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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

HDAC8 Gene

protein-coding   GIFtS: 67
GCID: GC0XM071549

histone deacetylase 8

(Previous name: histone deacetylase-like 1 )
(Previous symbol: HDACL1)
 Explore 9 diseases affiliated with
HDAC8 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for HDAC8    

Aliases
for HDAC8 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Histone Deacetylase 81 2     CDLS52
HDACL11 2 3     MRXS62
RPD31 2     WTS2
Histone Deacetylase-Like 11 2     EC 3.5.1.983
HD82 3     

External Ids:    HGNC: 133151   Entrez Gene: 558692   Ensembl: ENSG000001470997   OMIM: 3002695   UniProtKB: Q9BY413   

Export aliases for HDAC8 gene to outside databases

Previous GC identifers: GC0XM067276 GC0XM068784 GC0XM069782 GC0XM070416 GC0XM071332 GC0XM071466 GC0XM065303


Summaries
for HDAC8 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for HDAC8:
Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone
acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein
encoded by this gene belongs to class I of the histone deacetylase family. It catalyzes the deacetylation of lysine
residues in the histone N-terminal tails and represses transcription in large multiprotein complexes with
transcriptional co-repressors. Multiple transcript variants encoding different isoforms have been found for this gene.
(provided by RefSeq, Oct 2009)

UniProtKB/Swiss-Prot: HDAC8_HUMAN, Q9BY41
Function: Responsible for the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B,
H3 and H4). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional
regulation, cell cycle progression and developmental events. Histone deacetylases act via the formation of large
multiprotein complexes. Also involved in the deacetylation of cohesin complex protein SMC3 regulating release of
cohesin complexes from chromatin. May play a role in smooth muscle cell contractility

summary for HDAC8:
Histone Deacetylases (HDACs) are a group of enzymes closely related to sirtuins. They catalyze the removal
of acetyl groups from lysine residues in histones and non-histone proteins, resulting in transcriptional
repression. In general, they do not act autonomously but as components of large multiprotein complexes, such
as pRb-E2F and mSin3A, that mediate important transcription regulatory pathways. There are three classes of
HDACs; classes 1, 2 and 4, which are closely related Zn2+-dependent enzymes. HDACs are ubiquitously
expressed and they can exist in the nucleus or cytosol. Their subcellular localization is effected by
protein-protein interactions (for example HDAC-14.3.3 complexes are retained in the cytosol) and by the
class to which they belong (class 1 HDACs are predominantly nuclear whilst class 2 HDACs shuttle between the
nucleus and cytosol). HDACs have a role in cell growth arrest, differentiation and death and this has led to
substantial interest in HDAC inhibitors as possible antineoplastic agents.

Gene Wiki entry for HDAC8


Genomic Views
for HDAC8 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NC_018934.1  NT_011669.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the HDAC8 gene promoter:
         AML1a   p53   GATA-2   PPAR-alpha   AREB6   PPAR-gamma1   c-Rel   GATA-6   Cart-1   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: HDAC8 promoter sequence
   Search SABiosciences Chromatin IP Primers for HDAC8

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HDAC8


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xq13   Ensembl cytogenetic band:  Xq13.1   HGNC cytogenetic band: Xq13

HDAC8 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HDAC8 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM071549:  view genomic region     (about GC identifiers)

Start:
 71,549,366 bp from pter      End:
 71,792,953 bp from pter
Size:
 243,588 bases      Orientation:
 minus strand

Proteins
for HDAC8 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: HDAC8_HUMAN, Q9BY41 (See protein sequence)
Recommended Name: Histone deacetylase 8  
Size: 377 amino acids; 41758 Da
Cofactor: Binds 1 divalent metal cation per subunit
Subunit: Interacts with PEPB2-MYH11, a fusion protein consisting of the 165 N-terminal residues of CBF-beta (PEPB2)
with the tail region of MYH11 produced by the inversion Inv(16)(p13q22), a translocation associated with acute myeloid
leukemia of M4EO subtype. The PEPB2-MYH1 fusion protein also interacts with RUNX1, a well known transcriptional
regulator, suggesting that the interaction with HDAC8 may participate in the conversion of RUNX1 into a constitutive
transcriptional repressor. Interacts with CBFA2T3. Interacts with phosphorylated SMG5/EST1B; this interaction protects
SMG5 from ubiquitin-mediated degradation. Associates with alpha-SMA (smooth muscle alpha-actin)
Subcellular location: Nucleus. Cytoplasm. Note=Excluded from the nucleoli. Found in the cytoplasm of cells showing
smooth muscle differentiation
6/21 PDB 3D structures from and Proteopedia for HDAC8 (see all 21):
1T64 (3D)        1T67 (3D)        1T69 (3D)        1VKG (3D)        1W22 (3D)        2V5W (3D)    
Secondary accessions: A6NET3 A8MQ62 B4DKN0 B4DV22 Q86VC8 Q9NP76 Q9NYH4
Alternative splicing: 5 isoforms:  Q9BY41-1   Q9BY41-2   Q9BY41-3   Q9BY41-4   Q9BY41-5   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for HDAC8: NX_Q9BY41

Post-translational modifications:

  • Phosphorylated by PKA on serine 39. Phosphorylation reduces deacetylase activity observed preferentially on histones H3
    • and H41
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9BY41

    • HDAC8 Protein expression data from MOPED and PaxDb:    About this image 
    HDAC8 Protein Expression
    REFSEQ proteins (6 alternative transcripts): 
    NP_001159890.1  NP_001159891.1  NP_001159892.1  NP_001159894.1  NP_001159920.1  NP_060956.1  

    ENSEMBL proteins: 
     ENSP00000362674   ENSP00000362685   ENSP00000362669   ENSP00000416489   ENSP00000396424  
     ENSP00000400180   ENSP00000362672   ENSP00000414486   ENSP00000362661   ENSP00000362660  
     ENSP00000398997   ENSP00000362657   ENSP00000362655   ENSP00000409778   ENSP00000362691  
     ENSP00000388459   ENSP00000362662  
    Reactome Protein details: Q9BY41
    Human Recombinant Protein Products for HDAC8: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for HDAC8 (Histone Deacetylase 8/HDAC8)
    Enzo Life Sciences proteins for HDAC8
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate (see all 2): HDAC8
    OriGene Custom Protein Services for HDAC8 
    GenScript Custom Purified and Recombinant Proteins Services for HDAC8
    Novus Biologicals HDAC8 Proteins
    Novus Biologicals HDAC8 Lysates
    Sino Biological Recombinant Protein for HDAC8
    ProSpec Recombinant Protein for HDAC8
    Uscn Proteins for HDAC8

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000118histone deacetylase complex TAS12711221
    GO:0000228nuclear chromosome TAS10748112
    GO:0005634nucleus TAS12711221
    GO:0005737cytoplasm TAS12711221

    HDAC8 for ontologies           About GeneDecksing



    HDAC8 Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of HDAC8
    R&D Systems Antibodies for HDAC8 (Histone Deacetylase 8/HDAC8)
    OriGene Antibodies (see all 2): HDAC8
    OriGene Custom Antibody Services for HDAC8 
    GenScript Custom Superior Antibodies Services for HDAC8
    Novus Biologicals HDAC8 Antibodies
    Abcam antibodies for HDAC8 
    Uscn Antibodies for HDAC8
    ThermoFisher Antibodies for HDAC8

    Assay Products for HDAC8: 
    EMD Millipore Kits and Assays for the Analysis of HDAC8
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for HDAC8
    Enzo Life Sciences assays for HDAC8
    Uscn ELISAs and CLIAs for HDAC8

    Protein Domains /
    Families
    for HDAC8 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HDAC8 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR000286 His_deacetylse
     IPR003084 His_deacetylse_1
     IPR023801 His_deacetylse_dom

    Graphical View of Domain Structure for InterPro Entry Q9BY41

    ProtoNet protein and cluster: Q9BY41

    2 Blocks protein families:
    IPB000286 Histone deacetylase superfamily signature
    IPB003084 Histone deacetylase signature


    UniProtKB/Swiss-Prot: HDAC8_HUMAN, Q9BY41
    Similarity: Belongs to the histone deacetylase family. HD type 1 subfamily


    Function
    for HDAC8 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Molecular Function:

         UniProtKB/Swiss-Prot Summary: HDAC8_HUMAN, Q9BY41
    Function: Responsible for the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B,
    H3 and H4). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional
    regulation, cell cycle progression and developmental events. Histone deacetylases act via the formation of large
    multiprotein complexes. Also involved in the deacetylation of cohesin complex protein SMC3 regulating release of
    cohesin complexes from chromatin. May play a role in smooth muscle cell contractility
    Catalytic activity: Hydrolysis of an N(6)-acetyl-lysine residue of a histone to yield a deacetylated histone
    Enzyme regulation: Its activity is inhibited by trichostatin A (TSA), suberoylanilide hydroxamic acid (SAHA),
    3-(1-methyl-4-phenylacetyl-1H-2-pyrrolyl)-N-hydroxy-2-propenamide (APHA),
    4-dimethylamino-N-(6-hydroxycarbamoyethyl)benzamide-N-hydroxy-7-(4-dimethylaminobenzoyl)aminoheptanamide (MS-344),
    5-(4-methyl-benzoylamino)-biphenyl-3,4'-dicarboxylic acid 3-dimethylamide 4'-hydroxyamide (CRA-A) and butyrate

         Enzyme Number (IUBMB): EC 3.5.1.981

         Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004407histone deacetylase activity TAS12711221
    GO:0008134transcription factor binding TAS12711221
    GO:0016787hydrolase activity ----
    GO:0032041NAD-dependent histone deacetylase activity (H3-K14 specific) IEA--
    GO:0046872metal ion binding IEA--
         
    HDAC8 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for HDAC8:
     Increased G1 DNA content 

         9 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Hdac8):
     cardiovascular system  cellular  craniofacial  embryogenesis  growth/size 
     mortality/aging  nervous system  normal  skeleton 

    HDAC8 for phenotypes           About GeneDecksing

    Animal Models:
         Mouse knock-out Hdac8tm1.2Eno for HDAC8
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for HDAC8 

    miRNA
    Products:            		miRTarBase miRNAs that target HDAC8:
    hsa-mir-449a (MIRT003761)

    OriGene 3'-UTR Clone: HDAC8
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat HDAC8
    8/15 QIAGEN miScript miRNA Assays for microRNAs that regulate HDAC8 (see all 15):
    hsa-miR-3163 hsa-miR-22 hsa-miR-607 hsa-miR-3140-3p hsa-miR-875-3p hsa-miR-330-5p hsa-miR-3692 hsa-miR-4261
    SwitchGear 3'UTR luciferase reporter plasmid: HDAC8 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for HDAC8 (see all 7)
    OriGene shRNA RFP: HDAC8
    OriGene siRNA: HDAC8
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HDAC8
    Sirion Biotech Custom design and validation of potent shRNA sequences against HDAC8 

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for HDAC8
    Sirion Biotech Customized adenovirus for overexpression of HDAC8 
    Sirion Biotech Customized adenovirus for potent knockdown of HDAC8

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for HDAC8 (see all 8)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for HDAC8 (see all 6)
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 6): HDAC8 (NM_018486)
    Sino Biological Human cDNA Clone for HDAC8
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HDAC8
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HDAC8 

    Cell Line
    Products:             		GenScript Custom overexpressing Cell Line Services for HDAC8
    Search LifeMap BioReagents cell lines for HDAC8
    Sirion Biotech Customized stable knockdown cell line services for HDAC8 
    Sirion Biotech Customized inducible knockdown cell line services for HDAC8
    Sirion Biotech Customized stable overexpressing cell line services for HDAC8
    Sirion Biotech Customized inducible overexpressing cell line services for HDAC8

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HDAC8


    Pathways & Interactions
    for HDAC8 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/23 super-pathways (see all 23) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Signaling by NOTCH1 t(7 9)(NOTCH1:M1580_K2555) Translocation Mutant
    8/12 pathways (see all 12)
    		Signaling by NOTCH1 t(7 9)(NOTCH1:M1580_K2555) Translocation Mutant1.00
    		Signaling by NOTCH11.00
    		Signaling by NOTCH1 PEST Domain Mutants in Cancer1.00
    		Constitutive Signaling by NOTCH1 PEST Domain Mutants0.79
    		Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer1.00
    		Signaling by NOTCH0.77
    		Signaling by NOTCH1 in Cancer1.00
    		Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants0.71
    2M Phase
    		M Phase1.00
    		Mitotic Anaphase0.85
    		Mitotic M-M/G1 phases0.88
    		Separation of Sister Chromatids0.80
    		Mitotic Metaphase and Anaphase0.85
    3Resolution of Sister Chromatid Cohesion
    		Resolution of Sister Chromatid Cohesion1.00
    		Mitotic Prometaphase0.93
    4Cell Cycle
    		Cell Cycle1.00
    		Cell Cycle, Mitotic0.84
    5Integrated Pancreatic Cancer Pathway
    		Integrated Pancreatic Cancer Pathway1.00
    		Integrated Pancreatic Cancer Pathway0.99

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for HDAC8
        Histone modification

    5/15 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for HDAC8 (see all 15)
        DNA Methylation and Transcriptional Repression
    Protein Acetylation and Deacetylation
    BRCA1 Pathway
    Glucocorticoid Receptor Signaling
    Intracellular Calcium Signaling

    5 BioSystems Pathways for HDAC8 
        Cell cycle
    Neural Crest Differentiation
    Integrated Pancreatic Cancer Pathway
    Integrated Pancreatic Cancer Pathway
    Signaling events mediated by HDAC Class I

    5/22        Reactome Pathways for HDAC8 (see all 22)
        Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
    NOTCH1 Intracellular Domain Regulates Transcription
    Mitotic Prometaphase
    Resolution of Sister Chromatid Cohesion
    FBXW7 Mutants and NOTCH1 in Cancer



    HDAC8 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for HDAC8

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/136 Interacting proteins for HDAC8 (Q9BY412, 3 ENSP000003626744) via UniProtKB, MINT, STRING, and/or I2D (see all 136)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST4H4P628053, ENSP000003507674I2D: score=2 STRING: ENSP00000350767
    HIST1H4AP628053, ENSP000003529804I2D: score=2 STRING: ENSP00000352980
    HIST1H4BP628053I2D: score=2 
    HIST1H4CP628053I2D: score=2 
    HIST1H4DP628053I2D: score=2 
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter TAS10748112
    GO:0006333chromatin assembly or disassembly TAS10748112
    GO:0006351transcription, DNA-dependent IEA--
    GO:0007062sister chromatid cohesion IMP--
    GO:0016568chromatin modification TAS12711221

    HDAC8 for ontologies           About GeneDecksing



    Drugs & Compounds
    for HDAC8 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    HDAC8 for compounds           About GeneDecksing

    EMD Millipore small molecules for HDAC8:
    Small Molecule - inhibitor
    Enzo Life Sciences drugs & compounds for HDAC8

    Compounds for HDAC8 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    NCH 51Histone deacetylase inhibitor[848354-66-5]
    SplitomicinSir2p inhibitor[5690-03-9]
    Trichostatin AHistone deacetylase inhibitor[58880-19-6]
    KD 5170Histone deacetylase inhibitor[940943-37-3]
    Sodium 4-PhenylbutyrateHistone deacetylase inhibitor[1716-12-7]

    7 DrugBank Compounds for HDAC8    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    4-Dimethylamino-N-(6-Hydroxycarbamoyethyl)Benzamide-N-Hydroxy-7-(4-Dimethyla Minobenzoyl)Aminoheptanamide-- --target--17139284 17016423 10592235
    7-[4-(Dimethylamino)Phenyl]-N-Hydroxy-4,6-Dimethyl-7-Oxo-2,4-Heptadienamide-- --target--17139284 17016423 10592235
    N-Hydroxy-4-(Methyl{[5-(2-Pyridinyl)-2-Thienyl]Sulfonyl}Amino)Benzamide-- --target--17139284 17016423 10592235
    (2E)-N-hydroxy-3-[1-methyl-4-(phenylacetyl)-1H-pyrrol-2-yl]prop-2-enamide-- --target--10592235
    5-(4-METHYL-BENZOYLAMINO)-BIPHENYL-3,4'-DICARBOXYLIC ACID 3-DIMETHYLAMIDE-4'-HYDROXYAMIDE-- --target--10592235
    7-AMINO-4-METHYL-CHROMEN-2-ONE-- --target--10592235
    VorinostatMK0683 (see all 7)149647-78-9target----

    Search CenterWatch for drugs/clinical trials and news about HDAC8 

    Transcripts
    for HDAC8 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for HDAC8 gene (6 alternative transcripts): 
    NM_001166418.1  NM_001166419.1  NM_001166420.1  NM_001166422.1  NM_001166448.1  NM_018486.2  

    Unigene Cluster for HDAC8:

    Histone deacetylase 8
    Hs.310536  [show with all ESTs]
    Unigene Representative Sequence: NM_001166419
    18/20 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 20):
    ENST00000373573(uc011mqe.2 uc004eau.3 uc011mqg.2 uc011mqf.2 uc010nlk.2)
    ENST00000373583 ENST00000470998 ENST00000373568 ENST00000436675 ENST00000415409
    ENST00000412342 ENST00000373571 ENST00000439122(uc004eav.3 uc022byv.1)
    ENST00000373560 ENST00000373559 ENST00000478743 ENST00000421523 ENST00000373556
    ENST00000373554(uc022byx.1) ENST00000444609 ENST00000486704 ENST00000373589(uc011mqh.2)


    miRNA
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    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat HDAC8
    8/15 QIAGEN miScript miRNA Assays for microRNAs that regulate HDAC8 (see all 15):
    hsa-miR-3163 hsa-miR-22 hsa-miR-607 hsa-miR-3140-3p hsa-miR-875-3p hsa-miR-330-5p hsa-miR-3692 hsa-miR-4261
    SwitchGear 3'UTR luciferase reporter plasmid: HDAC8 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for HDAC8 (see all 7)
    OriGene shRNA RFP: HDAC8
    OriGene siRNA: HDAC8
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HDAC8
    Sirion Biotech Custom design and validation of potent shRNA sequences against HDAC8 
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for HDAC8 (see all 8)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for HDAC8 (see all 6)
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 6): HDAC8 (NM_018486)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HDAC8
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HDAC8 
    Primer
    Products:            		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for HDAC8
    Browse OriGene validated miRNA SYBR primer pairs
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HDAC8
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    Additional cDNA sequence: 

    AF212246.1 AF230097.1 AF245664.1 AJ277724.1 AK054936.1 AK057569.1 AK074326.1 AK294903.1 
    AK296641.1 AK298767.1 AK300895.1 AY429539.1 BC050433.1 NR_051952.1 

    13 DOTS entries:

    DT.441641  DT.95193773  DT.100778833  DT.100025122  DT.121283046  DT.75139019  DT.100735655  DT.91827945 
    DT.91935780  DT.97765112  DT.121283057  DT.91752346  DT.95193776 

    24/164 AceView cDNA sequences (see all 164):

    AY429539 AK057569 BQ066138 F08346 AI161362 BU633026 AI916593 CK300456 
    BE898767 BQ960716 AJ277724 CR611822 AK074326 BE792074 BF514915 BQ642142 
    AL528515 AK054936 BQ189619 BQ063590 BU540619 BQ061945 BG573441 NM_018486 

    GeneLoc Exon Structure


    Expression
    for HDAC8 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    HDAC8 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --
    HDAC8 Expression
    About this image

    HDAC8 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

    5 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BrainMedulla OblongataBrain
    Neural TubeDiencephalic Ventricular ZoneNeural Tube
    Neural TubeMesencephalic Ventricular ZoneNeural Tube
    Neural TubeMetencephalonNeural Tube
    Spinal CordPresumptive Spinal CordSpinal Cord
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See HDAC8 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for HDAC8

    SOURCE GeneReport for Unigene cluster: Hs.310536

    UniProtKB/Swiss-Prot: HDAC8_HUMAN, Q9BY41
    Tissue specificity: Weakly expressed in most tissues. Expressed at higher level in heart, brain, kidney and pancreas
    and also in liver, lung, placenta, prostate and kidney

        SABiosciences Expression via Pathway-Focused PCR Arrays including HDAC8: 
              Epigenetic Chromatin Modification Enzymes in human mouse rat
              Cancer Drug Targets in human mouse rat

    Primer
    Products:    		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for HDAC8
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HDAC8

    Orthologs
    for HDAC8 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of chordates.

    Orthologs for HDAC8 gene from 4/19 species (see all 19)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves HDAC81 histone deacetylase 8 80.74(n)
    89.72(a)    		   422182  XM_420178.3  XP_420178.1 
    lizard
    (Anolis carolinensis)    		 Reptilia HDAC86
    		 --
    		 82(a)
    		 1 ↔ 1
    		 GL343686.1(247086-253177)
    African clawed frog
    (Xenopus laevis)    		 Amphibia Xl.70012 Xenopus laevis transcribed sequence with moderate similarity more 75.69(n)    CA981489.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii wufd19a022 Danio rerio cDNA clone MGC66196 IMAGE5777101, complete more 76.14(n)    BC055541.1 


    ENSEMBL Gene Tree for HDAC8 (if available)
    TreeFam Gene Tree for HDAC8 (if available) 

    Paralogs
    for HDAC8 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for HDAC8 gene
    HDAC12  HDAC22  HDAC32  
    4 SIMAP similar genes for HDAC8 using alignment to 15 protein entries:     HDAC8_HUMAN (see all proteins):
    HDAC3    HDAC1    HDAC2    HDAC9

    HDAC8 for paralogs           About GeneDecksing



    Genomic Variants
    for HDAC8 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2208 NCBI SNPs in HDAC8 are shown (see all 2208)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr X posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1499197081,2
    		--71548882(+) CTCATC/GTCTCC 3 -- ds50010--------
    rs29842871,2
    		C--71548895(+) TTATCC/TCCCAT 3 -- ds50010--------
    rs1841095271,2
    		--71549003(+) AGCATC/TCTTTC 3 -- ds50010--------
    rs30126671,2
    		C,F,H--71549183(-) AGAAGG/ACCAAG 3 -- ds500110Minor allele frequency- A:0.01NS EA NA 1178
    rs1437175091,2
    		--71549196(+) CCCAAG/TAACTT 3 -- ds50010--------
    rs1884545421,2
    		--71549350(+) GAAGAC/TAACGG 3 -- ds50010--------
    rs1816894991,2
    		--71549387(+) TTATTA/TAAAAA 3 -- nc-transcript-variantut310--------
    rs6603921,2
    		C,F,A,H--71549512(+) TGCCTC/GTCAGC 3 -- nc-transcript-variantut31 ese315Minor allele frequency- G:0.30NA EA MN NS WA CSA 851
    rs1852375891,2
    		--71549591(+) AAATAC/TTCCCC 3 -- nc-transcript-variantut310--------
    rs1904139331,2
    		--71549845(+) AAACAC/TGCTGT 3 -- nc-transcript-variantut310--------

    HapMap Linkage Disequilibrium report for HDAC8 (71549366 - 71792953 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for HDAC8
         1 Indel: 47824
    Human Gene Mutation Database (HGMD): HDAC8

    Locus Specific Mutation Databases (LSDB): HDAC8

    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for HDAC8

    Disorders / Diseases
    for HDAC8 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    HDAC8 for disorders           About GeneDecksing

    OMIM gene information: 300269    OMIM disorders: --

    UniProtKB/Swiss-Prot: HDAC8_HUMAN, Q9BY41
  • Defects in HDAC8 are the cause of Cornelia de Lange syndrome 5 (CDLS5) [MIM:300882]. A form of Cornelia de
    • Lange syndrome, a clinically heterogeneous developmental disorder associated with malformations affecting multiple
    systems. It is characterized by facial dysmorphisms, abnormal hands and feet, growth delay, cognitive retardation,
    hirsutism, gastroesophageal dysfunction and cardiac, ophthalmologic and genitourinary anomalies
  • Defects in HDAC8 are the cause of Wilson-Turner X-linked mental retardation syndrome (WTS) [MIM:309585]. A
    • neurologic disorder characterized by severe intellectual disability, dysmorphic facial features, hypogonadism, short
    stature, and truncal obesity. Affected females have a milder phenotype than affected males

    9 diseases for HDAC8:    About MalaCards
    chronic obstructive pulmonary disease    pulmonary disease    huntington's disease    acute leukemia
    leukemia    prostate cancer    breast cancer    neuroblastoma
    prostatitis

    1 disease from the University of Copenhagen DISEASES database for HDAC8:
    Cornelia de Lange syndrome

    3 Novoseek disease relationships for HDAC8 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cancer 27.4 1 10748112 (1)
    leukemia 0 2 17219959 (1)
    tumors 0 6 16538051 (4)

    Human Genome Epidemiology (HuGE) Navigator: HDAC8 (3 documents)

    Export disorders for HDAC8 gene to outside databases

    Publications
    for HDAC8 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for HDAC8 gene, integrated from 9 sources (see all 69):
    (articles sorted by number of sources associating them with HDAC8)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and characterization of human histone deacetylase 8. (PubMed id 10922473)1, 2, 3, 9 Van den Wyngaert I.... Kass S.U. (2000)
    2. Characterization of a highly complex region in Xq13 and mapping of three isodicentric breakpoints associated with preleukemia. (PubMed id 10756090)1, 2, 3 McDonell N.... Chelly J. (2000)
    3. Cloning and characterization of a novel human class I histone deacetylase that functions as a transcription repressor. (PubMed id 10748112)1, 2, 9 Hu E.... Winkler J. (2000)
    4. Negative regulation of histone deacetylase 8 activity by cyclic AMP- dependent protein kinase A. (PubMed id 14701748)1, 2, 9 Lee H.... Seto E. (2004)
    5. Cloning and characterization of a novel human histone deacetylase, HDAC8. (PubMed id 10926844)1, 2, 9 Buggy J.J....Clark J.M. (2000)
    6. Structural studies of human histone deacetylase 8 and its site- specific variants complexed with substrate and inhibitors. (PubMed id 19053282)1, 2, 9 Dowling D.P.... Christianson D.W. (2008)
    7. Histone deacetylase 8 safeguards the human ever-shorter telomeres 1B (hEST1B) protein from ubiquitin-mediated degradation. (PubMed id 16809764)1, 2, 9 Lee H....Seto E. (2006)
    8. The inv(16) fusion protein associates with corepressors via a smooth muscle myosin heavy-chain domain. (PubMed id 12509458)1, 2, 9 Durst K.L.... Hiebert S.W. (2003)
    9. X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face. (PubMed id 22889856)1, 2 Harakalova M.... Ploos van Amstel H.K. (2012)
    10. HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle. (PubMed id 22885700)1, 2 Deardorff M.A....Shirahige K. (2012)

    External Searches for HDAC8 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing HDAC8 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 55869 HGNC: 13315 AceView: HDAC8 Ensembl:ENSG00000147099 euGenes: HUgn55869
    ECgene: HDAC8 H-InvDB: HDAC8

    Other Databases showing HDAC8 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing HDAC8 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for HDAC8 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for HDAC8 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for HDAC8 gene:
    Search GeneIP for patents involving HDAC8

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    Products
    for HDAC8 gene

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    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
    About This Section

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