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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).
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
12
Cytoband
q23.2
Chromosome location (bp)
102957674 - 102960513
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 plays a key role in neuronal differentiation: acts as a pioneer transcription factor, accessing closed chromatin to allow other factors to bind and activate neural pathways. Directly binds the E box motif (5'-CANNTG-3') on promoters and promotes transcription of neuronal genes. The combination of three transcription factors, ASCL1, POU3F2/BRN2 and MYT1L, is sufficient to reprogram fibroblasts and other somatic cells into induced neuronal (iN) cells in vitro. Plays a role at early stages of development of specific neural lineages in most regions of the CNS, and of several lineages in the PNS. Essential for the generation of olfactory and autonomic neurons. Acts synergistically with FOXN4 to specify the identity of V2b neurons rather than V2a from bipotential p2 progenitors during spinal cord neurogenesis, probably through DLL4-NOTCH signaling activation. Involved in the regulation of neuroendocrine cell development in the glandular stomach (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 basic helix-loop-helix (BHLH) family of transcription factors. The protein activates transcription by binding to the E box (5'-CANNTG-3'). Dimerization with other BHLH proteins is required for efficient DNA binding. This protein plays a role in the neuronal commitment and differentiation and in the generation of olfactory and autonomic neurons. Mutations in this gene may contribute to the congenital central hypoventilation syndrome (CCHS) phenotype in rare cases. [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.
Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Basic domains Human disease related genes Nervous system diseases Other nervous and sensory system diseases Mapped to neXtProt neXtProt - Evidence at protein level
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GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000785[chromatin] GO:0000977[RNA polymerase II transcription regulatory region sequence-specific DNA binding] 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:0003358[noradrenergic neuron development] GO:0003359[noradrenergic neuron fate commitment] GO:0003676[nucleic acid binding] 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:0006357[regulation of transcription by RNA polymerase II] GO:0007219[Notch signaling pathway] GO:0007346[regulation of mitotic cell cycle] GO:0007389[pattern specification process] GO:0007399[nervous system development] GO:0007400[neuroblast fate determination] GO:0007405[neuroblast proliferation] GO:0007423[sensory organ development] GO:0007507[heart development] GO:0008593[regulation of Notch signaling pathway] GO:0010226[response to lithium ion] GO:0010468[regulation of gene expression] GO:0014003[oligodendrocyte development] GO:0021527[spinal cord association neuron differentiation] GO:0021529[spinal cord oligodendrocyte cell differentiation] GO:0021530[spinal cord oligodendrocyte cell fate specification] GO:0021750[vestibular nucleus development] GO:0021779[oligodendrocyte cell fate commitment] GO:0021879[forebrain neuron differentiation] GO:0021892[cerebral cortex GABAergic interneuron differentiation] GO:0021902[commitment of neuronal cell to specific neuron type in forebrain] GO:0021954[central nervous system neuron development] GO:0021987[cerebral cortex development] GO:0022008[neurogenesis] GO:0030154[cell differentiation] GO:0030182[neuron differentiation] GO:0030856[regulation of epithelial cell differentiation] GO:0032526[response to retinoic acid] GO:0042127[regulation of cell population proliferation] GO:0042802[identical protein binding] GO:0043025[neuronal cell body] GO:0043066[negative regulation of apoptotic process] GO:0043425[bHLH transcription factor binding] GO:0043525[positive regulation of neuron apoptotic process] GO:0043565[sequence-specific DNA binding] GO:0045665[negative regulation of neuron differentiation] GO:0045666[positive regulation of neuron differentiation] GO:0045747[positive regulation of Notch signaling pathway] GO:0045787[positive regulation of cell cycle] GO:0045892[negative regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046983[protein dimerization activity] GO:0048469[cell maturation] GO:0048485[sympathetic nervous system development] GO:0048663[neuron fate commitment] GO:0048665[neuron fate specification] GO:0048666[neuron development] GO:0048699[generation of neurons] GO:0048709[oligodendrocyte differentiation] GO:0048935[peripheral nervous system neuron development] GO:0050767[regulation of neurogenesis] GO:0050769[positive regulation of neurogenesis] GO:0050883[musculoskeletal movement, spinal reflex action] GO:0051593[response to folic acid] GO:0060163[subpallium neuron fate commitment] GO:0060165[regulation of timing of subpallium neuron differentiation] GO:0060166[olfactory pit development] GO:0060487[lung epithelial cell differentiation] GO:0060579[ventral spinal cord interneuron fate commitment] GO:0061100[lung neuroendocrine cell differentiation] GO:0061101[neuroendocrine cell differentiation] GO:0061102[stomach neuroendocrine cell differentiation] GO:0061103[carotid body glomus cell differentiation] GO:0061104[adrenal chromaffin cell differentiation] GO:0061351[neural precursor cell proliferation] GO:0061549[sympathetic ganglion development] GO:0070849[response to epidermal growth factor] GO:0070888[E-box binding] GO:0071259[cellular response to magnetism] GO:0090575[RNA polymerase II transcription regulator complex] GO:0097154[GABAergic neuron differentiation] GO:0097475[motor neuron migration] GO:1990837[sequence-specific double-stranded DNA binding] GO:2000179[positive regulation of neural precursor cell proliferation]