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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
4
Cytoband
p13
Chromosome location (bp)
41744082 - 41748725
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Involved in the development of several major noradrenergic neuron populations, including the locus coeruleus. Transcription factor which could determine a neurotransmitter phenotype in vertebrates. Enhances second-messenger-mediated activation of the dopamine beta-hydrolase and c-fos promoters, and of several enhancers including cAMP-response element and serum-response element....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.
Transcription, Transcription regulation
Gene summary (Entrez)i
Useful information about the gene from Entrez
The DNA-associated protein encoded by this gene is a member of the paired family of homeobox proteins localized to the nucleus. The protein functions as a transcription factor involved in the development of several major noradrenergic neuron populations and the determination of neurotransmitter phenotype. The gene product is linked to enhancement of second messenger-mediated activation of the dopamine beta-hydroylase, c-fos promoters and several enhancers, including cyclic amp-response element and serum-response element. Expansion of a 20 amino acid polyalanine tract in this protein by 5-13 aa has been associated with congenital central hypoventilation syndrome. [provided by RefSeq, Jul 2016]...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.
Q99453 [Direct mapping] Paired mesoderm homeobox protein 2B
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THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Helix-turn-helix domains Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations COSMIC Germline Mutations COSMIC Frameshift Mutations Disease related genes Human disease related genes Cancers Cancers of eye, brain, and central nervous system Nervous system diseases Other nervous and sensory system diseases Mapped to neXtProt neXtProt - Evidence at protein level
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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:0001228[DNA-binding transcription activator activity, RNA polymerase II-specific] GO:0001764[neuron migration] GO:0002087[regulation of respiratory gaseous exchange by nervous system process] GO:0003357[noradrenergic neuron differentiation] GO:0003358[noradrenergic neuron development] GO:0003360[brainstem development] GO:0003677[DNA 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:0008283[cell population proliferation] GO:0010001[glial cell differentiation] GO:0010468[regulation of gene expression] GO:0010971[positive regulation of G2/M transition of mitotic cell cycle] GO:0014823[response to activity] GO:0021533[cell differentiation in hindbrain] GO:0021723[medullary reticular formation development] GO:0021934[hindbrain tangential cell migration] GO:0030182[neuron differentiation] GO:0035914[skeletal muscle cell differentiation] GO:0044342[type B pancreatic cell proliferation] GO:0045665[negative regulation of neuron differentiation] GO:0045666[positive regulation of neuron differentiation] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0048468[cell development] GO:0048483[autonomic nervous system development] GO:0048484[enteric nervous system development] GO:0048485[sympathetic nervous system development] GO:0048486[parasympathetic nervous system development] GO:0048839[inner ear development] GO:0048894[efferent axon development in a lateral line nerve] GO:0051899[membrane depolarization] GO:0060541[respiratory system development] GO:0061452[retrotrapezoid nucleus neuron differentiation] GO:0061549[sympathetic ganglion development] GO:0071244[cellular response to carbon dioxide] GO:0071542[dopaminergic neuron differentiation] GO:0071773[cellular response to BMP stimulus] GO:0097475[motor neuron migration] GO:0120162[positive regulation of cold-induced thermogenesis] GO:1901166[neural crest cell migration involved in autonomic nervous system development] GO:1904691[negative regulation of type B pancreatic cell proliferation] GO:1990837[sequence-specific double-stranded DNA binding]
The Human Protein Atlas project is funded
