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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 Plasma proteins
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
8
Cytoband
p12
Chromosome location (bp)
31639222 - 32855666
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Direct ligand for ERBB3 and ERBB4 tyrosine kinase receptors. Concomitantly recruits ERBB1 and ERBB2 coreceptors, resulting in ligand-stimulated tyrosine phosphorylation and activation of the ERBB receptors. The multiple isoforms perform diverse functions such as inducing growth and differentiation of epithelial, glial, neuronal, and skeletal muscle cells; inducing expression of acetylcholine receptor in synaptic vesicles during the formation of the neuromuscular junction; stimulating lobuloalveolar budding and milk production in the mammary gland and inducing differentiation of mammary tumor cells; stimulating Schwann cell proliferation; implication in the development of the myocardium such as trabeculation of the developing heart. Isoform 10 may play a role in motor and sensory neuron development. Binds to ERBB4 1,2. Binds to ERBB3 3. Acts as a ligand for integrins and binds (via EGF domain) to integrins ITGAV:ITGB3 or ITGA6:ITGB4. Its binding to integrins and subsequent ternary complex formation with integrins and ERRB3 are essential for NRG1-ERBB signaling. Induces the phosphorylation and activation of MAPK3/ERK1, MAPK1/ERK2 and AKT1 4. Ligand-dependent ERBB4 endocytosis is essential for the NRG1-mediated activation of these kinases in neurons (By similarity)....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Growth factor
Gene summary (Entrez)i
Useful information about the gene from Entrez
The protein encoded by this gene is a membrane glycoprotein that mediates cell-cell signaling and plays a critical role in the growth and development of multiple organ systems. An extraordinary variety of different isoforms are produced from this gene through alternative promoter usage and splicing. These isoforms are expressed in a tissue-specific manner and differ significantly in their structure, and are classified as types I, II, III, IV, V and VI. Dysregulation of this gene has been linked to diseases such as cancer, schizophrenia, and bipolar disorder (BPD). [provided by RefSeq, Apr 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 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 Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Human disease related genes Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Human disease related genes Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
MEMSAT3 predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Plasma proteins Cancer-related genes Candidate cancer biomarkers COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Disease related genes Human disease related genes Other diseases Mental and behavioural disorders Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0003222[ventricular trabecula myocardium morphogenesis] GO:0003712[transcription coregulator activity] GO:0005102[signaling receptor binding] GO:0005125[cytokine activity] GO:0005178[integrin binding] GO:0005576[extracellular region] GO:0005615[extracellular space] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005886[plasma membrane] GO:0006351[DNA-templated transcription] GO:0007154[cell communication] GO:0007171[activation of transmembrane receptor protein tyrosine kinase activity] GO:0007399[nervous system development] GO:0008083[growth factor activity] GO:0008284[positive regulation of cell population proliferation] GO:0010667[negative regulation of cardiac muscle cell apoptotic process] GO:0014032[neural crest cell development] GO:0016020[membrane] GO:0030154[cell differentiation] GO:0030296[protein tyrosine kinase activator activity] GO:0030297[transmembrane receptor protein tyrosine kinase activator activity] GO:0030307[positive regulation of cell growth] GO:0030879[mammary gland development] GO:0030971[receptor tyrosine kinase binding] GO:0031334[positive regulation of protein-containing complex assembly] GO:0032148[activation of protein kinase B activity] GO:0035556[intracellular signal transduction] GO:0038127[ERBB signaling pathway] GO:0038129[ERBB3 signaling pathway] GO:0038130[ERBB4 signaling pathway] GO:0038133[ERBB2-ERBB3 signaling pathway] GO:0038135[ERBB2-ERBB4 signaling pathway] GO:0038138[ERBB4-ERBB4 signaling pathway] GO:0042060[wound healing] GO:0043125[ErbB-3 class receptor binding] GO:0045499[chemorepellent activity] GO:0045892[negative regulation of DNA-templated transcription] GO:0048018[receptor ligand activity] GO:0048513[animal organ development] GO:0050919[negative chemotaxis] GO:0051048[negative regulation of secretion] GO:0051155[positive regulation of striated muscle cell differentiation] GO:0055007[cardiac muscle cell differentiation] GO:0055012[ventricular cardiac muscle cell differentiation] GO:0060045[positive regulation of cardiac muscle cell proliferation] GO:0060379[cardiac muscle cell myoblast differentiation] GO:0060956[endocardial cell differentiation] GO:0070374[positive regulation of ERK1 and ERK2 cascade] GO:0110165[cellular anatomical entity] GO:2001240[negative regulation of extrinsic apoptotic signaling pathway in absence of ligand]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes Candidate cancer biomarkers COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Disease related genes Human disease related genes Other diseases Mental and behavioural disorders Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0003222[ventricular trabecula myocardium morphogenesis] GO:0003712[transcription coregulator activity] GO:0005102[signaling receptor binding] GO:0005125[cytokine activity] GO:0005178[integrin binding] GO:0005576[extracellular region] GO:0005615[extracellular space] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005886[plasma membrane] GO:0006351[DNA-templated transcription] GO:0007154[cell communication] GO:0007171[activation of transmembrane receptor protein tyrosine kinase activity] GO:0007399[nervous system development] GO:0008083[growth factor activity] GO:0008284[positive regulation of cell population proliferation] GO:0014032[neural crest cell development] GO:0016020[membrane] GO:0030154[cell differentiation] GO:0030296[protein tyrosine kinase activator activity] GO:0030297[transmembrane receptor protein tyrosine kinase activator activity] GO:0030879[mammary gland development] GO:0030971[receptor tyrosine kinase binding] GO:0031334[positive regulation of protein-containing complex assembly] GO:0032148[activation of protein kinase B activity] GO:0035556[intracellular signal transduction] GO:0038127[ERBB signaling pathway] GO:0038129[ERBB3 signaling pathway] GO:0038130[ERBB4 signaling pathway] GO:0038133[ERBB2-ERBB3 signaling pathway] GO:0038135[ERBB2-ERBB4 signaling pathway] GO:0038138[ERBB4-ERBB4 signaling pathway] GO:0042060[wound healing] GO:0043125[ErbB-3 class receptor binding] GO:0045499[chemorepellent activity] GO:0045892[negative regulation of DNA-templated transcription] GO:0048018[receptor ligand activity] GO:0048513[animal organ development] GO:0050919[negative chemotaxis] GO:0051048[negative regulation of secretion] GO:0051155[positive regulation of striated muscle cell differentiation] GO:0055007[cardiac muscle cell differentiation] GO:0060379[cardiac muscle cell myoblast differentiation] GO:0060956[endocardial cell differentiation] GO:0070374[positive regulation of ERK1 and ERK2 cascade] GO:0110165[cellular anatomical entity]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Human disease related genes Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Human disease related genes Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Human disease related genes Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
