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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
30
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Autism spectrum disorder Likely pathogenic rs2486754041, rs1822869930 RCV003127346
RCV001291382
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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
View all (62 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Craniosynostosis syndrome Pathogenic rs139494583 RCV001849359
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glioma susceptibility 1 Likely pathogenic rs1821915703 RCV005909301
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Absent or delayed speech development Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ARBOLEDA-THAM SYNDROME CTD, HPO
CTD, HPO
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT INTELLECTUAL DISABILITY, CRANIOFACIAL ANOMALIES, CARDIAC DEFECTS SYNDROME Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Accessory nipple Accessory Nipple CLINVAR_DG
★☆☆☆☆
Found in Text Mining only
Acute leukemia Leukemia BEFREE 10469454, 16923527, 27258906, 9731070
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 16923527
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 10459350, 10824998, 11243405, 28097792, 28871137, 29371181, 9447825, 9731070
★☆☆☆☆
Found in Text Mining only
Acute myeloid leukemia with t(8;16)(p11;p13) translocation Myeloid Leukemia With T(8;16)(P11;P13) Translocation ORPHANET_DG 18698081, 23974201
★☆☆☆☆
Found in Text Mining only
Acute myeloid leukemia with t(8;16)(p11;p13) translocation Myeloid Leukemia With T(8;16)(P11;P13) Translocation Orphanet
★☆☆☆☆
Found in Text Mining only
Acute myelomonocytic leukemia Myelomonocytic Leukemia BEFREE 11157802, 12964013, 15085163, 16923527, 20143402
★☆☆☆☆
Found in Text Mining only
Adenoid Cystic Carcinoma Adenocarcinoma CTD_human_DG 23685749
★☆☆☆☆
Found in Text Mining only
Adult Acute Myeloblastic Leukemia Myeloblastic Leukemia BEFREE 20143402
★☆☆☆☆
Found in Text Mining only
Adult Medulloblastoma Medulloblastoma CTD_human_DG 19270706
★☆☆☆☆
Found in Text Mining only