• Gene id: 9759

Gene Summary

• Gene Symbol: HDAC4   Gene   UCSC   Ensembl
• Aliases: AHO3, BDMR, HA6116, HD4, HDAC-4, HDAC-A, HDACA
• Gene name: histone deacetylase 4
• Alternate names: histone deacetylase 4, histone deacetylase A,
• Gene location: 2q37.3 (239401648: 239048167)     Exons: 36     NC_000002.12
• Gene summary(Entrez): 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 b
• OMIM: 605314

Protein Summary

• Protein general information: P56524  
  • Name: Histone deacetylase 4 (HD4) (EC 3.5.1.98)
  • Length: 1084  
  • Mass: 119040
  • Tissue specificity: Ubiquitous.
• Sequence:

  MSSQSHPDGLSGRDQPVELLNPARVNHMPSTVDVATALPLQVAPSAVPMDLRLDHQFSLPVAEPALREQQLQQEL
  LALKQKQQIQRQILIAEFQRQHEQLSRQHEAQLHEHIKQQQEMLAMKHQQELLEHQRKLERHRQEQELEKQHREQ
  KLQQLKNKEKGKESAVASTEVKMKLQEFVLNKKKALAHRNLNHCISSDPRYWYGKTQHSSLDQSSPPQSGVSTSY
  NHPVLGMYDAKDDFPLRKTASEPNLKLRSRLKQKVAERRSSPLLRRKDGPVVTALKKRPLDVTDSACSSAPGSGP
  SSPNNSSGSVSAENGIAPAVPSIPAETSLAHRLVAREGSAAPLPLYTSPSLPNITLGLPATGPSAGTAGQQDAER
  LTLPALQQRLSLFPGTHLTPYLSTSPLERDGGAAHSPLLQHMVLLEQPPAQAPLVTGLGALPLHAQSLVGADRVS
  PSIHKLRQHRPLGRTQSAPLPQNAQALQHLVIQQQHQQFLEKHKQQFQQQQLQMNKIIPKPSEPARQPESHPEET
  EEELREHQALLDEPYLDRLPGQKEAHAQAGVQVKQEPIESDEEEAEPPREVEPGQRQPSEQELLFRQQALLLEQQ
  RIHQLRNYQASMEAAGIPVSFGGHRPLSRAQSSPASATFPVSVQEPPTKPRFTTGLVYDTLMLKHQCTCGSSSSH
  PEHAGRIQSIWSRLQETGLRGKCECIRGRKATLEELQTVHSEAHTLLYGTNPLNRQKLDSKKLLGSLASVFVRLP
  CGGVGVDSDTIWNEVHSAGAARLAVGCVVELVFKVATGELKNGFAVVRPPGHHAEESTPMGFCYFNSVAVAAKLL
  QQRLSVSKILIVDWDVHHGNGTQQAFYSDPSVLYMSLHRYDDGNFFPGSGAPDEVGTGPGVGFNVNMAFTGGLDP
  PMGDAEYLAAFRTVVMPIASEFAPDVVLVSSGFDAVEGHPTPLGGYNLSARCFGYLTKQLMGLAGGRIVLALEGG
  HDLTAICDASEACVSALLGNELDPLPEKVLQQRPNANAVRSMEKVMEIHSKYWRCLQRTTSTAGRSLIEAQTCEN
  EEAETVTAMASLSVGVKPAEKRPDEEPMEEEPPL

• Structural information:
  • Interpro: IPR033660  IPR000286  IPR023801  IPR037138  IPR024643   IPR017320  IPR023696  
  • PDB: 2H8N 2O94 2VQJ 2VQM 2VQO 2VQQ 2VQV 2VQW 3UXG 3UZD 3V31 4CBT 4CBY 5A2S 5ZOO 5ZOP 6FYZ
  • PDBsum: 2H8N 2O94 2VQJ 2VQM 2VQO 2VQQ 2VQV 2VQW 3UXG 3UZD 3V31 4CBT 4CBY 5A2S 5ZOO 5ZOP 6FYZ
  • DIP: 34565
  • STRING: ENSP00000264606
• Other Databases: GeneCards:  HDAC4  Malacards:  HDAC4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0006476	protein deacetylation	IDA	biological process
GO:0040029	regulation of gene expression, epigenetic	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000118	histone deacetylase complex	IEA	cellular component
GO:0004407	histone deacetylase activity	IEA	molecular function
GO:0006325	chromatin organization	IEA	biological process
GO:0016575	histone deacetylation	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0006325	chromatin organization	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0032041	NAD-dependent histone deacetylase activity (H3-K14 specific)	IEA	molecular function
GO:0004407	histone deacetylase activity	IEA	molecular function
GO:0004407	histone deacetylase activity	IDA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IGI	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IGI	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IGI	biological process
GO:0019789	SUMO transferase activity	EXP	molecular function
GO:0033558	protein deacetylase activity	TAS	molecular function
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0051153	regulation of striated muscle cell differentiation	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0045820	negative regulation of glycolytic process	IEA	biological process
GO:0045668	negative regulation of osteoblast differentiation	IEA	biological process
GO:0033558	protein deacetylase activity	IEA	molecular function
GO:0031594	neuromuscular junction	IEA	cellular component
GO:0019901	protein kinase binding	IEA	molecular function
GO:0008134	transcription factor binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0003714	transcription corepressor activity	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0002076	osteoblast development	IEA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:1903428	positive regulation of reactive oxygen species biosynthetic process	IEA	biological process
GO:0071374	cellular response to parathyroid hormone stimulus	IEA	biological process
GO:0071260	cellular response to mechanical stimulus	IEA	biological process
GO:0048661	positive regulation of smooth muscle cell proliferation	IEA	biological process
GO:0043525	positive regulation of neuron apoptotic process	IEA	biological process
GO:0042493	response to drug	IEA	biological process
GO:0031672	A band	IEA	cellular component
GO:0030018	Z disc	IEA	cellular component
GO:0030017	sarcomere	IEA	cellular component
GO:0014911	positive regulation of smooth muscle cell migration	IEA	biological process
GO:0010592	positive regulation of lamellipodium assembly	IEA	biological process
GO:0008134	transcription factor binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:1902894	negative regulation of pri-miRNA transcription by RNA polymerase II	IEA	biological process
GO:0048742	regulation of skeletal muscle fiber development	IEA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IEA	biological process
GO:0042641	actomyosin	IEA	cellular component
GO:0014894	response to denervation involved in regulation of muscle adaptation	IEA	biological process
GO:0010882	regulation of cardiac muscle contraction by calcium ion signaling	IEA	biological process
GO:0008285	negative regulation of cell population proliferation	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0003682	chromatin binding	IEA	molecular function
GO:0001501	skeletal system development	IEA	biological process
GO:1990841	promoter-specific chromatin binding	IEA	molecular function
GO:1902437	positive regulation of male mating behavior	IEA	biological process
GO:0071356	cellular response to tumor necrosis factor	IEA	biological process
GO:0032991	protein-containing complex	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0004407	histone deacetylase activity	IDA	molecular function
GO:0008270	zinc ion binding	IDA	molecular function
GO:0030955	potassium ion binding	IDA	molecular function
GO:0043565	sequence-specific DNA binding	IDA	contributes to
GO:0000976	transcription regulatory region sequence-specific DNA binding	IDA	contributes to
GO:0033558	protein deacetylase activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0008134	transcription factor binding	IPI	molecular function
GO:0008134	transcription factor binding	IPI	molecular function
GO:0033613	activating transcription factor binding	IPI	molecular function
GO:0042826	histone deacetylase binding	IPI	molecular function
GO:0042826	histone deacetylase binding	IPI	molecular function
GO:0070491	repressing transcription factor binding	IPI	molecular function
GO:0000118	histone deacetylase complex	IDA	cellular component
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0008284	positive regulation of cell population proliferation	IMP	biological process
GO:0010832	negative regulation of myotube differentiation	IMP	biological process
GO:0014894	response to denervation involved in regulation of muscle adaptation	ISS	biological process
GO:0014898	cardiac muscle hypertrophy in response to stress	TAS	biological process
GO:0043433	negative regulation of DNA-binding transcription factor activity	IMP	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IMP	biological process
GO:0045893	positive regulation of transcription, DNA-templated	ISS	biological process
GO:0070555	response to interleukin-1	IMP	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0006338	chromatin remodeling	IDA	biological process
GO:0016575	histone deacetylation	IDA	biological process
GO:0017053	transcription repressor complex	IDA	cellular component
GO:0034983	peptidyl-lysine deacetylation	IDA	biological process
GO:0070932	histone H3 deacetylation	IDA	biological process
GO:0070933	histone H4 deacetylation	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0000122	negative regulation of transcription by RNA polymerase II	IMP	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IMP	biological process
GO:0016575	histone deacetylation	IMP	biological process
GO:0043393	regulation of protein binding	IMP	biological process
GO:0045820	negative regulation of glycolytic process	ISS	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	ISS	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IMP	biological process
GO:0051091	positive regulation of DNA-binding transcription factor activity	IMP	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0016607	nuclear speck	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0016925	protein sumoylation	IEA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0033235	positive regulation of protein sumoylation	IDA	biological process
GO:0001085	RNA polymerase II transcription factor binding	IPI	molecular function
GO:0030183	B cell differentiation	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0042113	B cell activation	TAS	biological process
GO:0007399	nervous system development	TAS	biological process
GO:0006954	inflammatory response	TAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa05206	MicroRNAs in cancer
hsa05034	Alcoholism
hsa05203	Viral carcinogenesis
hsa04371	Apelin signaling pathway

Diseases

Associated diseases	References
Brachydactyly-mental retardation syndrome	KEGG:H00561
Brachydactyly-mental retardation syndrome	KEGG:H00561
ataxia telangiectasia	PMID:22466704
ataxia telangiectasia	PMID:22466704
Impotence	PMID:24636283
Amyotrophic lateral sclerosis	PMID:23824486
Aortic aneurysm	PMID:19389706
Pulmonary hypertension	PMID:22711276
hepatocellular carcinoma	PMID:21837748
Retinal degeneration	PMID:19131628
Eating disorder	PMID:24216484
acute lymphocytic leukemia	PMID:23948281
obesity	PMID:24086512
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray