|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
HD8
CDLS5
histone deacetylase 8
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:cancer
Cornelia de Lange syndrome type 5
|
|
gptkbp:biologicalProcess
|
chromatin modification
histone deacetylase activity
transcriptional regulation
|
|
gptkbp:cellularComponent
|
gptkb:nucleus
|
|
gptkbp:discoveredIn
|
2002
|
|
gptkbp:encodes
|
histone deacetylase 8
|
|
gptkbp:Entrez_Gene_ID
|
55869
ENSG00000119042
|
|
gptkbp:expressedIn
|
gptkb:kidney
gptkb:testis
brain
heart
liver
smooth muscle
|
|
gptkbp:fullName
|
gptkb:Histone_deacetylase_8
|
|
gptkbp:function
|
regulates gene expression
catalyzes deacetylation of histones
involved in chromatin remodeling
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
HGNC:14065
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
HDAC8 gene
|
|
gptkbp:inhibitedBy
|
gptkb:trichostatin_A
gptkb:PCI-34051
suberoylanilide hydroxamic acid (SAHA)
|
|
gptkbp:length
|
~23 kb
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_X
|
|
gptkbp:mutationAssociatedWith
|
intellectual disability
developmental delay
craniofacial abnormalities
|
|
gptkbp:numberOfExons
|
11
|
|
gptkbp:OMIM
|
300269
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
Hdac8
|
|
gptkbp:pathway
|
DNA repair
cell cycle regulation
epigenetic regulation
|
|
gptkbp:proteinFamily
|
gptkb:enzyme
histone deacetylase family
|
|
gptkbp:UniProtID
|
gptkb:Q9BY41
|
|
gptkbp:bfsParent
|
gptkb:HDAC8
|
|
gptkbp:bfsLayer
|
8
|