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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 Enzymes Human disease related genes Plasma proteins Potential drug targets Transporters
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
q13.2
Chromosome location (bp)
56076799 - 56103505
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Tyrosine-protein kinase that plays an essential role as cell surface receptor for neuregulins. Binds to neuregulin-1 (NRG1) and is activated by it; ligand-binding increases phosphorylation on tyrosine residues and promotes its association with the p85 subunit of phosphatidylinositol 3-kinase 1. May also be activated by CSPG5 2. Involved in the regulation of myeloid cell differentiation 3....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
ATP-binding, Nucleotide-binding
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes a member of the epidermal growth factor receptor (EGFR) family of receptor tyrosine kinases. This membrane-bound protein has a neuregulin binding domain but not an active kinase domain. It therefore can bind this ligand but not convey the signal into the cell through protein phosphorylation. However, it does form heterodimers with other EGF receptor family members which do have kinase activity. Heterodimerization leads to the activation of pathways which lead to cell proliferation or differentiation. Amplification of this gene and/or overexpression of its protein have been reported in numerous cancers, including prostate, bladder, and breast tumors. Alternate transcriptional splice variants encoding different isoforms have been characterized. One isoform lacks the intermembrane region and is secreted outside the cell. This form acts to modulate the activity of the membrane-bound form. Additional splice variants have also been reported, but they have not been thoroughly characterized. [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.
Enzymes ENZYME proteins Transferases Kinases Tyr protein kinases Transporters Accessory Factors Involved in 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 Plasma proteins Cancer-related genes Candidate cancer biomarkers Mutated cancer genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations Disease related genes Potential drug targets Human disease related genes Congenital malformations Congenital malformations of the musculoskeletal system Endocrine and metabolic diseases Diabetes Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0000166[nucleotide binding] GO:0004672[protein kinase activity] GO:0004888[transmembrane signaling receptor activity] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005576[extracellular region] GO:0005615[extracellular space] GO:0005886[plasma membrane] GO:0006468[protein phosphorylation] GO:0007162[negative regulation of cell adhesion] GO:0007165[signal transduction] GO:0007166[cell surface receptor signaling pathway] GO:0007169[transmembrane receptor protein tyrosine kinase signaling pathway] GO:0007422[peripheral nervous system development] GO:0007507[heart development] GO:0008284[positive regulation of cell population proliferation] GO:0009925[basal plasma membrane] GO:0009968[negative regulation of signal transduction] GO:0014037[Schwann cell differentiation] GO:0014065[phosphatidylinositol 3-kinase signaling] GO:0014068[positive regulation of phosphatidylinositol 3-kinase signaling] GO:0016020[membrane] GO:0016301[kinase activity] GO:0016310[phosphorylation] GO:0016323[basolateral plasma membrane] GO:0016740[transferase activity] GO:0019838[growth factor binding] GO:0021545[cranial nerve development] GO:0022008[neurogenesis] GO:0030296[protein tyrosine kinase activator activity] GO:0031625[ubiquitin protein ligase binding] GO:0033674[positive regulation of kinase activity] GO:0038131[neuregulin receptor activity] GO:0038132[neuregulin binding] GO:0038143[ERBB3:ERBB2 complex] GO:0042060[wound healing] GO:0042127[regulation of cell population proliferation] GO:0042802[identical protein binding] GO:0043066[negative regulation of apoptotic process] GO:0043125[ErbB-3 class receptor binding] GO:0043235[receptor complex] GO:0043524[negative regulation of neuron apoptotic process] GO:0046982[protein heterodimerization activity] GO:0051048[negative regulation of secretion] GO:0051402[neuron apoptotic process] GO:0061098[positive regulation of protein tyrosine kinase activity] GO:0097192[extrinsic apoptotic signaling pathway in absence of ligand] GO:0098590[plasma membrane region]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations Human disease related genes Congenital malformations Congenital malformations of the musculoskeletal system Endocrine and metabolic diseases Diabetes Protein evidence (Ezkurdia et al 2014)
B3KWG5 [Direct mapping] Receptor tyrosine-protein kinase erbB-3; cDNA FLJ43038 fis, clone BRTHA3002955, highly similar to Receptor tyrosine-protein kinase erbB-3
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SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations Human disease related genes Congenital malformations Congenital malformations of the musculoskeletal system Endocrine and metabolic diseases Diabetes Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations Human disease related genes Congenital malformations Congenital malformations of the musculoskeletal system Endocrine and metabolic diseases Diabetes Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations Human disease related genes Congenital malformations Congenital malformations of the musculoskeletal system Endocrine and metabolic diseases Diabetes Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
