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 p... See more...

Aliases for ADAM17 Gene

Aliases for ADAM17 Gene

  • ADAM Metallopeptidase Domain 17 2 3 5
  • Disintegrin And Metalloproteinase Domain-Containing Protein 17 3 4
  • Tumor Necrosis Factor, Alpha, Converting Enzyme 2 3
  • Snake Venom-Like Protease 3 4
  • TNF-Alpha Convertase 3 4
  • EC 3.4.24.86 4 54
  • TACE 3 4
  • CSVP 3 4
  • ADAM Metallopeptidase Domain 18 3
  • TNF-Alpha Converting Enzyme 3
  • TNF-Alpha-Converting Enzyme 4
  • CD156b Antigen 4
  • ADAM 17 4
  • ADAM18 3
  • CD156B 3
  • NISBD1 3
  • NISBD 3

External Ids for ADAM17 Gene

Previous HGNC Symbols for ADAM17 Gene

  • TACE

Previous GeneCards Identifiers for ADAM17 Gene

  • GC02M009412
  • GC02M009680
  • GC02M009651
  • GC02M009580
  • GC02M009628

Summaries for ADAM17 Gene

Entrez Gene Summary for ADAM17 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 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. The encoded protein also 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. [provided by RefSeq, Feb 2016]

GeneCards Summary for ADAM17 Gene

ADAM17 (ADAM Metallopeptidase Domain 17) is a Protein Coding gene. Diseases associated with ADAM17 include Inflammatory Skin And Bowel Disease, Neonatal, 1 and Neonatal Inflammatory Skin And Bowel Disease. Among its related pathways are TNF signaling (REACTOME) and NOTCH2 Activation and Transmission of Signal to the Nucleus. Gene Ontology (GO) annotations related to this gene include SH3 domain binding and integrin binding. An important paralog of this gene is ADAM10.

UniProtKB/Swiss-Prot Summary for ADAM17 Gene

  • Cleaves the membrane-bound precursor of TNF-alpha to its mature soluble form (PubMed:9034191). Responsible for the proteolytical release of soluble JAM3 from endothelial cells surface (PubMed:20592283). 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 (PubMed:12441351). Acts as an activator of Notch pathway by mediating cleavage of Notch, generating the membrane-associated intermediate fragment called Notch extracellular truncation (NEXT) (PubMed:24226769). Plays a role in the proteolytic processing of ACE2 (PubMed:24227843). 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).

Gene Wiki entry for ADAM17 Gene

Additional gene information for ADAM17 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ADAM17 Gene

Genomics for ADAM17 Gene

GeneHancer (GH) Regulatory Elements for ADAM17 Gene

Promoters and enhancers for ADAM17 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ADAM17 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ADAM17 gene promoter:
  • AML1a
  • ATF
  • Bach1
  • c-Ets-1
  • Elk-1
  • En-1
  • HOXA3
  • IRF-1
  • Nkx6-1

Genomic Locations for ADAM17 Gene

Genomic Locations for ADAM17 Gene
chr2:9,488,486-9,556,732
(GRCh38/hg38)
Size:
68,247 bases
Orientation:
Minus strand
chr2:9,628,615-9,695,921
(GRCh37/hg19)
Size:
67,307 bases
Orientation:
Minus strand

Genomic View for ADAM17 Gene

Genes around ADAM17 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ADAM17 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ADAM17 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ADAM17 Gene

Proteins for ADAM17 Gene

  • Protein details for ADAM17 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P78536-ADA17_HUMAN
    Recommended name:
    Disintegrin and metalloproteinase domain-containing protein 17
    Protein Accession:
    P78536
    Secondary Accessions:
    • O60226

    Protein attributes for ADAM17 Gene

    Size:
    824 amino acids
    Molecular mass:
    93021 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • Interacts with MAD2L1, MAPK14 and MUC1 (PubMed:12441351, PubMed:20188673). Interacts with iRhom1/RHBDF1 and iRhom2/RHBDF2 (PubMed:29897333). Interacts with FRMD8 via its interaction with iRhom1/RHBDF1 and iRhom2/RHBDF2 (PubMed:29897333).

    Three dimensional structures from OCA and Proteopedia for ADAM17 Gene

    Alternative splice isoforms for ADAM17 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ADAM17 Gene

Selected DME Specific Peptides for ADAM17 Gene

P78536:
  • LGLAYVGSPR
  • CCKNCQF
  • DGLAECA

Post-translational modifications for ADAM17 Gene

  • The precursor is cleaved by a furin endopeptidase.
  • Phosphorylated. Stimulation by growth factor or phorbol 12-myristate 13-acetate induces phosphorylation of Ser-819 but decreases phosphorylation of Ser-791. Phosphorylation at THR-735 by MAPK14 is required for ADAM17-mediated ectodomain shedding.
  • Glycosylation at Asn103, Asn157, Asn174, Asn264, Asn452, Asn498, Asn539, Asn551, and Asn594
  • Ubiquitination at Lys728
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • ADA17_HUMAN (1180)

Antibody Products

  • Abcam antibodies for ADAM17
  • Santa Cruz Biotechnology (SCBT) Antibodies for ADAM17

Domains & Families for ADAM17 Gene

Gene Families for ADAM17 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • CD markers
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted membrane proteins
  • Predicted secreted proteins
  • Transporters

Suggested Antigen Peptide Sequences for ADAM17 Gene

GenScript: Design optimal peptide antigens:
  • TNF-alpha-converting enzyme (ADA17_HUMAN)
  • ADAM metallopeptidase domain 18 (B2RNB2_HUMAN)
  • ADAM17 protein (Q6P5T8_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P78536

UniProtKB/Swiss-Prot:

ADA17_HUMAN :
  • Must be membrane anchored to cleave the different substrates. The cytoplasmic domain is not required for the this activity. Only the catalytic domain is essential to shed TNF and p75 TNFR (By similarity).
Domain:
  • Must be membrane anchored to cleave the different substrates. The cytoplasmic domain is not required for the this activity. Only the catalytic domain is essential to shed TNF and p75 TNFR (By similarity).
  • The conserved cysteine present in the cysteine-switch motif binds the catalytic zinc ion, thus inhibiting the enzyme. The dissociation of the cysteine from the zinc ion upon the activation-peptide release activates the enzyme.
genes like me logo Genes that share domains with ADAM17: view

Function for ADAM17 Gene

Molecular function for ADAM17 Gene

UniProtKB/Swiss-Prot Function:
Cleaves the membrane-bound precursor of TNF-alpha to its mature soluble form (PubMed:9034191). Responsible for the proteolytical release of soluble JAM3 from endothelial cells surface (PubMed:20592283). 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 (PubMed:12441351). Acts as an activator of Notch pathway by mediating cleavage of Notch, generating the membrane-associated intermediate fragment called Notch extracellular truncation (NEXT) (PubMed:24226769). Plays a role in the proteolytic processing of ACE2 (PubMed:24227843). 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).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=Narrow endopeptidase specificity. Cleaves Pro-Leu-Ala-Gln-Ala- -Val-Arg-Ser-Ser-Ser in the membrane-bound, 26-kDa form of tumor necrosis factor alpha (TNF-alpha). Similarly cleaves other membrane-anchored, cell-surface proteins to 'shed' the extracellular domains.; EC=3.4.24.86; Evidence={ECO:0000269 PubMed:12441351, ECO:0000269 PubMed:20592283, ECO:0000269 PubMed:24227843};.
UniProtKB/Swiss-Prot Induction:
In arthritis-affected cartilage.
GENATLAS Biochemistry:
a disintegrin and metalloprotease (active) domain 17,membrane anchored cell surface adhesion protein,expressed in somatic tissues,releasing TNFA from its membrane bound precursor,also reported to cleave APP

Enzyme Numbers (IUBMB) for ADAM17 Gene

Phenotypes From GWAS Catalog for ADAM17 Gene

Gene Ontology (GO) - Molecular Function for ADAM17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004175 endopeptidase activity IMP 24990881
GO:0004222 metalloendopeptidase activity TAS,IMP --
GO:0005112 Notch binding IDA 24226769
GO:0005138 interleukin-6 receptor binding IPI 16034137
GO:0005178 integrin binding IPI 14970227
genes like me logo Genes that share ontologies with ADAM17: view
genes like me logo Genes that share phenotypes with ADAM17: view

Human Phenotype Ontology for ADAM17 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ADAM17 Gene

MGI Knock Outs for ADAM17:

Animal Model Products

  • Taconic Biosciences Mouse Models for ADAM17

CRISPR Products

miRNA for ADAM17 Gene

miRTarBase miRNAs that target ADAM17

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ADAM17

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for ADAM17 Gene

Localization for ADAM17 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ADAM17 Gene

Membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ADAM17 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 4
cytosol 4
extracellular 3
mitochondrion 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ADAM17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 25468996
GO:0005829 cytosol IDA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IDA 17786981
GO:0005911 colocalizes_with cell-cell junction IDA 14970227
genes like me logo Genes that share ontologies with ADAM17: view

Pathways & Interactions for ADAM17 Gene

genes like me logo Genes that share pathways with ADAM17: view

SIGNOR curated interactions for ADAM17 Gene

Activates:
Inactivates:
Is activated by:

Gene Ontology (GO) - Biological Process for ADAM17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001666 response to hypoxia IDA 18276953
GO:0001934 positive regulation of protein phosphorylation IMP 18625725
GO:0002446 neutrophil mediated immunity IC 16034137
GO:0002467 germinal center formation ISS 10433800
GO:0002690 positive regulation of leukocyte chemotaxis IC 16034137
genes like me logo Genes that share ontologies with ADAM17: view

Drugs & Compounds for ADAM17 Gene

(34) Drugs for ADAM17 Gene - From: DrugBank, ApexBio, DGIdb, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
(1S,3R,6S)-4-oxo-6-{4-[(2-phenylquinolin-4-yl)methoxy]phenyl}-5-azaspiro[2.4]heptane-1-carboxylic acid Experimental Pharma Target 0
(2R)-N-HYDROXY-2-[(3S)-3-METHYL-3-{4-[(2-METHYLQUINOLIN-4-YL)METHOXY]PHENYL}-2-OXOPYRROLIDIN-1-YL]PROPANAMIDE Experimental Pharma Target 0
(3S)-1-{[4-(but-2-yn-1-yloxy)phenyl]sulfonyl}pyrrolidine-3-thiol Experimental Pharma Target 0
(3S)-4-{[4-(BUT-2-YNYLOXY)PHENYL]SULFONYL}-N-HYDROXY-2,2-DIMETHYLTHIOMORPHOLINE-3-CARBOXAMIDE Experimental Pharma Target 0
3-{[4-(but-2-yn-1-yloxy)phenyl]sulfonyl}propane-1-thiol Experimental Pharma Target 0

(15) Additional Compounds for ADAM17 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(1) ApexBio Compounds for ADAM17 Gene

Compound Action Cas Number
TAPI-1 TACE/ADAM17 inhibitor 163847-77-6
genes like me logo Genes that share compounds with ADAM17: view

Transcripts for ADAM17 Gene

mRNA/cDNA for ADAM17 Gene

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ADAM17

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ADAM17 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19
SP1: -
SP2: -
SP3:
SP4:

Relevant External Links for ADAM17 Gene

GeneLoc Exon Structure for
ADAM17
ECgene alternative splicing isoforms for
ADAM17

Expression for ADAM17 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ADAM17 Gene

Protein differential expression in normal tissues from HIPED for ADAM17 Gene

This gene is overexpressed in Bone (19.7), Amniocyte (11.7), Skin (6.7), and Testis (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ADAM17 Gene



NURSA nuclear receptor signaling pathways regulating expression of ADAM17 Gene:

ADAM17

SOURCE GeneReport for Unigene cluster for ADAM17 Gene:

Hs.404914

mRNA Expression by UniProt/SwissProt for ADAM17 Gene:

P78536-ADA17_HUMAN
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.

Evidence on tissue expression from TISSUES for ADAM17 Gene

  • Liver(4.7)
  • Blood(4.5)
  • Lung(2.6)
  • Nervous system(2.5)
  • Heart(2.4)
  • Intestine(2.4)
  • Skin(2.3)
  • Kidney(2.2)
  • Lymph node(2.1)
  • Spleen(2.1)
  • Gall bladder(2)
  • Muscle(2)
  • Stomach(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ADAM17 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • respiratory
Regions:
Head and neck:
  • brain
  • ear
  • eye
  • eyelid
  • face
  • head
Thorax:
  • esophagus
  • heart
  • lung
Abdomen:
  • intestine
  • large intestine
  • small intestine
  • stomach
Pelvis:
  • anus
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
General:
  • blood
  • blood vessel
  • hair
  • skin
  • sweat gland
  • white blood cell
genes like me logo Genes that share expression patterns with ADAM17: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein tissue co-expression partners for ADAM17 Gene

Orthologs for ADAM17 Gene

This gene was present in the common ancestor of animals.

Orthologs for ADAM17 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ADAM17 33 32
  • 99.6 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 33
  • 90 (a)
OneToMany
-- 33
  • 83 (a)
OneToMany
-- 33
  • 68 (a)
OneToMany
dog
(Canis familiaris)
Mammalia ADAM17 33 32
  • 89.59 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ADAM17 33 32
  • 88.28 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Adam17 17 33 32
  • 88.07 (n)
rat
(Rattus norvegicus)
Mammalia Adam17 32
  • 88.03 (n)
oppossum
(Monodelphis domestica)
Mammalia ADAM17 33
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves ADAM17 33 32
  • 74.16 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ADAM17 33
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia adam17 32
  • 68.62 (n)
zebrafish
(Danio rerio)
Actinopterygii adam17b 33 32
  • 64.17 (n)
OneToMany
adam17a 33
  • 57 (a)
OneToMany
wufc20b01 32
fruit fly
(Drosophila melanogaster)
Insecta Tace 33 32
  • 51.35 (n)
OneToOne
CG7908 34
  • 41 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002381 32
  • 50.05 (n)
worm
(Caenorhabditis elegans)
Secernentea adm-4 33 34 32
  • 47.65 (n)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 36 (a)
OneToOne
Species where no ortholog for ADAM17 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ADAM17 Gene

ENSEMBL:
Gene Tree for ADAM17 (if available)
TreeFam:
Gene Tree for ADAM17 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ADAM17: view image

Paralogs for ADAM17 Gene

(1) SIMAP similar genes for ADAM17 Gene using alignment to 8 proteins:

  • ADA17_HUMAN
  • A6H8L4_HUMAN
  • B2RNB2_HUMAN
  • E7EUI5_HUMAN
  • Q53RF5_HUMAN
  • Q53RS1_HUMAN
  • Q53S40_HUMAN
  • Q6P5T8_HUMAN
genes like me logo Genes that share paralogs with ADAM17: view

Variants for ADAM17 Gene

Sequence variations from dbSNP and Humsavar for ADAM17 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1048485082 uncertain-significance, Inflammatory skin and bowel disease, neonatal 1 9,494,644(-) T/C coding_sequence_variant, missense_variant
rs144458353 uncertain-significance, Inflammatory skin and bowel disease, neonatal 1 9,555,553(-) G/A 5_prime_UTR_variant, coding_sequence_variant, genic_upstream_transcript_variant, missense_variant
rs144657795 uncertain-significance, Inflammatory skin and bowel disease, neonatal 1 9,493,770(-) T/C coding_sequence_variant, missense_variant
rs146893995 likely-benign, Inflammatory skin and bowel disease, neonatal 1 9,523,315(-) A/G 5_prime_UTR_variant, coding_sequence_variant, synonymous_variant
rs1553356735 uncertain-significance, Inflammatory skin and bowel disease, neonatal 1 9,493,821(-) T/A coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for ADAM17 Gene

Variant ID Type Subtype PubMed ID
nsv580915 CNV gain 21841781
nsv953444 CNV duplication 24416366

Variation tolerance for ADAM17 Gene

Residual Variation Intolerance Score: 18.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.36; 63.32% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ADAM17 Gene

Human Gene Mutation Database (HGMD)
ADAM17
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ADAM17

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ADAM17 Gene

Disorders for ADAM17 Gene

MalaCards: The human disease database

(11) MalaCards diseases for ADAM17 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
inflammatory skin and bowel disease, neonatal, 1
  • nisbd1
neonatal inflammatory skin and bowel disease
  • inflammatory skin and bowel disease, neonatal
borna disease
  • enzootic encephalomyelitis
arthritis
  • inflammatory disorder of joint
vitamin b12 deficiency
  • cobalamin deficiency
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

ADA17_HUMAN
  • Inflammatory skin and bowel disease, neonatal, 1 (NISBD1) [MIM:614328]: A disorder characterized by inflammatory features with neonatal onset, involving the skin, hair, and gut. The skin lesions involve perioral and perianal erythema, psoriasiform erythroderma, with flares of erythema, scaling, and widespread pustules. Gastrointestinal symptoms include malabsorptive diarrhea that is exacerbated by intercurrent gastrointestinal infections. The hair is short or broken, and the eyelashes and eyebrows are wiry and disorganized. {ECO:0000269 PubMed:22010916}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for ADAM17

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ADAM17: view

No data available for Genatlas for ADAM17 Gene

Publications for ADAM17 Gene

  1. TNF-alpha convertase enzyme from human arthritis-affected cartilage: isolation of cDNA by differential display, expression of the active enzyme, and regulation of TNF-alpha. (PMID: 9574564) Patel IR … Amin AR (Journal of immunology (Baltimore, Md. : 1950) 1998) 2 3 4 23 56
  2. Polymorphisms of the tumor necrosis factor-alpha (TNF) and the TNF-alpha converting enzyme (TACE/ADAM17) genes in relation to cardiovascular mortality: the AtheroGene study. (PMID: 18600307) Morange PE … Tiret L (Journal of molecular medicine (Berlin, Germany) 2008) 3 23 43 56
  3. Characterization of growth factor-induced serine phosphorylation of tumor necrosis factor-alpha converting enzyme and of an alternatively translated polypeptide. (PMID: 12621058) Fan H … Derynck R (The Journal of biological chemistry 2003) 3 4 23 56
  4. A metalloproteinase disintegrin that releases tumour-necrosis factor-alpha from cells. (PMID: 9034190) Black RA … Cerretti DP (Nature 1997) 2 3 4 56
  5. FRMD8 promotes inflammatory and growth factor signalling by stabilising the iRhom/ADAM17 sheddase complex. (PMID: 29897336) Künzel U … Freeman M (eLife 2018) 3 4 56

Products for ADAM17 Gene