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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).
CD markers 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
11
Cytoband
p15.5
Chromosome location (bp)
2376177 - 2397802
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Structural component of specialized membrane microdomains known as tetraspanin-enriched microdomains (TERMs), which act as platforms for receptor clustering and signaling. Essential for trafficking and compartmentalization of CD19 receptor on the surface of activated B cells 1,2,3. Upon initial encounter with microbial pathogens, enables the assembly of CD19-CR2/CD21 and B cell receptor (BCR) complexes at signaling TERMs, lowering the threshold dose of antigen required to trigger B cell clonal expansion and antibody production 4,5. In T cells, facilitates the localization of CD247/CD3 zeta at antigen-induced synapses with B cells, providing for costimulation and polarization toward T helper type 2 phenotype 6,7,8. Present in MHC class II compartments, may also play a role in antigen presentation 9,10. Can act both as positive and negative regulator of homotypic or heterotypic cell-cell fusion processes. Positively regulates sperm-egg fusion and may be involved in acrosome reaction (By similarity). In myoblasts, associates with CD9 and PTGFRN and inhibits myotube fusion during muscle regeneration (By similarity). In macrophages, associates with CD9 and beta-1 and beta-2 integrins, and prevents macrophage fusion into multinucleated giant cells specialized in ingesting complement-opsonized large particles 11. Also prevents the fusion of mononuclear cell progenitors into osteoclasts in charge of bone resorption (By similarity). May regulate the compartmentalization of enzymatic activities. In T cells, defines the subcellular localization of dNTPase SAMHD1 and permits its degradation by the proteasome, thereby controlling intracellular dNTP levels 12. Also involved in cell adhesion and motility. Positively regulates integrin-mediated adhesion of macrophages, particularly relevant for the inflammatory response in the lung (By similarity)....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Host cell receptor for virus entry, Receptor
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
Lipid-binding
Gene summary (Entrez)i
Useful information about the gene from Entrez
The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins. This protein appears to promote muscle cell fusion and support myotube maintenance. Also it may be involved in signal transduction. This gene is localized in the tumor-suppressor gene region and thus it is a candidate gene for malignancies. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]...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.
CD markers Transporters Accessory Factors Involved in Transport Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 4TM proteins predicted by MDM Plasma proteins Disease related genes Potential drug targets Human disease related genes Immune system diseases Primary immunodeficiency Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) DeepTMHMM predicted membrane proteins
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GO:0001618[virus receptor activity] GO:0001771[immunological synapse formation] GO:0001772[immunological synapse] GO:0002250[adaptive immune response] GO:0002376[immune system process] GO:0002455[humoral immune response mediated by circulating immunoglobulin] GO:0002863[positive regulation of inflammatory response to antigenic stimulus] GO:0005178[integrin binding] GO:0005515[protein binding] GO:0005886[plasma membrane] GO:0005925[focal adhesion] GO:0008104[protein localization] GO:0008284[positive regulation of cell population proliferation] GO:0008289[lipid binding] GO:0009925[basal plasma membrane] GO:0014905[myoblast fusion involved in skeletal muscle regeneration] GO:0015485[cholesterol binding] GO:0016020[membrane] GO:0016021[integral component of membrane] GO:0016323[basolateral plasma membrane] GO:0023026[MHC class II protein complex binding] GO:0030890[positive regulation of B cell proliferation] GO:0031623[receptor internalization] GO:0031647[regulation of protein stability] GO:0031982[vesicle] GO:0034238[macrophage fusion] GO:0035783[CD4-positive, alpha-beta T cell costimulation] GO:0042289[MHC class II protein binding] GO:0043128[positive regulation of 1-phosphatidylinositol 4-kinase activity] GO:0043410[positive regulation of MAPK cascade] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046718[viral entry into host cell] GO:0046813[receptor-mediated virion attachment to host cell] GO:0050731[positive regulation of peptidyl-tyrosine phosphorylation] GO:0050861[positive regulation of B cell receptor signaling pathway] GO:0050862[positive regulation of T cell receptor signaling pathway] GO:0050871[positive regulation of B cell activation] GO:0061462[protein localization to lysosome] GO:0070062[extracellular exosome] GO:0070863[positive regulation of protein exit from endoplasmic reticulum] GO:0071404[cellular response to low-density lipoprotein particle stimulus] GO:0072659[protein localization to plasma membrane] GO:0072675[osteoclast fusion] GO:0097197[tetraspanin-enriched microdomain] GO:1903911[positive regulation of receptor clustering] GO:1904352[positive regulation of protein catabolic process in the vacuole] GO:1905521[regulation of macrophage migration] GO:1905676[positive regulation of adaptive immune memory response] GO:1990459[transferrin receptor binding] GO:2000145[regulation of cell motility] GO:2000553[positive regulation of T-helper 2 cell cytokine production] GO:2000563[positive regulation of CD4-positive, alpha-beta T cell proliferation] GO:2001190[positive regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell]
The Human Protein Atlas project is funded
