KAT2B (lysine acetyltransferase 2B) - Rat Genome Database

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Gene: KAT2B (lysine acetyltransferase 2B) Homo sapiens
Analyze
Symbol: KAT2B
Name: lysine acetyltransferase 2B
RGD ID: 1314209
HGNC Page HGNC:8638
Description: Enables several functions, including N-acetyltransferase activity; histone deacetylase binding activity; and transcription coactivator activity. Involved in several processes, including cellular response to insulin stimulus; regulation of RNA metabolic process; and regulation of cell cycle process. Located in centrosome; cytosol; and nucleoplasm. Part of ATAC complex. Biomarker of breast cancer; esophagus squamous cell carcinoma; hepatocellular carcinoma; and rheumatoid arthritis.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CAF; CREBBP-associated factor; histone acetylase PCAF; histone acetyltransferase KAT2B; histone acetyltransferase PCAF; K(lysine) acetyltransferase 2B; P; P/CAF; p300/CBP-associated factor; PCAF; spermidine acetyltransferase KAT2B
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: AC105185.1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38320,040,446 - 20,154,404 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl320,040,446 - 20,154,404 (+)EnsemblGRCh38hg38GRCh38
GRCh37320,081,938 - 20,195,896 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36320,056,528 - 20,170,900 (+)NCBINCBI36Build 36hg18NCBI36
Build 34320,056,527 - 20,170,898NCBI
Celera320,022,291 - 20,136,515 (+)NCBICelera
Cytogenetic Map3p24.3NCBI
HuRef320,021,882 - 20,135,958 (+)NCBIHuRef
CHM1_1320,033,609 - 20,147,728 (+)NCBICHM1_1
T2T-CHM13v2.0320,044,513 - 20,158,472 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (EXP)
(1->4)-beta-D-glucan  (ISO)
(S)-naringenin  (EXP)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (EXP,ISO)
17beta-estradiol  (EXP,ISO)
17beta-hydroxy-17-methylestra-4,9,11-trien-3-one  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dinitrotoluene  (ISO)
2-Hydroxy-6-(8,11,14-pentadecatrienyl)benzoic acid  (ISO)
3,5-diethoxycarbonyl-1,4-dihydrocollidine  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-aza-2'-deoxycytidine  (EXP)
acetyl-CoA  (ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP)
Aflatoxin B2 alpha  (EXP)
aflatoxin M1  (EXP)
all-trans-retinoic acid  (EXP,ISO)
ammonium chloride  (ISO)
arsenite(3-)  (EXP)
arsenous acid  (EXP)
atrazine  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[e]pyrene  (EXP)
Benzo[k]fluoranthene  (ISO)
bis(2-chloroethyl) sulfide  (ISO)
bisphenol A  (EXP,ISO)
bortezomib  (EXP)
buta-1,3-diene  (ISO)
butanal  (EXP)
butyryl-CoA  (ISO)
cadmium atom  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chromium(6+)  (EXP)
cisplatin  (EXP,ISO)
coenzyme A  (ISO)
coumestrol  (EXP)
Cuprizon  (ISO)
cyclosporin A  (EXP)
deoxynivalenol  (EXP)
dexamethasone  (EXP)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
disodium selenite  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP)
entinostat  (EXP)
enzalutamide  (EXP)
ethyl methanesulfonate  (EXP)
fluvastatin  (EXP)
formaldehyde  (EXP)
FR900359  (EXP)
genistein  (EXP)
gentamycin  (ISO)
glafenine  (ISO)
hydroxyurea  (ISO)
irinotecan  (EXP)
isobutyryl-CoA  (ISO)
linalool  (EXP)
methapyrilene  (EXP,ISO)
methidathion  (ISO)
methotrexate  (EXP)
methyl methanesulfonate  (EXP)
methylmercury chloride  (EXP)
methylparaben  (EXP)
N-nitrosodiethylamine  (ISO)
nickel dichloride  (ISO)
ozone  (EXP,ISO)
panobinostat  (EXP)
paracetamol  (EXP,ISO)
perfluorooctane-1-sulfonic acid  (EXP,ISO)
phenobarbital  (ISO)
phenylmercury acetate  (EXP)
potassium bromate  (ISO)
potassium chromate  (EXP)
propiconazole  (ISO)
prostaglandin E2  (EXP)
quercetin  (EXP)
resveratrol  (EXP)
SB 431542  (EXP)
sodium arsenate  (ISO)
sodium arsenite  (EXP,ISO)
sodium fluoride  (ISO)
sulforaphane  (EXP)
superoxide  (EXP)
temozolomide  (EXP)
thimerosal  (EXP)
thioacetamide  (ISO)
triadimefon  (ISO)
trichostatin A  (EXP)
triptonide  (ISO)
tris(2-butoxyethyl) phosphate  (EXP)
tunicamycin  (EXP,ISO)
urethane  (EXP)
valproic acid  (EXP)
vincristine  (EXP)
zearalenone  (EXP)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
cellular response to insulin stimulus  (IDA)
cellular response to oxidative stress  (IEA,ISO)
cellular response to parathyroid hormone stimulus  (IEA,ISO)
chromatin remodeling  (IBA,IDA,NAS,TAS)
gluconeogenesis  (IEA,ISO)
heart development  (ISS)
limb development  (ISS)
memory  (IEA,ISO)
negative regulation of cell population proliferation  (IDA)
negative regulation of centriole replication  (IDA)
negative regulation of rRNA processing  (IDA)
negative regulation of transcription by RNA polymerase II  (IDA)
positive regulation of attachment of mitotic spindle microtubules to kinetochore  (IDA)
positive regulation of chromatin binding  (ISO)
positive regulation of DNA-templated transcription  (IEA,ISO,NAS)
positive regulation of fatty acid biosynthetic process  (IDA)
positive regulation of gluconeogenesis  (IEA,ISO)
positive regulation of glycolytic process  (IEA)
positive regulation of lipid biosynthetic process  (IEA)
positive regulation of neuron projection development  (IEA,ISO)
positive regulation of transcription by RNA polymerase II  (IBA,IDA,IEA,ISO)
positive regulation of transcription from RNA polymerase II promoter by glucose  (IEA)
protein acetylation  (ISO)
regulation of cell cycle  (ISS,TAS)
regulation of cell division  (ISS)
regulation of DNA repair  (NAS)
regulation of DNA-templated transcription  (IEA,ISS,NAS)
regulation of embryonic development  (ISS)
regulation of gene expression  (IEA)
regulation of RNA splicing  (NAS)
regulation of transcription by RNA polymerase II  (ISS)
regulation of tubulin deacetylation  (ISS)
rhythmic process  (IEA)
transcription initiation-coupled chromatin remodeling  (TAS)
vasodilation  (IEA,ISO)

Cellular Component
A band  (IEA)
actomyosin  (IEA)
ATAC complex  (IBA,IDA,IEA,ISO)
centrosome  (IDA,IEA)
chromatin  (IEA,ISO)
cytoplasm  (IEA)
cytoskeleton  (IEA)
cytosol  (IDA)
histone acetyltransferase complex  (IEA)
I band  (IEA)
kinetochore  (IEA)
mitotic spindle  (NAS)
nucleoplasm  (IDA,TAS)
nucleus  (IDA,IEA,ISO,ISS,TAS)
protein-containing complex  (IDA,IPI)
SAGA complex  (NAS)

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Transcriptional regulation by p53. Beckerman R and Prives C, Cold Spring Harb Perspect Biol. 2010 Aug;2(8):a000935. doi: 10.1101/cshperspect.a000935. Epub 2010 Apr 28.
2. Upregulation of KAT2B and ESCO2 gene expression level in patients with rheumatoid arthritis. Ghasemi A, etal., Clin Rheumatol. 2022 Sep 15. doi: 10.1007/s10067-022-06351-4.
3. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
4. Novel glucocorticoid receptor coactivator effector mechanisms. Jenkins BD, etal., Trends Endocrinol Metab. 2001 Apr;12(3):122-6.
5. Histone-modifier gene expression profiles are associated with pathological and clinical outcomes in human breast cancer. Patani N, etal., Anticancer Res. 2011 Dec;31(12):4115-25.
6. Physical and functional HAT/HDAC interplay regulates protein acetylation balance. Peserico A and Simone C, J Biomed Biotechnol. 2011;2011:371832. doi: 10.1155/2011/371832. Epub 2010 Dec 5.
7. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
8. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
9. Genetic variation in PCAF, a key mediator in epigenetics, is associated with reduced vascular morbidity and mortality: evidence for a new concept from three independent prospective studies. Pons D, etal., Heart. 2011 Jan;97(2):143-50. doi: 10.1136/hrt.2010.199927. Epub 2010 Nov 8.
10. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
11. ATAC-king the complexity of SAGA during evolution. Spedale G, etal., Genes Dev. 2012 Mar 15;26(6):527-41. doi: 10.1101/gad.184705.111.
12. [Expression of PCAF in hepatocellular carcinoma and its clinical significance]. Tuo H, etal., Xi Bao Yu Fen Zi Mian Yi Xue Za Zhi. 2013 Mar;29(3):297-300.
13. Characterization of tumor suppressive function of P300/CBP-associated factor at frequently deleted region 3p24 in esophageal squamous cell carcinoma. Zhu C, etal., Oncogene. 2009 Aug 6;28(31):2821-8. doi: 10.1038/onc.2009.137. Epub 2009 Jun 15.
Additional References at PubMed
PMID:1602151   PMID:8684459   PMID:8945521   PMID:9223281   PMID:9267036   PMID:9296499   PMID:9346901   PMID:9445475   PMID:9659901   PMID:9674425   PMID:9687513   PMID:9687573  
PMID:9710619   PMID:9722949   PMID:9733796   PMID:9742083   PMID:9744860   PMID:9809067   PMID:9824164   PMID:9880483   PMID:9885574   PMID:9891054   PMID:9892017   PMID:10022868  
PMID:10025406   PMID:10207070   PMID:10318892   PMID:10365964   PMID:10373431   PMID:10490106   PMID:10545121   PMID:10619020   PMID:10747963   PMID:10753971   PMID:10766811   PMID:10777539  
PMID:10777601   PMID:10779504   PMID:10811635   PMID:10852958   PMID:10891493   PMID:10891508   PMID:10944526   PMID:10958685   PMID:10966108   PMID:11046145   PMID:11058129   PMID:11118214  
PMID:11163245   PMID:11250901   PMID:11304541   PMID:11328859   PMID:11404076   PMID:11463815   PMID:11486036   PMID:11509179   PMID:11509661   PMID:11547919   PMID:11564863   PMID:11568182  
PMID:11581372   PMID:11607033   PMID:11689696   PMID:11741939   PMID:11744716   PMID:11748222   PMID:11818576   PMID:11830591   PMID:11864601   PMID:11931765   PMID:11937047   PMID:11956210  
PMID:11994312   PMID:12015309   PMID:12032084   PMID:12068014   PMID:12082103   PMID:12101239   PMID:12154097   PMID:12163591   PMID:12297501   PMID:12374802   PMID:12391158   PMID:12419806  
PMID:12435739   PMID:12477932   PMID:12486002   PMID:12501250   PMID:12601814   PMID:12743606   PMID:12758070   PMID:12813456   PMID:12815053   PMID:12878208   PMID:12887892   PMID:12888487  
PMID:12917345   PMID:12937166   PMID:14500836   PMID:14581481   PMID:14614455   PMID:14645221   PMID:14657027   PMID:14661947   PMID:14747462   PMID:14752096   PMID:14767476   PMID:14769800  
PMID:14980312   PMID:15005629   PMID:15009097   PMID:15023334   PMID:15044952   PMID:15123636   PMID:15153330   PMID:15171254   PMID:15183343   PMID:15273251   PMID:15286281   PMID:15350211  
PMID:15454570   PMID:15482860   PMID:15489334   PMID:15507449   PMID:15509593   PMID:15572685   PMID:15604093   PMID:15611041   PMID:15616580   PMID:15647279   PMID:15719065   PMID:15834135  
PMID:15834423   PMID:15965232   PMID:15987677   PMID:15992539   PMID:15994459   PMID:16035254   PMID:16046164   PMID:16050810   PMID:16055439   PMID:16060659   PMID:16096645   PMID:16122695  
PMID:16135803   PMID:16146763   PMID:16285943   PMID:16322561   PMID:16332960   PMID:16362936   PMID:16415179   PMID:16537920   PMID:16543236   PMID:16582966   PMID:16613856   PMID:16617118  
PMID:16630892   PMID:16678111   PMID:16696975   PMID:16728408   PMID:16829519   PMID:16838299   PMID:16878158   PMID:16904069   PMID:16917507   PMID:17141982   PMID:17158926   PMID:17168834  
PMID:17189186   PMID:17226766   PMID:17293853   PMID:17301242   PMID:17317667   PMID:17444627   PMID:17468105   PMID:17475621   PMID:17505058   PMID:17602165   PMID:17611664   PMID:17643375  
PMID:17694077   PMID:17707232   PMID:17726049   PMID:17882273   PMID:17884818   PMID:17908689   PMID:17964260   PMID:17977830   PMID:17982102   PMID:18089809   PMID:18206972   PMID:18247445  
PMID:18250157   PMID:18400184   PMID:18443043   PMID:18497079   PMID:18504427   PMID:18574470   PMID:18586263   PMID:18599479   PMID:18660489   PMID:18663001   PMID:18669648   PMID:18697823  
PMID:18710935   PMID:18782771   PMID:18834332   PMID:18838386   PMID:18950845   PMID:18957410   PMID:18987336   PMID:19015268   PMID:19056724   PMID:19084499   PMID:19114550   PMID:19158279  
PMID:19176998   PMID:19188449   PMID:19223581   PMID:19249677   PMID:19276081   PMID:19303849   PMID:19351588   PMID:19407811   PMID:19470756   PMID:19483727   PMID:19526283   PMID:19589782  
PMID:19680552   PMID:19716452   PMID:19773423   PMID:19812265   PMID:19950226   PMID:19961954   PMID:19996091   PMID:20026908   PMID:20107328   PMID:20213728   PMID:20224553   PMID:20227660  
PMID:20363750   PMID:20364308   PMID:20379614   PMID:20484414   PMID:20530585   PMID:20562830   PMID:20589832   PMID:20604809   PMID:20620956   PMID:20651253   PMID:20663877   PMID:20663886  
PMID:20850016   PMID:20870727   PMID:20889312   PMID:20935208   PMID:21060154   PMID:21079652   PMID:21108945   PMID:21131905   PMID:21148070   PMID:21209460   PMID:21413932   PMID:21444723  
PMID:21447625   PMID:21489275   PMID:21775285   PMID:21873635   PMID:21987584   PMID:22055187   PMID:22100137   PMID:22174411   PMID:22219331   PMID:22328728   PMID:22335196   PMID:22384255  
PMID:22547391   PMID:22575646   PMID:22644376   PMID:22709982   PMID:22713239   PMID:22908229   PMID:22995475   PMID:23001041   PMID:23001180   PMID:23044042   PMID:23095762   PMID:23407894  
PMID:23415232   PMID:23441852   PMID:23555303   PMID:23591450   PMID:23595990   PMID:23667505   PMID:23670564   PMID:23714681   PMID:23826228   PMID:23932781   PMID:23943798   PMID:23981651  
PMID:24009623   PMID:24013724   PMID:24037888   PMID:24098694   PMID:24112038   PMID:24126058   PMID:24129567   PMID:24376456   PMID:24423233   PMID:24464226   PMID:24474698   PMID:24492005  
PMID:24529102   PMID:24677629   PMID:24722339   PMID:24739390   PMID:24825348   PMID:24944246   PMID:24981860   PMID:25025381   PMID:25174320   PMID:25269644   PMID:25281560   PMID:25426559  
PMID:25501279   PMID:25593309   PMID:25707758   PMID:25731772   PMID:25800736   PMID:25855960   PMID:26001729   PMID:26180087   PMID:26186194   PMID:26662507   PMID:26719334   PMID:26728851  
PMID:26802082   PMID:26867678   PMID:26945969   PMID:27019369   PMID:27104361   PMID:27117420   PMID:27143356   PMID:27270040   PMID:27297362   PMID:27300495   PMID:27453350   PMID:27613418  
PMID:27711074   PMID:27796307   PMID:28042499   PMID:28053092   PMID:28060382   PMID:28158851   PMID:28286521   PMID:28300060   PMID:28475175   PMID:28514442   PMID:28571745   PMID:28678170  
PMID:28854354   PMID:28854355   PMID:28985013   PMID:29033323   PMID:29053956   PMID:29174768   PMID:29301498   PMID:29500370   PMID:29555684   PMID:29568061   PMID:29670108   PMID:29685955  
PMID:29746960   PMID:29768408   PMID:30118769   PMID:30205953   PMID:30482390   PMID:30585266   PMID:30833716   PMID:31042625   PMID:31278361   PMID:31545241   PMID:31753913   PMID:32238831  
PMID:32239175   PMID:32313942   PMID:32404984   PMID:32531376   PMID:32698523   PMID:32726623   PMID:32814053   PMID:32966758   PMID:33051058   PMID:33306668   PMID:33310188   PMID:33637726  
PMID:33704060   PMID:33812169   PMID:33894414   PMID:33961781   PMID:34130593   PMID:34163012   PMID:34221209   PMID:34270849   PMID:34304080   PMID:34576109   PMID:34758305   PMID:34857952  
PMID:35013218   PMID:35140242   PMID:35271311   PMID:35848906   PMID:36246398   PMID:36293441   PMID:37117180   PMID:37682711   PMID:38297188  


Genomics

Comparative Map Data
KAT2B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38320,040,446 - 20,154,404 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl320,040,446 - 20,154,404 (+)EnsemblGRCh38hg38GRCh38
GRCh37320,081,938 - 20,195,896 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36320,056,528 - 20,170,900 (+)NCBINCBI36Build 36hg18NCBI36
Build 34320,056,527 - 20,170,898NCBI
Celera320,022,291 - 20,136,515 (+)NCBICelera
Cytogenetic Map3p24.3NCBI
HuRef320,021,882 - 20,135,958 (+)NCBIHuRef
CHM1_1320,033,609 - 20,147,728 (+)NCBICHM1_1
T2T-CHM13v2.0320,044,513 - 20,158,472 (+)NCBIT2T-CHM13v2.0
Kat2b
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391753,873,802 - 53,979,749 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1753,873,889 - 53,979,748 (+)EnsemblGRCm39 Ensembl
GRCm381753,566,774 - 53,672,721 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1753,566,861 - 53,672,720 (+)EnsemblGRCm38mm10GRCm38
MGSCv371753,706,640 - 53,812,045 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361753,032,244 - 53,137,649 (+)NCBIMGSCv36mm8
Celera1757,012,579 - 57,114,621 (+)NCBICelera
Cytogenetic Map17CNCBI
cM Map1727.86NCBI
Kat2b
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr896,799,101 - 6,903,616 (+)NCBIGRCr8
mRatBN7.296,562,525 - 6,667,064 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl96,562,288 - 6,667,064 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.094,440,982 - 4,492,949 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl94,440,982 - 4,447,715 (-)NCBIRnor6.0rn6Rnor6.0
Rnor_5.093,479,552 - 3,531,771 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.49882,928 - 889,661NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.19882,927 - 889,661NCBI
Cytogenetic Map9q11NCBI
Kat2b
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495543012,128,069 - 12,198,117 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495543012,109,493 - 12,196,102 (+)NCBIChiLan1.0ChiLan1.0
KAT2B
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2220,004,090 - 20,118,205 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1320,008,861 - 20,122,967 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0319,956,067 - 20,070,637 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1320,286,080 - 20,399,970 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl320,286,865 - 20,400,770 (+)Ensemblpanpan1.1panPan2
KAT2B
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12323,166,722 - 23,242,447 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2323,168,600 - 23,233,478 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2323,190,019 - 23,289,543 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02323,651,391 - 23,751,080 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2323,651,410 - 23,751,080 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12323,363,816 - 23,463,316 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02323,429,027 - 23,528,696 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02323,675,265 - 23,774,811 (-)NCBIUU_Cfam_GSD_1.0
Kat2b
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118179,183,147 - 179,277,064 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647312,344,343 - 12,417,875 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647312,341,545 - 12,415,637 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
KAT2B
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl136,985,235 - 7,100,345 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1136,985,151 - 7,099,771 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2137,975,063 - 8,051,510 (+)NCBISscrofa10.2Sscrofa10.2susScr3
KAT2B
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11564,769,590 - 64,885,536 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1564,770,185 - 64,886,219 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604137,788,721 - 37,904,736 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Kat2b
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248215,387,212 - 5,489,013 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in KAT2B
80 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 3p24.3(chr3:18179713-22678013)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051507]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051507]|See cases [RCV000051507] Chr3:18179713..22678013 [GRCh38]
Chr3:18221205..22719504 [GRCh37]
Chr3:18196209..22694508 [NCBI36]
Chr3:3p24.3
pathogenic
GRCh38/hg38 3p24.3-24.2(chr3:20054451-23858736)x1 copy number loss See cases [RCV000051508] Chr3:20054451..23858736 [GRCh38]
Chr3:20095943..23900227 [GRCh37]
Chr3:20070947..23875231 [NCBI36]
Chr3:3p24.3-24.2
pathogenic
GRCh38/hg38 3p24.3(chr3:18253476-20137057)x3 copy number gain See cases [RCV000051439] Chr3:18253476..20137057 [GRCh38]
Chr3:18294968..20178549 [GRCh37]
Chr3:18269972..20153553 [NCBI36]
Chr3:3p24.3
uncertain significance
GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3 copy number gain See cases [RCV000051097] Chr3:52266..37148076 [GRCh38]
Chr3:93949..37189567 [GRCh37]
Chr3:68949..37164571 [NCBI36]
Chr3:3p26.3-22.2
pathogenic
GRCh38/hg38 3p26.3-24.3(chr3:52066-20280127)x3 copy number gain See cases [RCV000051690] Chr3:52066..20280127 [GRCh38]
Chr3:93749..20321619 [GRCh37]
Chr3:68749..20296623 [NCBI36]
Chr3:3p26.3-24.3
pathogenic
GRCh38/hg38 3p26.3-24.1(chr3:52266-29248782)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051718]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051718]|See cases [RCV000051718] Chr3:52266..29248782 [GRCh38]
Chr3:93949..29290273 [GRCh37]
Chr3:68949..29265277 [NCBI36]
Chr3:3p26.3-24.1
pathogenic
GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3 copy number gain See cases [RCV000051720] Chr3:11463328..38919543 [GRCh38]
Chr3:11504802..38961034 [GRCh37]
Chr3:11479802..38936038 [NCBI36]
Chr3:3p25.3-22.2
pathogenic
GRCh38/hg38 3p24.3-24.2(chr3:19915382-25537973)x3 copy number gain See cases [RCV000051721] Chr3:19915382..25537973 [GRCh38]
Chr3:19956874..25579464 [GRCh37]
Chr3:19931878..25554468 [NCBI36]
Chr3:3p24.3-24.2
pathogenic
GRCh38/hg38 3p24.3(chr3:18366779-20647947)x1 copy number loss See cases [RCV000136545] Chr3:18366779..20647947 [GRCh38]
Chr3:18408271..20689439 [GRCh37]
Chr3:18383275..20664443 [NCBI36]
Chr3:3p24.3
uncertain significance
GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3 copy number gain See cases [RCV000138004] Chr3:32241..30064208 [GRCh38]
Chr3:73914..30105699 [GRCh37]
Chr3:48914..30080703 [NCBI36]
Chr3:3p26.3-24.1
pathogenic
GRCh38/hg38 3p26.3-24.3(chr3:32241-20334387)x3 copy number gain See cases [RCV000137941] Chr3:32241..20334387 [GRCh38]
Chr3:73914..20375879 [GRCh37]
Chr3:48914..20350883 [NCBI36]
Chr3:3p26.3-24.3
pathogenic
GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3 copy number gain See cases [RCV000141810] Chr3:53308..41381521 [GRCh38]
Chr3:94991..41423012 [GRCh37]
Chr3:69991..41398016 [NCBI36]
Chr3:3p26.3-22.1
pathogenic
GRCh38/hg38 3p25.1-24.3(chr3:14360747-21656134)x4 copy number gain See cases [RCV000143767] Chr3:14360747..21656134 [GRCh38]
Chr3:14402247..21697626 [GRCh37]
Chr3:14377251..21672630 [NCBI36]
Chr3:3p25.1-24.3
pathogenic
GRCh37/hg19 3p26.3-24.2(chr3:61891-24432821)x3 copy number gain See cases [RCV000447247] Chr3:61891..24432821 [GRCh37]
Chr3:3p26.3-24.2
pathogenic
GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181)x3 copy number gain See cases [RCV000448528] Chr3:61891..36710181 [GRCh37]
Chr3:3p26.3-22.2
pathogenic
GRCh37/hg19 3p26.3-22.3(chr3:61891-33958201)x3 copy number gain See cases [RCV000510429] Chr3:61891..33958201 [GRCh37]
Chr3:3p26.3-22.3
pathogenic
GRCh37/hg19 3p26.3-22.2(chr3:61891-37459464)x3 copy number gain See cases [RCV000511463] Chr3:61891..37459464 [GRCh37]
Chr3:3p26.3-22.2
pathogenic
NM_003884.5(KAT2B):c.736G>A (p.Glu246Lys) single nucleotide variant Inborn genetic diseases [RCV003295751] Chr3:20101353 [GRCh38]
Chr3:20142845 [GRCh37]
Chr3:3p24.3
uncertain significance
NM_003884.5(KAT2B):c.820G>T (p.Asp274Tyr) single nucleotide variant Inborn genetic diseases [RCV003295752] Chr3:20101437 [GRCh38]
Chr3:20142929 [GRCh37]
Chr3:3p24.3
uncertain significance
NM_003884.5(KAT2B):c.1754del (p.Tyr585fs) deletion not provided [RCV000656547] Chr3:20136946 [GRCh38]
Chr3:20178438 [GRCh37]
Chr3:3p24.3
uncertain significance
NM_003884.5(KAT2B):c.2065T>A (p.Ser689Thr) single nucleotide variant Inborn genetic diseases [RCV003300742] Chr3:20146376 [GRCh38]
Chr3:20187868 [GRCh37]
Chr3:3p24.3
uncertain significance
NM_003884.5(KAT2B):c.113A>T (p.Gln38Leu) single nucleotide variant Inborn genetic diseases [RCV003271640] Chr3:20040590 [GRCh38]
Chr3:20082082 [GRCh37]
Chr3:3p24.3
uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p24.3-21.31(chr3:16923595-45249923)x2,3 copy number gain not provided [RCV000682249] Chr3:16923595..45249923 [GRCh37]
Chr3:3p24.3-21.31
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29
pathogenic
NC_000003.12:g.20040309C>A single nucleotide variant not provided [RCV001530565] Chr3:20040309 [GRCh38]
Chr3:20081801 [GRCh37]
Chr3:3p24.3
benign
GRCh37/hg19 3p25.2-24.2(chr3:13276005-24295240)x3 copy number gain not provided [RCV000742260] Chr3:13276005..24295240 [GRCh37]
Chr3:3p25.2-24.2
pathogenic
GRCh37/hg19 3p24.3(chr3:19961330-20231519)x3 copy number gain not provided [RCV000742285] Chr3:19961330..20231519 [GRCh37]
Chr3:3p24.3
benign
NM_003884.5(KAT2B):c.1413+185G>A single nucleotide variant not provided [RCV001681363] Chr3:20122989 [GRCh38]
Chr3:20164481 [GRCh37]
Chr3:3p24.3
benign
NM_003884.5(KAT2B):c.1151-47G>T single nucleotide variant not provided [RCV001681461] Chr3:20119551 [GRCh38]
Chr3:20161043 [GRCh37]
Chr3:3p24.3
benign
NM_003884.5(KAT2B):c.1043+115G>A single nucleotide variant not provided [RCV001666613] Chr3:20111902 [GRCh38]
Chr3:20153394 [GRCh37]
Chr3:3p24.3
benign
NM_003884.5(KAT2B):c.2119+152C>T single nucleotide variant not provided [RCV001690880] Chr3:20146582 [GRCh38]
Chr3:20188074 [GRCh37]
Chr3:3p24.3
benign
NM_003884.5(KAT2B):c.851+60G>C single nucleotide variant not provided [RCV001611364] Chr3:20101528 [GRCh38]
Chr3:20143020 [GRCh37]
Chr3:3p24.3
benign
NC_000003.12:g.20040202CAGCGG[3] microsatellite not provided [RCV001643371] Chr3:20040197..20040198 [GRCh38]
Chr3:20081689..20081690 [GRCh37]
Chr3:3p24.3
benign
NM_003884.5(KAT2B):c.2120-6G>A single nucleotide variant not provided [RCV000974969] Chr3:20147957 [GRCh38]
Chr3:20189449 [GRCh37]
Chr3:3p24.3
benign
NM_003884.5(KAT2B):c.2137C>A (p.Pro713Thr) single nucleotide variant KAT2B-related condition [RCV003916150]|not provided [RCV000964248] Chr3:20147980 [GRCh38]
Chr3:20189472 [GRCh37]
Chr3:3p24.3
benign
NM_003884.5(KAT2B):c.567T>C (p.Tyr189=) single nucleotide variant not provided [RCV000979694] Chr3:20095399 [GRCh38]
Chr3:20136891 [GRCh37]
Chr3:3p24.3
likely benign
Single allele deletion 3p- syndrome [RCV002280352] Chr3:13371737..20095506 [GRCh38]
Chr3:3p25.1-24.3
pathogenic
GRCh37/hg19 3p24.3(chr3:19833713-20933527)x3 copy number gain not provided [RCV000849357] Chr3:19833713..20933527 [GRCh37]
Chr3:3p24.3
uncertain significance
GRCh37/hg19 3p24.3-24.1(chr3:19064852-26448689)x1 copy number loss not provided [RCV000848353] Chr3:19064852..26448689 [GRCh37]
Chr3:3p24.3-24.1
pathogenic
NM_003884.5(KAT2B):c.1861-37T>C single nucleotide variant not provided [RCV001621310] Chr3:20140184 [GRCh38]
Chr3:20181676 [GRCh37]
Chr3:3p24.3
benign
NM_003884.5(KAT2B):c.309G>A (p.Glu103=) single nucleotide variant not provided [RCV001671088] Chr3:20072338 [GRCh38]
Chr3:20113830 [GRCh37]
Chr3:3p24.3
benign
NM_003884.5(KAT2B):c.1157A>G (p.Asn386Ser) single nucleotide variant not provided [RCV001612094] Chr3:20119604 [GRCh38]
Chr3:20161096 [GRCh37]
Chr3:3p24.3
benign
NM_003884.5(KAT2B):c.430+38C>A single nucleotide variant not provided [RCV001673951] Chr3:20072497 [GRCh38]
Chr3:20113989 [GRCh37]
Chr3:3p24.3
benign
NC_000003.12:g.20040068C>T single nucleotide variant not provided [RCV001679823] Chr3:20040068 [GRCh38]
Chr3:20081560 [GRCh37]
Chr3:3p24.3
benign
NM_003884.5(KAT2B):c.669+76A>G single nucleotide variant not provided [RCV001709113] Chr3:20100030 [GRCh38]
Chr3:20141522 [GRCh37]
Chr3:3p24.3
benign
NM_003884.5(KAT2B):c.1044-217A>T single nucleotide variant not provided [RCV001639520] Chr3:20114665 [GRCh38]
Chr3:20156157 [GRCh37]
Chr3:3p24.3
benign
NM_003884.5(KAT2B):c.579C>T (p.Leu193=) single nucleotide variant not provided [RCV001682616] Chr3:20099864 [GRCh38]
Chr3:20141356 [GRCh37]
Chr3:3p24.3
benign
NC_000003.12:g.20039856C>T single nucleotide variant not provided [RCV001716487] Chr3:20039856 [GRCh38]
Chr3:20081348 [GRCh37]
Chr3:3p24.3
benign
NM_003884.5(KAT2B):c.430+97G>A single nucleotide variant not provided [RCV001710502] Chr3:20072556 [GRCh38]
Chr3:20114048 [GRCh37]
Chr3:3p24.3
benign
NM_003884.5(KAT2B):c.577-46A>G single nucleotide variant not provided [RCV001695119] Chr3:20099816 [GRCh38]
Chr3:20141308 [GRCh37]
Chr3:3p24.3
benign
NM_003884.5(KAT2B):c.870C>T (p.Asn290=) single nucleotide variant not provided [RCV000889549] Chr3:20111614 [GRCh38]
Chr3:20153106 [GRCh37]
Chr3:3p24.3
benign
NM_003884.5(KAT2B):c.2004+48C>T single nucleotide variant not provided [RCV001598126] Chr3:20140412 [GRCh38]
Chr3:20181904 [GRCh37]
Chr3:3p24.3
benign
NM_003884.5(KAT2B):c.1414-132G>A single nucleotide variant not provided [RCV001682025] Chr3:20125773 [GRCh38]
Chr3:20167265 [GRCh37]
Chr3:3p24.3
benign
NM_003884.5(KAT2B):c.577-53T>G single nucleotide variant not provided [RCV001595968] Chr3:20099809 [GRCh38]
Chr3:20141301 [GRCh37]
Chr3:3p24.3
benign
NM_003884.5(KAT2B):c.1413+40T>G single nucleotide variant not provided [RCV001639325] Chr3:20122844 [GRCh38]
Chr3:20164336 [GRCh37]
Chr3:3p24.3
benign
NM_003884.5(KAT2B):c.670-173G>A single nucleotide variant not provided [RCV001597963] Chr3:20101114 [GRCh38]
Chr3:20142606 [GRCh37]
Chr3:3p24.3
benign
NM_003884.5(KAT2B):c.1623-40C>G single nucleotide variant not provided [RCV001596297] Chr3:20127383 [GRCh38]
Chr3:20168875 [GRCh37]
Chr3:3p24.3
benign
NM_003884.5(KAT2B):c.2156+87G>A single nucleotide variant not provided [RCV001617365] Chr3:20148086 [GRCh38]
Chr3:20189578 [GRCh37]
Chr3:3p24.3
benign
NM_003884.5(KAT2B):c.304-205G>A single nucleotide variant not provided [RCV001710956] Chr3:20072128 [GRCh38]
Chr3:20113620 [GRCh37]
Chr3:3p24.3
benign
NM_003884.5(KAT2B):c.430+93T>C single nucleotide variant not provided [RCV001656758] Chr3:20072552 [GRCh38]
Chr3:20114044 [GRCh37]
Chr3:3p24.3
benign
NM_003884.5(KAT2B):c.1861-98G>T single nucleotide variant not provided [RCV001653457] Chr3:20140123 [GRCh38]
Chr3:20181615 [GRCh37]
Chr3:3p24.3
benign
NM_003884.5(KAT2B):c.577-89G>C single nucleotide variant not provided [RCV001693921] Chr3:20099773 [GRCh38]
Chr3:20141265 [GRCh37]
Chr3:3p24.3
benign
NM_003884.5(KAT2B):c.1861-229A>T single nucleotide variant not provided [RCV001694378] Chr3:20139992 [GRCh38]
Chr3:20181484 [GRCh37]
Chr3:3p24.3
benign
NM_003884.5(KAT2B):c.577-53T>C single nucleotide variant not provided [RCV001671065] Chr3:20099809 [GRCh38]
Chr3:20141301 [GRCh37]
Chr3:3p24.3
benign
NM_003884.5(KAT2B):c.303+82T>G single nucleotide variant not provided [RCV001615955] Chr3:20040862 [GRCh38]
Chr3:20082354 [GRCh37]
Chr3:3p24.3
benign
NM_003884.5(KAT2B):c.1623-127A>G single nucleotide variant not provided [RCV001679778] Chr3:20127296 [GRCh38]
Chr3:20168788 [GRCh37]
Chr3:3p24.3
benign
NM_003884.5(KAT2B):c.670-70G>T single nucleotide variant not provided [RCV001707883] Chr3:20101217 [GRCh38]
Chr3:20142709 [GRCh37]
Chr3:3p24.3
benign
NM_003884.5(KAT2B):c.670-113T>C single nucleotide variant not provided [RCV001612812] Chr3:20101174 [GRCh38]
Chr3:20142666 [GRCh37]
Chr3:3p24.3
benign
NM_003884.5(KAT2B):c.592A>G (p.Ile198Val) single nucleotide variant Inborn genetic diseases [RCV003355354]|not provided [RCV001812334] Chr3:20099877 [GRCh38]
Chr3:20141369 [GRCh37]
Chr3:3p24.3
uncertain significance
NC_000003.12:g.20039998A>G single nucleotide variant not provided [RCV001673326] Chr3:20039998 [GRCh38]
Chr3:20081490 [GRCh37]
Chr3:3p24.3
benign
NM_003884.5(KAT2B):c.431-110A>T single nucleotide variant not provided [RCV001671302] Chr3:20095153 [GRCh38]
Chr3:20136645 [GRCh37]
Chr3:3p24.3
benign
NM_003884.5(KAT2B):c.1044-189A>G single nucleotide variant not provided [RCV001618034] Chr3:20114693 [GRCh38]
Chr3:20156185 [GRCh37]
Chr3:3p24.3
benign
NM_003884.5(KAT2B):c.431-144C>T single nucleotide variant not provided [RCV001684849] Chr3:20095119 [GRCh38]
Chr3:20136611 [GRCh37]
Chr3:3p24.3
benign
NM_003884.5(KAT2B):c.2119+86C>T single nucleotide variant not provided [RCV001682325] Chr3:20146516 [GRCh38]
Chr3:20188008 [GRCh37]
Chr3:3p24.3
benign
NM_003884.5(KAT2B):c.1044-72T>C single nucleotide variant not provided [RCV001710013] Chr3:20114810 [GRCh38]
Chr3:20156302 [GRCh37]
Chr3:3p24.3
benign
NM_003884.5(KAT2B):c.576+59A>G single nucleotide variant not provided [RCV001652074] Chr3:20095467 [GRCh38]
Chr3:20136959 [GRCh37]
Chr3:3p24.3
benign
NC_000003.12:g.20040433G>A single nucleotide variant not provided [RCV001616641] Chr3:20040433 [GRCh38]
Chr3:20081925 [GRCh37]
Chr3:3p24.3
benign
NM_003884.5(KAT2B):c.431-72T>G single nucleotide variant not provided [RCV001666142] Chr3:20095191 [GRCh38]
Chr3:20136683 [GRCh37]
Chr3:3p24.3
benign
GRCh37/hg19 3p26.3-24.2(chr3:61891-24432821) copy number gain not specified [RCV002053299] Chr3:61891..24432821 [GRCh37]
Chr3:3p26.3-24.2
pathogenic
GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181) copy number gain not specified [RCV002053300] Chr3:61891..36710181 [GRCh37]
Chr3:3p26.3-22.2
pathogenic
NC_000003.11:g.(?_16710965)_(41275270_?)del deletion not provided [RCV001958625] Chr3:16710965..41275270 [GRCh37]
Chr3:3p24.3-22.1
pathogenic
GRCh37/hg19 3p25.1-24.2(chr3:13836340-25357427)x3 copy number gain See cases [RCV002287839] Chr3:13836340..25357427 [GRCh37]
Chr3:3p25.1-24.2
pathogenic
NM_003884.5(KAT2B):c.1323G>T (p.Lys441Asn) single nucleotide variant Inborn genetic diseases [RCV002883957] Chr3:20122714 [GRCh38]
Chr3:20164206 [GRCh37]
Chr3:3p24.3
uncertain significance
NM_003884.5(KAT2B):c.2018T>G (p.Leu673Arg) single nucleotide variant Inborn genetic diseases [RCV002682059] Chr3:20146329 [GRCh38]
Chr3:20187821 [GRCh37]
Chr3:3p24.3
uncertain significance
NM_003884.5(KAT2B):c.1303C>T (p.His435Tyr) single nucleotide variant Inborn genetic diseases [RCV002706914] Chr3:20122694 [GRCh38]
Chr3:20164186 [GRCh37]
Chr3:3p24.3
uncertain significance
NM_003884.5(KAT2B):c.727A>G (p.Thr243Ala) single nucleotide variant Inborn genetic diseases [RCV002951226] Chr3:20101344 [GRCh38]
Chr3:20142836 [GRCh37]
Chr3:3p24.3
uncertain significance
NM_003884.5(KAT2B):c.2060G>C (p.Gly687Ala) single nucleotide variant Inborn genetic diseases [RCV002884862] Chr3:20146371 [GRCh38]
Chr3:20187863 [GRCh37]
Chr3:3p24.3
uncertain significance
NM_003884.5(KAT2B):c.1096G>C (p.Asp366His) single nucleotide variant Inborn genetic diseases [RCV002758969] Chr3:20114934 [GRCh38]
Chr3:20156426 [GRCh37]
Chr3:3p24.3
uncertain significance
NM_003884.5(KAT2B):c.104C>T (p.Ala35Val) single nucleotide variant Inborn genetic diseases [RCV002693011]|KAT2B-related condition [RCV003946404] Chr3:20040581 [GRCh38]
Chr3:20082073 [GRCh37]
Chr3:3p24.3
likely benign|uncertain significance
NM_003884.5(KAT2B):c.763A>C (p.Ile255Leu) single nucleotide variant Inborn genetic diseases [RCV002699946] Chr3:20101380 [GRCh38]
Chr3:20142872 [GRCh37]
Chr3:3p24.3
uncertain significance
NM_003884.5(KAT2B):c.1522A>G (p.Asn508Asp) single nucleotide variant Inborn genetic diseases [RCV002641051] Chr3:20126013 [GRCh38]
Chr3:20167505 [GRCh37]
Chr3:3p24.3
uncertain significance
NM_003884.5(KAT2B):c.65C>T (p.Pro22Leu) single nucleotide variant Inborn genetic diseases [RCV002674646] Chr3:20040542 [GRCh38]
Chr3:20082034 [GRCh37]
Chr3:3p24.3
uncertain significance
NM_003884.5(KAT2B):c.1349C>T (p.Pro450Leu) single nucleotide variant Inborn genetic diseases [RCV002719528] Chr3:20122740 [GRCh38]
Chr3:20164232 [GRCh37]
Chr3:3p24.3
uncertain significance
NM_003884.5(KAT2B):c.797G>A (p.Arg266Gln) single nucleotide variant Inborn genetic diseases [RCV002672954] Chr3:20101414 [GRCh38]
Chr3:20142906 [GRCh37]
Chr3:3p24.3
uncertain significance
NM_003884.5(KAT2B):c.139G>A (p.Gly47Arg) single nucleotide variant Inborn genetic diseases [RCV002934425] Chr3:20040616 [GRCh38]
Chr3:20082108 [GRCh37]
Chr3:3p24.3
uncertain significance
NM_003884.5(KAT2B):c.80C>G (p.Pro27Arg) single nucleotide variant Inborn genetic diseases [RCV002963937]|KAT2B-related condition [RCV003900907] Chr3:20040557 [GRCh38]
Chr3:20082049 [GRCh37]
Chr3:3p24.3
likely benign|uncertain significance
NM_003884.5(KAT2B):c.761G>A (p.Arg254His) single nucleotide variant Inborn genetic diseases [RCV002673262] Chr3:20101378 [GRCh38]
Chr3:20142870 [GRCh37]
Chr3:3p24.3
uncertain significance
NM_003884.5(KAT2B):c.1273C>T (p.Pro425Ser) single nucleotide variant Inborn genetic diseases [RCV003198069] Chr3:20119720 [GRCh38]
Chr3:20161212 [GRCh37]
Chr3:3p24.3
uncertain significance
NM_003884.5(KAT2B):c.59C>T (p.Ala20Val) single nucleotide variant Inborn genetic diseases [RCV003283305] Chr3:20040536 [GRCh38]
Chr3:20082028 [GRCh37]
Chr3:3p24.3
uncertain significance
NM_003884.5(KAT2B):c.2465G>A (p.Ser822Asn) single nucleotide variant Inborn genetic diseases [RCV003197704] Chr3:20152491 [GRCh38]
Chr3:20193983 [GRCh37]
Chr3:3p24.3
uncertain significance
NM_003884.5(KAT2B):c.362C>G (p.Pro121Arg) single nucleotide variant Inborn genetic diseases [RCV003365814] Chr3:20072391 [GRCh38]
Chr3:20113883 [GRCh37]
Chr3:3p24.3
uncertain significance
NM_003884.5(KAT2B):c.218C>T (p.Ala73Val) single nucleotide variant Inborn genetic diseases [RCV003368552] Chr3:20040695 [GRCh38]
Chr3:20082187 [GRCh37]
Chr3:3p24.3
uncertain significance
GRCh37/hg19 3p26.3-24.1(chr3:310747-28297447)x3 copy number gain not provided [RCV003484107] Chr3:310747..28297447 [GRCh37]
Chr3:3p26.3-24.1
pathogenic
NM_003884.5(KAT2B):c.2430C>T (p.Tyr810=) single nucleotide variant KAT2B-related condition [RCV003908940]|not provided [RCV003433501] Chr3:20152456 [GRCh38]
Chr3:20193948 [GRCh37]
Chr3:3p24.3
likely benign
NM_003884.5(KAT2B):c.2290A>G (p.Ile764Val) single nucleotide variant KAT2B-related condition [RCV003400204] Chr3:20148472 [GRCh38]
Chr3:20189964 [GRCh37]
Chr3:3p24.3
uncertain significance
NM_003884.5(KAT2B):c.39_158del (p.Ala14_Gly53del) deletion KAT2B-related condition [RCV003939606] Chr3:20040510..20040629 [GRCh38]
Chr3:20082002..20082121 [GRCh37]
Chr3:3p24.3
likely benign
GRCh37/hg19 3p26.3-22.3(chr3:61891-33946644)x3 copy number gain not specified [RCV003986437] Chr3:61891..33946644 [GRCh37]
Chr3:3p26.3-22.3
pathogenic
NM_003884.5(KAT2B):c.363C>A (p.Pro121=) single nucleotide variant KAT2B-related condition [RCV003941549] Chr3:20072392 [GRCh38]
Chr3:20113884 [GRCh37]
Chr3:3p24.3
likely benign
NM_003884.5(KAT2B):c.2082A>C (p.Gly694=) single nucleotide variant KAT2B-related condition [RCV003979457] Chr3:20146393 [GRCh38]
Chr3:20187885 [GRCh37]
Chr3:3p24.3
likely benign
NM_003884.5(KAT2B):c.139G>C (p.Gly47Arg) single nucleotide variant KAT2B-related condition [RCV003893845] Chr3:20040616 [GRCh38]
Chr3:20082108 [GRCh37]
Chr3:3p24.3
uncertain significance
NM_003884.5(KAT2B):c.327T>C (p.Asn109=) single nucleotide variant KAT2B-related condition [RCV003962219] Chr3:20072356 [GRCh38]
Chr3:20113848 [GRCh37]
Chr3:3p24.3
likely benign
NM_003884.5(KAT2B):c.1957C>T (p.Arg653Trp) single nucleotide variant KAT2B-related condition [RCV003917166] Chr3:20140317 [GRCh38]
Chr3:20181809 [GRCh37]
Chr3:3p24.3
benign
NM_003884.5(KAT2B):c.2306-10dup duplication KAT2B-related condition [RCV003903971] Chr3:20152313..20152314 [GRCh38]
Chr3:20193805..20193806 [GRCh37]
Chr3:3p24.3
benign
NM_003884.5(KAT2B):c.1797G>A (p.Lys599=) single nucleotide variant KAT2B-related condition [RCV003949311] Chr3:20136989 [GRCh38]
Chr3:20178481 [GRCh37]
Chr3:3p24.3
likely benign
NM_003884.5(KAT2B):c.852-5C>T single nucleotide variant KAT2B-related condition [RCV003934620] Chr3:20111591 [GRCh38]
Chr3:20153083 [GRCh37]
Chr3:3p24.3
likely benign
NM_003884.5(KAT2B):c.1431A>C (p.Ala477=) single nucleotide variant KAT2B-related condition [RCV003976334] Chr3:20125922 [GRCh38]
Chr3:20167414 [GRCh37]
Chr3:3p24.3
likely benign
NM_003884.5(KAT2B):c.432T>C (p.Ala144=) single nucleotide variant KAT2B-related condition [RCV003894115] Chr3:20095264 [GRCh38]
Chr3:20136756 [GRCh37]
Chr3:3p24.3
likely benign
NM_003884.5(KAT2B):c.185G>A (p.Gly62Asp) single nucleotide variant KAT2B-related condition [RCV003909636] Chr3:20040662 [GRCh38]
Chr3:20082154 [GRCh37]
Chr3:3p24.3
likely benign
NM_003884.5(KAT2B):c.1397C>T (p.Ala466Val) single nucleotide variant KAT2B-related condition [RCV003897046] Chr3:20122788 [GRCh38]
Chr3:20164280 [GRCh37]
Chr3:3p24.3
uncertain significance
NM_003884.5(KAT2B):c.370G>C (p.Asp124His) single nucleotide variant Inborn genetic diseases [RCV003379281] Chr3:20072399 [GRCh38]
Chr3:20113891 [GRCh37]
Chr3:3p24.3
uncertain significance
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR19Ahsa-miR-19a-3pMirtarbaseexternal_infoWestern blot//Luciferase reporter assayNon-Functional MTI18728182
MIR25hsa-miR-25-3pMirtarbaseexternal_infoWestern blot//Luciferase reporter assayFunctional MTI18728182
MIR181A2hsa-miR-181a-5pMirtarbaseexternal_infoWestern blot//Luciferase reporter assayFunctional MTI18728182
MIR181A2hsa-miR-181a-5pOncomiRDBexternal_infoNANA18728182
MIR19B2hsa-miR-19b-3pMirtarbaseexternal_infoWestern blot//Luciferase reporter assayNon-Functional MTI18728182
MIR19B1hsa-miR-19b-3pMirtarbaseexternal_infoWestern blot//Luciferase reporter assayNon-Functional MTI18728182
MIR181B2hsa-miR-181b-5pMirtarbaseexternal_infoWestern blot//Luciferase reporter assayFunctional MTI18728182
MIR181B2hsa-miR-181b-5pOncomiRDBexternal_infoNANA18728182
MIR93hsa-miR-93-5pMirtarbaseexternal_infoWestern blot//Luciferase reporter assayFunctional MTI18728182
MIR181B1hsa-miR-181b-5pMirtarbaseexternal_infoWestern blot//Luciferase reporter assayFunctional MTI18728182
MIR32hsa-miR-32-5pMirtarbaseexternal_infoWestern blot//Luciferase reporter assayFunctional MTI18728182
MIR106Bhsa-miR-106b-5pMirtarbaseexternal_infoWestern blot//Luciferase reporter assayFunctional MTI18728182
MIR92A2hsa-miR-92a-3pMirtarbaseexternal_infoWestern blot//Luciferase reporter assayNon-Functional MTI18728182
MIR181B1hsa-miR-181b-5pOncomiRDBexternal_infoNANA18728182
MIR181A1hsa-miR-181a-5pMirtarbaseexternal_infoWestern blot//Luciferase reporter assayFunctional MTI18728182
MIR181A1hsa-miR-181a-5pOncomiRDBexternal_infoNANA18728182

Predicted Target Of
Summary Value
Count of predictions:1225
Count of miRNA genes:820
Interacting mature miRNAs:945
Transcripts:ENST00000263754, ENST00000426228, ENST00000468111, ENST00000468400, ENST00000469085
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
RH91328  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37320,195,618 - 20,195,806UniSTSGRCh37
Build 36320,170,622 - 20,170,810RGDNCBI36
Celera320,136,237 - 20,136,425RGD
Cytogenetic Map3p24UniSTS
HuRef320,135,680 - 20,135,868UniSTS
GeneMap99-GB4 RH Map369.36UniSTS
SHGC-82800  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37320,177,489 - 20,177,691UniSTSGRCh37
Build 36320,152,493 - 20,152,695RGDNCBI36
Celera320,118,108 - 20,118,310RGD
Cytogenetic Map3p24UniSTS
HuRef320,117,548 - 20,117,750UniSTS
TNG Radiation Hybrid Map312841.0UniSTS
SHGC-84592  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37320,192,421 - 20,192,735UniSTSGRCh37
Build 36320,167,425 - 20,167,739RGDNCBI36
Celera320,133,040 - 20,133,354RGD
Cytogenetic Map3p24UniSTS
HuRef320,132,482 - 20,132,796UniSTS
TNG Radiation Hybrid Map312835.0UniSTS
SHGC-111194  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37320,174,387 - 20,174,663UniSTSGRCh37
Build 36320,149,391 - 20,149,667RGDNCBI36
Celera320,115,007 - 20,115,283RGD
Cytogenetic Map3p24UniSTS
HuRef320,114,447 - 20,114,723UniSTS
TNG Radiation Hybrid Map312841.0UniSTS
RH48918  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37320,190,335 - 20,190,481UniSTSGRCh37
Build 36320,165,339 - 20,165,485RGDNCBI36
Celera320,130,954 - 20,131,100RGD
Cytogenetic Map3p24UniSTS
HuRef320,130,396 - 20,130,542UniSTS
GeneMap99-GB4 RH Map373.61UniSTS
NCBI RH Map3198.8UniSTS
SHGC-76766  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37320,167,435 - 20,167,562UniSTSGRCh37
Build 36320,142,439 - 20,142,566RGDNCBI36
Celera320,108,052 - 20,108,179RGD
Cytogenetic Map3p24UniSTS
HuRef320,107,277 - 20,107,404UniSTS
TNG Radiation Hybrid Map312863.0UniSTS
GeneMap99-GB4 RH Map375.24UniSTS
Whitehead-RH Map3100.5UniSTS
NCBI RH Map3198.8UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2087 2470 1294 450 1618 290 4022 1978 3584 248 935 1414 162 1135 2732 3
Low 349 520 432 174 333 175 332 217 150 171 525 199 12 1 69 56 3 2
Below cutoff 3 2 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_003884 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005265528 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017007423 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017007424 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047449147 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054348277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054348278 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054348279 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001740351 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_245162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC099057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL832173 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC060823 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC070075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS330046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT585177 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U57317 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000263754   ⟹   ENSP00000263754
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl320,040,446 - 20,154,404 (+)Ensembl
RefSeq Acc Id: ENST00000426228
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl320,040,698 - 20,101,113 (+)Ensembl
RefSeq Acc Id: ENST00000468111
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl320,127,478 - 20,146,581 (+)Ensembl
RefSeq Acc Id: ENST00000468400
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl320,148,240 - 20,149,010 (+)Ensembl
RefSeq Acc Id: ENST00000469085
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl320,111,594 - 20,122,795 (+)Ensembl
RefSeq Acc Id: NM_003884   ⟹   NP_003875
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38320,040,446 - 20,154,404 (+)NCBI
GRCh37320,081,524 - 20,195,896 (+)ENTREZGENE
GRCh37320,081,524 - 20,195,896 (+)NCBI
Build 36320,056,528 - 20,170,900 (+)NCBI Archive
HuRef320,021,882 - 20,135,958 (+)ENTREZGENE
CHM1_1320,033,609 - 20,147,728 (+)NCBI
T2T-CHM13v2.0320,044,513 - 20,158,472 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005265528   ⟹   XP_005265585
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38320,040,446 - 20,154,404 (+)NCBI
GRCh37320,081,524 - 20,195,896 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047449147   ⟹   XP_047305103
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38320,040,446 - 20,154,404 (+)NCBI
RefSeq Acc Id: XM_054348277   ⟹   XP_054204252
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0320,044,513 - 20,158,472 (+)NCBI
RefSeq Acc Id: XM_054348278   ⟹   XP_054204253
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0320,044,513 - 20,158,472 (+)NCBI
RefSeq Acc Id: XM_054348279   ⟹   XP_054204254
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0320,075,468 - 20,158,472 (+)NCBI
RefSeq Acc Id: NP_003875   ⟸   NM_003884
- UniProtKB: Q6NSK1 (UniProtKB/Swiss-Prot),   Q92831 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005265585   ⟸   XM_005265528
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000263754   ⟸   ENST00000263754
RefSeq Acc Id: XP_047305103   ⟸   XM_047449147
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054204253   ⟸   XM_054348278
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054204252   ⟸   XM_054348277
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054204254   ⟸   XM_054348279
- Peptide Label: isoform X2
Protein Domains
Bromo   N-acetyltransferase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q92831-F1-model_v2 AlphaFold Q92831 1-832 view protein structure

Promoters
RGD ID:6863778
Promoter ID:EPDNEW_H5054
Type:initiation region
Name:KAT2B_1
Description:lysine acetyltransferase 2B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H5055  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38320,040,066 - 20,040,126EPDNEW
RGD ID:6863780
Promoter ID:EPDNEW_H5055
Type:initiation region
Name:KAT2B_2
Description:lysine acetyltransferase 2B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H5054  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38320,040,446 - 20,040,506EPDNEW
RGD ID:6801195
Promoter ID:HG_KWN:44027
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000252880,   OTTHUMT00000340005
Position:
Human AssemblyChrPosition (strand)Source
Build 36320,055,801 - 20,057,267 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:8638 AgrOrtholog
COSMIC KAT2B COSMIC
Ensembl Genes ENSG00000114166 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000263754 ENTREZGENE
  ENST00000263754.5 UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.920.10 UniProtKB/Swiss-Prot
  3.40.630.30 UniProtKB/Swiss-Prot
GTEx ENSG00000114166 GTEx
HGNC ID HGNC:8638 ENTREZGENE
Human Proteome Map KAT2B Human Proteome Map
InterPro AcTrfase_GCN5-related_dom UniProtKB/Swiss-Prot
  Acyl_CoA_acyltransferase UniProtKB/Swiss-Prot
  Bromodomain UniProtKB/Swiss-Prot
  Bromodomain-like_sf UniProtKB/Swiss-Prot
  Bromodomain_CS UniProtKB/Swiss-Prot
  GCN5 UniProtKB/Swiss-Prot
  Hist_acetylase_PCAF UniProtKB/Swiss-Prot
  PCAF_N UniProtKB/Swiss-Prot
KEGG Report hsa:8850 UniProtKB/Swiss-Prot
NCBI Gene 8850 ENTREZGENE
OMIM 602303 OMIM
PANTHER HISTONE ACETYLTRANSFERASE KAT2B UniProtKB/Swiss-Prot
  PTHR45750 UniProtKB/Swiss-Prot
Pfam Acetyltransf_1 UniProtKB/Swiss-Prot
  Bromodomain UniProtKB/Swiss-Prot
  PCAF_N UniProtKB/Swiss-Prot
PharmGKB PA162392705 PharmGKB
PIRSF Histone_acetylase_PCAF UniProtKB/Swiss-Prot
PRINTS BROMODOMAIN UniProtKB/Swiss-Prot
PROSITE BROMODOMAIN_1 UniProtKB/Swiss-Prot
  BROMODOMAIN_2 UniProtKB/Swiss-Prot
  GNAT UniProtKB/Swiss-Prot
SMART BROMO UniProtKB/Swiss-Prot
Superfamily-SCOP Acyl_CoA_acyltransferase UniProtKB/Swiss-Prot
  Bromodomain UniProtKB/Swiss-Prot
UniProt KAT2B_HUMAN UniProtKB/Swiss-Prot
  Q6NSK1 ENTREZGENE
  Q92831 ENTREZGENE
UniProt Secondary Q6NSK1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-16 KAT2B  lysine acetyltransferase 2B  KAT2B  K(lysine) acetyltransferase 2B  Symbol and/or name change 5135510 APPROVED