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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
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
20
Cytoband
q13.32
Chromosome location (bp)
59300443 - 59325992
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Endothelins are endothelium-derived vasoconstrictor peptides....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Vasoactive, Vasoconstrictor
Gene summary (Entrez)i
Useful information about the gene from Entrez
The protein encoded by this gene is a member of the endothelin family. Endothelins are endothelium-derived vasoactive peptides involved in a variety of biological functions. The active form of this protein is a 21 amino acid peptide processed from the precursor protein. The active peptide is a ligand for endothelin receptor type B (EDNRB). The interaction of this endothelin with EDNRB is essential for development of neural crest-derived cell lineages, such as melanocytes and enteric neurons. Mutations in this gene and EDNRB have been associated with Hirschsprung disease (HSCR) and Waardenburg syndrome (WS), which are congenital disorders involving neural crest-derived cells. Altered expression of this gene is implicated in tumorigenesis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]...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 secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins DeepTMHMM predicted secreted proteins DeepSig predicted secreted proteins Disease related genes Human disease related genes Congenital disorders of metabolism Other congenital disorders of metabolism Congenital malformations Congenital malformations of the digestive system Mapped to neXtProt neXtProt - Evidence at protein level
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GO:0002690[positive regulation of leukocyte chemotaxis] GO:0003100[regulation of systemic arterial blood pressure by endothelin] GO:0005102[signaling receptor binding] GO:0005179[hormone activity] GO:0005576[extracellular region] GO:0005615[extracellular space] GO:0006874[cellular calcium ion homeostasis] GO:0007165[signal transduction] GO:0007166[cell surface receptor signaling pathway] GO:0007267[cell-cell signaling] GO:0008015[blood circulation] GO:0008284[positive regulation of cell population proliferation] GO:0010460[positive regulation of heart rate] GO:0010468[regulation of gene expression] GO:0014826[vein smooth muscle contraction] GO:0019229[regulation of vasoconstriction] GO:0030072[peptide hormone secretion] GO:0030593[neutrophil chemotaxis] GO:0031708[endothelin B receptor binding] GO:0042310[vasoconstriction] GO:0043406[positive regulation of MAP kinase activity] GO:0045597[positive regulation of cell differentiation] GO:0045840[positive regulation of mitotic nuclear division] GO:0046887[positive regulation of hormone secretion] GO:0048016[inositol phosphate-mediated signaling] GO:0060585[positive regulation of prostaglandin-endoperoxide synthase activity] GO:0065008[regulation of biological quality] GO:0097746[blood vessel diameter maintenance]
Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins DeepTMHMM predicted secreted proteins DeepSig predicted secreted proteins Disease related genes Human disease related genes Congenital disorders of metabolism Other congenital disorders of metabolism Congenital malformations Congenital malformations of the digestive system Mapped to neXtProt neXtProt - Evidence at protein level
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GO:0001755[neural crest cell migration] GO:0002690[positive regulation of leukocyte chemotaxis] GO:0003100[regulation of systemic arterial blood pressure by endothelin] GO:0005102[signaling receptor binding] GO:0005179[hormone activity] GO:0005576[extracellular region] GO:0005615[extracellular space] GO:0006874[cellular calcium ion homeostasis] GO:0007165[signal transduction] GO:0007166[cell surface receptor signaling pathway] GO:0007267[cell-cell signaling] GO:0007411[axon guidance] GO:0008015[blood circulation] GO:0008283[cell population proliferation] GO:0008284[positive regulation of cell population proliferation] GO:0010460[positive regulation of heart rate] GO:0010468[regulation of gene expression] GO:0010961[cellular magnesium ion homeostasis] GO:0014826[vein smooth muscle contraction] GO:0019229[regulation of vasoconstriction] GO:0030072[peptide hormone secretion] GO:0030182[neuron differentiation] GO:0030318[melanocyte differentiation] GO:0030334[regulation of cell migration] GO:0030593[neutrophil chemotaxis] GO:0031175[neuron projection development] GO:0031708[endothelin B receptor binding] GO:0042310[vasoconstriction] GO:0043406[positive regulation of MAP kinase activity] GO:0045597[positive regulation of cell differentiation] GO:0045840[positive regulation of mitotic nuclear division] GO:0046887[positive regulation of hormone secretion] GO:0048016[inositol phosphate-mediated signaling] GO:0048070[regulation of developmental pigmentation] GO:0048675[axon extension] GO:0051649[establishment of localization in cell] GO:0060585[positive regulation of prostaglandin-endoperoxide synthase activity] GO:0065008[regulation of biological quality] GO:0071805[potassium ion transmembrane transport] GO:0097746[blood vessel diameter maintenance] GO:1901381[positive regulation of potassium ion transmembrane transport]
Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins DeepTMHMM predicted secreted proteins DeepSig predicted secreted proteins Disease related genes Human disease related genes Congenital disorders of metabolism Other congenital disorders of metabolism Congenital malformations Congenital malformations of the digestive system Mapped to neXtProt neXtProt - Evidence at protein level
Show all
GO:0002690[positive regulation of leukocyte chemotaxis] GO:0003100[regulation of systemic arterial blood pressure by endothelin] GO:0005102[signaling receptor binding] GO:0005179[hormone activity] GO:0005576[extracellular region] GO:0005615[extracellular space] GO:0006874[cellular calcium ion homeostasis] GO:0007165[signal transduction] GO:0007166[cell surface receptor signaling pathway] GO:0007267[cell-cell signaling] GO:0008015[blood circulation] GO:0008284[positive regulation of cell population proliferation] GO:0010460[positive regulation of heart rate] GO:0010468[regulation of gene expression] GO:0014826[vein smooth muscle contraction] GO:0019229[regulation of vasoconstriction] GO:0030072[peptide hormone secretion] GO:0030593[neutrophil chemotaxis] GO:0031708[endothelin B receptor binding] GO:0042310[vasoconstriction] GO:0043406[positive regulation of MAP kinase activity] GO:0045597[positive regulation of cell differentiation] GO:0045840[positive regulation of mitotic nuclear division] GO:0046887[positive regulation of hormone secretion] GO:0048016[inositol phosphate-mediated signaling] GO:0060585[positive regulation of prostaglandin-endoperoxide synthase activity] GO:0065008[regulation of biological quality] GO:0097746[blood vessel diameter maintenance]
Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins DeepTMHMM predicted secreted proteins DeepSig predicted secreted proteins Disease related genes Human disease related genes Congenital disorders of metabolism Other congenital disorders of metabolism Congenital malformations Congenital malformations of the digestive system Mapped to neXtProt neXtProt - Evidence at protein level
Show all
GO:0002690[positive regulation of leukocyte chemotaxis] GO:0003100[regulation of systemic arterial blood pressure by endothelin] GO:0005102[signaling receptor binding] GO:0005179[hormone activity] GO:0005576[extracellular region] GO:0005615[extracellular space] GO:0006874[cellular calcium ion homeostasis] GO:0007165[signal transduction] GO:0007166[cell surface receptor signaling pathway] GO:0007267[cell-cell signaling] GO:0008015[blood circulation] GO:0008284[positive regulation of cell population proliferation] GO:0010460[positive regulation of heart rate] GO:0010468[regulation of gene expression] GO:0014826[vein smooth muscle contraction] GO:0019229[regulation of vasoconstriction] GO:0030072[peptide hormone secretion] GO:0030593[neutrophil chemotaxis] GO:0031708[endothelin B receptor binding] GO:0042310[vasoconstriction] GO:0043406[positive regulation of MAP kinase activity] GO:0045597[positive regulation of cell differentiation] GO:0045840[positive regulation of mitotic nuclear division] GO:0046887[positive regulation of hormone secretion] GO:0048016[inositol phosphate-mediated signaling] GO:0060585[positive regulation of prostaglandin-endoperoxide synthase activity] GO:0065008[regulation of biological quality] GO:0097746[blood vessel diameter maintenance]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Other congenital disorders of metabolism Congenital malformations Congenital malformations of the digestive system