Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7994
Gene name Gene Name - the full gene name approved by the HGNC.
Lysine acetyltransferase 6A
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
KAT6A
Synonyms (NCBI Gene) Gene synonyms aliases
ARTHS, MOZ, MRD32, MYST-3, MYST3, RUNXBP2, ZC2HC6A, ZNF220
Disease Acronyms (UniProt) Disease acronyms from UniProt database
ARTHS
Chromosome Chromosome number
8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
8p11.21
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000786 Component Nucleosome IEA
GO:0003677 Function DNA binding IDA 17925393
GO:0003712 Function Transcription coregulator activity IBA 21873635
GO:0003713 Function Transcription coactivator activity TAS 18794358
GO:0004402 Function Histone acetyltransferase activity IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
601408 13013 ENSG00000083168
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Adenocarcinoma Adenoid Cystic Carcinoma rs121913530, rs886039394, rs121913474 23685749
Atrial septal defect Atrial Septal Defects rs137852951, rs137852953, rs137852955, rs267607106, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074
View all (25 more)
Brachydactyly Brachydactyly rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852
View all (22 more)
Craniosynostosis Craniosynostosis rs104893895, rs587777006, rs587777007, rs587777008, rs587777010, rs864321680, rs864321681, rs1057517670, rs1064794325, rs1555750816, rs1599823350 25728777
Unknown
Disease term Disease name Evidence References Source
Ptosis Blepharoptosis, Ptosis ClinVar
Diabetes Diabetes GWAS
Associations from Text Mining
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