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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 Enzymes Human disease related genes 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
2
Cytoband
p25.1
Chromosome location (bp)
9488486 - 9556732
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Transmembrane metalloprotease which mediates the ectodomain shedding of a myriad of transmembrane proteins including adhesion proteins, growth factor precursors and cytokines important for inflammation and immunity 1,2,3,4. Cleaves the membrane-bound precursor of TNF-alpha to its mature soluble form 5,6. Responsible for the proteolytical release of soluble JAM3 from endothelial cells surface 7. Responsible for the proteolytic release of several other cell-surface proteins, including p75 TNF-receptor, interleukin 1 receptor type II, p55 TNF-receptor, transforming growth factor-alpha, L-selectin, growth hormone receptor, MUC1 and the amyloid precursor protein 8. Acts as an activator of Notch pathway by mediating cleavage of Notch, generating the membrane-associated intermediate fragment called Notch extracellular truncation (NEXT) 9. Plays a role in the proteolytic processing of ACE2 10. Plays a role in hemostasis through shedding of GP1BA, the platelet glycoprotein Ib alpha chain (By similarity). Mediates the proteolytic cleavage of LAG3, leading to release the secreted form of LAG3 (By similarity). Mediates the proteolytic cleavage of IL6R, leading to the release of secreted form of IL6R 11,12. Mediates the proteolytic cleavage and shedding of FCGR3A upon NK cell stimulation, a mechanism that allows for increased NK cell motility and detachment from opsonized target cells. Cleaves TREM2, resulting in shedding of the TREM2 ectodomain 13....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Hydrolase, Metalloprotease, Protease
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Notch signaling pathway
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
Metal-binding, Zinc
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biologic processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The encoded preproprotein is proteolytically processed to generate the mature protease. The encoded protease functions in the ectodomain shedding of tumor necrosis factor-alpha, in which soluble tumor necrosis factor-alpha is released from the membrane-bound precursor. This protease also functions in the processing of numerous other substrates, including cell adhesion proteins, cytokine and growth factor receptors and epidermal growth factor (EGF) receptor ligands, and plays a prominent role in the activation of the Notch signaling pathway. Elevated expression of this gene has been observed in specific cell types derived from psoriasis, rheumatoid arthritis, multiple sclerosis and Crohn's disease patients, suggesting that the encoded protein may play a role in autoimmune disease. Additionally, this protease may play a role in viral infection through its cleavage of ACE2, the cellular receptor for SARS-CoV and SARS-CoV-2. [provided by RefSeq, Aug 2020]...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.
P78536 [Direct mapping] Disintegrin and metalloproteinase domain-containing protein 17
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B2RNB2 [Target identity:100%; Query identity:100%] ADAM metallopeptidase domain 17; ADAM metallopeptidase domain 17 (Tumor necrosis factor, alpha, converting enzyme), isoform CRA_b; ADAM metallopeptidase domain 18
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Enzymes ENZYME proteins Hydrolases 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 1TM proteins predicted by MDM Disease related genes Potential drug targets Human disease related genes Immune system diseases Other immune system diseases 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:0000139[Golgi membrane] GO:0001666[response to hypoxia] GO:0001934[positive regulation of protein phosphorylation] GO:0002446[neutrophil mediated immunity] GO:0002467[germinal center formation] GO:0002690[positive regulation of leukocyte chemotaxis] GO:0004175[endopeptidase activity] GO:0004222[metalloendopeptidase activity] GO:0005112[Notch binding] GO:0005138[interleukin-6 receptor binding] GO:0005178[integrin binding] GO:0005515[protein binding] GO:0005737[cytoplasm] GO:0005788[endoplasmic reticulum lumen] GO:0005829[cytosol] GO:0005886[plasma membrane] GO:0005911[cell-cell junction] GO:0005925[focal adhesion] GO:0006508[proteolysis] GO:0006509[membrane protein ectodomain proteolysis] GO:0007155[cell adhesion] GO:0007173[epidermal growth factor receptor signaling pathway] GO:0007219[Notch signaling pathway] GO:0007220[Notch receptor processing] GO:0008233[peptidase activity] GO:0008237[metallopeptidase activity] GO:0008284[positive regulation of cell population proliferation] GO:0009410[response to xenobiotic stimulus] GO:0009986[cell surface] GO:0010820[positive regulation of T cell chemotaxis] GO:0015629[actin cytoskeleton] GO:0016020[membrane] GO:0016324[apical plasma membrane] GO:0016485[protein processing] GO:0016787[hydrolase activity] GO:0017124[SH3 domain binding] GO:0030165[PDZ domain binding] GO:0030183[B cell differentiation] GO:0030307[positive regulation of cell growth] GO:0030335[positive regulation of cell migration] GO:0030511[positive regulation of transforming growth factor beta receptor signaling pathway] GO:0030512[negative regulation of transforming growth factor beta receptor signaling pathway] GO:0032496[response to lipopolysaccharide] GO:0032587[ruffle membrane] GO:0032722[positive regulation of chemokine production] GO:0033025[regulation of mast cell apoptotic process] GO:0033077[T cell differentiation in thymus] GO:0033627[cell adhesion mediated by integrin] GO:0035313[wound healing, spreading of epidermal cells] GO:0035624[receptor transactivation] GO:0042987[amyloid precursor protein catabolic process] GO:0043536[positive regulation of blood vessel endothelial cell migration] GO:0045121[membrane raft] GO:0045737[positive regulation of cyclin-dependent protein serine/threonine kinase activity] GO:0045741[positive regulation of epidermal growth factor-activated receptor activity] GO:0046872[metal ion binding] GO:0048536[spleen development] GO:0048870[cell motility] GO:0050830[defense response to Gram-positive bacterium] GO:0050896[response to stimulus] GO:0071403[cellular response to high density lipoprotein particle stimulus] GO:0120163[negative regulation of cold-induced thermogenesis] GO:1900087[positive regulation of G1/S transition of mitotic cell cycle] GO:1902945[metalloendopeptidase activity involved in amyloid precursor protein catabolic process] GO:1903265[positive regulation of tumor necrosis factor-mediated signaling pathway] GO:1905564[positive regulation of vascular endothelial cell proliferation]
A0A3B3ISQ1 [Direct mapping] Disintegrin and metalloproteinase domain-containing protein 17
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Immune system diseases Other immune system diseases Protein evidence (Ezkurdia et al 2014)
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 Predicted intracellular proteins Human disease related genes Immune system diseases Other immune system diseases Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
