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HDAC8 Gene

protein-coding   GIFtS: 69
GCID: GC0XM071549

Histone Deacetylase 8

(Previous names: histone deacetylase-like 1, Wilson-Turner X-linked mental...)
(Previous symbols: HDACL1, WTS, MRXS6)
  See HDAC8-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Histone Deacetylase 81 2     HD82 3
HDACL11 2 3     CDLS52 5
MRXS61 2 5     RPD32
WTS1 2 5     Wilson-Turner Syndrome (Mental Retardation, X-Linked, Syndromic-6, With
Gynecomastia And Obesity)2
Histone Deacetylase-Like 11 2     EC 3.5.1.983
Wilson-Turner X-Linked Mental Retardation Syndrome1 2     

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


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for HDAC8 Gene:
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)

GeneCards Summary for HDAC8 Gene:
HDAC8 (histone deacetylase 8) is a protein-coding gene. Diseases associated with HDAC8 include cornelia de lange syndrome 5, and turner syndrome. GO annotations related to this gene include NAD-dependent histone deacetylase activity (H3-K9 specific) and transcription factor binding. An important paralog of this gene is HDAC1.

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 Gene:
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 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000023.10  NT_011651.18  NC_018934.2  
Regulatory elements:
   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 plasmidHDAC8 promoter sequence
   Search Chromatin IP Primers for HDAC8

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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)
Selected 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: A6ND12 A6ND61 A6NET3 A6NJR3 A8MQ62 B4DKN0 B4DV22 Q86VC8 Q9NP76 Q9NYH4
Alternative splicing: 8 isoforms:  Q9BY41-1   Q9BY41-2   Q9BY41-3   Q9BY41-4   Q9BY41-5   Q9BY41-6   Q9BY41-7   Q9BY41-8   
(No experimental confirmation available)

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

Explore proteomics data for HDAC8 at MOPED

Post-translational modifications: 

  • Phosphorylated by PKA on serine 39. Phosphorylation reduces deacetylase activity observed preferentially on
    histones H3 and H41
  • Ubiquitination2 at Lys370
  • Modification sites at PhosphoSitePlus

  • See HDAC8 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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: 
     ENSP00000362685   ENSP00000362674   ENSP00000362669   ENSP00000416489   ENSP00000396424  
     ENSP00000400180   ENSP00000362672   ENSP00000414486   ENSP00000362661   ENSP00000362660  
     ENSP00000398997   ENSP00000362657   ENSP00000362655   ENSP00000409778   ENSP00000362691  
     ENSP00000388459   ENSP00000362662  
    Reactome Protein details: Q9BY41

    HDAC8 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for HDAC8 (Histone Deacetylase 8/HDAC8)
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    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for HDAC8
    OriGene Custom MassSpec
    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
    Sino Biological Cell Lysate for HDAC8
    ProSpec Recombinant Protein for HDAC8
    Cloud-Clone Corp. Proteins for HDAC8

     
    Search eBioscience for Proteins for HDAC8 

    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 for HDAC8
    OriGene Custom Antibody Services for HDAC8
    Novus Biologicals HDAC8 Antibodies
    Abcam antibodies for HDAC8
    Cloud-Clone Corp. Antibodies for HDAC8
    ThermoFisher Antibodies for HDAC8
    LSBio Antibodies in human, mouse, rat for HDAC8

    HDAC8 Assay Products:

    EMD Millipore Kits and Assays for the Analysis of HDAC8
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    Enzo Life Sciences assays for HDAC8
    Cloud-Clone Corp. ELISAs for HDAC8
    Cloud-Clone Corp. CLIAs for HDAC8
    Search eBioscience for ELISAs for HDAC8 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     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 domains:
    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


    Find genes that share domains with HDAC8           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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): Selected molecular function terms (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--
         
    Find genes that share ontologies with HDAC8           About GenesLikeMe


    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/body 
     mortality/aging  nervous system  normal  skeleton 

    Find genes that share phenotypes with HDAC8           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Hdac8tm1.2Eno for HDAC8

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for HDAC8
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for HDAC8

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for HDAC8
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for HDAC8

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

    Block miRNA regulation of human, mouse, rat HDAC8 using miScript Target Protectors
    Selected qRT-PCR 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 plasmidHDAC8 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for HDAC8
    Predesigned siRNA for gene silencing in human, mouse, rat HDAC8

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for HDAC8

    Clone
    Products:
         
    OriGene clones in human, mouse for HDAC8 (see all 27)
    OriGene ORF clones in mouse, rat for HDAC8
    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
    Addgene plasmids for HDAC8 

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for HDAC8
    Browse ESI BIO Cell Lines and PureStem Progenitors for HDAC8 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HDAC8


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    HDAC8_HUMAN, Q9BY41: Nucleus. Cytoplasm. Note=Excluded from the nucleoli. Found in the cytoplasm of cells showing
    smooth muscle differentiation
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol4
    cytoskeleton3
    peroxisome1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000118histone deacetylase complex TAS12711221
    GO:0000228nuclear chromosome TAS10748112
    GO:0005634nucleus TAS12711221
    GO:0005737cytoplasm TAS12711221
    GO:0005829cytosol TAS--

    Find genes that share ontologies with HDAC8           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for HDAC8 About   (see all 27)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1p53 Signaling
    p53 Signaling0.38
    p53 Pathway0.38
    2Signaling by NOTCH1 PEST Domain Mutants in Cancer
    Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants0.79
    Constitutive Signaling by NOTCH1 PEST Domain Mutants0.79
    Signaling by NOTCH1 PEST Domain Mutants in Cancer0.79
    Signaling by NOTCH1 t(7;9)(NOTCH1-M1580 K2555) Translocation Mutant0.79
    Signaling by NOTCH1 in Cancer0.79
    FBXW7 Mutants and NOTCH1 in Cancer0.79
    Signaling by NOTCH10.79
    NOTCH1 Intracellular Domain Regulates Transcription0.68
    3Mitotic Metaphase and Anaphase
    Mitotic Anaphase0.94
    Mitotic Metaphase and Anaphase0.93
    Separation of Sister Chromatids0.94
    4Cell Cycle, Mitotic
    Cell Cycle, Mitotic0.90
    M Phase0.62
    Cell Cycle0.90
    5Mitotic Prometaphase
    Mitotic Prometaphase0.92
    Resolution of Sister Chromatid Cohesion0.92


    Find genes that share SuperPaths with HDAC8           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe 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

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

    2 Sino Biological Pathways for HDAC8
        Notch Signaling Pathway
    p53 Pathway

    5 Reactome Pathways for HDAC8
        Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
    NOTCH1 Intracellular Domain Regulates Transcription
    Resolution of Sister Chromatid Cohesion
    Separation of Sister Chromatids
    Constitutive Signaling by NOTCH1 PEST Domain Mutants


    2 Kegg Pathways  (Kegg details for HDAC8):
        Alcoholism
    Viral carcinogenesis

        Pathway & Disease-focused RT2 Profiler PCR Arrays including HDAC8: 
              Epigenetic Chromatin Modification Enzymes in human mouse rat
              Cancer Drug Targets in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for HDAC8

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

    Selected Interacting proteins for HDAC8 (Q9BY412, 3 ENSP000003626744) via UniProtKB, MINT, STRING, and/or I2D (see all 208)
    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): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter TAS10748112
    GO:0000278mitotic cell cycle TAS--
    GO:0006333chromatin assembly or disassembly TAS10748112
    GO:0006351transcription, DNA-templated IEA--
    GO:0007062sister chromatid cohesion IMP--

    Find genes that share ontologies with HDAC8           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Enzo Life Sciences drugs & compounds for HDAC8
    Selected ApexBio Compounds for HDAC8 (see all 29)     About this table
    CompoundAction CAS #
    AR-42 (OSU-HDAC42)Pan-HDAC inhibitor[935881-37-1]
    Belinostat (PXD101)Novel and potent hydroxamate-type HDAC inhibitor[414864-00-9]
    CI994 (Tacedinaline)HDAC1 and 3 inhibitor[112522-64-2]
    CUDC-101Multitargeted HDAC inhibitor[1012054-59-9]
    CUDC-907PI3K and HDAC inhibitor[1339928-25-4]
    DroxinostatSelective HDAC inhibitor[99873-43-5]
    Entinostat (MS-275,SNDX-275)Entinostat inhibits HDAC1 and HDAC3 but not HDAC8[209783-80-2]
    ITF2357 (Givinostat)HDAC inhibitor, inhibits class I and class II HDACs[732302-99-7]
    JNJ-26481585Potent pan-HDAC inhibitor[875320-29-9]
    LAQ824 (NVP-LAQ824,Dacinostat)Novel and potent HDAC inhibitor[404951-53-7]

    Compounds for HDAC8 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    TCS HDAC6 20bSelective HDAC6 inhibitor[956154-63-5]
    LMK 235Selective HDAC4/HDAC5 inhibitor[1418033-25-6]
    Trichostatin AHistone deacetylase inhibitor[58880-19-6]
    TubacinHDAC6 inhibitor; inhibits alpha-tubulin deacetylation[1350555-93-9]
    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----



    Find genes that share compounds with HDAC8           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 20):
    ENST00000373583 ENST00000373573(uc011mqe.2 uc004eau.3 uc011mqg.2 uc011mqf.2 uc010nlk.2)
    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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    Selected qRT-PCR 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
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    Predesigned siRNA for gene silencing in human, mouse, rat HDAC8
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    Additional mRNA 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 

    Selected AceView cDNA sequences (see all 164):

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

    GeneLoc Exon Structure


    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    HDAC8 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    HDAC8 Expression
    About this image


    HDAC8 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    HDAC8 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    HDAC8 Protein Expression

    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

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    (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)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for HDAC8 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hdac81 , 5 histone deacetylase 81, 5 90.89(n)1
    96.29(a)1
      X (45.28 cM)5
    703151  NM_027382.31  NP_081658.11 
     1022846395 
    chicken
    (Gallus gallus)
    Aves HDAC81 histone deacetylase 8 80.74(n)
    89.72(a)
      422182  XM_420178.4  XP_420178.1 
    lizard
    (Anolis carolinensis)
    Reptilia HDAC86
    histone deacetylase 8
    76(a)
    1 ↔ 1
    GL343686.1(244762-253496)
    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 
    worm
    (Caenorhabditis elegans)
    Secernentea hda-26
    Protein HDA-2 (hda-2) mRNA, complete cds
    26(a)
    1 ↔ 1
    II(8020779-8022561) WBGene00001835
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes RPD36
    Histone deacetylase; regulates transcription, sile...
    35(a)
    1 → many
    XIV(18001-19302) YNL330C


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for HDAC8 gene
    HDAC12  HDAC22  HDAC32  
    4 SIMAP similar genes for HDAC8 using alignment to 12 protein entries:     HDAC8_HUMAN (see all proteins):
    HDAC3    HDAC2    HDAC1    HDAC9

    Find genes that share paralogs with HDAC8           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for HDAC8 (see all 2610)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0691434
    Cornelia de Lange syndrome 5 (CDLS5)4--see VAR_0691432 H R mis40--------
    VAR_0691404
    Cornelia de Lange syndrome 5 (CDLS5)4--see VAR_0691402 H R mis40--------
    VAR_0691414
    Cornelia de Lange syndrome 5 (CDLS5)4--see VAR_0691412 T M mis40--------
    VAR_0691424
    Cornelia de Lange syndrome 5 (CDLS5)4--see VAR_0691422 G R mis40--------
    rs59027051,2
    C--71552993(+) CTAAC-/CTCAAA 6 -- int10--------
    rs1499197081,2
    --71554483(+) CTCATC/GTCTCC 3 -- ds50010--------
    rs29842871,2
    C--71554496(+) TTATCC/TCCCAT 3 -- ds50010--------
    rs1841095271,2
    --71554604(+) AGCATC/TCTTTC 3 -- ds50010--------
    rs30126671,2
    C,F,H--71554784(-) AGAAGG/ACCAAG 3 -- ds500110Minor allele frequency- A:0.01NS EA NA 1178
    rs1437175091,2
    --71554797(+) CCCAAG/TAACTT 3 -- ds50010--------

    HapMap Linkage Disequilibrium report for HDAC8 (71549366 - 71792953 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for HDAC8:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2244642CNV Deletion18987734
    nsv6957CNV Insertion18451855

    Human Gene Mutation Database (HGMD): HDAC8
    Locus Specific Mutation Databases (LSDB): HDAC8

    Site Specific Mutation Identification with PCR Assays
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    (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.)
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    OMIM gene information: 300269   
    OMIM disorders: 309585  300882  
    UniProtKB/Swiss-Prot: HDAC8_HUMAN, Q9BY41
  • 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. Note=The disease is caused
    by mutations affecting the gene represented in this entry
  • 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. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • 9 diseases for HDAC8:    
    About MalaCards
    cornelia de lange syndrome 5    turner syndrome    wilson-turner syndrome    hdac8-related cornelia de lange syndrome
    wilson-turner x-linked mental retardation syndrome    cornelia de lange syndrome    arc syndrome    cornelia de lange syndrome 1
    obesity

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

    Find genes that share disorders with HDAC8           About GenesLikeMe

    3 Novoseek inferred 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)

    Genetic Association Database (GAD): HDAC8
    Human Genome Epidemiology (HuGE) Navigator: HDAC8 (3 documents)

    Export disorders for HDAC8 gene to outside databases

    (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)
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    PubMed articles for HDAC8 gene, integrated from 10 sources (see all 76):
    (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. (FEBS Lett. 2000)
    2. 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, 3 Harakalova M.... Ploos van Amstel H.K. (J. Med. Genet. 2012)
    3. 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. (Genomics 2000)
    4. 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. (J. Biol. Chem. 2000)
    5. Negative regulation of histone deacetylase 8 activity by cyclic AMP- dependent protein kinase A. (PubMed id 14701748)1, 2, 9 Lee H.... Seto E. (Mol. Cell. Biol. 2004)
    6. Cloning and characterization of a novel human histone deacetylase, HDAC8. (PubMed id 10926844)1, 2, 9 Buggy J.J....Clark J.M. (Biochem. J. 2000)
    7. 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. (Biochemistry 2008)
    8. 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. (Mol. Cell. Biol. 2006)
    9. 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. (Mol. Cell. Biol. 2003)
    10. HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle. (PubMed id 22885700)1, 2 Deardorff M.A....Shirahige K. (Nature 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

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

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for HDAC8 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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