Seroatlas · Human Serome Atlas

HDAC4

Histone deacetylase 4

Also known as: BDMR, HA6116, HD4, HDAC-4, HDAC-A, HDAC4_HUMAN, HDACA, KIAA0288

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: P56524
Gene: HDAC4
Ensembl: ENSG00000068024
Chromosome: 2
Canonical length: 1084 aa
Protein class: Disease related genes, Enzymes, FDA approved drug targets, Human disease related genes, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Nuclear speckles,Cytosol
Quaternary structure: Homodimer

OverviewNCBI 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 II of the histone deacetylase/acuc/apha family. It possesses histone deacetylase activity and represses transcription when tethered to a promoter. This protein does not bind DNA directly, but through transcription factors MEF2C and MEF2D. It seems to interact in a multiprotein complex with RbAp48 and HDAC3. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

1084 residues, UniProt reviewed canonical sequence.

>P56524|HDAC4
     1  MSSQSHPDGL SGRDQPVELL NPARVNHMPS TVDVATALPL QVAPSAVPMD LRLDHQFSLP
    61  VAEPALREQQ LQQELLALKQ KQQIQRQILI AEFQRQHEQL SRQHEAQLHE HIKQQQEMLA
   121  MKHQQELLEH QRKLERHRQE QELEKQHREQ KLQQLKNKEK GKESAVASTE VKMKLQEFVL
   181  NKKKALAHRN LNHCISSDPR YWYGKTQHSS LDQSSPPQSG VSTSYNHPVL GMYDAKDDFP
   241  LRKTASEPNL KLRSRLKQKV AERRSSPLLR RKDGPVVTAL KKRPLDVTDS ACSSAPGSGP
   301  SSPNNSSGSV SAENGIAPAV PSIPAETSLA HRLVAREGSA APLPLYTSPS LPNITLGLPA
   361  TGPSAGTAGQ QDAERLTLPA LQQRLSLFPG THLTPYLSTS PLERDGGAAH SPLLQHMVLL
   421  EQPPAQAPLV TGLGALPLHA QSLVGADRVS PSIHKLRQHR PLGRTQSAPL PQNAQALQHL
   481  VIQQQHQQFL EKHKQQFQQQ QLQMNKIIPK PSEPARQPES HPEETEEELR EHQALLDEPY
   541  LDRLPGQKEA HAQAGVQVKQ EPIESDEEEA EPPREVEPGQ RQPSEQELLF RQQALLLEQQ
   601  RIHQLRNYQA SMEAAGIPVS FGGHRPLSRA QSSPASATFP VSVQEPPTKP RFTTGLVYDT
   661  LMLKHQCTCG SSSSHPEHAG RIQSIWSRLQ ETGLRGKCEC IRGRKATLEE LQTVHSEAHT
   721  LLYGTNPLNR QKLDSKKLLG SLASVFVRLP CGGVGVDSDT IWNEVHSAGA ARLAVGCVVE
   781  LVFKVATGEL KNGFAVVRPP GHHAEESTPM GFCYFNSVAV AAKLLQQRLS VSKILIVDWD
   841  VHHGNGTQQA FYSDPSVLYM SLHRYDDGNF FPGSGAPDEV GTGPGVGFNV NMAFTGGLDP
   901  PMGDAEYLAA FRTVVMPIAS EFAPDVVLVS SGFDAVEGHP TPLGGYNLSA RCFGYLTKQL
   961  MGLAGGRIVL ALEGGHDLTA ICDASEACVS ALLGNELDPL PEKVLQQRPN ANAVRSMEKV
  1021  MEIHSKYWRC LQRTTSTAGR SLIEAQTCEN EEAETVTAMA SLSVGVKPAE KRPDEEPMEE
  1081  EPPL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against HDAC4 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.49
Highest tissue expression: 33 nTPM

Expression across tissuesHPA

Tissue

skeletal muscle: 33 nTPM
tongue: 25 nTPM
bone marrow: 14 nTPM
colon: 12 nTPM
cerebral cortex: 8.1 nTPM
testis: 8 nTPM

Single-cell type

myonuclei: 1,091 nCPM
neutrophils: 673 nCPM
renal connecting tubule cells: 372 nCPM
neutrophil progenitors: 363 nCPM
somatotrophs: 342 nCPM
pituicytes/fscs: 315 nCPM

Immune cell

neutrophil: 47 nTPM
basophil: 32 nTPM
classical monocyte: 9.8 nTPM
intermediate monocyte: 3.3 nTPM
NK-cell: 2.9 nTPM
eosinophil: 2 nTPM

Brain region

cerebral cortex: 56 nTPM
pons: 51 nTPM
white matter: 48 nTPM
basal ganglia: 47 nTPM
medulla oblongata: 45 nTPM
hypothalamus: 43 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about HDAC4.

Disease | AllUniProt

Conditions HDAC4 is implicated in, by any mechanism.

Neurodevelopmental disorder with central hypotonia and dysmorphic facies (NEDCHF) MIM:619797

Disease | GeneticClinVar

12 pathogenic / likely-pathogenic of 737 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Neurodevelopmental disorder with central hypotonia and dysmorphic facies
Chromosome 2q37 deletion syndrome
Profound intellectual disability
Inborn genetic diseases
Brachydactyly syndrome type E

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.05
gnomAD pLI: 1
gnomAD missense Z: 2.93
DepMap mean gene effect: -0.08
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of HDAC4 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads HDAC4 as an antibody target. Whether an autoantibody or antibody against HDAC4 could matter depends on whether native HDAC4 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

HDAC4 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label HDAC4 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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