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KAT6B Gene

protein-coding   GIFtS: 58
GCID: GC10P076586

K(Lysine) Acetyltransferase 6B

(Previous name: MYST histone acetyltransferase (monocytic leukemia) 4)
(Previous symbol: MYST4)
Microbiology & Infectious Diseases Congress
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
K(Lysine) Acetyltransferase 6B1 2     GTPTS2 5
MYST41 2 3 5     ZC2HC6B2
MORF2 3 5     Histone Acetyltransferase KAT6B2
MYST Histone Acetyltransferase (Monocytic Leukemia) 41 2     Histone Acetyltransferase MORF2
MOZ-Related Factor1 2     Histone Acetyltransferase MYST42
Histone Acetyltransferase MOZ22 3     qkf2
Monocytic Leukemia Zinc Finger Protein-Related Factor2 3     querkopf2
MOZ22 3     EC 2.3.1.483
MYST-42 3     KIAA03833
MOZ, YBF2/SAS3, SAS2 And TIP60 Protein 42 3     

External Ids:    HGNC: 175821   Entrez Gene: 235222   Ensembl: ENSG000001566507   OMIM: 6058805   UniProtKB: Q8WYB53   

Export aliases for KAT6B gene to outside databases


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 (K(lysine) acetyltransferase 6B) is a protein-coding gene. Diseases associated with KAT6B include ohdo syndrome, say-barber-biesecker-young-simpson variant, and monocytic leukemia. GO annotations related to this gene include acetyltransferase activity and transcription factor binding. An important paralog of this gene is KAT5.

UniProtKB/Swiss-Prot: KAT6B_HUMAN, Q8WYB5
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

Gene Wiki entry for KAT6B (MYST4) 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000010.11  NT_030059.14  NC_018921.2  
Regulatory elements:
   Search for regulatory transcription factor binding sites for KAT6B
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): KAT6B promoter sequence
   Search Chromatin IP Primers for KAT6B

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KAT6B


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

Entrez Gene cytogenetic band: 10q22.2   Ensembl cytogenetic band:  10q22.2   HGNC cytogenetic band: 10q22.2

KAT6B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KAT6B gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10P076586:  view genomic region     (about GC identifiers)

Start:
76,585,340 bp from pter      End:
76,792,639 bp from pter
Size:
207,300 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: KAT6B_HUMAN, Q8WYB5 (See protein sequence)
Recommended Name: Histone acetyltransferase KAT6B  
Size: 2073 amino acids; 231378 Da
Subunit: 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
Sequence caution: Sequence=AAF00100.1; Type=Frameshift; Positions=550, 562; Sequence=AAH14143.1;
Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; Sequence=AAH48199.1;
Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence;
Secondary accessions: O15087 Q86Y05 Q8WU81 Q9UKW2 Q9UKW3 Q9UKX0
Alternative splicing: 3 isoforms:  Q8WYB5-1   Q8WYB5-2   Q8WYB5-3   

Explore the universe of human proteins at neXtProt for KAT6B: NX_Q8WYB5

Explore proteomics data for KAT6B at MOPED

Post-translational modifications: 

  • Autoacetylated1
  • Autoacetylation at Lys-815 is required for proper function (By similarity)1
  • Ubiquitination2 at Lys440, Lys785
  • Modification sites at PhosphoSitePlus

  • See KAT6B Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001243397.1  NP_001243398.1  NP_036462.2  

    ENSEMBL proteins: 
     ENSP00000361810   ENSP00000361809   ENSP00000287239   ENSP00000361799   ENSP00000361796  
    Reactome Protein details: Q8WYB5

    KAT6B Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ZC2HC: Zinc fingers, C2HC-type containing
    KAT: Chromatin-modifying enzymes / K-acetyltransferases
    PHF: Zinc fingers, PHD-type

    Selected InterPro protein domains (see all 8):
     IPR001965 Znf_PHD
     IPR013083 Znf_RING/FYVE/PHD
     IPR002717 MOZ_SAS
     IPR011991 WHTH_DNA-bd_dom
     IPR016181 Acyl_CoA_acyltransferase

    Graphical View of Domain Structure for InterPro Entry Q8WYB5

    ProtoNet protein and cluster: Q8WYB5

    2 Blocks protein domains:
    IPB002717 MOZ/SAS-like protein
    IPB005818 Histone H1/H5


    UniProtKB/Swiss-Prot: KAT6B_HUMAN, Q8WYB5
    Domain: The N-terminus is involved in transcriptional activation while the C-terminus is involved in
    transcriptional repression
    Similarity: Belongs to the MYST (SAS/MOZ) family
    Similarity: Contains 1 C2HC-type zinc finger
    Similarity: Contains 1 H15 (linker histone H1/H5 globular) domain
    Similarity: Contains 2 PHD-type zinc fingers


    KAT6B 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, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: KAT6B_HUMAN, Q8WYB5
    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
    Catalytic activity: Acetyl-CoA + [histone] = CoA + acetyl-[histone]

         Enzyme Number (IUBMB): EC 2.3.1.481

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0004402histone acetyltransferase activity IDA10497217
    GO:0005515protein binding IPI11965546
    GO:0008134transcription factor binding IDA11965546
    GO:0008270zinc ion binding IEA--
         
    KAT6B for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for KAT6B:
     Increased cell death HMECs cel  Synthetic lethal with Ras 

         11 MGI mutant phenotypes (inferred from 1 allele(MGI details for Kat6b):
     adipose tissue  cellular  craniofacial  growth/size/body  hearing/vestibular/ear 
     limbs/digits/tail  mortality/aging  muscle  nervous system  skeleton 
     vision/eye 

    KAT6B for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for KAT6B
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    miRNA
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    miRTarBase miRNAs that target KAT6B:
    hsa-mir-1236-3p (MIRT036254), hsa-mir-335-5p (MIRT018713), hsa-mir-340-5p (MIRT019652), hsa-mir-590-3p (MIRT016184)

    Block miRNA regulation of human, mouse, rat KAT6B using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate KAT6B (see all 62):
    hsa-miR-3678-3p hsa-miR-2052 hsa-miR-328 hsa-miR-4307 hsa-miR-300 hsa-miR-938 hsa-miR-200a hsa-let-7a-2*
    SwitchGear 3'UTR luciferase reporter plasmidKAT6B 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat KAT6B

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    KAT6B_HUMAN, Q8WYB5: Nucleus (Probable)

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000786nucleosome NAS10497217
    GO:0005634nucleus TAS10497217
    GO:0005654nucleoplasm TAS--
    GO:0070776MOZ/MORF histone acetyltransferase complex IDA16387653

    KAT6B for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for KAT6B About                                                                                                See pathways by source

    SuperPathContained pathways About
    1RNA Polymerase I Promoter Opening
    HATs acetylate histones0.34
    Chromatin organization0.34
    Chromatin modifying enzymes0.34
    2Selected targets of Oct 3 4
    Selected targets of Oct 3 4

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for KAT6B
        HATs acetylate histones



    KAT6B for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including KAT6B: 
              Epigenetic Chromatin Modification Enzymes in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for KAT6B

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

    Selected Interacting proteins for KAT6B (Q8WYB52, 3 ENSP000002872394) via UniProtKB, MINT, STRING, and/or I2D (see all 74)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATN1P542592, 3, ENSP000003490764MINT-2871114 I2D: score=3 STRING: ENSP00000349076
    RUNX1Q011963, ENSP000003003054I2D: score=2 STRING: ENSP00000300305
    RUNX2Q139503, ENSP000003525144I2D: score=2 STRING: ENSP00000352514
    ING5Q8WYH83, ENSP000003221424I2D: score=1 STRING: ENSP00000322142
    BRD1ENSP000002162674STRING: ENSP00000216267
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006325chromatin organization TAS--
    GO:0006334nucleosome assembly NAS10497217
    GO:0006351transcription, DNA-templated IEA--
    GO:0006355regulation of transcription, DNA-templated NAS10497217
    GO:0016573histone acetylation IDA11965546

    KAT6B for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for KAT6B

    1 Novoseek inferred chemical compound relationship for KAT6B gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    zinc 43 8 10497217 (2), 11965546 (1), 15313893 (1), 11157802 (1)



    KAT6B for compounds           About GeneDecksing



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for KAT6B gene (3 alternative transcripts): 
    NM_001256468.1  NM_001256469.1  NM_012330.3  

    Unigene Cluster for KAT6B:

    K(lysine) acetyltransferase 6B
    Hs.35758  [show with all ESTs]
    Unigene Representative Sequence: NM_012330
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000372725 ENST00000372724(uc001jwm.1) ENST00000287239(uc001jwn.1 uc001jwo.1 uc001jwp.1)
    ENST00000372714 ENST00000604130 ENST00000372711 ENST00000490365
    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate KAT6B (see all 62):
    hsa-miR-3678-3p hsa-miR-2052 hsa-miR-328 hsa-miR-4307 hsa-miR-300 hsa-miR-938 hsa-miR-200a hsa-let-7a-2*
    SwitchGear 3'UTR luciferase reporter plasmidKAT6B 3' UTR sequence
    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat KAT6B
      QuantiFast Probe-based Assays in human, mouse, rat KAT6B

    Additional mRNA sequence: 

    AB002381.2 AF113514.1 AF119230.1 AF119231.1 AF217500.1 AJ299261.1 AJ299262.1 AK074816.1 
    AL832065.1 BC014143.2 BC021128.1 BC048199.1 BC150270.1 BC150618.1 

    9 DOTS entries:

    DT.95223487  DT.314915  DT.100785481  DT.40307207  DT.95205344  DT.95223522  DT.121253374  DT.91646613 
    DT.95223514 

    Selected AceView cDNA sequences (see all 194):

    AW025785 BM459432 AA824256 BE218077 AA329504 AF113514 AB002381 BP362193 
    AA744731 AI621109 BE326582 AW024155 AW236465 BM142065 AA861647 BQ070686 
    AI057110 AL832065 AW772165 AI917790 AA326277 BE674192 AA932905 BF224245 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for KAT6B (see all 14)    About this scheme

    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:                                                                                                                                                            

    ExUns: 18b ^ 19 ^ 20 ^ 21 ^ 22
    SP1:                              
    SP2:                              
    SP3:                              
    SP4:                              
    SP5:                              


    ECgene alternative splicing isoforms for KAT6B

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    KAT6B expression in normal human tissues (normalized intensities)      KAT6B embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAAGTTTATT
    KAT6B Expression
    About this image


    KAT6B expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Mesoderm (Gastrulation Derivatives)
             Limb Bud Mesenchyme Cells Limb Bud
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
    KAT6B Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KAT6B Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.35758

    UniProtKB/Swiss-Prot: KAT6B_HUMAN, Q8WYB5
    Tissue specificity: Ubiquitously expressed, with high levels in heart, pancreas, testis and ovary

        Pathway & Disease-focused RT2 Profiler PCR Array including KAT6B: 
              Epigenetic Chromatin Modification Enzymes in human mouse rat

    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for KAT6B
    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat KAT6B
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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)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for KAT6B gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Kat6b5 MYST histone acetyltransferase monocytic leukemia 4   --   14 (11.73 cM) 21481434 
    chicken
    (Gallus gallus)
    Aves KAT6B1 K(lysine) acetyltransferase 6B 81.14(n)
    84.04(a)
      423734  XM_004942070.1  XP_004942127.1 
    lizard
    (Anolis carolinensis)
    Reptilia KAT6B6
    K(lysine) acetyltransferase 6B
    77(a)
    1 ↔ 1
    GL343196.1(2267250-2374741)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia kat6a1 K(lysine) acetyltransferase 6A 60.8(n)
    59.61(a)
      100496520  XM_002932749.2  XP_002932795.2 
    zebrafish
    (Danio rerio)
    Actinopterygii kat6b1 K(lysine) acetyltransferase 6B 67.92(n)
    67.96(a)
      568932  XM_692291.5  XP_697383.4 
    fruit fly
    (Drosophila melanogaster)
    Insecta enok6
    enoki mushroom
    22(a)
    1 → many
    2R(19987404-19994557)
    worm
    (Caenorhabditis elegans)
    Secernentea lsy-126
    Protein LSY-12, isoform k (lsy-12) mRNA, complete ...
    23(a)
    1 → many
    V(9846157-9859963) WBGene00045419
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ESA16
    Catalytic subunit of the histone acetyltransferase...
    39(a)
    1 → many
    XV(792531-793868) YOR244W


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for KAT6B gene
    KAT52  KAT72  KAT6A2  KAT82  
    9 SIMAP similar genes for KAT6B using alignment to 1 protein entry:     KAT6B_HUMAN:
    DKFZp313G1618    MORF/CBP    CBP/MORF    MYST4    KAT8    KAT7
    KAT5    KAT6A    MYST3

    KAT6B 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for KAT6B (see all 3518)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0363614
    A breast cancer sample4--see VAR_0363612 T A mis40--------
    rs1994704821,2
    Cpathogenic180123948(+) CAGCA-/TGCT  
      GCAGCA
    AACCA
    6 Q HAAAN fra10--------
    rs1994704771,2
    Cpathogenic180124953(+) AGACT-/CTGCACG 6 C S fra10--------
    rs1994704701,2
    Cpathogenic180125389(+) GTCTA-/TCTA  
            
    AGTGG
    6 G K fra10--------
    rs728034611,2
    C,Funtested180124323(+) CGTACG/ATTCTG 6 /H /R mis12Minor allele frequency- A:0.00NA EU 5875
    rs37403211,2,,4
    C,F,Huntested180124663(-) GGGTAC/TAGCTT 6 I V mis121Minor allele frequency- T:0.04EA NS WA NA EU 10001
    rs573729861,2,,4
    C,Funtested180128749(+) AGAATG/TCTGAC 6 A S mis13Minor allele frequency- T:0.01WA NA EU 5877
    rs1456560081,2
    C--70582676(+) TAGGAA/GCCATT 3 -- us2k10--------
    rs1902366451,2
    --70582740(+) CCTCCA/GGAAAG 3 -- us2k10--------
    rs1384750041,2
    C--70582977(+) CCCCT-/CCCGCC 3 -- us2k10--------

    HapMap Linkage Disequilibrium report for KAT6B (76585340 - 76792639 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for KAT6B:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2674729CNV Deletion23128226
    esv2674315CNV Deletion23128226
    nsv7176CNV Loss18451855
    esv21440CNV Loss19812545
    nsv895729CNV Loss21882294

    Human Gene Mutation Database (HGMD): KAT6B
    Locus Specific Mutation Databases (LSDB): KAT6B

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing KAT6B
    DNA2.0 Custom Variant and Variant Library Synthesis for KAT6B

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 605880   
    OMIM disorders: 603736  606170  
    UniProtKB/Swiss-Prot: KAT6B_HUMAN, Q8WYB5
  • Note=A chromosomal aberration involving KAT6B may be a cause acute myeloid leukemias. Translocation
    t(10;16)(q22;p13) with CREBBP
  • 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. Note=The disease is
    caused by mutations affecting the gene represented in this entry
  • 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. Note=The disease is caused by mutations affecting the gene represented in this entry

  • Selected diseases for KAT6B (see all 28):    About MalaCards
    ohdo syndrome, say-barber-biesecker-young-simpson variant    monocytic leukemia    genitopatellar syndrome    say-barber-biesecker variant of ohdo syndrome
    kat6b-related disorders    noonan syndrome 1    leukemia    blepharophimosis
    acute myeloid leukemia    myeloid leukemia    noonan syndrome    was-related disorders
    microcephaly    hypotonia    mental retardation    breast and colorectal cancer
    cerebritis    ataxia    tonsillitis    thyroiditis


    KAT6B for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    5 Novoseek inferred disease relationships for KAT6B gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    monocytic leukemia 81.1 7 10497217 (2), 11965546 (1), 15313893 (1)
    aml childhood 77 1 12619164 (1)
    leukemogenesis 69.2 2 11965546 (1), 12893170 (1)
    chromosomal aberrations 44.4 2 14960713 (1), 12893170 (1)
    leukemia 30.3 1 12893170 (1)


    Export disorders for KAT6B 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 KAT6B gene, integrated from 10 sources (see all 42):
    (articles sorted by number of sources associating them with KAT6B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of a human histone acetyltransferase related to monocytic leukemia zinc finger protein. (PubMed id 10497217)1, 2, 3, 9 Champagne N.... Yang X.-J. (J. Biol. Chem. 1999)
    2. 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. (PubMed id 9205841)1, 2, 3 Nagase T.... Ohara O. (DNA Res. 1997)
    3. MOZ and MORF histone acetyltransferases interact with the Runt-domain transcription factor Runx2. (PubMed id 11965546)1, 2, 9 Pelletier N.... Yang X.-J. (Oncogene 2002)
    4. Fusion of the MORF and CBP genes in acute myeloid leukemia with the t(10;16)(q22;p13). (PubMed id 11157802)1, 2, 9 Panagopoulos I.... Johansson B. (Hum. Mol. Genet. 2001)
    5. Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome. (PubMed id 22265014)1, 2 Campeau P.M.... Lee B.H. (Am. J. Hum. Genet. 2012)
    6. Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber- Biesecker variant of Ohdo syndrome. (PubMed id 22077973)1, 2 Clayton-Smith J.... Black G. (Am. J. Hum. Genet. 2011)
    7. Molecular architecture of quartet MOZ/MORF histone acetyltransferase complexes. (PubMed id 18794358)1, 2 Ullah M....Yang X.-J. (Mol. Cell. Biol. 2008)
    8. ING tumor suppressor proteins are critical regulators of chromatin acetylation required for genome expression and perpetuation. (PubMed id 16387653)1, 2 Doyon Y.... Cote J. (Mol. Cell 2006)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    10. Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. (PubMed id 12168954)1, 2 Nakajima D.... Nagase T. (DNA Res. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 23522 HGNC: 17582 AceView: MYST4 Ensembl:ENSG00000156650 euGenes: HUgn23522
    ECgene: KAT6B H-InvDB: KAT6B

    (According to HUGE)
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    HUGE: KIAA0383

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for KAT6B Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for KAT6B Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for KAT6B gene:
    Search GeneIP for patents involving KAT6B

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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