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Aliases for ADAM17 Gene

Aliases for ADAM17 Gene

  • ADAM Metallopeptidase Domain 17 2 3 5
  • 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 58
  • TACE 3 4
  • CSVP 3 4
  • Disintegrin And Metalloproteinase Domain-Containing Protein 17 3
  • 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
  • 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 p75 NTR receptor-mediated signalling and Signaling by NOTCH1. GO annotations related to this gene include SH3 domain binding and integrin binding. An important paralog of this gene is ADAM10.

UniProtKB/Swiss-Prot for ADAM17 Gene

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

Gene Wiki entry for ADAM17 Gene

Additional gene information for ADAM17 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ADAM17 Gene

Genomics for ADAM17 Gene

Regulatory Elements for ADAM17 Gene

Enhancers for ADAM17 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02H009546 1.8 FANTOM5 ENCODE dbSUPER 29.5 +3.6 3623 10 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 SLC30A9 ADAM17 CPSF3 TAF1B ENSG00000239300 LOC101929882 IAH1 ENSG00000271855
GH02H009537 1.7 FANTOM5 Ensembl ENCODE dbSUPER 23.3 +17.1 17101 3 BMI1 EBF1 CHAMP1 CC2D1A EED ATF7 RUNX3 IKZF2 RFX1 NFIA ADAM17 IAH1 CPSF3 ENSG00000271855 ENSG00000239300
GH02H009752 1.8 FANTOM5 Ensembl ENCODE dbSUPER 17.5 -197.8 -197769 2 HDGF PKNOX1 ATF1 ARNT SIN3A TCF12 GATA2 ATF7 FOS RUNX3 ADAM17 LOC100996549 YWHAQ IAH1 KLF11 GRHL1 LOC105373420
GH02H009334 1.9 FANTOM5 Ensembl ENCODE dbSUPER 11.5 +219.4 219432 3 FOXA2 MLX ARID4B FEZF1 DMAP1 YY1 SLC30A9 SP5 ZHX2 MXD4 ASAP2 ADAM17 KIDINS220 GC02M009313 CPSF3
GH02H009738 1.5 FANTOM5 Ensembl ENCODE dbSUPER 13.8 -183.3 -183252 2 BCOR SMARCA5 PKNOX1 ZBED1 ZMYM3 ZNF217 ADNP EED KDM1A ZBTB33 ADAM17 LOC100996549 YWHAQ KLF11 RNU4-73P GC02M009741 ENSG00000244260
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ADAM17 on UCSC Golden Path with GeneCards custom track

Promoters for ADAM17 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000112604 92 2601 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B SLC30A9 ZNF207

Genomic Location for ADAM17 Gene

Chromosome:
2
Start:
9,488,486 bp from pter
End:
9,555,792 bp from pter
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.

    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

  • 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.
  • The precursor is cleaved by a furin endopeptidase.
  • Glycosylation at Asn103, posLast=157157, posLast=174174, posLast=264264, Asn452, posLast=498498, posLast=539539, posLast=551551, and posLast=594594
  • Modification sites at PhosphoSitePlus

Other Protein References for ADAM17 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for ADAM17 (TACE)
  • Santa Cruz Biotechnology (SCBT) Antibodies for ADAM17

Protein Products

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

Suggested Antigen Peptide Sequences for ADAM17 Gene

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

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
UniProtKB/Swiss-Prot CatalyticActivity:
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.
UniProtKB/Swiss-Prot Function:
Cleaves the membrane-bound precursor of TNF-alpha to its mature soluble form. Responsible for the proteolytical release of soluble JAM3 from endothelial cells surface. 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. Acts as an activator of Notch pathway by mediating cleavage of Notch, generating the membrane-associated intermediate fragment called Notch extracellular truncation (NEXT). Plays a role in the proteolytic processing of ACE2.
UniProtKB/Swiss-Prot Induction:
In arthritis-affected cartilage.

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:0004222 metalloendopeptidase activity IMP,TAS --
GO:0005112 Notch binding IDA 24226769
GO:0005138 interleukin-6 receptor binding IPI 16034137
GO:0005178 integrin binding IPI 14970227
GO:0005515 protein binding IPI 10527948
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

Clone Products

  • Applied Biological Materials Clones for ADAM17
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 5
cytosol 5
extracellular 3
endoplasmic reticulum 2
mitochondrion 1
peroxisome 1
nucleus 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

Drug Products

Transcripts for ADAM17 Gene

Unigene Clusters for ADAM17 Gene

ADAM metallopeptidase domain 17:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ADAM17
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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, PaxDb, 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(2.1)
  • Lymph node(2.1)
  • Spleen(2.1)
  • 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
Organs:
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

Primer Products

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 34
  • 99.6 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 90 (a)
OneToMany
-- 34
  • 83 (a)
OneToMany
-- 34
  • 68 (a)
OneToMany
dog
(Canis familiaris)
Mammalia ADAM17 33 34
  • 89.59 (n)
cow
(Bos Taurus)
Mammalia ADAM17 33 34
  • 88.28 (n)
mouse
(Mus musculus)
Mammalia Adam17 33 16 34
  • 88.07 (n)
rat
(Rattus norvegicus)
Mammalia Adam17 33
  • 88.03 (n)
oppossum
(Monodelphis domestica)
Mammalia ADAM17 34
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves ADAM17 33 34
  • 74.16 (n)
lizard
(Anolis carolinensis)
Reptilia ADAM17 34
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia adam17 33
  • 68.62 (n)
zebrafish
(Danio rerio)
Actinopterygii adam17b 33 34
  • 64.17 (n)
adam17a 34
  • 57 (a)
OneToMany
wufc20b01 33
fruit fly
(Drosophila melanogaster)
Insecta Tace 33 34
  • 51.35 (n)
CG7908 35
  • 41 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002381 33
  • 50.05 (n)
worm
(Caenorhabditis elegans)
Secernentea adm-4 35 33 34
  • 47.65 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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)

Paralogs for ADAM17 Gene

Paralogs for ADAM17 Gene

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

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 Sequence Context AA Info Type
rs387906866 Pathogenic 9,527,799(-) GTAGA(-/CAGA)GAACC reference, frameshift-variant, utr-variant-5-prime
rs869025265 Likely benign 9,521,313(-) AGATT(C/T)GCATT reference, missense, utr-variant-5-prime
rs1000027531 -- 9,555,351(+) CCCCA(A/G)ACTCC intron-variant
rs1000050918 -- 9,518,216(+) TTTAG(-/AT)ATGCT reference, frameshift-variant
rs1000135630 -- 9,533,796(+) ACTAC(A/G)GAGGA intron-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)

Relevant External Links 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

(22) MalaCards diseases for ADAM17 Gene - From: HGMD, OMIM, ClinVar, 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
pulmonary embolism and infarction
gastrointestinal system cancer
  • digestive system cancer
hepatic vascular disease
  • vascular disorder of liver
- 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.

Relevant External Links for ADAM17

Genetic Association Database (GAD)
ADAM17
Human Genome Epidemiology (HuGE) Navigator
ADAM17
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ADAM17
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 22 60
  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 22 45 60
  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 22 60
  4. A metalloproteinase disintegrin that releases tumour-necrosis factor-alpha from cells. (PMID: 9034190) Black RA … Cerretti DP (Nature 1997) 2 3 4 60
  5. TMPRSS2 and ADAM17 cleave ACE2 differentially and only proteolysis by TMPRSS2 augments entry driven by the severe acute respiratory syndrome coronavirus spike protein. (PMID: 24227843) Heurich A … Pöhlmann S (Journal of virology 2014) 3 4 60

Products for ADAM17 Gene

Sources for ADAM17 Gene

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