Gene Gene information from NCBI Gene database.
Entrez ID 7994
Gene name Lysine acetyltransferase 6A
Gene symbol KAT6A
Synonyms (NCBI Gene)
ARTHSMOZMRD32MYST-3MYST3RUNXBP2ZC2HC6AZNF220
Chromosome 8
Chromosome location 8p11.21
Summary This gene encodes a member of the MOZ, YBFR2, SAS2, TIP60 family of histone acetyltransferases. The protein is composed of a nuclear localization domain, a double C2H2 zinc finger domain that binds to acetylated histone tails, a histone acetyl-transferase
SNPs SNP information provided by dbSNP.
62
SNP ID Visualize variation Clinical significance Consequence
rs138944476 C>A,T Uncertain-significance, pathogenic Coding sequence variant, stop gained, genic downstream transcript variant, missense variant
rs139494583 C>A,T Pathogenic Coding sequence variant, stop gained, genic downstream transcript variant, missense variant
rs201870299 G>A,T Pathogenic Stop gained, missense variant, genic downstream transcript variant, coding sequence variant
rs374290942 G>A,C Pathogenic Stop gained, missense variant, genic downstream transcript variant, coding sequence variant
rs750315709 T>C Conflicting-interpretations-of-pathogenicity, benign Genic downstream transcript variant, coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
651
miRTarBase ID miRNA Experiments Reference
MIRT016673 hsa-miR-425-5p Sequencing 20371350
MIRT031066 hsa-miR-21-5p Microarray 20371350
MIRT041326 hsa-miR-193b-3p CLASH 23622248
MIRT038467 hsa-miR-296-3p CLASH 23622248
MIRT038467 hsa-miR-296-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
59
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin IBA
GO:0000786 Component Nucleosome IEA
GO:0003677 Function DNA binding IDA 17925393
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
601408 13013 ENSG00000083168
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q92794
Protein name Histone acetyltransferase KAT6A (EC 2.3.1.48) (MOZ, YBF2/SAS3, SAS2 and TIP60 protein 3) (MYST-3) (Monocytic leukemia zinc finger protein) (Runt-related transcription factor-binding protein 2) (Zinc finger protein 220)
Protein function Histone acetyltransferase that acetylates lysine residues in histone H3 and histone H4 (in vitro). Component of the MOZ/MORF complex which has a histone H3 acetyltransferase activity. May act as a transcriptional coactivator for RUNX1 and RUNX2.
PDB 1M36 , 2LN0 , 2OZU , 2RC4 , 3V43 , 4LJN , 4LK9 , 4LKA , 4LLB , 5B75 , 5B76 , 5B77 , 5B78 , 6LSB , 7Y43 , 8DD5 , 8H7A , 9ARR , 9DZN , 9FKR
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00628 PHD 208 265 PHD-finger Domain
PF00628 PHD 264 313 PHD-finger Domain
PF17772 zf-MYST 506 560 MYST family zinc finger domain Domain
PF01853 MOZ_SAS 565 743 MOZ/SAS family Family
Sequence
MVKLANPLYTEWILEAIKKVKKQKQRPSEERICNAVSSSHGLDRKTVLEQLELSVKDGTI
LKVSNKGLNSYKDPDNPGRIALPKPRNHGKLDNKQNVDWNKLIKRAVEGLAESGGSTLKS
IERFLKGQKDVSALFGGSAASGFHQQLRLAIKRAIGHGRLLKDGPLYRLNTKATNVDGKE
SCESLSCLPPVSLLPHEKDKPVAEPIPICSFCLGTKEQNREKKPEELISCADCGNSGHPS
CLKFSPELTVRVKALRWQCIECK
TCSSCRDQGKNADNMLFCDSCDRGFHMECCDPPLTRM
PKGMWICQICRPR
KKGRKLLQKKAAQIKRRYTNPIGRPKNRLKKQNTVSKGPFSKVRTGP
GRGRKRKITLSSQSASSSSEEGYLERIDGLDFCRDSNVSLKFNKKTKGLIDGLTKFFTPS
PDGRKARGEVVDYSEQYRIRKRGNRKSSTSDWPTDNQDGWDGKQENEERLFGSQEIMTEK
DMELFRDIQEQALQKVGVTGPPDPQVRCPSVIEFGKYEIHTWYSSPYPQEYSRLPKLYLC
EFCLKYMKSRTILQQHMKKC
GWFHPPANEIYRKNNISVFEVDGNVSTIYCQNLCLLAKLF
LDHKTLYYDVEPFLFYVLTQNDVKGCHLVGYFSKEKHCQQKYNVSCIMILPQYQRKGYGR
FLIDFSYLLSKREGQAGSPEKPLSDLGRLSYMAYWKSVILECLYHQNDKQISIKKLSKLT
GICPQDITSTLHHLRMLDFRSDQ
FVIIRREKLIQDHMAKLQLNLRPVDVDPECLRWTPVI
VSNSVVSEEEEEEAEEGENEEPQCQERELEISVGKSVSHENKEQDSYSVESEKKPEVMAP
VSSTRLSKQVLPHDSLPANSQPSRRGRWGRKNRKTQERFGDKDSKLLLEETSSAPQEQYG
ECGEKSEATQEQYTESEEQLVASEEQPSQDGKPDLPKRRLSEGVEPWRGQLKKSPEALKC
RLTEGSERLPRRYSEGDRAVLRGFSESSEEEEEPESPRSSSPPILTKPTLKRKKPFLHRR
RRVRKRKHHNSSVVTETISETTEVLDEPFEDSDSERPMPRLEPTFEIDEEEEEEDENELF
PREYFRRLSSQDVLRCQSSSKRKSKDEEEDEESDDADDTPILKPVSLLRKRDVKNSPLEP
DTSTPLKKKKGWPKGKSRKPIHWKKRPGRKPGFKLSREIMPVSTQACVIEPIVSIPKAGR
KPKIQESEETVEPKEDMPLPEERKEEEEMQAEAEEAEEGEEEDAASSEVPAASPADSSNS
PETETKEPEVEEEEEKPRVSEEQRQSEEEQQELEEPEPEEEEDAAAETAQNDDHDADDED
DGHLESTKKKELEEQPTREDVKEEPGVQESFLDANMQKSREKIKDKEETELDSEEEQPSH
DTSVVSEQMAGSEDDHEEDSHTKEELIELKEEEEIPHSELDLETVQAVQSLTQEESSEHE
GAYQDCEETLAACQTLQSYTQADEDPQMSMVEDCHASEHNSPISSVQSHPSQSVRSVSSP
NVPALESGYTQISPEQGSLSAPSMQNMETSPMMDVPSVSDHSQQVVDSGFSDLGSIESTT
ENYENPSSYDSTMGGSICGNSSSQSSCSYGGLSSSSSLTQSSCVVTQQMASMGSSCSMMQ
QSSVQPAANCSIKSPQSCVVERPPSNQQQQPPPPPPQQPQPPPPQPQPAPQPPPPQQQPQ
QQPQPQPQQPPPPPPPQQQPPLSQCSMNNSFTPAPMIMEIPESGSTGNISIYERIPGDFG
AGSYSQPSATFSLAKLQQLTNTIMDPHAMPYSHSPAVTSYATSVSLSNTGLAQLAPSHPL
AGTPQAQATMTPPPNLASTTMNLTSPLLQCNMSATNIGIPHTQRLQGQMPVKGHISIRSK
SAPLPSAAAHQQQLYGRSPSAVAMQAGPRALAVQRGMNMGVNLMPTPAYNVNSMNMNTLN
AMNSYRMTQPMMNSSYHSNPAYMNQTAQYPMQMQMGMMGSQAYTQQPMQPNPHGNMMYTG
PSHHSYMNAAGVPKQSLNGPYMRR
Sequence length 2004
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Signaling pathways regulating pluripotency of stem cells   HATs acetylate histones
Regulation of TP53 Activity through Acetylation
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
289
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autism spectrum disorder Likely pathogenic rs2486754041, rs1822869930 RCV003127346
RCV001291382
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome Pathogenic; Likely pathogenic rs1661324893, rs2150886504, rs2150884950, rs1211232252, rs2150856163, rs2150886359, rs2150855326, rs2150856658, rs2150855722, rs755669455, rs2150886525, rs2486812921, rs786200959, rs786200960, rs786200961
View all (52 more)
RCV001337002
RCV001353351
RCV001706926
RCV002222066
RCV001783498
RCV001784082
RCV001808911
RCV001814614
RCV001814884
RCV002267794
RCV002272771
RCV002289097
RCV000167549
RCV000167546
RCV000167547
RCV000167548
RCV002466339
RCV002471751
RCV002471756
RCV002471979
RCV002472071
RCV003314054
RCV003127348
RCV003148221
RCV002470835
RCV003333562
RCV003335837
RCV003444030
RCV003444089
RCV003444092
RCV003493232
RCV003985159
RCV003985245
RCV003994735
RCV004557276
RCV004594977
RCV004595191
RCV004595192
RCV000408607
RCV001329629
RCV003447148
RCV001197825
RCV001007884
RCV000677410
RCV000677718
RCV000677719
RCV000735235
RCV000754643
RCV000760212
RCV005253109
RCV001784374
RCV002290008
RCV000770753
RCV000853382
RCV000995788
RCV000995789
RCV001028031
RCV004577352
RCV002471059
RCV004577351
RCV001254181
RCV001262435
RCV001264751
RCV001265638
RCV005622093
RCV001270418
RCV001270383
Craniosynostosis syndrome Pathogenic rs139494583 RCV001849359
Glioma susceptibility 1 Likely pathogenic rs1821915703 RCV005909301
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Absent or delayed speech development Uncertain significance rs2150867525 RCV005420419
Borderline microcephaly Uncertain significance rs2150867525 RCV005420419
Developmental delay Uncertain significance rs2150867525 RCV005420419
Gastric cancer Benign; Likely benign rs138578452 RCV005904844
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Aortic Aneurysm Abdominal Associate 26767057
Apraxias Associate 29463886
Autism Spectrum Disorder Associate 36553567
Bone Marrow Failure Disorders Associate 36880793
Breast Neoplasms Associate 25220592, 37223020
Carcinogenesis Associate 35332266
Carcinoma Hepatocellular Stimulate 35332266
Carcinoma Renal Cell Associate 30622287
Carcinoma Renal Cell Inhibit 37365518
Carcinosarcoma Associate 32209061