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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

KAT6B Gene

protein-coding GIFtS: 53
GCID: GC10P076586

K(lysine) acetyltransferase 6B

(Previous name: MYST histone acetyltransferase (monocytic leukemia) 4 )
(Previous symbol: MYST4)

Explore 14 diseases affiliated with
KAT6B via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
K(Lysine) Acetyltransferase 6B¹ ²		MYST-4² ³
MYST4¹ ² ³ ⁵		MOZ, YBF2/SAS3, SAS2 And TIP60 Protein 4² ³
MOZ2¹ ² ³		Morf¹
MORF² ³ ⁵		GTPTS²
ZC2HC6B¹ ²		Histone Acetyltransferase KAT6B²
MYST Histone Acetyltransferase (Monocytic Leukemia) 4¹ ²		Histone Acetyltransferase MORF²
Qkf¹		Histone Acetyltransferase MYST4²
Querkopf¹		MOZ-Related Factor²
Histone Acetyltransferase MOZ2² ³		EC 2.3.1.48³
Monocytic Leukemia Zinc Finger Protein-Related Factor² ³		KIAA0383³

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for KAT6B:

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)

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)

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000010.10 NC_018921.1 NT_030059.13

Regulatory elements:

Search SABiosciences Regulatory transcription factor binding sites for KAT6B
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): KAT6B promoter sequence

Search SABiosciences Chromatin IP Primers for KAT6B

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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

Subcellular location: Nucleus (Probable)

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

Post-translational modifications:

Autoacetylated¹

Autoacetylation at Lys-815 is required for proper function (By similarity)¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q8WYB5

KAT6B Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (3 alternative transcripts):

NP_001243397.1 NP_001243398.1 NP_036462.2

ENSEMBL proteins:

ENSP00000361810 ENSP00000361809 ENSP00000287239 ENSP00000361799 ENSP00000361796

Human Recombinant Protein Products:

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	Browse Sino Biological Recombinant Proteins
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	Uscn Proteins for KAT6B

Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000786	nucleosome	NAS	10497217
GO:0005634	nucleus	TAS	10497217
GO:0070776	MOZ/MORF histone acetyltransferase complex	IDA	16387653

KAT6B for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for KAT6B

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

KAT6B for domains About GeneDecksing

5/8 InterPro domains/families (see all 8):

IPR001965 Znf_PHD

IPR013083 Znf_RING/FYVE/PHD

IPR002717 MOZ_SAS

IPR011991 WHTH_trsnscrt_rep_DNA-bd_dom

IPR016181 Acyl_CoA_acyltransferase

Graphical View of Domain Structure for InterPro Entry Q8WYB5

ProtoNet protein and cluster: Q8WYB5

2 Blocks protein families:

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

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

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

Catalytic activity: Acetyl-CoA + [histone] = CoA + acetyl-[histone]

Enzyme Number (IUBMB): EC 2.3.1.48¹

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		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*

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KAT6B

Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003677	DNA binding	IEA	--
GO:0004402	histone acetyltransferase activity	IDA	10497217
GO:0005515	protein binding	IPI	11965546
GO:0008134	transcription factor binding	IDA	11965546
GO:0008270	zinc ion binding	IEA	--

KAT6B for ontologies About GeneDecksing

2 GenomeRNAi human phenotypes for KAT6B:

Increased cell death HMECs cel

Synthetic lethal with Ras

Animal Models:
11 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Kat6b):

adipose tissue	cellular	craniofacial	growth/size	hearing/vestibular/ear
limbs/digits/tail	mortality/aging	muscle	nervous system	skeleton
vision/eye

KAT6B for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Selected targets of Oct-3/4

Selected targets of Oct-3/4

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for KAT6B

Selected targets of Oct-3/4

KAT6B for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for KAT6B

STRING Interaction Network Preview (showing 5 interactants - click image to see 14)

5/14 Interacting proteins for KAT6B (Q8WYB5^{2, 3} ENSP00000287239⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 14)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ATN1	P54259²^,³, ENSP00000349076⁴	MINT-2871114 I2D: score=3 STRING: ENSP00000349076
RUNX1	Q01196³, ENSP00000300305⁴	I2D: score=2 STRING: ENSP00000300305
RUNX2	Q13950³, ENSP00000352514⁴	I2D: score=2 STRING: ENSP00000352514
ING5	Q8WYH8³, ENSP00000322142⁴	I2D: score=1 STRING: ENSP00000322142
BRD1	ENSP00000216267⁴	STRING: ENSP00000216267

About this table

Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006334	nucleosome assembly	NAS	10497217
GO:0006351	transcription, DNA-dependent	IEA	--
GO:0006355	regulation of transcription, DNA-dependent	NAS	10497217
GO:0016573	histone acetylation	IDA	11965546
GO:0043966	histone H3 acetylation	IDA	16387653

KAT6B for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

KAT6B for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for KAT6B
1 Novoseek 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)

Search CenterWatch for drugs/clinical trials and news about KAT6B

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

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

6 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000372725 ENST00000372724(uc001jwm.1) ENST00000287239(uc001jwn.1 uc001jwo.1 uc001jwp.1)

ENST00000372714 ENST00000372711 ENST00000490365

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		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat KAT6B
		8/62 QIAGEN miScript miRNA 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 plasmid: KAT6B 3' UTR sequence

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KAT6B

Additional cDNA 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

24/194 AceView cDNA sequences (see all 194):

BQ004146 AW025785 AA824256 AI224153 AF113514 AB002381 AI032605 BU633312

F03225 BQ070686 BM974783 AA861647 AI174978 AW236465 BC014143 BM459432

AI918905 BM782635 AI917790 AA332283 BC048199 AA326277 BE674192 CK903704

GeneLoc Exon Structure

5/14 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

KAT6B expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AAAGTTTATT

About this image

KAT6B expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Limb

Limb Bud

Limb Bud Mesenchyme Cells

Mesoderm

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See KAT6B Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for KAT6B

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

SABiosciences Expression via Pathway-Focused PCR Array including KAT6B:

Epigenetic Chromatin Modification Enzymes in human mouse rat

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KAT6B

(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)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for KAT6B gene from 8/26 species (see all 26) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Kat6b⁵ Myst4¹	MYST histone acetyltransferase monocytic leukemia 4^{1, 5}	86.64(n)¹ 87.67(a)¹		14 (11.73 cM)⁵ 54169¹ NM_017479.3¹ NP_059507.2¹ 21499785⁵
chicken (Gallus gallus)	Aves	MYST4¹	MYST histone acetyltransferase (monocytic leukemia) more	81.19(n) 84.14(a)		423734 XM_421609.3 XP_421609.3
lizard (Anolis carolinensis)	Reptilia	-- --	--	66(a) 34(a)	1 ↔ 1 possible ortholog	GL343196.1(2331618-2372862) GL343196.1(2273979-2316803)
zebrafish (Danio rerio)	Actinopterygii	kat6b¹	K(lysine) acetyltransferase 6B	63.07(n) 60.57(a)		568932 XM_692291.4 XP_697383.3
fruit fly (Drosophila melanogaster)	Insecta	enok⁶	enoki mushroom	16(a)	1 → many	2R(19987404-19994557)
worm (Caenorhabditis elegans)	Secernentea	mys-4⁶ lsy-12⁶	MYST family histone acetyltransferase-like family ... MYST family histone acetyltransferase-like family ...	20(a) 15(a)	possible ortholog many → 1	I(8333147-8336176) V(9846133-9859939)
thale cress (Arabidopsis thaliana)	eudicotyledons	HAM2⁶ HAM1⁶	histone acetyltransferase MYST1	35(a) 34(a)	many ↔ many many ↔ many	5(3021952-3024756) 5(25828160-25830524)
rice (Oryza sativa)	Liliopsida	--	MYST-like histone acetyltransferase 1, putative, e...	34(a)	1 → many	7(25957775-25962658)

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)
About This Section

Paralogs for KAT6B gene

KAT7² KAT5² KAT8² KAT6A²

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, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 10 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs74634963^1,2		--	70585534(+)	`TGATGC/GGAAAG`	3	--	int¹		0	--	--	--	--
rs77115897^1,2		--	70586337(+)	`AAGTTG/ATGAAG`	3	--	int¹		2		CSA WA	120
rs11350370^1,2	C	--	70586547(+)	`TTGTG-/TTTTTT`	3	--	int¹ trp³		2		NA CSA	4
rs113768531^1,2		--	70587078(+)	`GTTGGA/GGTGGT`	3	--	int¹		2		CSA WA	120
rs112771271^1,2	C,	--	70587132(+)	`AGACAG/AAGGAA`	3	--	int¹		2		CSA WA	120
rs74818657^1,2		--	70587185(+)	`CATGAC/TACGGT`	3	--	int¹		1		EA	120
rs12248131^1,2		--	70588842(+)	`gagacA/Ggagtt`	3	--	int¹		0	--	--	--	--
rs75431258^1,2		--	70589064(+)	`GACCCA/GCCCGT`	3	--	int¹		0	--	--	--	--
rs12249763^1,2	F,H,	--	70589142(+)	`ttttaG/Accatt`	3	--	int¹		6		NS EA CSA WA	536
rs200229125^1,2	C	--	70589404(+)	`GTCTTG/TTNNNN`	3	--	int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for KAT6B (76585340 - 76792639 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for KAT6B: --
Human Gene Mutation Database (HGMD): KAT6B

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing KAT6B

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

KAT6B for disorders About GeneDecksing

OMIM gene information: 605880 OMIM disorders: --

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

Defects in KAT6B are a cause of Ohdo syndrome, SBBYS variant (SBBYSS) [MIM:603736]. SBBYSS is 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. 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

Defects in KAT6B are a cause of genitopatellar syndrome (GTPTS) [MIM:606170]. GTPTS is 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

14 diseases for KAT6B: About MalaCards

acute myeloid leukemia monocytic leukemia leukemia myeloid leukemia

genitopatellar syndrome noonan syndrome hermaphroditism alzheimer's disease

ataxia cerebritis immunodeficiency malaria

neuronitis say-barber-biesecker variant of ohdo syndrome

5 Novoseek 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)
About This Section

PubMed articles for KAT6B gene, integrated from 9 sources (see all 40):
(articles sorted by number of sources associating them with KAT6B)

Utopia: connect your pdf to the dynamic
world of online information

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. (1999)
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. (1997)
MOZ and MORF histone acetyltransferases interact with the Runt-domain transcription factor Runx2. (PubMed id 11965546)^{1, 2, 9} Pelletier N.... Yang X.-J. (2002)
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. (2001)
Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome. (PubMed id 22265014)^{1, 2} Campeau P.M.... Lee B.H. (2012)
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. (2011)
Molecular architecture of quartet MOZ/MORF histone acetyltransferase complexes. (PubMed id 18794358)^{1, 2} Ullah M....Yang X.-J. (2008)
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. (2006)
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. (2004)
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. (2002)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
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)
About This Section

Entrez Gene: 23522	HGNC: 17582	AceView: MYST4	Ensembl:ENSG00000156650	euGenes: HUgn23522
ECgene: KAT6B	H-InvDB: KAT6B

(According to HUGE)
About This Section

HUGE: KIAA0383

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for KAT6B	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for KAT6B	Genetics and Cytogenetics in Oncology and Haematology

Intellectual Property for KAT6B gene
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Patent Information for KAT6B gene:
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GeneCards and IP:
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KAT6B Gene

K(lysine) acetyltransferase 6B

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

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KAT6B Gene

K(lysine) acetyltransferase 6B

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