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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
2
Cytoband
q31.3
Chromosome location (bp)
181668295 - 181680827
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Acts as a transcriptional activator: mediates transcriptional activation by binding to E box-containing promoter consensus core sequences 5'-CANNTG-3'. Associates with the p300/CBP transcription coactivator complex to stimulate transcription of the secretin gene as well as the gene encoding the cyclin-dependent kinase inhibitor CDKN1A. Contributes to the regulation of several cell differentiation pathways, like those that promote the formation of early retinal ganglion cells, inner ear sensory neurons, granule cells forming either the cerebellum or the dentate gyrus cell layer of the hippocampus, endocrine islet cells of the pancreas and enteroendocrine cells of the small intestine. Together with PAX6 or SIX3, is required for the regulation of amacrine cell fate specification. Also required for dendrite morphogenesis and maintenance in the cerebellar cortex. Associates with chromatin to enhancer regulatory elements in genes encoding key transcriptional regulators of neurogenesis (By similarity)....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Activator, Developmental protein, DNA-binding
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
This gene encodes a member of the NeuroD family of basic helix-loop-helix (bHLH) transcription factors. The protein forms heterodimers with other bHLH proteins and activates transcription of genes that contain a specific DNA sequence known as the E-box. It regulates expression of the insulin gene, and mutations in this gene result in type II diabetes mellitus. [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 Transcription factors Basic domains Disease related genes Human disease related genes Endocrine and metabolic diseases Diabetes Mapped to neXtProt neXtProt - Evidence at protein level
Show all
GO:0000785[chromatin] GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0001228[DNA-binding transcription activator activity, RNA polymerase II-specific] GO:0003326[pancreatic A cell fate commitment] GO:0003329[pancreatic PP cell fate commitment] GO:0003677[DNA binding] GO:0003682[chromatin binding] GO:0003690[double-stranded DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006366[transcription by RNA polymerase II] GO:0006913[nucleocytoplasmic transport] GO:0007259[receptor signaling pathway via JAK-STAT] GO:0007263[nitric oxide mediated signal transduction] GO:0007399[nervous system development] GO:0009410[response to xenobiotic stimulus] GO:0009749[response to glucose] GO:0009952[anterior/posterior pattern specification] GO:0021542[dentate gyrus development] GO:0021549[cerebellum development] GO:0022008[neurogenesis] GO:0023019[signal transduction involved in regulation of gene expression] GO:0030073[insulin secretion] GO:0030154[cell differentiation] GO:0030182[neuron differentiation] GO:0030902[hindbrain development] GO:0031018[endocrine pancreas development] GO:0035881[amacrine cell differentiation] GO:0035883[enteroendocrine cell differentiation] GO:0042593[glucose homeostasis] GO:0043010[camera-type eye development] GO:0043065[positive regulation of apoptotic process] GO:0043565[sequence-specific DNA binding] GO:0045165[cell fate commitment] GO:0045597[positive regulation of cell differentiation] GO:0045664[regulation of neuron differentiation] GO:0045666[positive regulation of neuron differentiation] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046426[negative regulation of receptor signaling pathway via JAK-STAT] GO:0046982[protein heterodimerization activity] GO:0046983[protein dimerization activity] GO:0048562[embryonic organ morphogenesis] GO:0048666[neuron development] GO:0048839[inner ear development] GO:0050796[regulation of insulin secretion] GO:0051091[positive regulation of DNA-binding transcription factor activity] GO:0060730[regulation of intestinal epithelial structure maintenance] GO:0061629[RNA polymerase II-specific DNA-binding transcription factor binding] GO:0070888[E-box binding] GO:0071333[cellular response to glucose stimulus] GO:0090575[RNA polymerase II transcription regulator complex] GO:1990837[sequence-specific double-stranded DNA binding] GO:2000675[negative regulation of type B pancreatic cell apoptotic process] GO:2000679[positive regulation of transcription regulatory region DNA binding]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Basic domains Disease related genes Human disease related genes Endocrine and metabolic diseases Diabetes Mapped to neXtProt neXtProt - Evidence at protein level
Show all
GO:0000785[chromatin] GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0001228[DNA-binding transcription activator activity, RNA polymerase II-specific] GO:0003677[DNA binding] GO:0003682[chromatin binding] GO:0003700[DNA-binding transcription factor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0007263[nitric oxide mediated signal transduction] GO:0007399[nervous system development] GO:0009749[response to glucose] GO:0021542[dentate gyrus development] GO:0021549[cerebellum development] GO:0022008[neurogenesis] GO:0030073[insulin secretion] GO:0030154[cell differentiation] GO:0030182[neuron differentiation] GO:0031018[endocrine pancreas development] GO:0035881[amacrine cell differentiation] GO:0035883[enteroendocrine cell differentiation] GO:0042593[glucose homeostasis] GO:0043065[positive regulation of apoptotic process] GO:0043565[sequence-specific DNA binding] GO:0045597[positive regulation of cell differentiation] GO:0045666[positive regulation of neuron differentiation] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046982[protein heterodimerization activity] GO:0046983[protein dimerization activity] GO:0048562[embryonic organ morphogenesis] GO:0048666[neuron development] GO:0048839[inner ear development] GO:0050796[regulation of insulin secretion] GO:0051091[positive regulation of DNA-binding transcription factor activity] GO:0060730[regulation of intestinal epithelial structure maintenance] GO:0061629[RNA polymerase II-specific DNA-binding transcription factor binding] GO:0070888[E-box binding] GO:0090575[RNA polymerase II transcription regulator complex] GO:1990837[sequence-specific double-stranded DNA binding] GO:2000675[negative regulation of type B pancreatic cell apoptotic process] GO:2000679[positive regulation of transcription regulatory region DNA binding]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Basic domains Disease related genes Human disease related genes Endocrine and metabolic diseases Diabetes Mapped to neXtProt neXtProt - Evidence at protein level
Show all
GO:0000785[chromatin] GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0001228[DNA-binding transcription activator activity, RNA polymerase II-specific] GO:0003677[DNA binding] GO:0003682[chromatin binding] GO:0003700[DNA-binding transcription factor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0007263[nitric oxide mediated signal transduction] GO:0007399[nervous system development] GO:0009749[response to glucose] GO:0021542[dentate gyrus development] GO:0021549[cerebellum development] GO:0022008[neurogenesis] GO:0030073[insulin secretion] GO:0030154[cell differentiation] GO:0030182[neuron differentiation] GO:0031018[endocrine pancreas development] GO:0035881[amacrine cell differentiation] GO:0035883[enteroendocrine cell differentiation] GO:0042593[glucose homeostasis] GO:0043065[positive regulation of apoptotic process] GO:0043565[sequence-specific DNA binding] GO:0045597[positive regulation of cell differentiation] GO:0045666[positive regulation of neuron differentiation] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046982[protein heterodimerization activity] GO:0046983[protein dimerization activity] GO:0048562[embryonic organ morphogenesis] GO:0048666[neuron development] GO:0048839[inner ear development] GO:0050796[regulation of insulin secretion] GO:0051091[positive regulation of DNA-binding transcription factor activity] GO:0060730[regulation of intestinal epithelial structure maintenance] GO:0061629[RNA polymerase II-specific DNA-binding transcription factor binding] GO:0070888[E-box binding] GO:0090575[RNA polymerase II transcription regulator complex] GO:1990837[sequence-specific double-stranded DNA binding] GO:2000675[negative regulation of type B pancreatic cell apoptotic process] GO:2000679[positive regulation of transcription regulatory region DNA binding]
The Human Protein Atlas project is funded
