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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 Human disease related genes Plasma proteins Transcription factors
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
16
Cytoband
q12.1
Chromosome location (bp)
51135982 - 51152334
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Transcriptional repressor involved in organogenesis. Plays an essential role in ureteric bud invasion during kidney development....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
DNA-binding, 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
The protein encoded by this gene is a zinc finger transcriptional repressor and may be part of the NuRD histone deacetylase complex (HDAC). Defects in this gene are a cause of Townes-Brocks syndrome (TBS) as well as bronchio-oto-renal syndrome (BOR). Two transcript variants encoding different isoforms have been found for this gene. [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 ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.
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 Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Transcription factors Zinc-coordinating DNA-binding domains Disease related genes Human disease related genes Congenital malformations Other congenital malformations Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000792[heterochromatin] GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0001227[DNA-binding transcription repressor activity, RNA polymerase II-specific] GO:0001657[ureteric bud development] GO:0001658[branching involved in ureteric bud morphogenesis] GO:0001822[kidney development] GO:0003281[ventricular septum development] GO:0003337[mesenchymal to epithelial transition involved in metanephros morphogenesis] GO:0003677[DNA binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0006357[regulation of transcription by RNA polymerase II] GO:0007507[heart development] GO:0008013[beta-catenin binding] GO:0008406[gonad development] GO:0010369[chromocenter] GO:0021553[olfactory nerve development] GO:0021889[olfactory bulb interneuron differentiation] GO:0021983[pituitary gland development] GO:0030177[positive regulation of Wnt signaling pathway] GO:0030325[adrenal gland development] GO:0031129[inductive cell-cell signaling] GO:0042733[embryonic digit morphogenesis] 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:0048566[embryonic digestive tract development] GO:0060173[limb development] GO:0061034[olfactory bulb mitral cell layer development] GO:0072073[kidney epithelium development] GO:0072092[ureteric bud invasion]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Transcription factors Zinc-coordinating DNA-binding domains Disease related genes Human disease related genes Congenital malformations Other congenital malformations Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000792[heterochromatin] GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0001657[ureteric bud development] GO:0001658[branching involved in ureteric bud morphogenesis] GO:0001822[kidney development] GO:0003281[ventricular septum development] GO:0003337[mesenchymal to epithelial transition involved in metanephros morphogenesis] GO:0003677[DNA binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0006357[regulation of transcription by RNA polymerase II] GO:0007507[heart development] GO:0008013[beta-catenin binding] GO:0008406[gonad development] GO:0010369[chromocenter] GO:0021553[olfactory nerve development] GO:0021889[olfactory bulb interneuron differentiation] GO:0021983[pituitary gland development] GO:0030177[positive regulation of Wnt signaling pathway] GO:0030325[adrenal gland development] GO:0031129[inductive cell-cell signaling] GO:0042733[embryonic digit morphogenesis] 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:0048566[embryonic digestive tract development] GO:0060173[limb development] GO:0061034[olfactory bulb mitral cell layer development] GO:0072073[kidney epithelium development] GO:0072092[ureteric bud invasion]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Transcription factors Zinc-coordinating DNA-binding domains Disease related genes Human disease related genes Congenital malformations Other congenital malformations Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000792[heterochromatin] GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0001657[ureteric bud development] GO:0001658[branching involved in ureteric bud morphogenesis] GO:0001822[kidney development] GO:0003281[ventricular septum development] GO:0003337[mesenchymal to epithelial transition involved in metanephros morphogenesis] GO:0003677[DNA binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0006357[regulation of transcription by RNA polymerase II] GO:0007507[heart development] GO:0008013[beta-catenin binding] GO:0008406[gonad development] GO:0010369[chromocenter] GO:0021553[olfactory nerve development] GO:0021889[olfactory bulb interneuron differentiation] GO:0021983[pituitary gland development] GO:0030177[positive regulation of Wnt signaling pathway] GO:0030325[adrenal gland development] GO:0031129[inductive cell-cell signaling] GO:0042733[embryonic digit morphogenesis] 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:0048566[embryonic digestive tract development] GO:0060173[limb development] GO:0061034[olfactory bulb mitral cell layer development] GO:0072073[kidney epithelium development] GO:0072092[ureteric bud invasion]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Transcription factors Zinc-coordinating DNA-binding domains Disease related genes Human disease related genes Congenital malformations Other congenital malformations Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000792[heterochromatin] GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0001657[ureteric bud development] GO:0001658[branching involved in ureteric bud morphogenesis] GO:0001822[kidney development] GO:0003281[ventricular septum development] GO:0003337[mesenchymal to epithelial transition involved in metanephros morphogenesis] GO:0003677[DNA binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0006357[regulation of transcription by RNA polymerase II] GO:0007507[heart development] GO:0008013[beta-catenin binding] GO:0008406[gonad development] GO:0010369[chromocenter] GO:0021553[olfactory nerve development] GO:0021889[olfactory bulb interneuron differentiation] GO:0021983[pituitary gland development] GO:0030177[positive regulation of Wnt signaling pathway] GO:0030325[adrenal gland development] GO:0031129[inductive cell-cell signaling] GO:0042733[embryonic digit morphogenesis] 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:0048566[embryonic digestive tract development] GO:0060173[limb development] GO:0061034[olfactory bulb mitral cell layer development] GO:0072073[kidney epithelium development] GO:0072092[ureteric bud invasion]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
