HDAC8 - histone deacetylase 8 Gene

Also Known as HD8; WTS; RPD3; CDA07; CDLS5; KDAC8; MRXS6; HDACL1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 55869

About HDAC8

Cytogenetic location: Xq13.1 Genomic coordinates (GRCh38): X:72,329,516-72,572,843 (from NCBI)

This gene has 60 transcripts (splice variants), 202 orthologues, 10 paralogues and is associated with 5 phenotypes.

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]

HDAC8 Products (27)

mRNA Protein Name
XM_017029641.3 XP_016885130.2 histone deacetylase 8 isoform X3
XM_047442256.1 XP_047298212.1 histone deacetylase 8 isoform X11
XM_047442252.1 XP_047298208.1 histone deacetylase 8 isoform X4
NM_001410730.1 NP_001397659.1 histone deacetylase 8 isoform 11
NR_051952.2
XM_011530986.4 XP_011529288.3 histone deacetylase 8 isoform X1
NM_001166422.2 NP_001159894.1 histone deacetylase 8 isoform 5
NM_018486.3 NP_060956.1 histone deacetylase 8 isoform 1
NM_001166418.2 NP_001159890.1 histone deacetylase 8 isoform 2
XM_017029644.3 XP_016885133.2 histone deacetylase 8 isoform X8
NM_001410725.1 NP_001397654.1 histone deacetylase 8 isoform 7
XM_047442257.1 XP_047298213.1 histone deacetylase 8 isoform X13
XM_017029647.3 XP_016885136.2 histone deacetylase 8 isoform X12
XR_938402.4
XM_047442255.1 XP_047298211.1 histone deacetylase 8 isoform X10
NM_001410727.1 NP_001397656.1 histone deacetylase 8 isoform 8
NM_001410729.1 NP_001397658.1 histone deacetylase 8 isoform 10
NM_001410728.1 NP_001397657.1 histone deacetylase 8 isoform 9
XM_017029640.3 XP_016885129.2 histone deacetylase 8 isoform X2
XM_017029643.3 XP_016885132.2 histone deacetylase 8 isoform X7
XM_017029645.3 XP_016885134.2 histone deacetylase 8 isoform X9
XM_017029642.2 XP_016885131.2 histone deacetylase 8 isoform X5
XM_047442253.1 XP_047298209.1 histone deacetylase 8 isoform X6
NM_001166419.2 NP_001159891.1 histone deacetylase 8 isoform 3
NM_001166448.2 NP_001159920.1 histone deacetylase 8 isoform 6
NM_001166420.2 NP_001159892.1 histone deacetylase 8 isoform 4
XM_047442252.1 XP_047298208.1 histone deacetylase 8 isoform X2
Molecular Function GO Annotation Evidence References Source
enables Hsp70 protein binding IPI
IPI: Inferred from physical interaction
16809764 GOA
enables Hsp90 protein binding IPI
IPI: Inferred from physical interaction
16809764 GOA
enables histone deacetylase activity IDA
IDA: Inferred from direct assay
28497810 GOA
enables histone decrotonylase activity IDA
IDA: Inferred from direct assay
28497810 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
16809764 GOA
enables protein lysine deacetylase activity IDA
IDA: Inferred from direct assay
22885700 GOA
Biological Process GO Annotation Evidence References Source
involved in mitotic sister chromatid cohesion IMP
IMP: Inferred from mutant phenotype
22885700 GOA
involved in negative regulation of protein ubiquitination IDA
IDA: Inferred from direct assay
16809764 GOA
involved in regulation of protein stability IDA
IDA: Inferred from direct assay
16809764 GOA
involved in regulation of telomere maintenance IMP
IMP: Inferred from mutant phenotype
16809764 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

HDAC8 Protein Structure

Hist_deacetyl

Hist_deacetyl: Histone deacetylase domain (27 - 322)

  • 0
  • 100
  • 200
  • 300
  • 377 a.a.
Protein Preferred Names Protein Names

histone deacetylase 8

  • histone deacetylase-like 1

  • protein deacetylase HDAC8

  • protein decrotonylase HDAC8

HDAC8 Antibodies

Cat. No. Product Name Application Reactivity
HY-P83249 HDAC8 Antibody (YA2994) WB, IP Human
HY-P83249A HDAC8 Antibody (YA2994)(PBS only) WB, IP Human

Related Diseases

Diseases Alias
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
  • Wilson-Turner Syndrome

  • WTS

  • Mrxs6

  • Mental Retardation, X-Linked, Syndromic 6

  • Mental Retardation, X-Linked, With Gynecomastia And Obesity

  • X-Linked Intellectual Disability-Gynecomastia-Obesity Syndrome

  • Mrxswt

  • Wilson-Turner X-Linked Mental Retardation Syndrome

  • Wilson Turner Mental Retardation Syndrome

  • X-Linked Intellectual Disability - Gynecomastia - Obesity

Familial Isolated Trichomegaly
  • Long Eyelashes

  • Tcmgly

Chromosome 16p13.3 Deletion Syndrome, Proximal
  • Rubinstein-Taybi Syndrome

  • Broad Thumb-Hallux Syndrome

  • Chromosome 16p13.3 Deletion Syndrome

  • Rubinstein-Taybi Syndrome Due To 16p13.3 Microdeletion

  • Rubinstein Syndrome

  • Broad Thumbs-Halluces Syndrome

  • Rsts

  • Rubinstein-Taybi Deletion Syndrome

  • Rsts Deletion Syndrome

  • Proximal Chromosome 16p13.3 Deletion Syndrome

  • 16p13.3 Deletion Syndrome

  • Broad Thumbs And Great Toes, Characteristic Facies, And Mental Retardation

  • Rts

Kbg Syndrome
  • KBGS

  • Macrodontia, Mental Retardation, Characteristic Facies, Short Stature, And Skeletal Anomalies

  • Short Stature, Characteristic Facies, Macrodontia, Mental Retardation, And Skeletal Anomalies

  • Short Stature-Characteristic Facies-Mental Retardation-Macrodontia-Skeletal Anomalies Syndrome

  • Short Stature-Facial And Skeletal Anomalies-Intellectual Disability-Macrodontia Syndrome

Roberts-Sc Phocomelia Syndrome
  • Roberts Syndrome

  • Sc Phocomelia Syndrome

  • RBS

  • Long Bone Deficiencies Associated With Cleft Lip-Palate

  • Sc Pseudothalidomide Syndrome

  • Appelt-Gerken-Lenz Syndrome

  • Pseudothalidomide Syndrome

  • Hypomelia Hypotrichosis Facial Hemangioma Syndrome

  • Tetraphocomelia-Cleft Palate Syndrome

  • Roberts Syndrome/Sc Phocomelia

  • Roberts Tetraphocomelia Syndrome

  • Sc Syndrome

  • Sc Phocomelia

  • Sc Disease

  • Sc

  • Hemoglobin Sc Disease

Rett Syndrome
  • Atypical Rett Syndrome

  • RTT

  • Rts

  • Autism, Dementia, Ataxia, And Loss Of Purposeful Hand Use

  • Rett Syndrome, Atypical

  • Rett Syndrome, Preserved Speech Variant

  • Rett'S Disorder

  • Rett Syndrome Variant

  • Rett Disorder

  • Cerebroatrophic Hyperammonemia

  • Rett Like Syndrome

  • Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use Syndrome

  • Rett'S Syndrome

  • Atypical Rtt

  • Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use

  • Rett Syndrome Preserved Speech Variant

  • Rett Syndrome Zappella Variant

  • Rett Syndrome, Zappella Variant

Polycystic Kidney Disease
  • Polycystic Kidney Diseases

  • Pkd

  • Polycystic Renal Disease

  • Kidney Disease, Polycystic

  • Polycystic Kidney, Autosomal Dominant

Chronic Atrial And Intestinal Dysrhythmia
  • CAID

  • Caid Syndrome

  • Cohesinopathy Affecting Heart And Gut Rhythm

  • Chronic Atrial Intestinal Dysrhythmia Syndrome

  • Chronic Atrial And Intestinal Dysrhythmia Syndrome

  • Chronic Atrial Dysrhythmia-Intestinal Motility Disorder

  • Dysrhythmia, Atrial And Intestinal, Chronic

Cornelia De Lange Syndrome
  • De Lange Syndrome

  • Brachmann De Lange Syndrome

  • Brachmann-De Lange Syndrome

  • Cdls

  • Bdls

  • Typus Degenerativus Amstelodamensis

Fanconi Anemia, Complementation Group C
  • Fanconi Anemia Complementation Group C

  • FANCC

  • Facc

  • Fac

  • Fa3

  • Fanconi Pancytopenia Type 3

  • Fanconi Pancytopenia, Type 3

  • Faces Syndrome

  • Facial Features , Anorexia, Cachexia, Eye And Skin Anomalies

  • Friedman-Goodman Syndrome

  • Abnormality Of The Face

Cornelia De Lange Syndrome 5
  • CDLS5

  • Cornelia De Lange Syndrome, Type 5

Cornelia De Lange Syndrome 1
  • De Lange Syndrome

  • CDLS1

  • Cdl

  • Cdls

  • Typus Degenerativus Amstelodamensis

  • Brachmann-De Lange Syndrome

  • Bdls

  • Amstelodamensis Typus Degenerativus

  • Cornelia De Lange Syndrome, Type 1

Mature T-Cell And Nk-Cell Lymphoma
  • Mature T-Cell And Natural Killer Cell Lymphoma

  • Nk-T Cell Lymphoma

Microcephaly
  • Microencephaly

  • Microcephalus

  • Microcephalic

  • Nanocephaly

  • Congenital Microcephaly

  • Brain Hypoplasia

  • Brain Nondevelopment

  • Cephalic Hypoplasia

  • Undeveloped Cerebrum

  • Undeveloped Brain

  • Micrencephalon

  • Micrencephaly

Syndactyly, Type Iii
  • Syndactyly Type 3

  • SDTY3

  • Ring And Little Finger Syndactyly

  • Syndactyly Of Fingers Iv And V

  • Syndactyly Of Fingers 4 And 5

  • Ringand Little Finger Syndactyly

  • Syndactyly Of Fingers Four And Five

  • Syndactyly Of The Ring And Little Finger

  • Sd3

  • Syndactyly 3

  • Syndactyly Type Iii

  • 4-5 Finger Syndactyly

  • Syndactyly, Type 3

Congenital Nervous System Abnormality
  • Congenital Neurologic Anomaly

  • Congenital Nervous System Disorder

White-Sutton Syndrome
  • WHSUS

  • Mrd37

  • Intellectual Disability-Microcephaly-Strabismus-Behavioral Abnormalities Syndrome

  • Mental Retardation, Autosomal Dominant 37

  • Autosomal Dominant Mental Retardation 37

  • Pogz-Related Intellectual Disability Syndrome

Peripheral T-Cell Lymphoma
  • Lymphoma T-Cell Peripheral

Interatrial Communication
  • Asd

  • Atrial Septal Defect

  • Interauricular Communication

Atrial Heart Septal Defect
  • Atrial Septal Defect

  • Atrial Septal Defects

  • Atrioseptal Defect

  • Auricular Septal Defect

  • Congenital Atrial Septal Defect

  • Interatrial Septal Defect

  • Interauricular Septal Defect

  • Heart Septal Defects, Atrial

  • Septal Defect, Atrial

Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures
  • OPA10

  • Optic Atrophy 10 With Or Without Ataxia, Intellectual Disability, And Seizures

  • Optic Atrophy 10

  • Atrophy, Optic, Type 10, With/Without Ataxia, Mental Retardation, And Seizures

Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
  • Cornelia De Lange Syndrome 4

  • CDLS4

  • Cornelia De Lange Syndrome, Type 4

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Bos taurus HDAC8 VGNC VGNC:56708
Rattus norvegicus HDAC8 RGD RGD:1562895
Mus musculus HDAC8 MGD MGI:1917565
Canis familiaris HDAC8 VGNC VGNC:50631
Others HDAC8 NCBI