Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6868
Gene name Gene Name - the full gene name approved by the HGNC.
ADAM metallopeptidase domain 17
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ADAM17
Synonyms (NCBI Gene) Gene synonyms aliases
ADAM18, CD156B, CSVP, NISBD, NISBD1, TACE
Disease Acronyms (UniProt) Disease acronyms from UniProt database
NISBD1
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2p25.1
Summary Summary of gene provided in NCBI Entrez Gene.
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 i
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs387906866 GTCT>- Pathogenic 5 prime UTR variant, coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT003112 hsa-miR-122-5p Luciferase reporter assay, qRT-PCR 19296470
MIRT003112 hsa-miR-122-5p Luciferase reporter assay, qRT-PCR 19296470
MIRT003112 hsa-miR-122-5p Luciferase reporter assay, qRT-PCR 19296470
MIRT003112 hsa-miR-122-5p Luciferase reporter assay, Review 19935707
MIRT003112 hsa-miR-122-5p Review 20026422
Transcription factors
Transcription factor Regulation Reference
SP1 Activation 22705645
SP1 Unknown 19772640
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001666 Process Response to hypoxia IDA 18276953
GO:0001934 Process Positive regulation of protein phosphorylation IMP 18625725
GO:0002446 Process Neutrophil mediated immunity IC 16034137
GO:0002467 Process Germinal center formation ISS 10433800
GO:0002690 Process Positive regulation of leukocyte chemotaxis IC 16034137
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
603639 195 ENSG00000151694
Protein
UniProt ID P78536
Protein name Disintegrin and metalloproteinase domain-containing protein 17 (ADAM 17) (EC 3.4.24.86) (Snake venom-like protease) (TNF-alpha convertase) (TNF-alpha-converting enzyme) (CD antigen CD156b)
Protein function 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 (PubMed:24226769, PubMed:24227
PDB 1BKC , 1ZXC , 2A8H , 2DDF , 2FV5 , 2FV9 , 2I47 , 2M2F , 2OI0 , 3B92 , 3CKI , 3E8R , 3EDZ , 3EWJ , 3G42 , 3KMC , 3KME , 3L0T , 3L0V , 3LE9 , 3LEA , 3LGP , 3O64 , 8CQY , 8SNL , 8SNN , 8SNO , 9E6K
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01562 Pep_M12B_propep 31 167 Reprolysin family propeptide Family
PF13688 Reprolysin_5 221 451 Family
PF00200 Disintegrin 484 558 Disintegrin Domain
PF16698 ADAM17_MPD 581 642 Membrane-proximal domain, switch, for ADAM17 Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed. Expressed at highest levels in adult heart, placenta, skeletal muscle, pancreas, spleen, thymus, prostate, testes, ovary and small intestine, and in fetal brain, lung, liver and kidney. Expressed in natural kill
Sequence
MRQSLLFLTSVVPFVLAPRPPDDPGFGPHQRLEKLDSLLSDYDILSLSNIQQHSVRKRDL
QTSTHVETLLTFSALKRHFKLYLTSSTERFSQNFKVVVVDGKNESEYTVKWQDFFTGHVV
GEPDSRVLAHIRDDDVIIRINTDGAEYNIEPLWRFVNDTKDKRMLVY
KSEDIKNVSRLQS
PKVCGYLKVDNEELLPKGLVDREPPEELVHRVKRRADPDPMKNTCKLLVVADHRFYRYMG
RGEESTTTNYLIELIDRVDDIYRNTSWDNAGFKGYGIQIEQIRILKSPQEVKPGEKHYNM
AKSYPNEEKDAWDVKMLLEQFSFDIAEEASKVCLAHLFTYQDFDMGTLGLAYVGSPRANS
HGGVCPKAYYSPVGKKNIYLNSGLTSTKNYGKTILTKEADLVTTHELGHNFGAEHDPDGL
AECAPNEDQGGKYVMYPIAVSGDHENNKMFS
NCSKQSIYKTIESKAQECFQERSNKVCGN
SRVDEGEECDPGIMYLNNDTCCNSDCTLKEGVQCSDRNSPCCKNCQFETAQKKCQEAINA
TCKGVSYCTGNSSECPPP
GNAEDDTVCLDLGKCKDGKCIPFCEREQQLESCACNETDNSC
KVCCRDLSGRCVPYVDAEQKNLFLRKGKPCTVGFCDMNGKCE
KRVQDVIERFWDFIDQLS
INTFGKFLADNIVGSVLVFSLIFWIPFSILVHCVDKKLDKQYESLSLFHPSNVEMLSSMD
SASVRIIKPFPAPQTPGRLQPAPVIPSAPAAPKLDHQRMDTIQEDPSTDSHMDEDGFEKD
PFPNSSTAAKSFEDLTDHPVTRSEKAASFKLQRQNRVDSKETEC
Sequence length 824
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Efferocytosis
Notch signaling pathway
TNF signaling pathway
Alzheimer disease
Epithelial cell signaling in Helicobacter pylori infection
Coronavirus disease - COVID-19
  Regulated proteolysis of p75NTR
Constitutive Signaling by NOTCH1 PEST Domain Mutants
Constitutive Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant
Constitutive Signaling by NOTCH1 HD Domain Mutants
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
TNF signaling
CD163 mediating an anti-inflammatory response
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Autoinflammatory disease Autoinflammatory disorder rs777759523, rs121434352, rs28940578, rs28940580, rs121908146, rs121908148, rs121908150, rs80338807, rs121908679, rs104895319, rs104894176, rs28933973, rs28933376, rs137854447, rs61736587
View all (32 more)
20603312
Inflammatory skin and bowel disease INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, Neonatal inflammatory skin and bowel disease rs387906866, rs1572897958, rs1662434135, rs1662343008 22236242, 20603312, 22010916
Unknown
Disease term Disease name Evidence References Source
Inflammatory Skin And Bowel Disease neonatal inflammatory skin and bowel disease GenCC
Congenital Heart Disease congenital heart disease GenCC
Alzheimer disease Alzheimer disease GWAS
Associations from Text Mining
Disease Name Relationship Type References
Acute Kidney Injury Associate 19535569
Adenocarcinoma of Lung Associate 26111641, 28960861
Alzheimer Disease Associate 21368376, 29988083, 30045751
Alzheimer Disease Stimulate 24685635
Anti Neutrophil Cytoplasmic Antibody Associated Vasculitis Stimulate 25788529
Aortic Aneurysm Abdominal Associate 24853957
Arteriovenous Malformations Associate 29932521, 32962750
Arthritis Rheumatoid Associate 12237470, 16079149, 24314260, 30071898
Asthma Stimulate 16481637
Asthma Associate 33455043, 35130903