GediPNet logo

ADAM17 (ADAM metallopeptidase domain 17)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6868
Gene nameGene Name - the full gene name approved by the HGNC.
ADAM metallopeptidase domain 17
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
ADAM17
SynonymsGene synonyms aliases
ADAM18, CD156B, CSVP, NISBD, NISBD1, TACE
ChromosomeChromosome number
2
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2p25.1
SummarySummary 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
SNPsSNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs387906866 GTCT>- Pathogenic 5 prime UTR variant, coding sequence variant, frameshift variant
miRNAmiRNA 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 IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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
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
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
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
Causal
Disease name Disease term dbSNP ID References
Autoinflammatory disease Autoinflammatory disorder rs777759523, rs121434352, rs28940578, rs28940580, rs121908146, rs121908148, rs121908150, rs80338807, rs121908679, rs104895319, rs104894176, rs28933973, rs28933376, rs137854447, rs61736587, rs148755083, rs104895093, rs104895311, rs104895364, rs104895352, rs104895271, rs104895238, rs151344629, rs180177431, rs376785840, rs587777241, rs77563738, rs202134424, rs864321625, rs864321682, rs864321626, rs864321684, rs864321685, rs869312838, rs869312953, rs766657895, rs140148806, rs753966933, rs764196809, rs200956636, rs147035858, rs1274685768, rs1600700389, rs1776278098, rs754904956, rs1760720617, rs1760720924 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 name Disease term dbSNP ID References
Colitis Colitis 24548422
Eosinophilia Eosinophilia
Exfoliative dermatitis Exfoliative dermatitis
Immunodeficiency without anhidrotic ectodermal dysplasia Immunodeficiency without anhidrotic ectodermal dysplasia

| © 2021, Biomedical Informatics Centre, NIRRH |
ICMR-National Institute for Research in Reproductive Health, Jehangir Merwanji Street, Parel, Mumbai-400012
Tel: +91-22-24192104, Fax No: +91-22-24139412