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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).
Cancer-related genes 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
15
Cytoband
q21.3
Chromosome location (bp)
56918623 - 57299281
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Transcriptional regulator. Involved in the initiation of neuronal differentiation. Activates transcription by binding to the E box (5'-CANNTG-3') (By similarity). May be involved in the functional network that regulates the development of the GnRH axis 1....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Developmental protein, DNA-binding
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
The protein encoded by this gene is a member of the basic helix-loop-helix (bHLH) E-protein family that recognizes the consensus binding site (E-box) CANNTG. This encoded protein is expressed in many tissues, among them skeletal muscle, thymus, B- and T-cells, and may participate in regulating lineage-specific gene expression through the formation of heterodimers with other bHLH E-proteins. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [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.
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Basic domains Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Disease related genes Human disease related genes Congenital malformations Other congenital malformations Endocrine and metabolic diseases Hypothalamus and pituitary gland 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:0000785[chromatin] GO:0000976[transcription cis-regulatory region 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:0000987[cis-regulatory region sequence-specific DNA binding] GO:0001228[DNA-binding transcription activator activity, RNA polymerase II-specific] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005667[transcription regulator complex] GO:0005737[cytoplasm] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006955[immune response] GO:0007399[nervous system development] GO:0007517[muscle organ development] GO:0016607[nuclear speck] GO:0030154[cell differentiation] GO:0043231[intracellular membrane-bounded organelle] GO:0043425[bHLH transcription factor binding] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046332[SMAD binding] GO:0046983[protein dimerization activity] GO:0090575[RNA polymerase II transcription regulator complex] GO:0097210[response to gonadotropin-releasing hormone] GO:0140297[DNA-binding transcription factor binding] GO:1990837[sequence-specific double-stranded DNA binding]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Basic domains Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Disease related genes Human disease related genes Congenital malformations Other congenital malformations Endocrine and metabolic diseases Hypothalamus and pituitary gland diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000785[chromatin] GO:0000976[transcription cis-regulatory region 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:0000987[cis-regulatory region sequence-specific DNA binding] GO:0001228[DNA-binding transcription activator activity, RNA polymerase II-specific] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005667[transcription regulator complex] GO:0005737[cytoplasm] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006955[immune response] GO:0007399[nervous system development] GO:0007517[muscle organ development] GO:0010467[gene expression] GO:0010628[positive regulation of gene expression] GO:0016607[nuclear speck] GO:0030154[cell differentiation] GO:0035497[cAMP response element binding] GO:0043231[intracellular membrane-bounded organelle] GO:0043425[bHLH transcription factor binding] 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:0046332[SMAD binding] GO:0046982[protein heterodimerization activity] GO:0046983[protein dimerization activity] GO:0070888[E-box binding] GO:0071837[HMG box domain binding] GO:0090575[RNA polymerase II transcription regulator complex] GO:0097210[response to gonadotropin-releasing hormone] GO:0140297[DNA-binding transcription factor binding] GO:1990837[sequence-specific double-stranded DNA binding]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Basic domains Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Disease related genes Human disease related genes Congenital malformations Other congenital malformations Endocrine and metabolic diseases Hypothalamus and pituitary gland diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000785[chromatin] GO:0000976[transcription cis-regulatory region 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:0000987[cis-regulatory region sequence-specific DNA binding] GO:0001228[DNA-binding transcription activator activity, RNA polymerase II-specific] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005667[transcription regulator complex] GO:0005737[cytoplasm] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006955[immune response] GO:0007399[nervous system development] GO:0007517[muscle organ development] GO:0016607[nuclear speck] GO:0030154[cell differentiation] GO:0043231[intracellular membrane-bounded organelle] GO:0043425[bHLH transcription factor binding] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046332[SMAD binding] GO:0046983[protein dimerization activity] GO:0090575[RNA polymerase II transcription regulator complex] GO:0097210[response to gonadotropin-releasing hormone] GO:0140297[DNA-binding transcription factor binding] GO:1990837[sequence-specific double-stranded DNA binding]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Basic domains Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Disease related genes Human disease related genes Congenital malformations Other congenital malformations Endocrine and metabolic diseases Hypothalamus and pituitary gland diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000785[chromatin] GO:0000976[transcription cis-regulatory region 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:0000987[cis-regulatory region sequence-specific DNA binding] GO:0001228[DNA-binding transcription activator activity, RNA polymerase II-specific] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005667[transcription regulator complex] GO:0005737[cytoplasm] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006955[immune response] GO:0007399[nervous system development] GO:0007517[muscle organ development] GO:0016607[nuclear speck] GO:0030154[cell differentiation] GO:0043231[intracellular membrane-bounded organelle] GO:0043425[bHLH transcription factor binding] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046332[SMAD binding] GO:0046983[protein dimerization activity] GO:0090575[RNA polymerase II transcription regulator complex] GO:0097210[response to gonadotropin-releasing hormone] GO:0140297[DNA-binding transcription factor binding] GO:1990837[sequence-specific double-stranded DNA binding]
THUMBUP predicted membrane proteins Phobius predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Basic domains Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Disease related genes Human disease related genes Congenital malformations Other congenital malformations Endocrine and metabolic diseases Hypothalamus and pituitary gland diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000785[chromatin] GO:0000976[transcription cis-regulatory region 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:0000987[cis-regulatory region sequence-specific DNA binding] GO:0001228[DNA-binding transcription activator activity, RNA polymerase II-specific] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005667[transcription regulator complex] GO:0005737[cytoplasm] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006955[immune response] GO:0007399[nervous system development] GO:0007517[muscle organ development] GO:0016607[nuclear speck] GO:0030154[cell differentiation] GO:0043231[intracellular membrane-bounded organelle] GO:0043425[bHLH transcription factor binding] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046332[SMAD binding] GO:0046983[protein dimerization activity] GO:0090575[RNA polymerase II transcription regulator complex] GO:0097210[response to gonadotropin-releasing hormone] GO:0140297[DNA-binding transcription factor binding] GO:1990837[sequence-specific double-stranded DNA binding]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Human disease related genes Congenital malformations Other congenital malformations Endocrine and metabolic diseases Hypothalamus and pituitary gland diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Basic domains Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Disease related genes Human disease related genes Congenital malformations Other congenital malformations Endocrine and metabolic diseases Hypothalamus and pituitary gland diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000785[chromatin] GO:0000976[transcription cis-regulatory region 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:0000987[cis-regulatory region sequence-specific DNA binding] GO:0001228[DNA-binding transcription activator activity, RNA polymerase II-specific] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005667[transcription regulator complex] GO:0005737[cytoplasm] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006955[immune response] GO:0007399[nervous system development] GO:0007517[muscle organ development] GO:0016607[nuclear speck] GO:0030154[cell differentiation] GO:0043231[intracellular membrane-bounded organelle] GO:0043425[bHLH transcription factor binding] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046332[SMAD binding] GO:0046983[protein dimerization activity] GO:0090575[RNA polymerase II transcription regulator complex] GO:0097210[response to gonadotropin-releasing hormone] GO:0140297[DNA-binding transcription factor binding] GO:1990837[sequence-specific double-stranded DNA binding]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Human disease related genes Congenital malformations Other congenital malformations Endocrine and metabolic diseases Hypothalamus and pituitary gland diseases Protein evidence (Ezkurdia et al 2014)
B4DGI9 [Direct mapping] Transcription factor 12; cDNA FLJ52589, highly similar to Transcription factor 12
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Human disease related genes Congenital malformations Other congenital malformations Endocrine and metabolic diseases Hypothalamus and pituitary gland diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Human disease related genes Congenital malformations Other congenital malformations Endocrine and metabolic diseases Hypothalamus and pituitary gland diseases Protein evidence (Ezkurdia et al 2014)
B4DZP2 [Direct mapping] Transcription factor 12; cDNA FLJ51686, highly similar to Transcription factor 12
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Human disease related genes Congenital malformations Other congenital malformations Endocrine and metabolic diseases Hypothalamus and pituitary gland diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Human disease related genes Congenital malformations Other congenital malformations Endocrine and metabolic diseases Hypothalamus and pituitary gland diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Human disease related genes Congenital malformations Other congenital malformations Endocrine and metabolic diseases Hypothalamus and pituitary gland diseases Protein evidence (Ezkurdia et al 2014)
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