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Aliases for HDAC8 Gene

Aliases for HDAC8 Gene

  • Histone Deacetylase 8 2 3 5
  • Histone Deacetylase-Like 1 2 3
  • HDACL1 3 4
  • HD8 3 4
  • Wilson-Turner X-Linked Mental Retardation Syndrome 2
  • EC 3.5.1.98 4
  • CDA07 3
  • CDLS5 3
  • MRXS6 3
  • RPD3 3
  • WTS 3

External Ids for HDAC8 Gene

Previous HGNC Symbols for HDAC8 Gene

  • HDACL1
  • WTS
  • MRXS6

Previous GeneCards Identifiers for HDAC8 Gene

  • GC0XM067276
  • GC0XM068784
  • GC0XM069782
  • GC0XM070416
  • GC0XM071332
  • GC0XM071466
  • GC0XM071549
  • GC0XM065303

Summaries for HDAC8 Gene

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 wilson-turner syndrome. Among its related pathways are Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 and Viral carcinogenesis. GO annotations related to this gene include transcription factor binding and NAD-dependent histone deacetylase activity (H3-K9 specific). An important paralog of this gene is HDAC3.

UniProtKB/Swiss-Prot for HDAC8 Gene

  • 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.

Tocris Summary for HDAC8 Gene

  • Histone deacetylases (HDACs) are a group of enzymes closely related to sirtuins. They catalyze acetyl group removal from lysine residues in histones and non-histone proteins, causing transcriptional repression. HDACs are usually components of multiprotein complexes.

Gene Wiki entry for HDAC8 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HDAC8 Gene

Genomics for HDAC8 Gene

Regulatory Elements for HDAC8 Gene

Enhancers for HDAC8 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around HDAC8 on UCSC Golden Path with GeneCards custom track

Promoters for HDAC8 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around HDAC8 on UCSC Golden Path with GeneCards custom track

Genomic Location for HDAC8 Gene

Chromosome:
X
Start:
72,329,516 bp from pter
End:
72,573,103 bp from pter
Size:
243,588 bases
Orientation:
Minus strand

Genomic View for HDAC8 Gene

Genes around HDAC8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HDAC8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HDAC8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HDAC8 Gene

Proteins for HDAC8 Gene

  • Protein details for HDAC8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BY41-HDAC8_HUMAN
    Recommended name:
    Histone deacetylase 8
    Protein Accession:
    Q9BY41
    Secondary Accessions:
    • A6ND12
    • A6ND61
    • A6NET3
    • A6NJR3
    • A8MQ62
    • B4DKN0
    • B4DV22
    • Q86VC8
    • Q9NP76
    • Q9NYH4

    Protein attributes for HDAC8 Gene

    Size:
    377 amino acids
    Molecular mass:
    41758 Da
    Cofactor:
    Name=a divalent metal cation; Xref=ChEBI:CHEBI:60240;
    Quaternary structure:
    • 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).

    Three dimensional structures from OCA and Proteopedia for HDAC8 Gene

    Alternative splice isoforms for HDAC8 Gene

neXtProt entry for HDAC8 Gene

Proteomics data for HDAC8 Gene at MOPED

Post-translational modifications for HDAC8 Gene

  • Phosphorylated by PKA on serine 39. Phosphorylation reduces deacetylase activity observed preferentially on histones H3 and H4.
  • Ubiquitination at Lys 370
  • Modification sites at PhosphoSitePlus

Antibody Products

  • R&D Systems Antibodies for HDAC8 (Histone Deacetylase 8/HDAC8)

No data available for DME Specific Peptides for HDAC8 Gene

Domains & Families for HDAC8 Gene

Graphical View of Domain Structure for InterPro Entry

Q9BY41

UniProtKB/Swiss-Prot:

HDAC8_HUMAN :
  • Belongs to the histone deacetylase family. HD type 1 subfamily.
Family:
  • Belongs to the histone deacetylase family. HD type 1 subfamily.
genes like me logo Genes that share domains with HDAC8: view

Function for HDAC8 Gene

Molecular function for HDAC8 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Hydrolysis of an N(6)-acetyl-lysine residue of a histone to yield a deacetylated histone.
UniProtKB/Swiss-Prot EnzymeRegulation:
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.
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for HDAC8 Gene

Gene Ontology (GO) - Molecular Function for HDAC8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008134 transcription factor binding TAS 12711221
GO:0032041 NAD-dependent histone deacetylase activity (H3-K14 specific) IEA --
GO:0051879 Hsp90 protein binding IPI 16809764
genes like me logo Genes that share ontologies with HDAC8: view
genes like me logo Genes that share phenotypes with HDAC8: view

Human Phenotype Ontology for HDAC8 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for HDAC8 Gene

MGI Knock Outs for HDAC8:

Animal Model Products

  • Taconic Biosciences Mouse Models for HDAC8

miRNA for HDAC8 Gene

miRTarBase miRNAs that target HDAC8

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for HDAC8 Gene

Localization for HDAC8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HDAC8 Gene

Nucleus. Cytoplasm. Note=Excluded from the nucleoli. Found in the cytoplasm of cells showing smooth muscle differentiation.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HDAC8 Gene COMPARTMENTS Subcellular localization image for HDAC8 gene
Compartment Confidence
cytosol 5
nucleus 5
plasma membrane 5
cytoskeleton 3
peroxisome 1

Gene Ontology (GO) - Cellular Components for HDAC8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus TAS 12711221
genes like me logo Genes that share ontologies with HDAC8: view

Pathways & Interactions for HDAC8 Gene

genes like me logo Genes that share pathways with HDAC8: view

SIGNOR curated interactions for HDAC8 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for HDAC8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000278 mitotic cell cycle TAS --
GO:0006333 chromatin assembly or disassembly TAS 10748112
GO:0006351 transcription, DNA-templated IEA --
GO:0007062 sister chromatid cohesion IMP 22885700
GO:0016568 chromatin modification TAS 12711221
genes like me logo Genes that share ontologies with HDAC8: view

Drugs & Compounds for HDAC8 Gene

(34) Drugs for HDAC8 Gene - From: DrugBank, ApexBio, DGIdb, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Vorinostat Approved, Investigational Pharma inhibitor, Target HDAC inhibitor, Histone deacetylase (HDAC)inhibitors 240
Belinostat Approved, Investigational Pharma Inhibitor Histone deacetylase (HDAC)inhibitors 41
Valproic Acid Approved, Investigational Pharma inhibitor HDAC1 inhibitor, Histone deacetylase (HDAC)inhibitors 312
(2E)-N-hydroxy-3-[1-methyl-4-(phenylacetyl)-1H-pyrrol-2-yl]prop-2-enamide Experimental Pharma Target 0
4-Dimethylamino-N-(6-Hydroxycarbamoyethyl)Benzamide-N-Hydroxy-7-(4-Dimethyla Minobenzoyl)Aminoheptanamide Experimental Pharma Target 0

(2) Additional Compounds for HDAC8 Gene - From: Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
NSC 3852
3565-26-2
Sodium 4-Phenylbutyrate
1716-12-7

(5) Tocris Compounds for HDAC8 Gene

Compound Action Cas Number
M 344 Histone deacetylase inhibitor 251456-60-7
NSC 3852 Histone deacetylase inhibitor 3565-26-2
Scriptaid Histone deacetylase inhibitor 287383-59-9
Sodium 4-Phenylbutyrate Histone deacetylase inhibitor 1716-12-7
Trichostatin A Potent histone deacetylase inhibitor 58880-19-6

(4) ApexBio Compounds for HDAC8 Gene

Compound Action Cas Number
Droxinostat Selective HDAC inhibitor 99873-43-5
PCI-24781 (CRA-024781) Pan-HDAC inhibitor 783355-60-2
PCI-34051 HDAC8 inhibitor,potent and selective 950762-95-5
Scriptaid HDAC inhibitor,novel and cell-permeable 287383-59-9
genes like me logo Genes that share compounds with HDAC8: view

Drug Products

Transcripts for HDAC8 Gene

Unigene Clusters for HDAC8 Gene

Histone deacetylase 8:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for HDAC8 Gene

No ASD Table

Relevant External Links for HDAC8 Gene

GeneLoc Exon Structure for
HDAC8
ECgene alternative splicing isoforms for
HDAC8

Expression for HDAC8 Gene

mRNA expression in normal human tissues for HDAC8 Gene

Protein differential expression in normal tissues from HIPED for HDAC8 Gene

This gene is overexpressed in Retina (14.7), Prostate (9.1), Rectum (7.9), Ovary (7.3), and Adipocyte (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for HDAC8 Gene



SOURCE GeneReport for Unigene cluster for HDAC8 Gene Hs.310536

mRNA Expression by UniProt/SwissProt for HDAC8 Gene

Q9BY41-HDAC8_HUMAN
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.
genes like me logo Genes that share expression patterns with HDAC8: view

Protein tissue co-expression partners for HDAC8 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for HDAC8 Gene

Orthologs for HDAC8 Gene

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

Orthologs for HDAC8 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia HDAC8 35
  • 94.43 (n)
  • 95.76 (a)
HDAC8 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HDAC8 35
  • 94.69 (n)
  • 97.35 (a)
HDAC8 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hdac8 35
  • 90.89 (n)
  • 96.29 (a)
Hdac8 16
Hdac8 36
  • 96 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia HDAC8 35
  • 99.09 (n)
  • 99.32 (a)
rat
(Rattus norvegicus)
Mammalia LOC100911968 35
  • 91.16 (n)
  • 96.29 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia HDAC8 36
  • 66 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia HDAC8 36
  • 89 (a)
OneToOne
chicken
(Gallus gallus)
Aves HDAC8 35
  • 80.74 (n)
  • 89.72 (a)
HDAC8 36
  • 86 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HDAC8 36
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hdac8 35
  • 74.77 (n)
  • 80.87 (a)
Str.7570 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.7001 35
zebrafish
(Danio rerio)
Actinopterygii hdac8 35
  • 69.41 (n)
  • 73.4 (a)
hdac8 36
  • 19 (a)
OneToOne
wufd19a02 35
worm
(Caenorhabditis elegans)
Secernentea hda-2 36
  • 26 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RPD3 36
  • 35 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 47 (a)
OneToOne
Species with no ortholog for HDAC8:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for HDAC8 Gene

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

Paralogs for HDAC8 Gene

Paralogs for HDAC8 Gene

genes like me logo Genes that share paralogs with HDAC8: view

Variants for HDAC8 Gene

Sequence variations from dbSNP and Humsavar for HDAC8 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
VAR_069140 Cornelia de Lange syndrome 5 (CDLS5)
VAR_069141 Cornelia de Lange syndrome 5 (CDLS5)
VAR_069142 Cornelia de Lange syndrome 5 (CDLS5)
VAR_069143 Cornelia de Lange syndrome 5 (CDLS5)
rs438751 -- 72,559,704(+) aggag(C/T)gcctc intron-variant

Structural Variations from Database of Genomic Variants (DGV) for HDAC8 Gene

Variant ID Type Subtype PubMed ID
esv2244642 CNV Deletion 18987734
nsv6957 CNV Insertion 18451855

Variation tolerance for HDAC8 Gene

Residual Variation Intolerance Score: 26% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.36; 7.99% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HDAC8 Gene

HapMap Linkage Disequilibrium report
HDAC8
Human Gene Mutation Database (HGMD)
HDAC8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HDAC8 Gene

Disorders for HDAC8 Gene

MalaCards: The human disease database

(5) MalaCards diseases for HDAC8 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
cornelia de lange syndrome 5
  • cdls5
wilson-turner syndrome
  • mental retardation gynecomastia obesity x-linked
hdac8-related cornelia de lange syndrome
cornelia de lange syndrome
  • brachmann de lange syndrome
kbg syndrome
  • short stature, characteristic facies, macrodontia, mental retardation, and skeletal anomalies
- elite association - COSMIC cancer census association via MalaCards
Search HDAC8 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

HDAC8_HUMAN
  • 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. {ECO:0000269 PubMed:22885700}. 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. {ECO:0000269 PubMed:22889856}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for HDAC8

Genetic Association Database (GAD)
HDAC8
Human Genome Epidemiology (HuGE) Navigator
HDAC8
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HDAC8
genes like me logo Genes that share disorders with HDAC8: view

No data available for Genatlas for HDAC8 Gene

Publications for HDAC8 Gene

  1. Cloning and characterization of human histone deacetylase 8. (PMID: 10922473) Van den Wyngaert I. … Kass S.U. (FEBS Lett. 2000) 2 3 4 23 67
  2. X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face. (PMID: 22889856) Harakalova M. … Ploos van Amstel H.K. (J. Med. Genet. 2012) 2 3
  3. Activation and inhibition of histone deacetylase 8 by monovalent cations. (PMID: 20029090) Gantt S.L. … Fierke C.A. (J. Biol. Chem. 2010) 3 23
  4. Histone deacetylase 8 in neuroblastoma tumorigenesis. (PMID: 19118036) Oehme I. … Witt O. (Clin. Cancer Res. 2009) 3 23
  5. Novel structural insights into class I and II histone deacetylases. (PMID: 19355988) Ficner R. (Curr Top Med Chem 2009) 3 23

Products for HDAC8 Gene

Sources for HDAC8 Gene

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