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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 SMAD Signaling Network and Cell Cycle, Mitotic. 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 HDAC11.

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

Additional gene information for HDAC8 Gene

No data available for CIViC summary , 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XH072713 1 ENCODE 18.2 -141.3 -141341 2 ATF1 ARNT SIN3A GLI4 ZNF2 GLIS2 ZNF548 SP3 SP5 TSHZ1 RTL5 CHIC1 HDAC8 PHKA1 ENSG00000273788 GC0XM072728
GH0XH072107 1.7 FANTOM5 Ensembl ENCODE dbSUPER 10.1 +465.1 465109 1 KLF17 RAD21 GLIS2 ATF7 EGR2 CEBPB ZEB2 ZNF398 ZNF781 ZFP69B RTL5 FLJ44635 ZMYM3 NHSL2 HDAC8 OGT PIR32507 PIR46676
GH0XH072094 1.5 FANTOM5 Ensembl ENCODE dbSUPER 10.1 +477.8 477824 1 PKNOX1 MXI1 RFX1 SOX6 TAL1 MAX ELF1 BMI1 ZNF585B MYNN ZMYM3 RTL5 HDAC8 CXCR3 PIR32507 PIR42075
GH0XH072416 0.4 FANTOM5 2.2 +157.0 156978 0 ZNF384 HDAC8 GC0XM072378 RNU2-68P
GH0XH072576 1 Ensembl ENCODE 0.7 -3.6 -3597 0 TBP JUN MAX CEBPG RAD21 BRCA1 RFX5 YY1 FOSL1 NCOR1 HDAC8 LOC100499496
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000247224 402 1799 PKNOX1 ATF1 ARNT ARID4B SIN3A GLI4 ZNF2 YY1 ETS1 TCF12

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

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 posLast=370370
  • Modification sites at PhosphoSitePlus

Antibody Products

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

Protein Products

  • Abcam proteins for HDAC8

No data available for DME Specific Peptides for HDAC8 Gene

Domains & Families for HDAC8 Gene

Gene Families for HDAC8 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

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

Phenotypes From GWAS Catalog for HDAC8 Gene

Gene Ontology (GO) - Molecular Function for HDAC8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003682 chromatin binding IEA --
GO:0004407 histone deacetylase activity TAS 12711221
GO:0005515 protein binding IPI 16809764
GO:0008134 transcription factor binding TAS 12711221
GO:0016787 hydrolase activity IEA --
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

CRISPR Products

miRNA for HDAC8 Gene

miRTarBase miRNAs that target HDAC8

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HDAC8 gene
Compartment Confidence
plasma membrane 5
nucleus 5
cytosol 5
cytoskeleton 3
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleus (3)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for HDAC8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000118 histone deacetylase complex TAS 12711221
GO:0000228 nuclear chromosome TAS 10748112
GO:0005634 nucleus IDA,TAS 12711221
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm 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:0000122 negative regulation of transcription from RNA polymerase II promoter TAS 10748112
GO:0006325 chromatin organization TAS 12711221
GO:0006333 chromatin assembly or disassembly TAS 10748112
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
genes like me logo Genes that share ontologies with HDAC8: view

Drugs & Compounds for HDAC8 Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Belinostat Approved, Investigational Pharma Inhibitor, Target Histone deacetylase (HDAC)inhibitors 42
Panobinostat Approved, Investigational Pharma Inhibition, inhibitor, Target Histone deacetylase (HDAC)inhibitors 136
Vorinostat Approved, Investigational Pharma inhibitor, Target HDAC inhibitor, Histone deacetylase (HDAC)inhibitors 252
Romidepsin Approved, Investigational Pharma inhibitor Histone deacetylase (HDAC)inhibitors 88
Iron Approved Pharma Target, cofactor 1210

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
FK 228
128517-07-7
MC 1742
1776116-74-5
SAHA
149647-78-9

(5) Tocris Compounds for HDAC8 Gene

Compound Action Cas Number
FK 228 Potent and selective class I histone deacetylase inhibitor; antitumor 128517-07-7
MC 1568 Selective HDAC class II (IIa) inhibitor 852475-26-4
MC 1742 Potent class I and IIb HDAC inhibitor 1776116-74-5
SAHA Class I and II HDAC inhibitor 149647-78-9
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:

CRISPR Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for HDAC8 Gene



Protein tissue co-expression partners for HDAC8 Gene

NURSA nuclear receptor signaling pathways regulating expression of HDAC8 Gene:

HDAC8

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.

Evidence on tissue expression from TISSUES for HDAC8 Gene

  • Intestine(4.3)
  • Kidney(4.3)
  • Lung(4.3)
  • Heart(4.2)
  • Nervous system(2.8)

Phenotype-based relationships between genes and organs from Gene ORGANizer for HDAC8 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • inner ear
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • pituitary gland
  • scalp
  • skull
  • tooth
  • vocal cord
Thorax:
  • breast
  • chest wall
  • clavicle
  • diaphragm
  • esophagus
  • heart
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • intestine
  • kidney
  • large intestine
  • liver
  • small intestine
  • stomach
Pelvis:
  • fallopian tube
  • ovary
  • pelvis
  • penis
  • prostate
  • testicle
  • ureter
  • urethra
  • urinary bladder
  • uterus
  • vagina
  • vas deferens
  • vulva
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • coagulation system
  • hair
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with HDAC8: view

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia HDAC8 33
  • 99.09 (n)
dog
(Canis familiaris)
Mammalia HDAC8 33 34
  • 94.69 (n)
cow
(Bos Taurus)
Mammalia HDAC8 33 34
  • 94.43 (n)
rat
(Rattus norvegicus)
Mammalia LOC100911968 33
  • 91.16 (n)
mouse
(Mus musculus)
Mammalia Hdac8 33 16 34
  • 90.89 (n)
oppossum
(Monodelphis domestica)
Mammalia HDAC8 34
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HDAC8 34
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves HDAC8 33 34
  • 80.74 (n)
lizard
(Anolis carolinensis)
Reptilia HDAC8 34
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hdac8 33
  • 74.77 (n)
Str.7570 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.7001 33
zebrafish
(Danio rerio)
Actinopterygii hdac8 33 34
  • 69.41 (n)
wufd19a02 33
worm
(Caenorhabditis elegans)
Secernentea hda-2 34
  • 26 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RPD3 34
  • 35 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 47 (a)
OneToOne
Species where no ortholog for HDAC8 was found in the sources mined by GeneCards:
  • 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
rs397515416 Pathogenic, Cornelia de Lange syndrome 5 (CDLS5) [MIM:300882] 72,495,167(-) TCTGC(A/G)CCATG intron-variant, nc-transcript-variant, reference, missense
rs397515417 Pathogenic, Cornelia de Lange syndrome 5 (CDLS5) [MIM:300882] 72,462,077(-) CAACA(C/T)GGCTC nc-transcript-variant, reference, missense
rs397515418 Pathogenic, Cornelia de Lange syndrome 5 (CDLS5) [MIM:300882] 72,462,008(-) AGATC(A/G)TGAGG nc-transcript-variant, reference, missense
rs398122909 Pathogenic, Cornelia de Lange syndrome 5 (CDLS5) [MIM:300882] 72,462,051(-) TGACC(A/G)GGGTC nc-transcript-variant, reference, missense
rs398122888 Pathogenic 72,572,052(-) GGTAA(A/G)TTGTC intron-variant

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

Variant ID Type Subtype PubMed ID
esv2244642 CNV deletion 18987734
nsv1140038 CNV duplication 24896259
nsv1151874 CNV duplication 26484159
nsv474567 CNV novel sequence insertion 20440878
nsv476265 CNV novel sequence insertion 20440878
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

Human Gene Mutation Database (HGMD)
HDAC8
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HDAC8

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

Disorders for HDAC8 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
cornelia de lange syndrome 5
  • cdls5
wilson-turner syndrome
  • mental retardation, x-linked, syndromic 6
cornelia de lange syndrome
  • brachmann de lange syndrome
microcephaly
  • microcephalus
mental retardation, x-linked, syndromic, wilson-turner type
  • wilson-turner syndrome
- 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 SU (FEBS letters 2000) 2 3 4 22 60
  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 HK (Journal of medical genetics 2012) 2 3 4 60
  3. Structural studies of human histone deacetylase 8 and its site-specific variants complexed with substrate and inhibitors. (PMID: 19053282) Dowling DP … Christianson DW (Biochemistry 2008) 3 4 22 60
  4. Histone deacetylase 8 safeguards the human ever-shorter telomeres 1B (hEST1B) protein from ubiquitin-mediated degradation. (PMID: 16809764) Lee H … Seto E (Molecular and cellular biology 2006) 3 4 22 60
  5. Negative regulation of histone deacetylase 8 activity by cyclic AMP-dependent protein kinase A. (PMID: 14701748) Lee H … Seto E (Molecular and cellular biology 2004) 3 4 22 60

Products for HDAC8 Gene

  • Addgene plasmids for HDAC8

Sources for HDAC8 Gene

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