This gene encodes a member of the MOZ, YBFR2, SAS2, TIP60 family of histone acetyltransferases. The protein is composed of a nuclear localization domain, a double C2H2 zinc finger domain that binds to acetylated histone tails, a histone acetyl-transferase domain, a glutamate/aspartate-rich region, and a serine- and methionine-rich transactivation domain. It is part of a complex... See more...

Aliases for KAT6A Gene

Aliases for KAT6A Gene

  • Lysine Acetyltransferase 6A 2 3 5
  • Monocytic Leukemia Zinc Finger Protein 2 3 4
  • MOZ 2 3 4
  • MYST Histone Acetyltransferase (Monocytic Leukemia) 3 2 3
  • Runt-Related Transcription Factor Binding Protein 2 2 3
  • MOZ, YBF2/SAS3, SAS2 And TIP60 Protein 3 3 4
  • Histone Acetyltransferase KAT6A 3 4
  • K(Lysine) Acetyltransferase 6A 2 3
  • Zinc Finger Protein 220 3 4
  • RUNXBP2 3 4
  • ZC2HC6A 2 3
  • MYST-3 3 4
  • ZNF220 3 4
  • MYST3 3 4
  • Runt-Related Transcription Factor-Binding Protein 2 4
  • Histone Acetyltransferase MYST3 3
  • EC 2.3.1.48 4
  • ARTHS 3
  • MRD32 3
  • KAT6A 5

External Ids for KAT6A Gene

Previous HGNC Symbols for KAT6A Gene

  • ZNF220
  • RUNXBP2
  • MYST3

Previous GeneCards Identifiers for KAT6A Gene

  • GC08M041786

Summaries for KAT6A Gene

Entrez Gene Summary for KAT6A Gene

  • This gene encodes a member of the MOZ, YBFR2, SAS2, TIP60 family of histone acetyltransferases. The protein is composed of a nuclear localization domain, a double C2H2 zinc finger domain that binds to acetylated histone tails, a histone acetyl-transferase domain, a glutamate/aspartate-rich region, and a serine- and methionine-rich transactivation domain. It is part of a complex that acetylates lysine-9 residues in histone 3, and in addition, it acts as a co-activator for several transcription factors. Allelic variants of this gene are associated with an autosomal dominant form of cognitive disability. Chromosomal translocations of this gene are associated with acute myeloid leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2017]

GeneCards Summary for KAT6A Gene

KAT6A (Lysine Acetyltransferase 6A) is a Protein Coding gene. Diseases associated with KAT6A include Arboleda-Tham Syndrome and Syndromic Intellectual Disability. Among its related pathways are Chromatin organization and Pathways Affected in Adenoid Cystic Carcinoma. Gene Ontology (GO) annotations related to this gene include chromatin binding and transcription coactivator activity. An important paralog of this gene is KAT6B.

UniProtKB/Swiss-Prot Summary for KAT6A Gene

  • Histone acetyltransferase that acetylates lysine residues in histone H3 and histone H4 (in vitro). Component of the MOZ/MORF complex which has a histone H3 acetyltransferase activity. May act as a transcriptional coactivator for RUNX1 and RUNX2. Acetylates p53/TP53 at 'Lys-120' and 'Lys-382' and controls its transcriptional activity via association with PML.

Gene Wiki entry for KAT6A Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KAT6A Gene

Genomics for KAT6A Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for KAT6A 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
GH08J042050 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 269.8 +0.7 693 3.8 BCLAF1 SP1 ZNF207 MYC NCOR1 IKZF1 ZNF600 JUND ZNF580 ZMYM3 KAT6A LOC105379393 lnc-AP3M2-3 ENSG00000254165 IKBKB AP3M2 PLAT GPAT4 POLB ENSG00000238966
GH08J042205 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 250.1 -155.5 -155503 5.8 NCOR1 ZNF600 IKZF1 JUND ATF2 ZIC2 NFIC FEZF1 ZNF639 ZNF341 PLAT HSALNG0064871-001 HSALNG0064871-002 KAT6A POLB HGSNAT lnc-KAT6A-3 AP3M2 RF00017-6451 RF00017-6450
GH08J041577 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 14.8 +473.4 473393 2.8 ZNF207 MYC ZNF600 IKZF1 JUND ZNF592 POLR2A ZNF10 NONO CTCF GPAT4 ENSG00000253133 GPAT4-AS1 lnc-GPAT4-2 IKBKB KAT6A ENSG00000254165 NKX6-3 GOLGA7 piR-50399-029
GH08J042269 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 10.6 -219.1 -219113 3 SP1 MYC ZNF600 ATF2 POLR2A BRCA1 ZIC2 NONO CTCF KLF11 IKBKB ENSG00000253408 HSALNG0064876 HSALNG0064877 IKBKB-DT POLB KAT6A ENSG00000254165 RF00017-6450
GH08J041791 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.6 +256.2 256226 9.5 ZNF207 NCOR1 MYC IKZF1 ZNF600 JUND ZNF580 ZNF592 ZMYM3 ZNF223 ANK1 LOC105379392 lnc-KAT6A-4 ENSG00000254165 IKBKB KAT6A NKX6-3 lnc-GPAT4-5 piR-50444-451
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KAT6A on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KAT6A

Genomic Locations for KAT6A Gene

Latest Assembly
chr8:41,929,479-42,051,994
(GRCh38/hg38)
Size:
122,516 bases
Orientation:
Minus strand

Previous Assembly
chr8:41,786,997-41,909,505
(GRCh37/hg19 by Entrez Gene)
Size:
122,509 bases
Orientation:
Minus strand

chr8:41,786,997-41,909,508
(GRCh37/hg19 by Ensembl)
Size:
122,512 bases
Orientation:
Minus strand

Genomic View for KAT6A Gene

Genes around KAT6A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KAT6A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KAT6A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KAT6A Gene

Proteins for KAT6A Gene

  • Protein details for KAT6A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92794-KAT6A_HUMAN
    Recommended name:
    Histone acetyltransferase KAT6A
    Protein Accession:
    Q92794
    Secondary Accessions:
    • Q76L81

    Protein attributes for KAT6A Gene

    Size:
    2004 amino acids
    Molecular mass:
    225028 Da
    Quaternary structure:
    • Component of the MOZ/MORF complex composed at least of ING5, KAT6A, KAT6B, MEAF6 and one of BRPF1, BRD1/BRPF2 and BRPF3. Interacts with RUNX1; phosphorylation of RUNX1 enhances the interaction. Interacts with RUNX2. Interacts with p53/TP53. Interacts with PML (isoform PML-4) and this interaction positively regulates its acetylation activity towards p53/TP53.

    Three dimensional structures from OCA and Proteopedia for KAT6A Gene

neXtProt entry for KAT6A Gene

Post-translational modifications for KAT6A Gene

  • Autoacetylation at Lys-604 is required for proper function (By similarity). Autoacetylated.
  • Phosphorylation at Thr-369 by PKB/AKT1 inhibits its interaction with PML and negatively regulates its acetylation activity towards p53/TP53.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for KAT6A Gene

Domains & Families for KAT6A Gene

Gene Families for KAT6A Gene

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

Protein Domains for KAT6A Gene

InterPro:
Blocks:
  • Histone H1/H5
  • Zn-finger, RING
  • Zn-finger-like, PHD finger
  • MOZ/SAS-like protein

Suggested Antigen Peptide Sequences for KAT6A Gene

GenScript: Design optimal peptide antigens:
  • MYST3 protein (A5PKX7_HUMAN)
  • Zinc finger protein 220 (MYST3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q92794

UniProtKB/Swiss-Prot:

KAT6A_HUMAN :
  • The N-terminus is involved in transcriptional activation while the C-terminus is involved in transcriptional repression.
  • Belongs to the MYST (SAS/MOZ) family.
Domain:
  • The N-terminus is involved in transcriptional activation while the C-terminus is involved in transcriptional repression.
Family:
  • Belongs to the MYST (SAS/MOZ) family.
genes like me logo Genes that share domains with KAT6A: view

Function for KAT6A Gene

Molecular function for KAT6A Gene

UniProtKB/Swiss-Prot Function:
Histone acetyltransferase that acetylates lysine residues in histone H3 and histone H4 (in vitro). Component of the MOZ/MORF complex which has a histone H3 acetyltransferase activity. May act as a transcriptional coactivator for RUNX1 and RUNX2. Acetylates p53/TP53 at 'Lys-120' and 'Lys-382' and controls its transcriptional activity via association with PML.
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:11313971, ECO:0000269|PubMed:11742995, ECO:0000269|PubMed:17925393};.

Enzyme Numbers (IUBMB) for KAT6A Gene

Phenotypes From GWAS Catalog for KAT6A Gene

Gene Ontology (GO) - Molecular Function for KAT6A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA,IDA 17925393
GO:0003712 transcription coregulator activity IBA 21873635
GO:0003713 transcription coactivator activity IEA,TAS 18794358
GO:0004402 histone acetyltransferase activity IEA,IDA 11742995
GO:0005515 protein binding IPI 11742995
genes like me logo Genes that share ontologies with KAT6A: view
genes like me logo Genes that share phenotypes with KAT6A: view

Human Phenotype Ontology for KAT6A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for KAT6A Gene

MGI Knock Outs for KAT6A:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KAT6A

No data available for Transcription Factor Targets and HOMER Transcription for KAT6A Gene

Localization for KAT6A Gene

Subcellular locations from UniProtKB/Swiss-Prot for KAT6A Gene

Nucleus. Nucleus, nucleolus. Nucleus, nucleoplasm. Nucleus, PML body. Note=Recruited into PML body after DNA damage.

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 KAT6A gene
Compartment Confidence
nucleus 5
cytosol 4
plasma membrane 2
cytoskeleton 2
mitochondrion 2
golgi apparatus 2
extracellular 1
peroxisome 1
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nuclear speckles (2)
  • Nucleoli (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for KAT6A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin IBA --
GO:0000786 nucleosome IEA --
GO:0005634 nucleus IEA,IDA 11742995
GO:0005654 nucleoplasm TAS --
GO:0005730 nucleolus IEA,IDA --
genes like me logo Genes that share ontologies with KAT6A: view

Pathways & Interactions for KAT6A Gene

genes like me logo Genes that share pathways with KAT6A: view

Pathways by source for KAT6A Gene

1 Qiagen pathway for KAT6A Gene
  • Transcriptional Regulatory Network in Embryonic Stem Cell
1 GeneTex pathway for KAT6A Gene

SIGNOR curated interactions for KAT6A Gene

Activates:

Gene Ontology (GO) - Biological Process for KAT6A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006323 DNA packaging TAS 8782817
GO:0006325 chromatin organization IEA --
GO:0006334 nucleosome assembly IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006473 protein acetylation IDA 23431171
genes like me logo Genes that share ontologies with KAT6A: view

Drugs & Compounds for KAT6A Gene

(2) Drugs for KAT6A Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Coenzyme A Investigational Nutra 0

(1) Additional Compounds for KAT6A Gene - From: 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
genes like me logo Genes that share compounds with KAT6A: view

Transcripts for KAT6A Gene

mRNA/cDNA for KAT6A Gene

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KAT6A

Alternative Splicing Database (ASD) splice patterns (SP) for KAT6A Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b
SP1: - - - -
SP2:
SP3:
SP4: -
SP5:

Relevant External Links for KAT6A Gene

GeneLoc Exon Structure for
KAT6A

Expression for KAT6A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KAT6A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for KAT6A Gene

This gene is overexpressed in Lung (18.4), Peripheral blood mononuclear cells (13.3), Blymphocyte (7.5), Heart (7.4), and Neutrophil (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for KAT6A Gene



Protein tissue co-expression partners for KAT6A Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KAT6A

SOURCE GeneReport for Unigene cluster for KAT6A Gene:

Hs.491577

Evidence on tissue expression from TISSUES for KAT6A Gene

  • Bone marrow(4.5)
  • Liver(4.5)
  • Nervous system(2.9)
  • Spleen(2.5)
  • Blood(2.4)
  • Skin(2.4)
  • Kidney(2.4)
  • Muscle(2.4)
  • Intestine(2.3)
  • Heart(2.3)
  • Lung(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for KAT6A Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • nose
  • outer ear
  • skull
  • tooth
Thorax:
  • heart
  • heart valve
  • lung
General:
  • blood
  • blood vessel
  • peripheral nervous system
  • skin
genes like me logo Genes that share expression patterns with KAT6A: view

Primer products for research

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for KAT6A Gene

Orthologs for KAT6A Gene

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

Orthologs for KAT6A Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia KAT6A 30
  • 100 (a)
OneToOne
MYST3 29
  • 99.64 (n)
Dog
(Canis familiaris)
Mammalia KAT6A 29 30
  • 91.34 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia KAT6A 30
  • 89 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia KAT6A 30
  • 88 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia KAT6A 29 30
  • 86.72 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Kat6a 29
  • 85.8 (n)
Mouse
(Mus musculus)
Mammalia Kat6a 29 16 30
  • 85.28 (n)
OneToOne
Chicken
(Gallus gallus)
Aves KAT6A 29 30
  • 78.56 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia KAT6A 30
  • 79 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii kat6a 30
  • 53 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta enok 30
  • 23 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea lsy-12 30
  • 25 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ESA1 30
  • 38 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 73 (a)
OneToMany
Species where no ortholog for KAT6A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • 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)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • 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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)

Evolution for KAT6A Gene

ENSEMBL:
Gene Tree for KAT6A (if available)
TreeFam:
Gene Tree for KAT6A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KAT6A: view image
Alliance of Genome Resources:
Additional Orthologs for KAT6A

Paralogs for KAT6A Gene

Paralogs for KAT6A Gene

(10) SIMAP similar genes for KAT6A Gene using alignment to 3 proteins:

  • KAT6A_HUMAN
  • C9JJY6_HUMAN
  • C9K0F9_HUMAN
genes like me logo Genes that share paralogs with KAT6A: view

Variants for KAT6A Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KAT6A Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
1013576 Uncertain Significance: not provided 41,932,950(-) T/C
NM_006766.5(KAT6A):c.5270A>G (p.Gln1757Arg)
MISSENSE
1013577 Uncertain Significance: not provided 41,933,800(-) A/T
NM_006766.5(KAT6A):c.4420T>A (p.Cys1474Ser)
MISSENSE
1013578 Uncertain Significance: not provided 41,934,735(-) T/A
NM_006766.5(KAT6A):c.3485A>T (p.His1162Leu)
MISSENSE
1013743 Uncertain Significance: not provided 41,987,566(-) G/A
NM_006766.5(KAT6A):c.601-3C>T
INTRON
1028553 Uncertain Significance: Mental retardation, autosomal dominant 32 41,941,090(-) C/T
NM_006766.5(KAT6A):c.2791G>A (p.Gly931Arg)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for KAT6A Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for KAT6A Gene

Variant ID Type Subtype PubMed ID
esv2445048 CNV deletion 19546169
esv2659867 CNV deletion 23128226
esv3616996 CNV loss 21293372
esv3616998 CNV loss 21293372
nsv1025206 CNV gain 25217958
nsv1031012 CNV loss 25217958
nsv1112962 CNV deletion 24896259
nsv521189 CNV loss 19592680
nsv824615 CNV gain 20364138
nsv831300 CNV loss 17160897
nsv951132 CNV duplication 24416366

Variation tolerance for KAT6A Gene

Residual Variation Intolerance Score: 2.69% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.94; 79.75% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KAT6A Gene

Human Gene Mutation Database (HGMD)
KAT6A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KAT6A
Leiden Open Variation Database (LOVD)
KAT6A

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KAT6A Gene

Disorders for KAT6A Gene

MalaCards: The human disease database

(20) MalaCards diseases for KAT6A Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search KAT6A in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

KAT6A_HUMAN
  • Note=Chromosomal aberrations involving KAT6A may be a cause of acute myeloid leukemias. Translocation t(8;16)(p11;p13) with CREBBP (PubMed:8782817). Translocation t(8;22)(p11;q13) with EP300 (PubMed:10824998). KAT6A-CREBBP may induce leukemia by inhibiting RUNX1-mediated transcription (PubMed:11742995). Inversion inv(8)(p11;q13) generates the KAT6A-NCOA2 oncogene, which consists of the N-terminal part of KAT6A and the C-terminal part of NCOA2/TIF2. KAT6A-NCOA2 binds to CREBBP and disrupts its function in transcription activation (PubMed:12676584). {ECO:0000269 PubMed:10824998, ECO:0000269 PubMed:11742995, ECO:0000269 PubMed:12676584, ECO:0000269 PubMed:8782817}.
  • Note=A chromosomal aberration involving KAT6A is a cause of therapy-related myelodysplastic syndrome. Translocation t(2;8)(p23;p11.2) with ASXL2 generates a KAT6A-ASXL2 fusion protein. {ECO:0000269 Ref.3}.
  • Arboleda-Tham syndrome (ARTHS) [MIM:616268]: An autosomal dominant disorder characterized by intellectual disability, dysmorphic facial features, delayed psychomotor development, and lack of speech. {ECO:0000269 PubMed:25728775, ECO:0000269 PubMed:25728777}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for KAT6A

genes like me logo Genes that share disorders with KAT6A: view

No data available for Genatlas for KAT6A Gene

Publications for KAT6A Gene

  1. The translocation t(8;16)(p11;p13) of acute myeloid leukaemia fuses a putative acetyltransferase to the CREB-binding protein. (PMID: 8782817) Borrow J … Housman DE (Nature genetics 1996) 2 3 4 22
  2. Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features. (PMID: 25728777) Tham E … Nordgren A (American journal of human genetics 2015) 3 4 72
  3. De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay. (PMID: 25728775) Arboleda VA … Nelson SF (American journal of human genetics 2015) 3 4 72
  4. Transcriptional regulation of the human MIP-1alpha promoter by RUNX1 and MOZ. (PMID: 12771199) Bristow CA … Shore P (Nucleic acids research 2003) 3 4 22
  5. MOZ and MORF histone acetyltransferases interact with the Runt-domain transcription factor Runx2. (PMID: 11965546) Pelletier N … Yang XJ (Oncogene 2002) 3 4 22

Products for KAT6A Gene

Sources for KAT6A Gene