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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 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)
49487524 - 49857919
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Transcription factor that can both act as an activator or a repressor depending on the context. Plays a central role in BMP signaling and olfactory neurogenesis. Associates with SMADs in response to BMP2 leading to activate transcription of BMP target genes. Acts as a transcriptional repressor via its interaction with EBF1, a transcription factor involved in terminal olfactory receptor neurons differentiation; this interaction preventing EBF1 to bind DNA and activate olfactory-specific genes. Involved in olfactory neurogenesis by participating in a developmental switch that regulates the transition from differentiation to maturation in olfactory receptor neurons. Controls proliferation and differentiation of neural precursors in cerebellar vermis formation....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
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 nuclear protein that belongs to the family of Kruppel-like C2H2 zinc finger proteins. It functions as a DNA-binding transcription factor by using distinct zinc fingers in different signaling pathways. Thus, it is thought that this gene may have multiple roles in signal transduction during development. Mutations in this gene are associated with nephronophthisis-14 and Joubert syndrome-19. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2012]...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.
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of the nervous system Congenital malformations of the urinary system Immune system diseases Allergies and autoimmune diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Zinc-coordinating DNA-binding domains Disease related genes Human disease related genes Congenital malformations Congenital malformations of the nervous system Congenital malformations of the urinary system Immune system diseases Allergies and autoimmune diseases 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:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0003677[DNA binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0007219[Notch signaling pathway] GO:0007399[nervous system development] GO:0030154[cell differentiation] GO:0030513[positive regulation of BMP signaling pathway] GO:0043565[sequence-specific DNA binding] GO:0045892[negative regulation of DNA-templated transcription] GO:0045893[positive regulation of DNA-templated transcription] GO:0046872[metal ion binding] GO:0061512[protein localization to cilium] GO:0120163[negative regulation of cold-induced thermogenesis]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Zinc-coordinating DNA-binding domains Disease related genes Human disease related genes Congenital malformations Congenital malformations of the nervous system Congenital malformations of the urinary system Immune system diseases Allergies and autoimmune diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0003677[DNA binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0007219[Notch signaling pathway] GO:0007399[nervous system development] GO:0030154[cell differentiation] GO:0030513[positive regulation of BMP signaling pathway] GO:0043565[sequence-specific DNA binding] GO:0045892[negative regulation of DNA-templated transcription] GO:0045893[positive regulation of DNA-templated transcription] GO:0046872[metal ion binding] GO:0061512[protein localization to cilium] GO:0120163[negative regulation of cold-induced thermogenesis]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Zinc-coordinating DNA-binding domains Disease related genes Human disease related genes Congenital malformations Congenital malformations of the nervous system Congenital malformations of the urinary system Immune system diseases Allergies and autoimmune diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0003677[DNA binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0007219[Notch signaling pathway] GO:0007399[nervous system development] GO:0030154[cell differentiation] GO:0030513[positive regulation of BMP signaling pathway] GO:0043565[sequence-specific DNA binding] GO:0045892[negative regulation of DNA-templated transcription] GO:0045893[positive regulation of DNA-templated transcription] GO:0046872[metal ion binding] GO:0061512[protein localization to cilium] GO:0120163[negative regulation of cold-induced thermogenesis]
A0A7P0Q1F0 [Direct mapping] Zinc finger protein 423
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of the nervous system Congenital malformations of the urinary system Immune system diseases Allergies and autoimmune diseases Protein evidence (Ezkurdia et al 2014)
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GO:0005634[nucleus] GO:0007219[Notch signaling pathway] GO:0021930[cerebellar granule cell precursor proliferation] GO:0021938[smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation] GO:0030513[positive regulation of BMP signaling pathway] GO:0043565[sequence-specific DNA binding] GO:0045892[negative regulation of DNA-templated transcription] GO:0045893[positive regulation of DNA-templated transcription] GO:0050872[white fat cell differentiation] GO:0050873[brown fat cell differentiation] GO:0060271[cilium assembly] GO:0061512[protein localization to cilium] GO:0120163[negative regulation of cold-induced thermogenesis]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of the nervous system Congenital malformations of the urinary system Immune system diseases Allergies and autoimmune diseases Protein evidence (Ezkurdia et al 2014)
A0A087WV99 [Direct mapping] Zinc finger protein 423
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of the nervous system Congenital malformations of the urinary system Immune system diseases Allergies and autoimmune diseases Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
