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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
2
Cytoband
p16.1
Chromosome location (bp)
55287842 - 55419895
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Bifunctional modulator of guanine nucleotide-binding proteins (G proteins) 1,2. Acts as a non-receptor guanine nucleotide exchange factor which binds to and activates guanine nucleotide-binding protein G(i) alpha subunits 3,4,5,6. Also acts as a guanine nucleotide dissociation inhibitor for guanine nucleotide-binding protein G(s) subunit alpha GNAS 7. Essential for cell migration 8,9,10,11. Interacts in complex with G(i) alpha subunits with the EGFR receptor, retaining EGFR at the cell membrane following ligand stimulation and promoting EGFR signaling which triggers cell migration 12. Binding to Gi-alpha subunits displaces the beta and gamma subunits from the heterotrimeric G-protein complex which enhances phosphoinositide 3-kinase (PI3K)-dependent phosphorylation and kinase activity of AKT1/PKB 13. Phosphorylation of AKT1/PKB induces the phosphorylation of downstream effectors GSK3 and FOXO1/FKHR, and regulates DNA replication and cell proliferation (By similarity). Binds in its tyrosine-phosphorylated form to the phosphatidylinositol 3-kinase (PI3K) regulatory subunit PIK3R1 which enables recruitment of PIK3R1 to the EGFR receptor, enhancing PI3K activity and cell migration 14. Plays a role as a key modulator of the AKT-mTOR signaling pathway, controlling the tempo of the process of newborn neuron integration during adult neurogenesis, including correct neuron positioning, dendritic development and synapse formation (By similarity). Inhibition of G(s) subunit alpha GNAS leads to reduced cellular levels of cAMP and suppression of cell proliferation 15. Essential for the integrity of the actin cytoskeleton 16,17. Required for formation of actin stress fibers and lamellipodia 18. May be involved in membrane sorting in the early endosome 19. Plays a role in ciliogenesis and cilium morphology and positioning and this may partly be through regulation of the localization of scaffolding protein CROCC/Rootletin 20....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Guanine-nucleotide releasing factor
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Cilium biogenesis/degradation, DNA replication, Neurogenesis
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes a member of the Girdin family of coiled-coil domain containing proteins. The encoded protein is an actin-binding protein that is activated by the serine/threonine kinase Akt and plays a role in cytoskeleton remodeling and cell migration. The encoded protein also enhances Akt signaling by mediating phosphoinositide 3-kinase (PI3K)-dependent activation of Akt by growth factor receptor tyrosine kinases and G protein-coupled receptors. Increased expression of this gene and phosphorylation of the encoded protein may play a role in cancer metastasis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]...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 Disease related genes Human disease related genes Nervous system diseases Neurodegenerative diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001932[regulation of protein phosphorylation] GO:0001965[G-protein alpha-subunit binding] GO:0003779[actin binding] GO:0005080[protein kinase C binding] GO:0005085[guanyl-nucleotide exchange factor activity] GO:0005092[GDP-dissociation inhibitor activity] GO:0005154[epidermal growth factor receptor binding] GO:0005158[insulin receptor binding] GO:0005515[protein binding] GO:0005737[cytoplasm] GO:0005783[endoplasmic reticulum] GO:0005794[Golgi apparatus] GO:0005813[centrosome] GO:0005814[centriole] GO:0005829[cytosol] GO:0005856[cytoskeleton] GO:0005886[plasma membrane] GO:0006260[DNA replication] GO:0006275[regulation of DNA replication] GO:0007264[small GTPase mediated signal transduction] GO:0007399[nervous system development] GO:0008017[microtubule binding] GO:0010975[regulation of neuron projection development] GO:0016020[membrane] GO:0016477[cell migration] GO:0030027[lamellipodium] GO:0030030[cell projection organization] GO:0030032[lamellipodium assembly] GO:0030705[cytoskeleton-dependent intracellular transport] GO:0031122[cytoplasmic microtubule organization] GO:0031410[cytoplasmic vesicle] GO:0031929[TOR signaling] GO:0032147[activation of protein kinase activity] GO:0032148[activation of protein kinase B activity] GO:0032956[regulation of actin cytoskeleton organization] GO:0035091[phosphatidylinositol binding] GO:0036064[ciliary basal body] GO:0042127[regulation of cell population proliferation] GO:0042169[SH2 domain binding] GO:0042803[protein homodimerization activity] GO:0042995[cell projection] GO:0043184[vascular endothelial growth factor receptor 2 binding] GO:0043422[protein kinase B binding] GO:0045724[positive regulation of cilium assembly] GO:0045742[positive regulation of epidermal growth factor receptor signaling pathway] GO:0051496[positive regulation of stress fiber assembly] GO:0051959[dynein light intermediate chain binding] GO:0061024[membrane organization] GO:0072660[maintenance of protein location in plasma membrane] GO:1903566[positive regulation of protein localization to cilium]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Nervous system diseases Neurodegenerative diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001932[regulation of protein phosphorylation] GO:0001965[G-protein alpha-subunit binding] GO:0003779[actin binding] GO:0005080[protein kinase C binding] GO:0005085[guanyl-nucleotide exchange factor activity] GO:0005092[GDP-dissociation inhibitor activity] GO:0005154[epidermal growth factor receptor binding] GO:0005158[insulin receptor binding] GO:0005515[protein binding] GO:0005737[cytoplasm] GO:0005783[endoplasmic reticulum] GO:0005794[Golgi apparatus] GO:0005813[centrosome] GO:0005814[centriole] GO:0005829[cytosol] GO:0005856[cytoskeleton] GO:0005886[plasma membrane] GO:0006260[DNA replication] GO:0006275[regulation of DNA replication] GO:0007264[small GTPase mediated signal transduction] GO:0007399[nervous system development] GO:0008017[microtubule binding] GO:0010975[regulation of neuron projection development] GO:0016020[membrane] GO:0016477[cell migration] GO:0030027[lamellipodium] GO:0030030[cell projection organization] GO:0030032[lamellipodium assembly] GO:0030705[cytoskeleton-dependent intracellular transport] GO:0031122[cytoplasmic microtubule organization] GO:0031410[cytoplasmic vesicle] GO:0031929[TOR signaling] GO:0032147[activation of protein kinase activity] GO:0032148[activation of protein kinase B activity] GO:0032956[regulation of actin cytoskeleton organization] GO:0035091[phosphatidylinositol binding] GO:0036064[ciliary basal body] GO:0042127[regulation of cell population proliferation] GO:0042169[SH2 domain binding] GO:0042803[protein homodimerization activity] GO:0042995[cell projection] GO:0043184[vascular endothelial growth factor receptor 2 binding] GO:0043422[protein kinase B binding] GO:0045724[positive regulation of cilium assembly] GO:0045742[positive regulation of epidermal growth factor receptor signaling pathway] GO:0051496[positive regulation of stress fiber assembly] GO:0051959[dynein light intermediate chain binding] GO:0061024[membrane organization] GO:0072660[maintenance of protein location in plasma membrane] GO:1903566[positive regulation of protein localization to cilium]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Nervous system diseases Neurodegenerative diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001932[regulation of protein phosphorylation] GO:0001965[G-protein alpha-subunit binding] GO:0003779[actin binding] GO:0005080[protein kinase C binding] GO:0005085[guanyl-nucleotide exchange factor activity] GO:0005092[GDP-dissociation inhibitor activity] GO:0005154[epidermal growth factor receptor binding] GO:0005158[insulin receptor binding] GO:0005515[protein binding] GO:0005737[cytoplasm] GO:0005783[endoplasmic reticulum] GO:0005794[Golgi apparatus] GO:0005813[centrosome] GO:0005814[centriole] GO:0005829[cytosol] GO:0005856[cytoskeleton] GO:0005886[plasma membrane] GO:0006260[DNA replication] GO:0006275[regulation of DNA replication] GO:0007264[small GTPase mediated signal transduction] GO:0007399[nervous system development] GO:0008017[microtubule binding] GO:0010975[regulation of neuron projection development] GO:0016020[membrane] GO:0016477[cell migration] GO:0030027[lamellipodium] GO:0030030[cell projection organization] GO:0030032[lamellipodium assembly] GO:0030705[cytoskeleton-dependent intracellular transport] GO:0031122[cytoplasmic microtubule organization] GO:0031410[cytoplasmic vesicle] GO:0031929[TOR signaling] GO:0032147[activation of protein kinase activity] GO:0032148[activation of protein kinase B activity] GO:0032956[regulation of actin cytoskeleton organization] GO:0035091[phosphatidylinositol binding] GO:0036064[ciliary basal body] GO:0042127[regulation of cell population proliferation] GO:0042169[SH2 domain binding] GO:0042803[protein homodimerization activity] GO:0042995[cell projection] GO:0043184[vascular endothelial growth factor receptor 2 binding] GO:0043422[protein kinase B binding] GO:0045724[positive regulation of cilium assembly] GO:0045742[positive regulation of epidermal growth factor receptor signaling pathway] GO:0051496[positive regulation of stress fiber assembly] GO:0051959[dynein light intermediate chain binding] GO:0061024[membrane organization] GO:0072660[maintenance of protein location in plasma membrane] GO:1903566[positive regulation of protein localization to cilium]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Nervous system diseases Neurodegenerative diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001932[regulation of protein phosphorylation] GO:0001965[G-protein alpha-subunit binding] GO:0003779[actin binding] GO:0005080[protein kinase C binding] GO:0005085[guanyl-nucleotide exchange factor activity] GO:0005092[GDP-dissociation inhibitor activity] GO:0005154[epidermal growth factor receptor binding] GO:0005158[insulin receptor binding] GO:0005515[protein binding] GO:0005737[cytoplasm] GO:0005783[endoplasmic reticulum] GO:0005794[Golgi apparatus] GO:0005813[centrosome] GO:0005814[centriole] GO:0005829[cytosol] GO:0005856[cytoskeleton] GO:0005886[plasma membrane] GO:0006260[DNA replication] GO:0006275[regulation of DNA replication] GO:0007264[small GTPase mediated signal transduction] GO:0007399[nervous system development] GO:0008017[microtubule binding] GO:0010975[regulation of neuron projection development] GO:0016020[membrane] GO:0016477[cell migration] GO:0030027[lamellipodium] GO:0030030[cell projection organization] GO:0030032[lamellipodium assembly] GO:0030705[cytoskeleton-dependent intracellular transport] GO:0031122[cytoplasmic microtubule organization] GO:0031410[cytoplasmic vesicle] GO:0031929[TOR signaling] GO:0032147[activation of protein kinase activity] GO:0032148[activation of protein kinase B activity] GO:0032956[regulation of actin cytoskeleton organization] GO:0035091[phosphatidylinositol binding] GO:0036064[ciliary basal body] GO:0042127[regulation of cell population proliferation] GO:0042169[SH2 domain binding] GO:0042803[protein homodimerization activity] GO:0042995[cell projection] GO:0043184[vascular endothelial growth factor receptor 2 binding] GO:0043422[protein kinase B binding] GO:0045724[positive regulation of cilium assembly] GO:0045742[positive regulation of epidermal growth factor receptor signaling pathway] GO:0051496[positive regulation of stress fiber assembly] GO:0051959[dynein light intermediate chain binding] GO:0061024[membrane organization] GO:0072660[maintenance of protein location in plasma membrane] GO:1903566[positive regulation of protein localization to cilium]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Nervous system diseases Neurodegenerative diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001932[regulation of protein phosphorylation] GO:0001965[G-protein alpha-subunit binding] GO:0003779[actin binding] GO:0005080[protein kinase C binding] GO:0005085[guanyl-nucleotide exchange factor activity] GO:0005092[GDP-dissociation inhibitor activity] GO:0005154[epidermal growth factor receptor binding] GO:0005158[insulin receptor binding] GO:0005515[protein binding] GO:0005737[cytoplasm] GO:0005783[endoplasmic reticulum] GO:0005794[Golgi apparatus] GO:0005813[centrosome] GO:0005814[centriole] GO:0005829[cytosol] GO:0005856[cytoskeleton] GO:0005886[plasma membrane] GO:0006260[DNA replication] GO:0006275[regulation of DNA replication] GO:0007264[small GTPase mediated signal transduction] GO:0007399[nervous system development] GO:0008017[microtubule binding] GO:0010975[regulation of neuron projection development] GO:0016020[membrane] GO:0016477[cell migration] GO:0030027[lamellipodium] GO:0030030[cell projection organization] GO:0030032[lamellipodium assembly] GO:0030705[cytoskeleton-dependent intracellular transport] GO:0031122[cytoplasmic microtubule organization] GO:0031410[cytoplasmic vesicle] GO:0031929[TOR signaling] GO:0032147[activation of protein kinase activity] GO:0032148[activation of protein kinase B activity] GO:0032956[regulation of actin cytoskeleton organization] GO:0035091[phosphatidylinositol binding] GO:0036064[ciliary basal body] GO:0042127[regulation of cell population proliferation] GO:0042169[SH2 domain binding] GO:0042803[protein homodimerization activity] GO:0042995[cell projection] GO:0043184[vascular endothelial growth factor receptor 2 binding] GO:0043422[protein kinase B binding] GO:0045724[positive regulation of cilium assembly] GO:0045742[positive regulation of epidermal growth factor receptor signaling pathway] GO:0051496[positive regulation of stress fiber assembly] GO:0051959[dynein light intermediate chain binding] GO:0061024[membrane organization] GO:0072660[maintenance of protein location in plasma membrane] GO:1903566[positive regulation of protein localization to cilium]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Nervous system diseases Neurodegenerative diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001932[regulation of protein phosphorylation] GO:0001965[G-protein alpha-subunit binding] GO:0003779[actin binding] GO:0005080[protein kinase C binding] GO:0005085[guanyl-nucleotide exchange factor activity] GO:0005092[GDP-dissociation inhibitor activity] GO:0005154[epidermal growth factor receptor binding] GO:0005158[insulin receptor binding] GO:0005515[protein binding] GO:0005737[cytoplasm] GO:0005783[endoplasmic reticulum] GO:0005794[Golgi apparatus] GO:0005813[centrosome] GO:0005814[centriole] GO:0005829[cytosol] GO:0005856[cytoskeleton] GO:0005886[plasma membrane] GO:0006260[DNA replication] GO:0006275[regulation of DNA replication] GO:0007264[small GTPase mediated signal transduction] GO:0007399[nervous system development] GO:0008017[microtubule binding] GO:0010975[regulation of neuron projection development] GO:0016020[membrane] GO:0016477[cell migration] GO:0030027[lamellipodium] GO:0030030[cell projection organization] GO:0030032[lamellipodium assembly] GO:0030705[cytoskeleton-dependent intracellular transport] GO:0031122[cytoplasmic microtubule organization] GO:0031410[cytoplasmic vesicle] GO:0031929[TOR signaling] GO:0032147[activation of protein kinase activity] GO:0032148[activation of protein kinase B activity] GO:0032956[regulation of actin cytoskeleton organization] GO:0035091[phosphatidylinositol binding] GO:0036064[ciliary basal body] GO:0042127[regulation of cell population proliferation] GO:0042169[SH2 domain binding] GO:0042803[protein homodimerization activity] GO:0042995[cell projection] GO:0043184[vascular endothelial growth factor receptor 2 binding] GO:0043422[protein kinase B binding] GO:0045724[positive regulation of cilium assembly] GO:0045742[positive regulation of epidermal growth factor receptor signaling pathway] GO:0051496[positive regulation of stress fiber assembly] GO:0051959[dynein light intermediate chain binding] GO:0061024[membrane organization] GO:0072660[maintenance of protein location in plasma membrane] GO:1903566[positive regulation of protein localization to cilium]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
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