Gene Gene information from NCBI Gene database.
Entrez ID 6868
Gene name ADAM metallopeptidase domain 17
Gene symbol ADAM17
Synonyms (NCBI Gene)
ADAM18CD156BCSVPNISBDNISBD1TACE
Chromosome 2
Chromosome location 2p25.1
Summary 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.
1
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.
364
miRTarBase ID miRNA Experiments Reference
MIRT003112 hsa-miR-122-5p Luciferase reporter assayqRT-PCR 19296470
MIRT003112 hsa-miR-122-5p Luciferase reporter assayqRT-PCR 19296470
MIRT003112 hsa-miR-122-5p Luciferase reporter assayqRT-PCR 19296470
MIRT003112 hsa-miR-122-5p Luciferase reporter assayReview 19935707
MIRT003112 hsa-miR-122-5p Review 20026422
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
SP1 Activation 22705645
SP1 Unknown 19772640
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
108
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane TAS
GO:0001666 Process Response to hypoxia IDA 18276953
GO:0002446 Process Neutrophil mediated immunity IC 16034137
GO:0002467 Process Germinal center formation IEA
GO:0002467 Process Germinal center formation ISS 10433800
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603639 195 ENSG00000151694
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
483
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Inflammatory skin and bowel disease, neonatal, 1 Pathogenic; Likely pathogenic rs2124999155, rs1000050918, rs2531219086, rs2531099938, rs2531170933, rs2531193329, rs2527361700, rs2531219268, rs1558514834, rs1249324100, rs2527328347, rs2527387206, rs387906866, rs1572897958, rs1662434135
View all (1 more)
RCV001999991
RCV001959005
RCV002283667
RCV002596847
RCV002626140
RCV003016905
RCV003008253
RCV003529655
RCV003527892
RCV003643679
RCV003643963
RCV003643979
RCV003644283
RCV000023322
RCV000793588
RCV001063094
RCV001057483
Neonatal inflammatory skin and bowel disease Likely pathogenic; Pathogenic rs2531099938 RCV005370239
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs55790676 RCV005920398
ADAM17-related disorder Likely benign; Uncertain significance; Benign; Conflicting classifications of pathogenicity rs376241260, rs769247529, rs375542168, rs755105372, rs2531099779, rs781236050, rs1185937477, rs762225265, rs61754178, rs61754177, rs200399376, rs372560151 RCV003930941
RCV003908774
RCV003923471
RCV003895995
RCV003410038
RCV004756551
RCV003981701
RCV003911446
RCV003915599
RCV003980263
RCV003912974
RCV004731061
Anophthalmia-microphthalmia syndrome Likely benign rs869025265 RCV000207437
Cervical cancer Benign; Likely benign rs79715435 RCV005909509
Associations from Text MiningDisease associations identified through Pubtator
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