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Aliases for KAT6B Gene

Aliases for KAT6B Gene

  • Lysine Acetyltransferase 6B 2 3 5
  • MYST Histone Acetyltransferase (Monocytic Leukemia) 4 2 3
  • Monocytic Leukemia Zinc Finger Protein-Related Factor 3 4
  • MOZ, YBF2/SAS3, SAS2 And TIP60 Protein 4 3 4
  • K(Lysine) Acetyltransferase 6B 2 3
  • Histone Acetyltransferase MOZ2 3 4
  • MOZ-Related Factor 2 3
  • MYST-4 3 4
  • MYST4 3 4
  • MORF 3 4
  • MOZ2 3 4
  • Histone Acetyltransferase KAT6B 3
  • Histone Acetyltransferase MYST4 3
  • Histone Acetyltransferase MORF 3
  • EC 2.3.1.48 4
  • Querkopf 3
  • KIAA0383 4
  • ZC2HC6B 3
  • GTPTS 3
  • Qkf 3

External Ids for KAT6B Gene

Previous HGNC Symbols for KAT6B Gene

  • MYST4

Previous GeneCards Identifiers for KAT6B Gene

  • GC10P076586

Summaries for KAT6B Gene

Entrez Gene Summary for KAT6B Gene

  • The protein encoded by this gene is a histone acetyltransferase and component of the MOZ/MORF protein complex. In addition to its acetyltransferase activity, the encoded protein has transcriptional activation activity in its N-terminal end and transcriptional repression activity in its C-terminal end. This protein is necessary for RUNX2-dependent transcriptional activation and could be involved in brain development. Mutations have been found in patients with genitopatellar syndrome. A translocation of this gene and the CREBBP gene results in acute myeloid leukemias. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2012]

GeneCards Summary for KAT6B Gene

KAT6B (Lysine Acetyltransferase 6B) is a Protein Coding gene. Diseases associated with KAT6B include Sbbyss Syndrome and Genitopatellar Syndrome. Among its related pathways are Chromatin organization. GO annotations related to this gene include transcription factor binding and transferase activity, transferring acyl groups other than amino-acyl groups. An important paralog of this gene is KAT6A.

UniProtKB/Swiss-Prot for KAT6B Gene

  • Histone acetyltransferase which may be involved in both positive and negative regulation of transcription. Required for RUNX2-dependent transcriptional activation. May be involved in cerebral cortex development. Component of the MOZ/MORF complex which has a histone H3 acetyltransferase activity.

Gene Wiki entry for KAT6B Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KAT6B Gene

Genomics for KAT6B Gene

Regulatory Elements for KAT6B Gene

Enhancers for KAT6B Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH10F075394 1.6 VISTA FANTOM5 ENCODE 52.3 +577.6 577572 15.2 PKNOX1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF143 FOS ZNF263 KAT6B C10orf11 LOC101929234 ENSG00000234149 LOC102723439 ENSG00000236842 ZNF503 PIR36955
GH10F074823 1.1 ENCODE 43.2 +0.9 877 5.1 HDGF PKNOX1 ARNT CREB3L1 MLX ARID4B SIN3A FEZF1 DMAP1 YBX1 AP3M1 KAT6B ENSG00000234149 LOC102723439 LOC101929165
GH10F075468 1 Ensembl ENCODE 34.5 +644.5 644474 2.0 TBP PKNOX1 INSM2 FEZF1 ZEB1 RFX5 ZNF366 SCRT2 ZNF416 RCOR1 KAT6B C10orf11 ENSG00000236842 GC10P075464 GC10P075560
GH10F075107 1.1 ENCODE 33 +285.6 285603 5.5 HDGF PKNOX1 ARNT CREB3L1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 SLC30A9 KAT6B DUSP13 ENSG00000234149 LOC102723439 AP3M1 PPIAP13 RPS26P42
GH10F074149 0.8 ENCODE 26 -673.7 -673710 3.2 HDGF PKNOX1 ARNT WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 KAT6B ADK DNAJC9 GLUD1P3 DUSP8P5 CAMK2G ECD ENSG00000272791 GC10P074285
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around KAT6B on UCSC Golden Path with GeneCards custom track

Promoters for KAT6B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000357256 1373 3401 HDGF PKNOX1 ARNT CREB3L1 MLX SIN3A FEZF1 DMAP1 YBX1 ZNF2

Genomic Location for KAT6B Gene

Chromosome:
10
Start:
74,824,927 bp from pter
End:
75,032,623 bp from pter
Size:
207,697 bases
Orientation:
Plus strand

Genomic View for KAT6B Gene

Genes around KAT6B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KAT6B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KAT6B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KAT6B Gene

Proteins for KAT6B Gene

  • Protein details for KAT6B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WYB5-KAT6B_HUMAN
    Recommended name:
    Histone acetyltransferase KAT6B
    Protein Accession:
    Q8WYB5
    Secondary Accessions:
    • O15087
    • Q86Y05
    • Q8WU81
    • Q9UKW2
    • Q9UKW3
    • Q9UKX0

    Protein attributes for KAT6B Gene

    Size:
    2073 amino acids
    Molecular mass:
    231378 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 and RUNX2.
    SequenceCaution:
    • Sequence=AAF00100.1; Type=Frameshift; Positions=550, 562; Evidence={ECO:0000305}; Sequence=AAH14143.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=AAH48199.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};

    Alternative splice isoforms for KAT6B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KAT6B Gene

Post-translational modifications for KAT6B Gene

  • Autoacetylated (PubMed:10497217 and PubMed:11965546). Autoacetylation at Lys-815 is required for proper function.
  • Ubiquitination at Lys 785
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for KAT6B Gene

Domains & Families for KAT6B Gene

Graphical View of Domain Structure for InterPro Entry

Q8WYB5

UniProtKB/Swiss-Prot:

KAT6B_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.
  • Contains 1 C2HC MYST-type zinc finger.
Domain:
  • The N-terminus is involved in transcriptional activation while the C-terminus is involved in transcriptional repression.
  • Contains 1 H15 (linker histone H1/H5 globular) domain.
  • Contains 1 MYST-type HAT (histone acetyltransferase) domain.
Family:
  • Belongs to the MYST (SAS/MOZ) family.
Similarity:
  • Contains 1 C2HC MYST-type zinc finger.
  • Contains 2 PHD-type zinc fingers.
genes like me logo Genes that share domains with KAT6B: view

Function for KAT6B Gene

Molecular function for KAT6B Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Acetyl-CoA + [histone] = CoA + acetyl-[histone].
UniProtKB/Swiss-Prot Function:
Histone acetyltransferase which may be involved in both positive and negative regulation of transcription. Required for RUNX2-dependent transcriptional activation. May be involved in cerebral cortex development. Component of the MOZ/MORF complex which has a histone H3 acetyltransferase activity.

Enzyme Numbers (IUBMB) for KAT6B Gene

Gene Ontology (GO) - Molecular Function for KAT6B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0004402 histone acetyltransferase activity IEA,IDA 10497217
GO:0005515 protein binding IPI 11965546
GO:0008134 transcription factor binding IDA 11965546
GO:0008270 zinc ion binding IEA --
genes like me logo Genes that share ontologies with KAT6B: view
genes like me logo Genes that share phenotypes with KAT6B: view

Human Phenotype Ontology for KAT6B Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for KAT6B Gene

Localization for KAT6B Gene

Subcellular locations from UniProtKB/Swiss-Prot for KAT6B Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KAT6B Gene COMPARTMENTS Subcellular localization image for KAT6B gene
Compartment Confidence
nucleus 5
cytosol 2
chloroplast 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for KAT6B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000786 nucleosome NAS 10497217
GO:0005634 nucleus TAS 10497217
GO:0005654 nucleoplasm TAS --
GO:0070776 MOZ/MORF histone acetyltransferase complex IDA 16387653
genes like me logo Genes that share ontologies with KAT6B: view

Pathways & Interactions for KAT6B Gene

genes like me logo Genes that share pathways with KAT6B: view

Pathways by source for KAT6B Gene

1 GeneTex pathway for KAT6B Gene

SIGNOR curated interactions for KAT6B Gene

Activates:

Gene Ontology (GO) - Biological Process for KAT6B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006334 nucleosome assembly NAS 10497217
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated NAS 10497217
GO:0016569 covalent chromatin modification IEA --
GO:0016573 histone acetylation IDA 11965546
genes like me logo Genes that share ontologies with KAT6B: view

Drugs & Compounds for KAT6B Gene

(5) Drugs for KAT6B Gene - From: ApexBio, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Donepezil HCl Pharma AChE inhibitor 0
MG 149 Pharma HAT inhibitor 0
Remodelin Pharma 0
Coenzyme A Nutra 0

(1) Additional Compounds for KAT6B Gene - From: HMDB

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

(3) ApexBio Compounds for KAT6B Gene

Compound Action Cas Number
Donepezil HCl AChE inhibitor 120011-70-3
MG 149 HAT inhibitor 1243583-85-8
Remodelin 1622921-15-6
genes like me logo Genes that share compounds with KAT6B: view

Transcripts for KAT6B Gene

Unigene Clusters for KAT6B Gene

K(lysine) acetyltransferase 6B:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for KAT6B Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c · 7d ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16a · 16b ^ 17 ^ 18a ·
SP1:
SP2: -
SP3: - - - - -
SP4: - - - - -
SP5:
SP6:
SP7: - - - -
SP8: - - -
SP9:
SP10:
SP11: -
SP12: - -
SP13:
SP14: - -

ExUns: 18b ^ 19 ^ 20 ^ 21 ^ 22
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:

Relevant External Links for KAT6B Gene

GeneLoc Exon Structure for
KAT6B
ECgene alternative splicing isoforms for
KAT6B

Expression for KAT6B Gene

mRNA expression in normal human tissues for KAT6B Gene

Protein differential expression in normal tissues from HIPED for KAT6B Gene

This gene is overexpressed in Plasma (43.8) and Urine (10.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for KAT6B Gene



Protein tissue co-expression partners for KAT6B Gene

NURSA nuclear receptor signaling pathways regulating expression of KAT6B Gene:

KAT6B

SOURCE GeneReport for Unigene cluster for KAT6B Gene:

Hs.35758

mRNA Expression by UniProt/SwissProt for KAT6B Gene:

Q8WYB5-KAT6B_HUMAN
Tissue specificity: Ubiquitously expressed, with high levels in heart, pancreas, testis and ovary.
genes like me logo Genes that share expression patterns with KAT6B: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for KAT6B Gene

Orthologs for KAT6B Gene

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

Orthologs for KAT6B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KAT6B 34 35
  • 99.32 (n)
cow
(Bos Taurus)
Mammalia KAT6B 34 35
  • 93.72 (n)
dog
(Canis familiaris)
Mammalia KAT6B 34 35
  • 93.24 (n)
mouse
(Mus musculus)
Mammalia Kat6b 35
  • 91 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KAT6B 35
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KAT6B 35
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves KAT6B 34 35
  • 81.14 (n)
lizard
(Anolis carolinensis)
Reptilia KAT6B 35
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kat6a 34
  • 60.8 (n)
zebrafish
(Danio rerio)
Actinopterygii kat6b 34 35
  • 67.92 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7073 34
fruit fly
(Drosophila melanogaster)
Insecta enok 35
  • 22 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea lsy-12 35
  • 23 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ESA1 35
  • 39 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 76 (a)
OneToMany
Species where no ortholog for KAT6B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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 KAT6B Gene

ENSEMBL:
Gene Tree for KAT6B (if available)
TreeFam:
Gene Tree for KAT6B (if available)

Paralogs for KAT6B Gene

Paralogs for KAT6B Gene

(9) SIMAP similar genes for KAT6B Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with KAT6B: view

Variants for KAT6B Gene

Sequence variations from dbSNP and Humsavar for KAT6B Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
VAR_036361 A breast cancer sample
rs199470468 Pathogenic 75,021,282(+) GAGAA(-/A)GAGGT reference, frameshift-variant
rs199470469 Pathogenic 75,028,504(+) TGATG(-/ATTCAAGTAACTTGAA)AGAAG intron-variant, reference, frameshift-variant
rs199470470 Pathogenic 75,028,593(+) GTCTA(-/TCTA)AGTGG intron-variant, reference, frameshift-variant
rs199470472 Pathogenic 75,028,612(+) AAACA(-/AA)GAGAG intron-variant, reference, frameshift-variant

Structural Variations from Database of Genomic Variants (DGV) for KAT6B Gene

Variant ID Type Subtype PubMed ID
dgv926n100 CNV gain 25217958
dgv927n100 CNV gain 25217958
esv21440 CNV loss 19812545
esv2674315 CNV deletion 23128226
esv2674729 CNV deletion 23128226
esv3623843 CNV loss 21293372
esv3623844 CNV loss 21293372
esv3623845 CNV loss 21293372
nsv1134028 CNV deletion 24896259
nsv478674 CNV novel sequence insertion 20440878
nsv479641 CNV novel sequence insertion 20440878
nsv551535 CNV loss 21841781
nsv551536 CNV loss 21841781
nsv7176 CNV deletion 18451855

Variation tolerance for KAT6B Gene

Residual Variation Intolerance Score: 0.476% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.04; 60.53% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KAT6B Gene

Human Gene Mutation Database (HGMD)
KAT6B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KAT6B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KAT6B Gene

Disorders for KAT6B Gene

MalaCards: The human disease database

(15) MalaCards diseases for KAT6B Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
sbbyss syndrome
  • ohdo syndrome, sbbys variant
genitopatellar syndrome
  • gray platelet syndrome
say-barber-biesecker variant of ohdo syndrome
  • ohdo/sbbys syndrome
blepharophimosis intellectual disability syndromes
  • ohdo syndrome
kat6b-related disorders
- elite association - COSMIC cancer census association via MalaCards
Search KAT6B in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

KAT6B_HUMAN
  • Genitopatellar syndrome (GTPTS) [MIM:606170]: A rare disorder consisting of microcephaly, severe psychomotor retardation, and characteristic coarse facial features, including broad nose and small or retracted chin, associated with congenital flexion contractures of the lower extremities, abnormal or missing patellae, and urogenital anomalies. {ECO:0000269 PubMed:22265014}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=A chromosomal aberration involving KAT6B may be a cause acute myeloid leukemias. Translocation t(10;16)(q22;p13) with CREBBP. {ECO:0000269 PubMed:11157802}.
  • Ohdo syndrome, SBBYS variant (SBBYSS) [MIM:603736]: A syndrome characterized by distinctive facial appearance with severe blepharophimosis, an immobile mask-like face, a bulbous nasal tip, and a small mouth with a thin upper lip. The condition presents in infancy with severe hypotonia and feeding problems. Associated skeletal problems include joint laxity, abnormally long thumbs and great toes, and dislocated or hypoplastic patellae. Structural cardiac defects are present in around 50% of cases, and dental anomalies, including small and pointed teeth, are common. Optic atrophy and conductive or sensorineural deafness are repeatedly reported. Many affected individuals have abnormalities of thyroid structure or function. SBBYSS is usually associated with severe mental retardation, delayed motor milestones, and significantly impaired speech. {ECO:0000269 PubMed:22077973}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for KAT6B

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KAT6B
genes like me logo Genes that share disorders with KAT6B: view

No data available for Genatlas for KAT6B Gene

Publications for KAT6B Gene

  1. Identification of a human histone acetyltransferase related to monocytic leukemia zinc finger protein. (PMID: 10497217) Champagne N. … Yang X.-J. (J. Biol. Chem. 1999) 2 3 4 22 64
  2. MOZ and MORF histone acetyltransferases interact with the Runt-domain transcription factor Runx2. (PMID: 11965546) Pelletier N. … Yang X.-J. (Oncogene 2002) 3 4 22 64
  3. Fusion of the MORF and CBP genes in acute myeloid leukemia with the t(10;16)(q22;p13). (PMID: 11157802) Panagopoulos I. … Johansson B. (Hum. Mol. Genet. 2001) 3 4 22 64
  4. Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PMID: 9205841) Nagase T. … Ohara O. (DNA Res. 1997) 2 3 4 64
  5. Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome. (PMID: 22265014) Campeau P.M. … Lee B.H. (Am. J. Hum. Genet. 2012) 3 4 64

Products for KAT6B Gene

Sources for KAT6B Gene

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