Property Summary

NCBI Gene PubMed Count 37
Grant Count 40
R01 Count 26
Funding $5,796,488.26
PubMed Score 178.78
PubTator Score 73.05

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (8)

Disease log2 FC p
psoriasis 1.500 0.004
osteosarcoma 2.088 0.000
medulloblastoma 1.800 0.000
atypical teratoid / rhabdoid tumor 1.100 0.000
glioblastoma 1.100 0.000
medulloblastoma, large-cell 1.700 0.000
primitive neuroectodermal tumor 1.300 0.000
ovarian cancer -1.400 0.000

Gene RIF (24)

PMID Text
26334766 Kat6 c.3147G>A splice site mutation causes Say-Barber-Biesecker/Young-Simpson syndrome by inducing aberrant splicing.
26208904 Homozygous deletions of KAT6B and the loss of its mRNA occur in SCLC cell lines and primary tumors. KAT6B loss enhances cancer growth. Restoration induces tumor suppressor-like features involving a new type of histone H3 Lys23 acetyltransferase activity.
25840828 This study shown MYST4 to be the risk factor for attention deficit/hyperactivity disorder.
25424711 KAT6B sequence variants are being reported in the Say-Barber-Biesecker type of blepharophimosis mental retardation syndromes (SBBS) and in the more severe genitopatellar syndrome.
24698832 The relationship between MYO1C and KAT6B suggests that the two are interacting in chromatin remodelling for gene expression in human masseter muscle. This is the nuclear myosin1 (NM1) function of MYO1C.
24458743 Similar to those observed in other genetic disorders resulting from KAT6B mutations.
24444492 The study showed that markers rs11001178 (MYST4) showed weak associations.
24294372 KAT5 and KAT6B regulate prostate cancer cell growth through PI3K-AKT signaling.
24150941 MORF double PHD finger binds to Histone H3 in a manner that is enhanced by acetylation of the lysine residues K9 and K14
23436491 Our results confirm the implication of KAT6B mutations in typical SBBYS syndrome and emphasize the importance of genotype-phenotype correlations at the KAT6B locus.
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AA Sequence

MVKLANPLYTEWILEAIQKIKKQKQRPSEERICHAVSTSHGLDKKTVSEQLELSVQDGSVLKVTNKGLAS      1 - 70
YKDPDNPGRFSSVKPGTFPKSAKGSRGSCNDLRNVDWNKLLRRAIEGLEEPNGSSLKNIEKYLRSQSDLT     71 - 140
STTNNPAFQQRLRLGAKRAVNNGRLLKDGPQYRVNYGSLDGKGAPQYPSAFPSSLPPVSLLPHEKDQPRA    141 - 210
DPIPICSFCLGTKESNREKKPEELLSCADCGSSGHPSCLKFCPELTTNVKALRWQCIECKTCSACRVQGR    211 - 280
NADNMLFCDSCDRGFHMECCDPPLSRMPKGMWICQVCRPKKKGRKLLHEKAAQIKRRYAKPIGRPKNKLK    281 - 350
QRLLSVTSDEGSMNAFTGRGSPGRGQKTKVCTTPSSGHAASGKDSSSRLAVTDPTRPGATTKITTTSTYI    351 - 420
SASTLKVNKKTKGLIDGLTKFFTPSPDGRRSRGEIIDFSKHYRPRKKVSQKQSCTSHVLATGTTQKLKPP    421 - 490
PSSLPPPTPISGQSPSSQKSSTATSSPSPQSSSSQCSVPSLSSLTTNSQLKALFDGLSHIYTTQGQSRKK    491 - 560
GHPSYAPPKRMRRKTELSSTAKSKAHFFGKRDIRSRFISHSSSSSWGMARGSIFKAIAHFKRTTFLKKHR    561 - 630
MLGRLKYKVTPQMGTPSPGKGSLTDGRIKPDQDDDTEIKINIKQESADVNVIGNKDVVTEEDLDVFKQAQ    631 - 700
ELSWEKIECESGVEDCGRYPSVIEFGKYEIQTWYSSPYPQEYARLPKLYLCEFCLKYMKSKNILLRHSKK    701 - 770
CGWFHPPANEIYRRKDLSVFEVDGNMSKIYCQNLCLLAKLFLDHKTLYYDVEPFLFYVLTKNDEKGCHLV    771 - 840
GYFSKEKLCQQKYNVSCIMIMPQHQRQGFGRFLIDFSYLLSRREGQAGSPEKPLSDLGRLSYLAYWKSVI    841 - 910
LEYLYHHHERHISIKAISRATGMCPHDIATTLQHLHMIDKRDGRFVIIRREKLILSHMEKLKTCSRANEL    911 - 980
DPDSLRWTPILISNAAVSEEEREAEKEAERLMEQASCWEKEEQEILSTRANSRQSPAKVQSKNKYLHSPE    981 - 1050
SRPVTGERGQLLELSKESSEEEEEEEDEEEEEEEEEEEEDEEEEEEEEEEEEEENIQSSPPRLTKPQSVA   1051 - 1120
IKRKRPFVLKKKRGRKRRRINSSVTTETISETTEVLNEPFDNSDEERPMPQLEPTCEIEVEEDGRKPVLR   1121 - 1190
KAFQHQPGKKRQTEEEEGKDNHCFKNADPCRNNMNDDSSNLKEGSKDNPEPLKCKQVWPKGTKRGLSKWR   1191 - 1260
QNKERKTGFKLNLYTPPETPMEPDEQVTVEEQKETSEGKTSPSPIRIEEEVKETGEALLPQEENRREETC   1261 - 1330
APVSPNTSPGEKPEDDLIKPEEEEEEEEEEEEEEEEEEGEEEEGGGNVEKDPDGAKSQEKEEPEISTEKE   1331 - 1400
DSARLDDHEEEEEEDEEPSHNEDHDADDEDDSHMESAEVEKEELPRESFKEVLENQETFLDLNVQPGHSN   1401 - 1470
PEVLMDCGVDLTASCNSEPKELAGDPEAVPESDEEPPPGEQAQKQDQKNSKEVDTEFKEGNPATMEIDSE   1471 - 1540
TVQAVQSLTQESSEQDDTFQDCAETQEACRSLQNYTRADQSPQIATTLDDCQQSDHSSPVSSVHSHPGQS   1541 - 1610
VRSVNSPSVPALENSYAQISPDQSAISVPSLQNMETSPMMDVPSVSDHSQQVVDSGFSDLGSIESTTENY   1611 - 1680
ENPSSYDSTMGGSICGNGSSQNSCSYSNLTSSSLTQSSCAVTQQMSNISGSCSMLQQTSISSPPTCSVKS   1681 - 1750
PQGCVVERPPSSSQQLAQCSMAANFTPPMQLAEIPETSNANIGLYERMGQSDFGAGHYPQPSATFSLAKL   1751 - 1820
QQLTNTLIDHSLPYSHSAAVTSYANSASLSTPLSNTGLVQLSQSPHSVPGGPQAQATMTPPPNLTPPPMN   1821 - 1890
LPPPLLQRNMAASNIGISHSQRLQTQIASKGHISMRTKSASLSPAAATHQSQIYGRSQTVAMQGPARTLT   1891 - 1960
MQRGMNMSVNLMPAPAYNVNSVNMNMNTLNAMNGYSMSQPMMNSGYHSNHGYMNQTPQYPMQMQMGMMGT   1961 - 2030
QPYAQQPMQTPPHGNMMYTAPGHHGYMNTGMSKQSLNGSYMRR                              2031 - 2073
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Text Mined References (41)

PMID Year Title
26334766 2015 A recurrent synonymous KAT6B mutation causes Say-Barber-Biesecker/Young-Simpson syndrome by inducing aberrant splicing.
26208904 2015 KAT6B Is a Tumor Suppressor Histone H3 Lysine 23 Acetyltransferase Undergoing Genomic Loss in Small Cell Lung Cancer.
25840828 2015 Multiple epigenetic factors predict the attention deficit/hyperactivity disorder among the Chinese Han children.
25772364 2015 SUMO-2 Orchestrates Chromatin Modifiers in Response to DNA Damage.
25755297 2015 System-wide Analysis of SUMOylation Dynamics in Response to Replication Stress Reveals Novel Small Ubiquitin-like Modified Target Proteins and Acceptor Lysines Relevant for Genome Stability.
25424711 2015 Further delineation of the KAT6B molecular and phenotypic spectrum.
24698832 2014 Molecular motor MYO1C, acetyltransferase KAT6B and osteogenetic transcription factor RUNX2 expression in human masseter muscle contributes to development of malocclusion.
24458743 2014 An individual with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and additional features expands the phenotype associated with mutations in KAT6B.
24444492 2014 Identification of novel loci for bipolar I disorder in a multi-stage genome-wide association study.
24294372 2013 KAT5 and KAT6B are in positive regulation on cell proliferation of prostate cancer through PI3K-AKT signaling.
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