SP1 HNRNPL CREB1 GATAD2A PRDM10 REST ZNF629 TFE3 LEF1 IKZF1 LOC107986067 SGO1 lnc-PP2D1-2 KAT2B SGO1-AS1
GH03J019945 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 11.2 -92.8 -92772 4.7 CEBPG SP1 CREB1 GATAD2A HNRNPL TEAD4 PRDM10 ZNF629 TFE3 LEF1 EFHB NONHSAG034575.2 RAB5A lnc-EFHB-2 KAT2B PP2D1 piR-50968-078
GH03J020079 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 17.2 +40.3 40294 2.2 REST POLR2A PKNOX1 RXRB NR2C1 TCF12 SP1 GABPA PBX2 SOX13 KAT2B RF00017-3939 FJ601684-314 SGO1
GH03J020071 Enhancer 0.6 dbSUPER 38.4 +32.7 32686 4.1 CEBPG KDM1A FOXA1 CEBPB EZH2 ZNF189 RXRA ZMYM3 FOXA3 PKNOX1 KAT2B EFHB RF00017-3939 FJ601684-314 SGO1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KAT2B on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KAT2B

Top Transcription factor binding sites by QIAGEN in the KAT2B gene promoter:
  • AP-1
  • ATF-2
  • c-Fos
  • c-Jun
  • MyoD
  • STAT3

Genomic Locations for KAT2B Gene

Genomic Locations for KAT2B Gene
chr3:20,040,407-20,154,404
(GRCh38/hg38)
Size:
113,998 bases
Orientation:
Plus strand
chr3:20,081,515-20,195,896
(GRCh37/hg19)
Size:
114,382 bases
Orientation:
Plus strand

Genomic View for KAT2B Gene

Genes around KAT2B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KAT2B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KAT2B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KAT2B Gene

Proteins for KAT2B Gene

  • Protein details for KAT2B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92831-KAT2B_HUMAN
    Recommended name:
    Histone acetyltransferase KAT2B
    Protein Accession:
    Q92831
    Secondary Accessions:
    • Q6NSK1

    Protein attributes for KAT2B Gene

    Size:
    832 amino acids
    Molecular mass:
    93013 Da
    Quaternary structure:
    • Interacts with SIRT1. Interacts (unsumoylated form) with NR2C1; the interaction promotes transactivation activity (By similarity). Interacts with EP300, CREBBP and DDX17. Interacts with NCOA1 and NCOA3. Component of a large chromatin remodeling complex, at least composed of MYSM1, KAT2B/PCAF, RBM10 and KIF11/TRIP5. Interacts with NR2C2 (hypophosphorylated and unsumoylated form); the interaction promotes the transactivation activity of NR2C2. Interacts with KLF1; the interaction does not acetylate KLF1 and there is no enhancement of its transactivational activity. Interacts with NFE4. Interacts with MECOM. Interacts with E2F1; the interaction acetylates E2F1 augmenting its DNA-binding and transcriptional activity. Interacts with NPAS2, ARNTL/BMAL1 and CLOCK. Interacts with BCAS3. Interacts with CEBPB (PubMed:17301242). Interacts with NR4A3 (By similarity). Interacts with NFATC2 (By similarity). Interacts with TBX5 (PubMed:29174768). Interacts with PLK4 (PubMed:27796307). Interacts with RB1; this interaction leads to RB1 acetylation (By similarity).
    • (Microbial infection) Interacts with and acetylates HIV-1 Tat.
    • (Microbial infection) Interacts with HTLV-1 Tax.

    Three dimensional structures from OCA and Proteopedia for KAT2B Gene

neXtProt entry for KAT2B Gene

Selected DME Specific Peptides for KAT2B Gene

Q92831:
  • YAIGYFKKQGF
  • EQVKGYGT

Post-translational modifications for KAT2B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KAT2B Gene

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for KAT2B

Domains & Families for KAT2B Gene

Gene Families for KAT2B Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for KAT2B Gene

InterPro:
Blocks:
  • Bromodomain signature
  • GCN5-related N-acetyltransferase
  • PCAF, N-terminal
ProtoNet:

Suggested Antigen Peptide Sequences for KAT2B Gene

GenScript: Design optimal peptide antigens:
  • P300/CBP-associated factor (KAT2B_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q92831

UniProtKB/Swiss-Prot:

KAT2B_HUMAN :
  • (Microbial infection) The bromodomain mediates binding to HIV-1 Tat.
  • Belongs to the acetyltransferase family. GCN5 subfamily.
Domain:
  • (Microbial infection) The bromodomain mediates binding to HIV-1 Tat.
Family:
  • Belongs to the acetyltransferase family. GCN5 subfamily.
genes like me logo Genes that share domains with KAT2B: view

Function for KAT2B Gene

Molecular function for KAT2B Gene

UniProtKB/Swiss-Prot Function:
Functions as a histone acetyltransferase (HAT) to promote transcriptional activation (PubMed:8945521). Has significant histone acetyltransferase activity with core histones (H3 and H4), and also with nucleosome core particles (PubMed:8945521). Also acetylates non-histone proteins, such as ACLY, PLK4, RRP9/U3-55K and TBX5 (PubMed:9707565, PubMed:10675335, PubMed:27796307, PubMed:23932781, PubMed:26867678, PubMed:29174768). Inhibits cell-cycle progression and counteracts the mitogenic activity of the adenoviral oncoprotein E1A (PubMed:8684459). Acts as a circadian transcriptional coactivator which enhances the activity of the circadian transcriptional activators: NPAS2-ARNTL/BMAL1 and CLOCK-ARNTL/BMAL1 heterodimers (PubMed:14645221). Involved in heart and limb development by mediating acetylation of TBX5, acetylation regulating nucleocytoplasmic shuttling of TBX5 (PubMed:29174768). Acts as a negative regulator of centrosome amplification by mediating acetylation of PLK4 (PubMed:27796307). Acetylates RRP9/U3-55K, a core subunit of the U3 snoRNP complex, impairing pre-rRNA processing (PubMed:26867678). Also acetylates spermidine (PubMed:27389534).
UniProtKB/Swiss-Prot Function:
(Microbial infection) 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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=acetyl-CoA + L-lysyl-[protein] = CoA + H(+) + N(6)-acetyl-L-lysyl-[protein]; Xref=Rhea:RHEA:45948, Rhea:RHEA-COMP:9752, Rhea:RHEA-COMP:10731, ChEBI:CHEBI:15378, ChEBI:CHEBI:29969, ChEBI:CHEBI:57287, ChEBI:CHEBI:57288, ChEBI:CHEBI:61930; EC=2.3.1.48; Evidence={ECO:0000269|PubMed:27389534, ECO:0000269|PubMed:8945521};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=acetyl-CoA + spermidine = CoA + H(+) + N(8)-acetylspermidine; Xref=Rhea:RHEA:28270, ChEBI:CHEBI:15378, ChEBI:CHEBI:57287, ChEBI:CHEBI:57288, ChEBI:CHEBI:57834, ChEBI:CHEBI:58535; EC=2.3.1.57; Evidence={ECO:0000269|PubMed:27389534};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=1.74 uM for acetyl-CoA {ECO:0000269|PubMed:27389534}; KM=2.29 uM for spermidine {ECO:0000269|PubMed:27389534};
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated in vitro by very low concentrations of spermidine, but inhibited at spermidine concentrations higher than 4 uM. The activating effect of low spermidine concentrations may be mediated by N(8)-acetylspermidine produced by KAT2B/P/CAF itself acting as a positive feedback loop.

Enzyme Numbers (IUBMB) for KAT2B Gene

Phenotypes From GWAS Catalog for KAT2B Gene

Gene Ontology (GO) - Molecular Function for KAT2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IEA --
GO:0003682 chromatin binding IEA,ISS --
GO:0003712 transcription coregulator activity IPI 8684459
GO:0003713 transcription coactivator activity IEA,IDA 12435739
GO:0004145 diamine N-acetyltransferase activity IEA --
genes like me logo Genes that share ontologies with KAT2B: view
genes like me logo Genes that share phenotypes with KAT2B: view

Animal Models for KAT2B Gene

MGI Knock Outs for KAT2B:

Animal Model Products

  • Taconic Biosciences Mouse Models for KAT2B

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KAT2B

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for KAT2B Gene

Localization for KAT2B Gene

Subcellular locations from UniProtKB/Swiss-Prot for KAT2B Gene

Nucleus. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm. Note=Mainly localizes to the nucleus. Also localizes to centrosomes in late G1 and around the G1/S transition, coinciding with the onset of centriole formation. Subcellular location may vary depending upon cell differentiation state. Cytoplasmic at the very stages of keratinocyte differentiation, becomes nuclear at later differentiation stages. Cytoplasmic in basal epithelial cells (undifferentiated cells) and nuclear in parabasal cells (differentiated cells) (PubMed:20940255). {ECO:0000269 PubMed:20940255, ECO:0000269 PubMed:29174768}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KAT2B gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 3
plasma membrane 2
extracellular 2
mitochondrion 2
endoplasmic reticulum 2
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centrosome (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for KAT2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000123 histone acetyltransferase complex IEA --
GO:0000125 PCAF complex NAS 17707232
GO:0000776 kinetochore IEA --
GO:0005634 nucleus TAS,ISS --
GO:0005654 nucleoplasm TAS --
genes like me logo Genes that share ontologies with KAT2B: view

Pathways & Interactions for KAT2B Gene

genes like me logo Genes that share pathways with KAT2B: view

Pathways by source for KAT2B Gene

8 GeneGo (Thomson Reuters) pathways for KAT2B Gene
  • Development Notch Signaling Pathway
  • Development NOTCH1-mediated pathway for NF-KB activity modulation
  • Development Role of HDAC and calcium/calmodulin-dependent kinase (CaMK) in control of skeletal myogenesis
  • Immune response Function of MEF2 in T lymphocytes
  • Transcription Ligand-dependent activation of the ESR1/SP pathway
8 Qiagen pathways for KAT2B Gene
  • AMPK Enzyme Complex Pathway
  • Androgen Signaling
  • Cellular Transformation by HTLV1
  • Crosstalk Between CARM1 and ESRs
  • Glucocorticoid Receptor Signaling
1 Cell Signaling Technology pathway for KAT2B Gene
1 GeneTex pathway for KAT2B Gene

SIGNOR curated interactions for KAT2B Gene

Activates:
Is inactivated by:

Gene Ontology (GO) - Biological Process for KAT2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006338 chromatin remodeling TAS,NAS 10365964
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006367 transcription initiation from RNA polymerase II promoter TAS --
GO:0006473 protein acetylation TAS,IDA 15273251
GO:0007049 cell cycle IEA --
genes like me logo Genes that share ontologies with KAT2B: view

Drugs & Compounds for KAT2B Gene

(23) Drugs for KAT2B Gene - From: DrugBank, PharmGKB, ApexBio, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Amphetamine Approved, Illicit, Investigational Pharma 154
Cocaine Approved, Illicit Pharma 599
(3E)-4-(1-METHYL-1H-INDOL-3-YL)BUT-3-EN-2-ONE Experimental Pharma Target 0
N-(3-AMINOPROPYL)-2-NITROBENZENAMINE Experimental Pharma Target 0
Coenzyme A Investigational Nutra Target 0

(6) Additional Compounds for KAT2B Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
acetyl-coa
  • AcCoA
  • Acetyl coenzyme A
  • S-Acetyl-CoA
  • S-Acetyl-coenzyme A
  • Ac-CoA
72-89-9

(5) ApexBio Compounds for KAT2B Gene

Compound Action Cas Number
Anacardic acid HAT inhibitor 16611-84-0
Donepezil HCl AChE inhibitor 120011-70-3
Garcinol 78824-30-3
MG 149 HAT inhibitor 1243583-85-8
Remodelin 1622921-15-6
genes like me logo Genes that share compounds with KAT2B: view

Drug Products

Transcripts for KAT2B Gene

mRNA/cDNA for KAT2B Gene

1 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KAT2B

Alternative Splicing Database (ASD) splice patterns (SP) for KAT2B Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b · 9c ^ 10a · 10b ^ 11a · 11b ^ 12a · 12b ^ 13a · 13b ^ 14a · 14b ^ 15 ^ 16 ^ 17a · 17b ^ 18
SP1: - - - - -
SP2: -
SP3:
SP4:
SP5:

Relevant External Links for KAT2B Gene

GeneLoc Exon Structure for
KAT2B

Expression for KAT2B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KAT2B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for KAT2B Gene

This gene is overexpressed in Nasal epithelium (52.7) and Cervix (13.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for KAT2B Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KAT2B

SOURCE GeneReport for Unigene cluster for KAT2B Gene:

Hs.533055

mRNA Expression by UniProt/SwissProt for KAT2B Gene:

Q92831-KAT2B_HUMAN
Tissue specificity: Ubiquitously expressed but most abundant in heart and skeletal muscle. Also expressed in the skin, in keratinocytes (at protein level) (PubMed:20940255).

Evidence on tissue expression from TISSUES for KAT2B Gene

  • Liver(4.6)
  • Nervous system(3.9)
  • Muscle(3.2)
  • Heart(3)
  • Skin(2.8)
  • Blood(2.8)
  • Kidney(2.7)
  • Intestine(2.7)
  • Bone marrow(2.5)
  • Lymph node(2.5)
  • Spleen(2.5)
  • Lung(2.4)
  • Thyroid gland(2.3)
  • Pancreas(2.3)
  • Stomach(2.2)
  • Eye(2)
  • Adrenal gland(2)
genes like me logo Genes that share expression patterns with KAT2B: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for KAT2B Gene

Orthologs for KAT2B Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for KAT2B Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia KAT2B 30 31
  • 99.44 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia KAT2B 31
  • 93 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia KAT2B 30 31
  • 90.06 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia KAT2B 30
  • 88.69 (n)
PCAF 31
  • 88 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Kat2b 30 17 31
  • 88.64 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Pcaf 30
  • 88.28 (n)
Oppossum
(Monodelphis domestica)
Mammalia KAT2B 31
  • 88 (a)
OneToOne
Chicken
(Gallus gallus)
Aves KAT2B 30 31
  • 83.08 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia KAT2B 31
  • 90 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia kat2b 30
  • 76.82 (n)
Zebrafish
(Danio rerio)
Actinopterygii kat2b 30 31
  • 73.53 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta Pcaf 31
  • 46 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea pcaf-1 30 31
  • 47.38 (n)
ManyToMany
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AER297C 30
  • 55.16 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GCN5 30 31 33
  • 54.28 (n)
OneToMany
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A05115g 30
  • 52.05 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.5837 31
  • 55 (a)
OneToMany
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes gcn5 30
  • 53.79 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU10847 30
  • 51.82 (n)
Species where no ortholog for KAT2B was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for KAT2B Gene

ENSEMBL:
Gene Tree for KAT2B (if available)
TreeFam:
Gene Tree for KAT2B (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KAT2B: view image

Paralogs for KAT2B Gene

Paralogs for KAT2B Gene

(1) SIMAP similar genes for KAT2B Gene using alignment to 1 proteins:

  • KAT2B_HUMAN

Pseudogenes.org Pseudogenes for KAT2B Gene

genes like me logo Genes that share paralogs with KAT2B: view

Variants for KAT2B Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KAT2B Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
716844 Benign: not provided 20,111,614(+) C/T SYNONYMOUS_VARIANT
782807 Benign: not provided 20,147,980(+) C/A MISSENSE_VARIANT
791913 Benign: not provided 20,147,957(+) G/A INTRON_VARIANT
796321 Likely Benign: not provided 20,095,399(+) T/C SYNONYMOUS_VARIANT
rs1553598537 Uncertain Significance: not provided 20,136,945(+) TA/T FRAMESHIFT_VARIANT

Additional dbSNP identifiers (rs#s) for KAT2B Gene

Structural Variations from Database of Genomic Variants (DGV) for KAT2B Gene

Variant ID Type Subtype PubMed ID
esv23068 CNV gain+loss 19812545
esv2422249 CNV deletion 17116639
esv3434589 CNV insertion 20981092
esv35078 CNV gain 17911159
esv3568636 CNV loss 25503493
esv3595471 CNV loss 21293372
esv3893667 CNV gain 25118596
esv3893669 CNV loss 25118596
nsv1140170 CNV insertion 24896259
nsv1142354 CNV tandem duplication 24896259
nsv1143045 CNV tandem duplication 24896259
nsv237514 CNV deletion 16902084
nsv3719 CNV deletion 18451855
nsv433359 CNV gain 18776910
nsv470450 CNV loss 18288195
nsv834627 CNV loss 17160897
nsv997486 CNV gain 25217958

Variation tolerance for KAT2B Gene

Residual Variation Intolerance Score: 21.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.24; 40.34% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KAT2B Gene

Human Gene Mutation Database (HGMD)
KAT2B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KAT2B

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KAT2B Gene

Disorders for KAT2B Gene

MalaCards: The human disease database

(6) MalaCards diseases for KAT2B Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
holt-oram syndrome
  • hos
spinocerebellar ataxia 7
  • sca7
chromosome 16p13.3 deletion syndrome, proximal
  • rsts
hemangioma of spleen
  • splenic hemangioma
microphthalmia
  • microphthalmos
- elite association - COSMIC cancer census association via MalaCards
Search KAT2B in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

KAT2B_HUMAN
  • Note=Defects in KAT2B has been found in a patient with isolated coloboma, a defect of the eye characterized by the absence of ocular structures due to abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure). Isolated colobomas may be associated with an abnormally small eye (microphthalmia) or small cornea. {ECO:0000269 PubMed:28493397}.

Additional Disease Information for KAT2B

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with KAT2B: view

No data available for Genatlas for KAT2B Gene

Publications for KAT2B Gene

  1. Glucocorticoid-stimulated preadipocyte differentiation is mediated through acetylation of C/EBPbeta by GCN5. (PMID: 17301242) Wiper-Bergeron N … Haché RJ (Proceedings of the National Academy of Sciences of the United States of America 2007) 3 4 23
  2. Histone acetyltransferase-dependent chromatin remodeling and the vascular clock. (PMID: 14645221) Curtis AM … McNamara P (The Journal of biological chemistry 2004) 3 4 23
  3. Differential acetylation of Tat coordinates its interaction with the co-activators cyclin T1 and PCAF. (PMID: 12486002) Brès V … Kiernan RE (The EMBO journal 2002) 3 4 23
  4. Structural basis of lysine-acetylated HIV-1 Tat recognition by PCAF bromodomain. (PMID: 11931765) Mujtaba S … Zhou MM (Molecular cell 2002) 3 4 23
  5. Steroid receptor coactivator-1 is a histone acetyltransferase. (PMID: 9296499) Spencer TE … O'Malley BW (Nature 1997) 3 4 23

Products for KAT2B Gene

Sources for KAT2B Gene