Gene Gene information from NCBI Gene database.
Entrez ID 23522
Gene name Lysine acetyltransferase 6B
Gene symbol KAT6B
Synonyms (NCBI Gene)
GTPTSMORFMOZ2MYST4ZC2HC6Bqkfquerkopf
Chromosome 10
Chromosome location 10q22.2
Summary 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 transcripti
SNPs SNP information provided by dbSNP.
14
SNP ID Visualize variation Clinical significance Consequence
rs886039742 G>- Pathogenic Coding sequence variant, frameshift variant, 5 prime UTR variant
rs886041540 AG>- Pathogenic Coding sequence variant, frameshift variant
rs1057516033 G>A Pathogenic Splice donor variant
rs1064796000 G>- Pathogenic Frameshift variant, coding sequence variant
rs1064796095 TT>- Pathogenic Frameshift variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
469
miRTarBase ID miRNA Experiments Reference
MIRT016184 hsa-miR-590-3p Sequencing 20371350
MIRT018713 hsa-miR-335-5p Microarray 18185580
MIRT019652 hsa-miR-340-5p Sequencing 20371350
MIRT036254 hsa-miR-1236-3p CLASH 23622248
MIRT614954 hsa-miR-129-5p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
44
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin IBA
GO:0000786 Component Nucleosome IEA
GO:0000786 Component Nucleosome NAS 10497217
GO:0003677 Function DNA binding IEA
GO:0003682 Function Chromatin binding IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605880 17582 ENSG00000156650
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8WYB5
Protein name Histone acetyltransferase KAT6B (EC 2.3.1.48) (Histone acetyltransferase MOZ2) (MOZ, YBF2/SAS3, SAS2 and TIP60 protein 4) (MYST-4) (Monocytic leukemia zinc finger protein-related factor)
Protein 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
PDB 5U2J , 6OIE , 8E4V
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00628 PHD 271 320 PHD-finger Domain
PF17772 zf-MYST 717 771 MYST family zinc finger domain Domain
PF01853 MOZ_SAS 776 954 MOZ/SAS family Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed, with high levels in heart, pancreas, testis and ovary. {ECO:0000269|PubMed:10497217}.
Sequence
MVKLANPLYTEWILEAIQKIKKQKQRPSEERICHAVSTSHGLDKKTVSEQLELSVQDGSV
LKVTNKGLASYKDPDNPGRFSSVKPGTFPKSAKGSRGSCNDLRNVDWNKLLRRAIEGLEE
PNGSSLKNIEKYLRSQSDLTSTTNNPAFQQRLRLGAKRAVNNGRLLKDGPQYRVNYGSLD
GKGAPQYPSAFPSSLPPVSLLPHEKDQPRADPIPICSFCLGTKESNREKKPEELLSCADC
GSSGHPSCLKFCPELTTNVKALRWQCIECKTCSACRVQGRNADNMLFCDSCDRGFHMECC
DPPLSRMPKGMWICQVCRPK
KKGRKLLHEKAAQIKRRYAKPIGRPKNKLKQRLLSVTSDE
GSMNAFTGRGSPGRGQKTKVCTTPSSGHAASGKDSSSRLAVTDPTRPGATTKITTTSTYI
SASTLKVNKKTKGLIDGLTKFFTPSPDGRRSRGEIIDFSKHYRPRKKVSQKQSCTSHVLA
TGTTQKLKPPPSSLPPPTPISGQSPSSQKSSTATSSPSPQSSSSQCSVPSLSSLTTNSQL
KALFDGLSHIYTTQGQSRKKGHPSYAPPKRMRRKTELSSTAKSKAHFFGKRDIRSRFISH
SSSSSWGMARGSIFKAIAHFKRTTFLKKHRMLGRLKYKVTPQMGTPSPGKGSLTDGRIKP
DQDDDTEIKINIKQESADVNVIGNKDVVTEEDLDVFKQAQELSWEKIECESGVEDCGRYP
SVIEFGKYEIQTWYSSPYPQEYARLPKLYLCEFCLKYMKSKNILLRHSKKC
GWFHPPANE
IYRRKDLSVFEVDGNMSKIYCQNLCLLAKLFLDHKTLYYDVEPFLFYVLTKNDEKGCHLV
GYFSKEKLCQQKYNVSCIMIMPQHQRQGFGRFLIDFSYLLSRREGQAGSPEKPLSDLGRL
SYLAYWKSVILEYLYHHHERHISIKAISRATGMCPHDIATTLQHLHMIDKRDGR
FVIIRR
EKLILSHMEKLKTCSRANELDPDSLRWTPILISNAAVSEEEREAEKEAERLMEQASCWEK
EEQEILSTRANSRQSPAKVQSKNKYLHSPESRPVTGERGQLLELSKESSEEEEEEEDEEE
EEEEEEEEEDEEEEEEEEEEEEEENIQSSPPRLTKPQSVAIKRKRPFVLKKKRGRKRRRI
NSSVTTETISETTEVLNEPFDNSDEERPMPQLEPTCEIEVEEDGRKPVLRKAFQHQPGKK
RQTEEEEGKDNHCFKNADPCRNNMNDDSSNLKEGSKDNPEPLKCKQVWPKGTKRGLSKWR
QNKERKTGFKLNLYTPPETPMEPDEQVTVEEQKETSEGKTSPSPIRIEEEVKETGEALLP
QEENRREETCAPVSPNTSPGEKPEDDLIKPEEEEEEEEEEEEEEEEEEGEEEEGGGNVEK
DPDGAKSQEKEEPEISTEKEDSARLDDHEEEEEEDEEPSHNEDHDADDEDDSHMESAEVE
KEELPRESFKEVLENQETFLDLNVQPGHSNPEVLMDCGVDLTASCNSEPKELAGDPEAVP
ESDEEPPPGEQAQKQDQKNSKEVDTEFKEGNPATMEIDSETVQAVQSLTQESSEQDDTFQ
DCAETQEACRSLQNYTRADQSPQIATTLDDCQQSDHSSPVSSVHSHPGQSVRSVNSPSVP
ALENSYAQISPDQSAISVPSLQNMETSPMMDVPSVSDHSQQVVDSGFSDLGSIESTTENY
ENPSSYDSTMGGSICGNGSSQNSCSYSNLTSSSLTQSSCAVTQQMSNISGSCSMLQQTSI
SSPPTCSVKSPQGCVVERPPSSSQQLAQCSMAANFTPPMQLAEIPETSNANIGLYERMGQ
SDFGAGHYPQPSATFSLAKLQQLTNTLIDHSLPYSHSAAVTSYANSASLSTPLSNTGLVQ
LSQSPHSVPGGPQAQATMTPPPNLTPPPMNLPPPLLQRNMAASNIGISHSQRLQTQIASK
GHISMRTKSASLSPAAATHQSQIYGRSQTVAMQGPARTLTMQRGMNMSVNLMPAPAYNVN
SVNMNMNTLNAMNGYSMSQPMMNSGYHSNHGYMNQTPQYPMQMQMGMMGTQPYAQQPMQT
PPHGNMMYTAPGHHGYMNTGMSKQSLNGSYMRR
Sequence length 2073
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    HATs acetylate histones
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1409
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Pathogenic rs369027010 RCV002246470
Autosomal dominant KAT6B-related disorders Likely pathogenic rs1846100784 RCV001267662
Blepharophimosis - intellectual disability syndrome, SBBYS type Pathogenic; Likely pathogenic rs2134165472, rs2134241204, rs2134240789, rs761860621, rs199470480, rs2134240152, rs2133733164, rs2548333540, rs2548332680, rs906740657, rs863224883, rs2549198858, rs2549169772, rs2548990073, rs1554846300
View all (35 more)
RCV004594367
RCV001706921
RCV001754555
RCV002471167
RCV003319322
RCV002243599
RCV002272664
RCV002283995
RCV002287212
RCV002470459
RCV000195677
RCV003223443
RCV003127359
RCV004796780
RCV003225659
RCV001028070
RCV003234879
RCV003314363
RCV003338008
RCV003397193
RCV003482189
RCV004555392
RCV004594978
RCV000408626
RCV000023482
RCV000023483
RCV000023484
RCV000023485
RCV000505202
RCV000032258
RCV000032259
RCV000578470
RCV004798843
RCV001264410
RCV002283500
RCV000677647
RCV000677648
RCV000043511
RCV000043512
RCV000789017
RCV000850565
RCV000995790
RCV000995791
RCV001030030
RCV001198210
RCV001253318
RCV001254592
RCV001257975
RCV004594265
RCV002464441
Brain small vessel disease 1 with or without ocular anomalies Pathogenic rs369027010 RCV002246470
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Arachnodactyly Uncertain significance rs1057519003 RCV000415232
Congenital anomaly of kidney and urinary tract Benign rs1846114839 RCV001849620
Delayed speech and language development Conflicting classifications of pathogenicity rs778899637 RCV000626908
Developmental delay Uncertain significance rs2548336814 RCV003154086
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 35396535
Alcohol Related Disorders Associate 34519438
Aortic Aneurysm Abdominal Associate 26767057
Blepharophimosis Associate 37658610
Blepharophimosis Ptosis and Epicanthus Inversus Associate 24458743
Blepharophimosis syndrome Ohdo type Associate 23395478, 37658610, 38178270, 39986017
Bone Diseases Developmental Associate 28286003
Brachydactyly Long Thumb Type Associate 25424711
Carcinoma Hepatocellular Associate 34464167
Carcinoma Renal Cell Inhibit 37365518