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-termi... See more...

Aliases for HDAC8 Gene

Aliases for HDAC8 Gene

  • Histone Deacetylase 8 2 3 4 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
  • KDAC8 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 Cornelia De Lange Syndrome 1. Among its related pathways are Mitotic Metaphase and Anaphase and Jak/STAT Signaling Pathway Intracellular Regulation. Gene Ontology (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 ENSG00000285547.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for HDAC8 Gene

Genomics for HDAC8 Gene

GeneHancer (GH) Regulatory Elements for HDAC8 Gene

Promoters and enhancers for HDAC8 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ072571 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 +0.6 602 2.6 ZBTB40 ZNF217 TCF12 POLR2G SP1 SIX5 ZFX ZNF639 ZBTB11 TCF7 ENSG00000285547 HDAC8 lnc-PHKA1-1 FAM226B piR-45471-660
GH0XJ072713 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 9.8 -141.1 -141097 3.2 ZSCAN5C NRF1 POLR2G PHF8 ZFX ZNF639 ZIC2 ZBTB26 MYC ZEB1 PHKA1 CHIC1 RTL5 NAP1L2 HDAC8 lnc-FAM236B-1
GH0XJ072416 Enhancer 0.3 FANTOM5 2.2 +157.0 156977 0.1 ZNF384 HDAC8 piR-47086-346 RF00004-131 RNU2-68P lnc-CITED1-1 ENSG00000285547
GH0XJ072576 Enhancer 0.7 ENCODE 0.7 -3.6 -3583 0.2 EP300 NCOR1 TRIM24 BRCA1 CEBPG FOS CEBPB ZBTB33 CHD2 JUN HDAC8 piR-33432-574
GH0XJ072569 Enhancer 0.5 Ensembl 0.7 +3.8 3802 1 CTCF EZH2 FOS TCF7L2 GATA2 GATA3 FAM226B ENSG00000285547 HDAC8 lnc-PHKA1-1 piR-45471-660
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HDAC8 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HDAC8

Top Transcription factor binding sites by QIAGEN in the HDAC8 gene promoter:
  • AML1a
  • AREB6
  • c-Rel
  • Cart-1
  • GATA-2
  • GATA-6
  • p53
  • PPAR-alpha
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for HDAC8 Gene

Genomic Locations for HDAC8 Gene
chrX:72,329,516-72,573,103
(GRCh38/hg38)
Size:
243,588 bases
Orientation:
Minus strand
chrX:71,549,366-71,792,953
(GRCh37/hg19)
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).
    SequenceCaution:
    • Sequence=AAK14930.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence={ECO:0000305};

    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 Lys370
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies 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
  • FDA approved drug targets
  • Predicted intracellular proteins

Protein Domains for HDAC8 Gene

Blocks:
  • Histone deacetylase superfamily signature
  • Histone deacetylase signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for HDAC8 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ58011, highly similar to Histone deacetylase 8 (B4DKN0_HUMAN)
  • cDNA FLJ58211, highly similar to Histone deacetylase 8 (B4DQE7_HUMAN)
  • cDNA FLJ60901, highly similar to Histone deacetylase 8 (B4DV22_HUMAN)
  • Histone deacetylase 8 (HDAC8_HUMAN)

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 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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + N(6)-acetyl-L-lysyl-[histone] = acetate + L-lysyl-[histone]; Xref=Rhea:RHEA:58196, Rhea:RHEA-COMP:9845, Rhea:RHEA-COMP:11338, ChEBI:CHEBI:15377, ChEBI:CHEBI:29969, ChEBI:CHEBI:30089, ChEBI:CHEBI:61930; EC=3.5.1.98;.
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.

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:0004407 histone deacetylase activity IBA,TAS 12711221
GO:0005515 protein binding IPI 16809764
GO:0008134 transcription factor binding TAS 12711221
GO:0016787 hydrolase activity IEA --
GO:0030544 Hsp70 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:
  • Hdac8 Hdac8<tm1.2Eno>
  • Hdac8 Hdac8<tm1a(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

miRNA for HDAC8 Gene

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HDAC8

Clone Products

  • Addgene plasmids for 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
cytoskeleton 4
mitochondrion 2
cytosol 2
extracellular 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Plasma membrane (1)
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 TAS,IDA 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

Pathways by source for HDAC8 Gene

1 R&D Systems pathway for HDAC8 Gene
15 Qiagen pathways for HDAC8 Gene
  • BRCA1 Pathway
  • Cyclins and Cell Cycle Regulation
  • DNA Methylation and Transcriptional Repression
  • Estrogen Pathway
  • G1-S Phase Transition
2 GeneTex pathways for HDAC8 Gene

SIGNOR curated interactions for HDAC8 Gene

Inactivates:
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 by RNA polymerase II TAS 10748112
GO:0006325 chromatin organization TAS 12711221
GO:0006333 chromatin assembly or disassembly TAS 10748112
GO:0007062 sister chromatid cohesion IMP 22885700
GO:0016575 histone deacetylation IEA --
genes like me logo Genes that share ontologies with HDAC8: view

Drugs & Compounds for HDAC8 Gene

(42) 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 Target, inhibitor Histone deacetylase (HDAC)inhibitors 45
Panobinostat Approved, Investigational Pharma Target, inhibitor, Inhibition Histone deacetylase (HDAC)inhibitors 142
Vorinostat Approved, Investigational Pharma Target, inhibitor HDAC inhibitor, Histone deacetylase (HDAC)inhibitors 264
Romidepsin Approved, Investigational Pharma inhibitor Histone deacetylase (HDAC)inhibitors 97
Ferrous ascorbate Approved Pharma Target 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Valproic acid, sodium salt
1069-66-5

(3) Tocris Compounds for HDAC8 Gene

Compound Action Cas Number
Apicidin Potent histone deacetylase inhibitor 183506-66-3
PCI 34051 Potent and selective HDAC8 inhibitor 950762-95-5
Valproic acid, sodium salt Histone deacetylase inhibitor 1069-66-5

(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

mRNA/cDNA for HDAC8 Gene

6 REFSEQ mRNAs :
19 NCBI additional mRNA sequence :
60 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HDAC8

Clone Products

  • Addgene plasmids for HDAC8

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

No ASD Table

Relevant External Links for HDAC8 Gene

GeneLoc Exon Structure for
HDAC8

Expression for HDAC8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for HDAC8 Gene



Protein tissue co-expression partners for HDAC8 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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
Regions:
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

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 30
  • 99.09 (n)
dog
(Canis familiaris)
Mammalia HDAC8 31 30
  • 94.69 (n)
OneToOne
cow
(Bos Taurus)
Mammalia HDAC8 31 30
  • 94.43 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC100911968 30
  • 91.16 (n)
mouse
(Mus musculus)
Mammalia Hdac8 17 31 30
  • 90.89 (n)
oppossum
(Monodelphis domestica)
Mammalia HDAC8 31
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HDAC8 31
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves HDAC8 31 30
  • 80.74 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HDAC8 31
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hdac8 30
  • 74.77 (n)
Str.7570 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.7001 30
zebrafish
(Danio rerio)
Actinopterygii hdac8 31 30
  • 69.41 (n)
OneToOne
wufd19a02 30
worm
(Caenorhabditis elegans)
Secernentea hda-2 31
  • 26 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RPD3 31
  • 35 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for HDAC8: view image

Paralogs for HDAC8 Gene

(4) SIMAP similar genes for HDAC8 Gene using alignment to 12 proteins:

  • HDAC8_HUMAN
  • A6NFW1_HUMAN
  • A6NGJ7_HUMAN
  • A6NGT0_HUMAN
  • A6NMT1_HUMAN
  • B4DQE7_HUMAN
  • C9J8F0_HUMAN
  • E7ENE4_HUMAN
  • E7EVA8_HUMAN
  • E7EW22_HUMAN
  • F8WCG4_HUMAN
  • F8WDK0_HUMAN
genes like me logo Genes that share paralogs with HDAC8: view

Variants for HDAC8 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HDAC8 Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
675128 Benign: not provided 72,572,611(-) A/C INTRON_VARIANT
681696 Benign: not provided 72,569,020(-) T/C INTRON_VARIANT
689725 Likely Pathogenic: Cornelia de Lange syndrome 5 72,464,700(-) G/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
691250 Likely Pathogenic: Intellectual disability 72,495,240(-) T/C MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
691251 Pathogenic: Intellectual disability 72,490,995(-) C/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for HDAC8 Gene

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)

Additional Variant Information for HDAC8 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for HDAC8 Gene

MalaCards: The human disease database

(10) MalaCards diseases for HDAC8 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- 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.

Additional Disease Information for HDAC8

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 23 54
  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 54
  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 23 54
  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 23 54
  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 23 54

Products for HDAC8 Gene

  • Addgene plasmids for HDAC8

Sources for HDAC8 Gene