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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 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
2
Cytoband
q36.3
Chromosome location (bp)
226731312 - 226799820
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
May mediate the control of various cellular processes by insulin. When phosphorylated by the insulin receptor binds specifically to various cellular proteins containing SH2 domains such as phosphatidylinositol 3-kinase p85 subunit or GRB2. Activates phosphatidylinositol 3-kinase when bound to the regulatory p85 subunit (By similarity)....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Transducer
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes a protein which is phosphorylated by insulin receptor tyrosine kinase. Mutations in this gene are associated with type II diabetes and susceptibility to insulin resistance. [provided by RefSeq, Nov 2009]...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 Plasma proteins Disease related genes Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001784[phosphotyrosine residue binding] GO:0005068[transmembrane receptor protein tyrosine kinase adaptor activity] GO:0005080[protein kinase C binding] GO:0005158[insulin receptor binding] GO:0005159[insulin-like growth factor receptor binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0005886[plasma membrane] GO:0005899[insulin receptor complex] GO:0005901[caveola] GO:0007165[signal transduction] GO:0008284[positive regulation of cell population proliferation] GO:0008286[insulin receptor signaling pathway] GO:0010907[positive regulation of glucose metabolic process] GO:0014065[phosphatidylinositol 3-kinase signaling] GO:0030159[signaling receptor complex adaptor activity] GO:0032000[positive regulation of fatty acid beta-oxidation] GO:0032868[response to insulin] GO:0032869[cellular response to insulin stimulus] GO:0042169[SH2 domain binding] GO:0042593[glucose homeostasis] GO:0043231[intracellular membrane-bounded organelle] GO:0043434[response to peptide hormone] GO:0043548[phosphatidylinositol 3-kinase binding] GO:0043552[positive regulation of phosphatidylinositol 3-kinase activity] GO:0045725[positive regulation of glycogen biosynthetic process] GO:0046326[positive regulation of glucose import] GO:0046627[negative regulation of insulin receptor signaling pathway] GO:0046628[positive regulation of insulin receptor signaling pathway] GO:0046676[negative regulation of insulin secretion] GO:0048009[insulin-like growth factor receptor signaling pathway] GO:0071398[cellular response to fatty acid]
The Human Protein Atlas project is funded
