Human Gene KAT6B (ENST00000650434.1) Description and Page Index
  Description: lysine acetyltransferase 6B (from HGNC KAT6B)
RefSeq Summary (NM_001370133): 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]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1968189 [ECO:0000350] ##Evidence-Data-END##
Gencode Transcript: ENST00000650434.1
Gencode Gene: ENSG00000156650.14
Transcript (Including UTRs)
   Position: hg38 chr10:74,825,568-74,844,982 Size: 19,415 Total Exon Count: 2 Strand: +
Coding Region
   Position: hg38 chr10:74,842,858-74,843,544 Size: 687 Coding Exon Count: 1 

Page IndexSequence and LinksMalaCardsCTDRNA-Seq ExpressionMicroarray Expression
RNA StructureOther SpeciesmRNA DescriptionsOther NamesGeneReviewsMethods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr10:74,825,568-74,844,982)mRNA (may differ from genome)Protein (228 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
MGImyGene2PubMedStanford SOURCEUniProtKBWikipedia

-  MalaCards Disease Associations
  MalaCards Gene Search: KAT6B
Diseases sorted by gene-association score: genitopatellar syndrome* (1289), sbbyss syndrome* (1269), say-barber-biesecker variant of ohdo syndrome* (419), blepharophimosis intellectual disability syndromes* (400), kat6b-related disorders* (118), noonan syndrome 1* (102), monocytic leukemia (30), ohdo syndrome (26), blepharophimosis (20), adult medulloblastoma (9), eyelid disease (7), rapadilino syndrome (7), conversion disorder (6), shprintzen-goldberg syndrome (6), meier-gorlin syndrome 1 (4)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene
  • D015632 1-Methyl-4-phenyl-1,2,3,6-tetrahydropyridine
  • C532162 2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine
  • C049584 2-amino-1-methyl-6-phenylimidazo(4,5-b)pyridine
  • D015123 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide
  • D016604 Aflatoxin B1
  • D000535 Aluminum
  • D001564 Benzo(a)pyrene
  • D002794 Choline
  • D005492 Folic Acid
  • D005557 Formaldehyde
          more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 6.35 RPKM in Ovary
Total median expression: 188.27 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -101.00365-0.277 Picture PostScript Text
3' UTR -440.801438-0.307 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
Protein SequenceProtein Sequence    

-  Descriptions from all associated GenBank mRNAs
  LF209956 - JP 2014500723-A/17459: Polycomb-Associated Non-Coding RNAs.
MA445533 - JP 2018138019-A/17459: Polycomb-Associated Non-Coding RNAs.
AK074816 - Homo sapiens cDNA FLJ90335 fis, clone NT2RP2002304.
BC014143 - Homo sapiens MYST histone acetyltransferase (monocytic leukemia) 4, mRNA (cDNA clone IMAGE:4761825), partial cds.
BC048199 - Homo sapiens MYST histone acetyltransferase (monocytic leukemia) 4, mRNA (cDNA clone IMAGE:5923112), partial cds.
AF217500 - Homo sapiens histone acetyltransferase MOZ2 (MOZ2) mRNA, complete cds.
BC150618 - Homo sapiens MYST histone acetyltransferase (monocytic leukemia) 4, mRNA (cDNA clone MGC:183528 IMAGE:9056988), complete cds.
AF113514 - Homo sapiens histone acetyltransferase MORF mRNA, complete cds.
AF119230 - Homo sapiens histone acetyltransferase MORF alpha mRNA, alternative splice product, complete cds.
AF119231 - Homo sapiens histone acetyltransferase MORF beta mRNA, alternative splice product, complete cds.
AB383868 - Synthetic construct DNA, clone: pF1KSDA0383, Homo sapiens MYST4 gene for MYST histone acetyltransferase 4, complete cds, without stop codon, in Flexi system.
AB002381 - Homo sapiens mRNA for KIAA0383 gene.
BC150270 - Homo sapiens MYST histone acetyltransferase (monocytic leukemia) 4, mRNA (cDNA clone MGC:166868 IMAGE:9007238), complete cds.
LF333273 - JP 2014500723-A/140776: Polycomb-Associated Non-Coding RNAs.
MA568850 - JP 2018138019-A/140776: Polycomb-Associated Non-Coding RNAs.
LF333274 - JP 2014500723-A/140777: Polycomb-Associated Non-Coding RNAs.
MA568851 - JP 2018138019-A/140777: Polycomb-Associated Non-Coding RNAs.
JD153335 - Sequence 134359 from Patent EP1572962.
JD228845 - Sequence 209869 from Patent EP1572962.
JD259738 - Sequence 240762 from Patent EP1572962.
JD242678 - Sequence 223702 from Patent EP1572962.
JD497877 - Sequence 478901 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: A0A3B3ITP3, BC014143, uc285iam.1
UCSC ID: uc285iam.1
RefSeq Accession: NM_001370133

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene KAT6B:
kat6b-dis (KAT6B Disorders)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.