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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes Enzymes FDA approved drug targets Human disease related genes
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
2
Cytoband
q37.3
Chromosome location (bp)
239048168 - 239401654
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
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. Involved in muscle maturation via its interaction with the myocyte enhancer factors such as MEF2A, MEF2C and MEF2D. Involved in the MTA1-mediated epigenetic regulation of ESR1 expression in breast cancer. Deacetylates HSPA1A and HSPA1B at 'Lys-77' leading to their preferential binding to co-chaperone STUB1 1....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Chromatin regulator, Hydrolase, Repressor
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Transcription, Transcription regulation
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
Metal-binding, Zinc
Gene summary (Entrez)i
Useful information about the gene from 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 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]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Enzymes ENZYME proteins Hydrolases Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes FDA approved drug targets Small molecule drugs Human disease related genes Congenital malformations Congenital malformations of the nervous system Other congenital disorders Chromosomal abnormalities Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000118[histone deacetylase complex] GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000976[transcription cis-regulatory region binding] GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0004407[histone deacetylase activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006325[chromatin organization] GO:0006338[chromatin remodeling] GO:0006476[protein deacetylation] GO:0006954[inflammatory response] GO:0007399[nervous system development] GO:0008270[zinc ion binding] GO:0008284[positive regulation of cell population proliferation] GO:0010832[negative regulation of myotube differentiation] GO:0014894[response to denervation involved in regulation of muscle adaptation] GO:0014898[cardiac muscle hypertrophy in response to stress] GO:0016575[histone deacetylation] GO:0016607[nuclear speck] GO:0016787[hydrolase activity] GO:0016925[protein sumoylation] GO:0017053[transcription repressor complex] GO:0019789[SUMO transferase activity] GO:0030183[B cell differentiation] GO:0030955[potassium ion binding] GO:0033235[positive regulation of protein sumoylation] GO:0033558[protein lysine deacetylase activity] GO:0034983[peptidyl-lysine deacetylation] GO:0040029[epigenetic regulation of gene expression] GO:0042113[B cell activation] GO:0042802[identical protein binding] GO:0042826[histone deacetylase binding] GO:0043393[regulation of protein binding] GO:0043433[negative regulation of DNA-binding transcription factor activity] GO:0043565[sequence-specific DNA binding] GO:0045820[negative regulation of glycolytic process] GO:0045892[negative regulation of DNA-templated transcription] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046872[metal ion binding] GO:0050896[response to stimulus] GO:0051091[positive regulation of DNA-binding transcription factor activity] GO:0061629[RNA polymerase II-specific DNA-binding transcription factor binding] GO:0070555[response to interleukin-1] GO:0070932[histone H3 deacetylation] GO:0070933[histone H4 deacetylation] GO:0140297[DNA-binding transcription factor binding]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of the nervous system Other congenital disorders Chromosomal abnormalities Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of the nervous system Other congenital disorders Chromosomal abnormalities Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of the nervous system Other congenital disorders Chromosomal abnormalities Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of the nervous system Other congenital disorders Chromosomal abnormalities Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of the nervous system Other congenital disorders Chromosomal abnormalities Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000118[histone deacetylase complex] GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0001501[skeletal system development] GO:0001649[osteoblast differentiation] GO:0002076[osteoblast development] GO:0003677[DNA binding] GO:0003682[chromatin binding] GO:0003714[transcription corepressor activity] GO:0004407[histone deacetylase activity] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006325[chromatin organization] GO:0008283[cell population proliferation] GO:0008285[negative regulation of cell population proliferation] GO:0009410[response to xenobiotic stimulus] GO:0010592[positive regulation of lamellipodium assembly] GO:0010882[regulation of cardiac muscle contraction by calcium ion signaling] GO:0014894[response to denervation involved in regulation of muscle adaptation] GO:0014911[positive regulation of smooth muscle cell migration] GO:0016575[histone deacetylation] GO:0016787[hydrolase activity] GO:0019901[protein kinase binding] GO:0030017[sarcomere] GO:0030018[Z disc] GO:0031594[neuromuscular junction] GO:0031672[A band] GO:0032991[protein-containing complex] GO:0033558[protein lysine deacetylase activity] GO:0042641[actomyosin] GO:0043525[positive regulation of neuron apoptotic process] GO:0045668[negative regulation of osteoblast differentiation] GO:0045820[negative regulation of glycolytic process] GO:0045892[negative regulation of DNA-templated transcription] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046872[metal ion binding] GO:0048661[positive regulation of smooth muscle cell proliferation] GO:0048742[regulation of skeletal muscle fiber development] GO:0050896[response to stimulus] GO:0071260[cellular response to mechanical stimulus] GO:0071356[cellular response to tumor necrosis factor] GO:0071374[cellular response to parathyroid hormone stimulus] GO:0140297[DNA-binding transcription factor binding] GO:1902437[positive regulation of male mating behavior] GO:1902809[regulation of skeletal muscle fiber differentiation] GO:1902894[negative regulation of miRNA transcription] GO:1903428[positive regulation of reactive oxygen species biosynthetic process] GO:1990841[promoter-specific chromatin binding]
The Human Protein Atlas project is funded
