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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 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
17
Cytoband
q25.1
Chromosome location (bp)
74748628 - 74769353
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Scaffold protein that connects plasma membrane proteins with members of the ezrin/moesin/radixin family and thereby helps to link them to the actin cytoskeleton and to regulate their surface expression. Necessary for recycling of internalized ADRB2. Was first known to play a role in the regulation of the activity and subcellular location of SLC9A3. Necessary for cAMP-mediated phosphorylation and inhibition of SLC9A3. May enhance Wnt signaling. May participate in HTR4 targeting to microvilli (By similarity). Involved in the regulation of phosphate reabsorption in the renal proximal tubules. Involved in sperm capacitation. May participate in the regulation of the chloride and bicarbonate homeostasis in spermatozoa....show less
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Wnt signaling pathway
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes a sodium/hydrogen exchanger regulatory cofactor. The protein interacts with and regulates various proteins including the cystic fibrosis transmembrane conductance regulator and G-protein coupled receptors such as the beta2-adrenergic receptor and the parathyroid hormone 1 receptor. The protein also interacts with proteins that function as linkers between integral membrane and cytoskeletal proteins. The protein localizes to actin-rich structures including membrane ruffles, microvilli, and filopodia. Mutations in this gene result in hypophosphatemic nephrolithiasis/osteoporosis type 2, and loss of heterozygosity of this gene is implicated in breast cancer.[provided by RefSeq, Sep 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.
Transporters Accessory Factors Involved in Transport Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Disease related genes Potential drug targets Human disease related genes Musculoskeletal diseases Skeletal diseases Urinary system diseases Kidney diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0001726[ruffle] GO:0002009[morphogenesis of an epithelium] GO:0003096[renal sodium ion transport] GO:0005102[signaling receptor binding] GO:0005515[protein binding] GO:0005737[cytoplasm] GO:0005886[plasma membrane] GO:0005902[microvillus] GO:0006814[sodium ion transport] GO:0007009[plasma membrane organization] GO:0007097[nuclear migration] GO:0007191[adenylate cyclase-activating dopamine receptor signaling pathway] GO:0007605[sensory perception of sound] GO:0008013[beta-catenin binding] GO:0008104[protein localization] GO:0008285[negative regulation of cell population proliferation] GO:0008360[regulation of cell shape] GO:0008361[regulation of cell size] GO:0010642[negative regulation of platelet-derived growth factor receptor signaling pathway] GO:0010761[fibroblast migration] GO:0010764[negative regulation of fibroblast migration] GO:0010766[negative regulation of sodium ion transport] GO:0012505[endomembrane system] GO:0014067[negative regulation of phosphatidylinositol 3-kinase signaling] GO:0015185[gamma-aminobutyric acid transmembrane transporter activity] GO:0015629[actin cytoskeleton] GO:0016020[membrane] GO:0016055[Wnt signaling pathway] GO:0016324[apical plasma membrane] GO:0017081[chloride channel regulator activity] GO:0019902[phosphatase binding] GO:0019904[protein domain specific binding] GO:0022612[gland morphogenesis] GO:0030033[microvillus assembly] GO:0030036[actin cytoskeleton organization] GO:0030165[PDZ domain binding] GO:0030175[filopodium] GO:0030643[cellular phosphate ion homeostasis] GO:0031526[brush border membrane] GO:0031528[microvillus membrane] GO:0031698[beta-2 adrenergic receptor binding] GO:0031799[type 2 metabotropic glutamate receptor binding] GO:0031800[type 3 metabotropic glutamate receptor binding] GO:0031982[vesicle] GO:0032415[regulation of sodium:proton antiporter activity] GO:0032416[negative regulation of sodium:proton antiporter activity] GO:0032420[stereocilium] GO:0032426[stereocilium tip] GO:0032782[bile acid secretion] GO:0034635[glutathione transport] GO:0034767[positive regulation of ion transmembrane transport] GO:0042802[identical protein binding] GO:0042995[cell projection] GO:0043495[protein-membrane adaptor activity] GO:0043621[protein self-association] GO:0044782[cilium organization] GO:0044877[protein-containing complex binding] GO:0045121[membrane raft] GO:0045159[myosin II binding] GO:0045177[apical part of cell] GO:0045198[establishment of epithelial cell apical/basal polarity] GO:0045199[maintenance of epithelial cell apical/basal polarity] GO:0045859[regulation of protein kinase activity] GO:0045930[negative regulation of mitotic cell cycle] GO:0047485[protein N-terminus binding] GO:0048471[perinuclear region of cytoplasm] GO:0050780[dopamine receptor binding] GO:0051649[establishment of localization in cell] GO:0051683[establishment of Golgi localization] GO:0051898[negative regulation of protein kinase B signaling] GO:0051939[gamma-aminobutyric acid import] GO:0060088[auditory receptor cell stereocilium organization] GO:0060090[molecular adaptor activity] GO:0060158[phospholipase C-activating dopamine receptor signaling pathway] GO:0065003[protein-containing complex assembly] GO:0070062[extracellular exosome] GO:0070293[renal absorption] GO:0070373[negative regulation of ERK1 and ERK2 cascade] GO:0070851[growth factor receptor binding] GO:0071944[cell periphery] GO:0072659[protein localization to plasma membrane] GO:0090090[negative regulation of canonical Wnt signaling pathway] GO:0090660[cerebrospinal fluid circulation] GO:0097225[sperm midpiece] GO:0097291[renal phosphate ion absorption] GO:0098739[import across plasma membrane] GO:0098797[plasma membrane protein complex] GO:0150104[transport across blood-brain barrier] GO:1903402[regulation of renal phosphate excretion] GO:2000146[negative regulation of cell motility] GO:2001244[positive regulation of intrinsic apoptotic signaling pathway]
Transporters Accessory Factors Involved in Transport Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Disease related genes Potential drug targets Human disease related genes Musculoskeletal diseases Skeletal diseases Urinary system diseases Kidney diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001726[ruffle] GO:0002009[morphogenesis of an epithelium] GO:0005102[signaling receptor binding] GO:0005515[protein binding] GO:0005737[cytoplasm] GO:0005886[plasma membrane] GO:0005902[microvillus] GO:0007009[plasma membrane organization] GO:0007097[nuclear migration] GO:0008013[beta-catenin binding] GO:0008285[negative regulation of cell population proliferation] GO:0008360[regulation of cell shape] GO:0008361[regulation of cell size] GO:0010642[negative regulation of platelet-derived growth factor receptor signaling pathway] GO:0012505[endomembrane system] GO:0014067[negative regulation of phosphatidylinositol 3-kinase signaling] GO:0015185[gamma-aminobutyric acid transmembrane transporter activity] GO:0015629[actin cytoskeleton] GO:0016020[membrane] GO:0016055[Wnt signaling pathway] GO:0016324[apical plasma membrane] GO:0017081[chloride channel regulator activity] GO:0019902[phosphatase binding] GO:0022612[gland morphogenesis] GO:0030033[microvillus assembly] GO:0030165[PDZ domain binding] GO:0030175[filopodium] GO:0031528[microvillus membrane] GO:0031698[beta-2 adrenergic receptor binding] GO:0031799[type 2 metabotropic glutamate receptor binding] GO:0031800[type 3 metabotropic glutamate receptor binding] GO:0031982[vesicle] GO:0032415[regulation of sodium:proton antiporter activity] GO:0032782[bile acid secretion] GO:0034635[glutathione transport] GO:0042802[identical protein binding] GO:0042995[cell projection] GO:0043495[protein-membrane adaptor activity] GO:0043621[protein self-association] GO:0044782[cilium organization] GO:0045198[establishment of epithelial cell apical/basal polarity] GO:0045199[maintenance of epithelial cell apical/basal polarity] GO:0045859[regulation of protein kinase activity] GO:0045930[negative regulation of mitotic cell cycle] GO:0048471[perinuclear region of cytoplasm] GO:0051683[establishment of Golgi localization] GO:0051898[negative regulation of protein kinase B signaling] GO:0051939[gamma-aminobutyric acid import] GO:0060090[molecular adaptor activity] GO:0065003[protein-containing complex assembly] GO:0070062[extracellular exosome] GO:0070293[renal absorption] GO:0070373[negative regulation of ERK1 and ERK2 cascade] GO:0070851[growth factor receptor binding] GO:0071944[cell periphery] GO:0072659[protein localization to plasma membrane] GO:0090090[negative regulation of canonical Wnt signaling pathway] GO:0090660[cerebrospinal fluid circulation] GO:0097225[sperm midpiece] GO:0097291[renal phosphate ion absorption] GO:0098739[import across plasma membrane] GO:0098797[plasma membrane protein complex] GO:0150104[transport across blood-brain barrier] GO:2001244[positive regulation of intrinsic apoptotic signaling pathway]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Musculoskeletal diseases Skeletal diseases Urinary system diseases Kidney diseases Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
