Sign in to NCBI
Format

Send to:

Choose Destination

HDAC8 histone deacetylase 8 [ Homo sapiens (human) ]

Gene ID: 55869, updated on 5-Jan-2022

Summary

Go to the top of the page Help
Official Symbol
HDAC8provided by HGNC
Official Full Name
histone deacetylase 8provided by HGNC
Primary source
HGNC:HGNC:13315
See related
Ensembl:ENSG00000147099 MIM:300269
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HD8; WTS; RPD3; CDA07; CDLS5; KDAC8; MRXS6; HDACL1
Summary
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]
Expression
Ubiquitous expression in adrenal (RPKM 3.9), thyroid (RPKM 3.1) and 25 other tissues See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See HDAC8 in Genome Data Viewer
Location:
Xq13.1
Exon count:
17
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (72329516..72573099, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (71549366..71792693, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373250 Neighboring gene ribosomal protein S4 X-linked Neighboring gene Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 1 Neighboring gene RNA, U2 small nuclear 68, pseudogene Neighboring gene phosphorylase kinase regulatory subunit alpha 1 Neighboring gene MATR3 pseudogene 1 Neighboring gene PHKA1 antisense RNA 1

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Go to the top of the pageHelp

Related articles in PubMed

  1. HDAC8 Activates AKT through Upregulating PLCB1 and Suppressing DESC1 Expression in MEK1/2 Inhibition-Resistant Cells. Ha SD, et al. Cells, 2021 May 4. PMID 34064422, Free PMC Article
  2. Structural analysis of histone deacetylase 8 mutants associated with Cornelia de Lange Syndrome spectrum disorders. Osko JD, et al. J Struct Biol, 2021 Mar. PMID 33316326,
  3. Histone deacetylase 8 inhibition suppresses mantle cell lymphoma viability while preserving natural killer cell function. Watters JM, et al. Biochem Biophys Res Commun, 2021 Jan 1. PMID 33190829, Free PMC Article
  4. Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome. Dyment DA, et al. Am J Med Genet A, 2021 Jan. PMID 33098347, Free PMC Article
  5. A distal regulatory region of a class I human histone deacetylase. Werbeck ND, et al. Nat Commun, 2020 Jul 31. PMID 32737323, Free PMC Article

See all (133) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Structural analysis of histone deacetylase 8 mutants associated with Cornelia de Lange Syndrome spectrum disorders.
    Title: Structural analysis of histone deacetylase 8 mutants associated with Cornelia de Lange Syndrome spectrum disorders.
  2. HDAC8 Activates AKT through Upregulating PLCB1 and Suppressing DESC1 Expression in MEK1/2 Inhibition-Resistant Cells.
    Title: HDAC8 Activates AKT through Upregulating PLCB1 and Suppressing DESC1 Expression in MEK1/2 Inhibition-Resistant Cells.
  3. Association of HDAC8 Expression with Pathological Findings in Triple Negative and Non-Triple Negative Breast Cancer: Implications for Diagnosis.
    Title: Association of HDAC8 Expression with Pathological Findings in Triple Negative and Non-Triple Negative Breast Cancer: Implications for Diagnosis.
  4. Exploring the binding mechanism of HDAC8 selective inhibitors: Lessons from the modification of Cap group.
    Title: Exploring the binding mechanism of HDAC8 selective inhibitors: Lessons from the modification of Cap group.
  5. Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome.
    Title: Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome.
  6. NBM-BMX, an HDAC8 Inhibitor, Overcomes Temozolomide Resistance in Glioblastoma Multiforme by Downregulating the beta-Catenin/c-Myc/SOX2 Pathway and Upregulating p53-Mediated MGMT Inhibition.
    Title: NBM-BMX, an HDAC8 Inhibitor, Overcomes Temozolomide Resistance in Glioblastoma Multiforme by Downregulating the β-Catenin/c-Myc/SOX2 Pathway and Upregulating p53-Mediated MGMT Inhibition.
  7. Histone deacetylase 8 inhibition suppresses mantle cell lymphoma viability while preserving natural killer cell function.
    Title: Histone deacetylase 8 inhibition suppresses mantle cell lymphoma viability while preserving natural killer cell function.
  8. HDAC8-dependent deacetylation of PKM2 directs nuclear localization and glycolysis to promote proliferation in hepatocellular carcinoma.
    Title: HDAC8-dependent deacetylation of PKM2 directs nuclear localization and glycolysis to promote proliferation in hepatocellular carcinoma.
  9. FLT3 inhibition upregulates HDAC8 via FOXO to inactivate p53 and promote maintenance of FLT3-ITD+ acute myeloid leukemia.
    Title: FLT3 inhibition upregulates HDAC8 via FOXO to inactivate p53 and promote maintenance of FLT3-ITD+ acute myeloid leukemia.
  10. miR-483-3p suppresses the proliferation and progression of human triple negative breast cancer cells by targeting the HDAC8>oncogene.
    Title: miR-483-3p suppresses the proliferation and progression of human triple negative breast cancer cells by targeting the HDAC8>oncogene.
Submit: New GeneRIF Correction See all GeneRIFs (102)

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Cornelia de Lange syndrome 5
MedGen: C3550903 OMIM: 300882 GeneReviews: Cornelia de Lange Syndrome
Compare labs
De Lange syndrome
MedGen: C0270972 GeneReviews: Cornelia de Lange Syndrome
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2018-03-28)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2018-03-28)

ClinGen Genome Curation PagePubMed

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

Go to the top of the page Help

Protein interactions

Protein Gene Interaction Pubs
Vpr vpr HIV-1 Vpr depletes HDAC1, 2, 3 and 8 to overcome HIV-1 proviral latency in macrophages PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA-binding transcription factor binding TAS
Traceable Author Statement
more info
 PubMed 
enables Hsp70 protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables Hsp90 protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables NAD-dependent histone deacetylase activity (H3-K14 specific) IEA
Inferred from Electronic Annotation
more info
  
enables histone deacetylase activity IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
enables histone deacetylase activity TAS
Traceable Author Statement
more info
 PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in chromatin assembly or disassembly TAS
Traceable Author Statement
more info
 PubMed 
involved_in chromatin organization TAS
Traceable Author Statement
more info
 PubMed 
involved_in negative regulation of protein ubiquitination IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of transcription by RNA polymerase II TAS
Traceable Author Statement
more info
 PubMed 
involved_in regulation of cohesin loading IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of protein stability IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of telomere maintenance IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in sister chromatid cohesion IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in cytoplasm TAS
Traceable Author Statement
more info
 PubMed 
part_of histone deacetylase complex IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
part_of histone deacetylase complex TAS
Traceable Author Statement
more info
 PubMed 
located_in nuclear chromosome TAS
Traceable Author Statement
more info
 PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
located_in nucleus TAS
Traceable Author Statement
more info
 PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
  

General protein information

Go to the top of the page Help
Preferred Names
histone deacetylase 8
Names
histone deacetylase-like 1
NP_001159890.1
NP_001159891.1
NP_001159892.1
NP_001159894.1
NP_001159920.1
NP_060956.1
XP_011529288.3
XP_016885129.2
XP_016885130.2
XP_016885131.1
XP_016885132.1
XP_016885133.1
XP_016885134.1
XP_016885135.1
XP_016885136.2
XP_024308173.1

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_015851.1 RefSeqGene

    Range
    5261..248588
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001166418.2 → NP_001159890.1  histone deacetylase 8 isoform 2

    See identical proteins and their annotated locations for NP_001159890.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks two alternate exons in the 5' coding region, compared to variant 1, resulting in a protein (isoform 2) that maintains the reading frame but is shorter, compared to isoform 1.
    Source sequence(s)
    AK296641, BC050433
    Consensus CDS
    CCDS55449.1
    UniProtKB/Swiss-Prot
    Q9BY41
    Related
    ENSP00000362691.4, ENST00000373589.9
    Conserved Domains (1) summary
    cl17011
    Location:16 → 286
    Arginase_HDAC; Arginase-like and histone-like hydrolases

  2. NM_001166419.2 → NP_001159891.1  histone deacetylase 8 isoform 3

    See identical proteins and their annotated locations for NP_001159891.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks several alternate 3' exons and uses an alternate 3' terminal exon, compared to variant 1. The encoded isoform (3) has a shorter and distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AK074326
    Consensus CDS
    CCDS55451.1
    UniProtKB/Swiss-Prot
    Q9BY41
    Related
    ENSP00000414486.2, ENST00000439122.7
    Conserved Domains (1) summary
    cl17011
    Location:16 → 246
    Arginase_HDAC; Arginase-like and histone-like hydrolases

  3. NM_001166420.2 → NP_001159892.1  histone deacetylase 8 isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks a large portion of the 3' coding region and has a distinct 3' UTR, compared to variant 1. The encoded isoform (5) has a shorter C-terminus, compared to isoform 1.
    Source sequence(s)
    AI651236, BF514915, BQ189619
    Consensus CDS
    CCDS55450.1
    UniProtKB/Swiss-Prot
    Q9BY41
    Related
    ENSP00000362655.1, ENST00000373554.6
    Conserved Domains (1) summary
    cl17011
    Location:16 → 146
    Arginase_HDAC; Arginase-like and histone-like hydrolases

  4. NM_001166422.2 → NP_001159894.1  histone deacetylase 8 isoform 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks multiple alternate 3' exons and uses an alternate 3' terminal exon, compared to variant 1. The encoded isoform (5) has a shorter and distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AI651236, AI916593, BP229332
    Consensus CDS
    CCDS55452.1
    UniProtKB/Swiss-Prot
    Q9BY41
    Related
    ENSP00000362657.3, ENST00000373556.8
    Conserved Domains (1) summary
    cl17011
    Location:16 → 147
    Arginase_HDAC; Arginase-like and histone-like hydrolases

  5. NM_001166448.2 → NP_001159920.1  histone deacetylase 8 isoform 6

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) lacks multiple alternate coding exons and uses an alternate 3' terminal exon, compared to variant 1. The encoded isoform (3) maintains the reading frame, but is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AK074326, BP229332, BQ632790
    Consensus CDS
    CCDS55448.1
    UniProtKB/Swiss-Prot
    Q9BY41
    Related
    ENSP00000362660.4, ENST00000373559.8
    Conserved Domains (1) summary
    cl17011
    Location:16 → 129
    Arginase_HDAC; Arginase-like and histone-like hydrolases

  6. NM_018486.3 → NP_060956.1  histone deacetylase 8 isoform 1

    See identical proteins and their annotated locations for NP_060956.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AJ277724, BC050433, BP229332
    Consensus CDS
    CCDS14420.1
    UniProtKB/Swiss-Prot
    Q9BY41
    Related
    ENSP00000362674.3, ENST00000373573.9
    Conserved Domains (1) summary
    cd10000
    Location:16 → 377
    HDAC8; Histone deacetylase 8 (HDAC8)

RNA

  1. NR_051952.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) lacks an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK298767, BC050433, DC352390
    Related
    ENST00000650471.1

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    72329516..72573099 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017029644.2 → XP_016885133.1  histone deacetylase 8 isoform X6

  2. XM_017029642.1 → XP_016885131.1  histone deacetylase 8 isoform X4

    Related
    ENSP00000497568.1, ENST00000647654.1

  3. XM_017029643.2 → XP_016885132.1  histone deacetylase 8 isoform X5

  4. XM_017029641.2 → XP_016885130.2  histone deacetylase 8 isoform X3

    Related
    ENSP00000362685.2, ENST00000373583.6
    Conserved Domains (1) summary
    cd10000
    Location:16 → 351
    HDAC8; Histone deacetylase 8 (HDAC8)

  5. XM_017029640.2 → XP_016885129.2  histone deacetylase 8 isoform X2

    Conserved Domains (1) summary
    cd10000
    Location:16 → 345
    HDAC8; Histone deacetylase 8 (HDAC8)

  6. XM_011530986.3 → XP_011529288.3  histone deacetylase 8 isoform X1

    Related
    ENSP00000497188.1, ENST00000647886.1
    Conserved Domains (1) summary
    cd10000
    Location:16 → 371
    HDAC8; Histone deacetylase 8 (HDAC8)

  7. XM_024452405.1 → XP_024308173.1  histone deacetylase 8 isoform X10

    Conserved Domains (1) summary
    cl17011
    Location:1 → 176
    Arginase_HDAC; Arginase-like and histone-like hydrolases

  8. XM_017029646.1 → XP_016885135.1  histone deacetylase 8 isoform X8

  9. XM_017029645.2 → XP_016885134.1  histone deacetylase 8 isoform X7

    Conserved Domains (1) summary
    cl17011
    Location:54 → 315
    Arginase_HDAC; Arginase-like and histone-like hydrolases

  10. XM_017029647.2 → XP_016885136.2  histone deacetylase 8 isoform X9

    Related
    ENSP00000498144.1, ENST00000650126.1
    Conserved Domains (1) summary
    cl17011
    Location:16 → 220
    Arginase_HDAC; Arginase-like and histone-like hydrolases

RNA

  1. XR_938402.3 RNA Sequence

    Related
    ENST00000647594.1

  2. XR_001755711.2 RNA Sequence

    Related
    ENST00000648855.1

  3. XR_002958780.1 RNA Sequence

    Related
    ENST00000648939.1

  4. XR_002958781.1 RNA Sequence

    Related
    ENST00000648504.1

  5. XR_002958783.1 RNA Sequence

  6. XR_002958779.1 RNA Sequence

  7. XR_002958782.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9BY41.2 GenPept UniProtKB/Swiss-Prot:Q9BY41

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Medical
Molecular Biology Databases
Research Materials
Tools
Miscellaneous
You are here: NCBI > Genes & Expression > Gene
Support Center