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Aliases for ADAMTS18 Gene

Aliases for ADAMTS18 Gene

  • ADAM Metallopeptidase With Thrombospondin Type 1 Motif, 18 2 3
  • A Disintegrin-Like And Metalloprotease (Reprolysin Type) With Thrombospondin Type 1 Motif, 18 2 3
  • ADAMTS21 3 4
  • MMCAT 3 6
  • A Disintegrin-Like And Metalloprotease (Reprolysin Type) With Thrombospondin Type 1 Motif, 21 3
  • A Disintegrin And Metalloproteinase With Thrombospondin Motifs 18 3
  • Disintegrin And Metalloprotease-Like Protein 3
  • EC 3.4.24.82 63
  • EC 3.4.24.- 4
  • ADAM-TS 18 4
  • ADAM-TS18 4
  • ADAMTS-18 4
  • KNO2 3

External Ids for ADAMTS18 Gene

Previous Symbols for ADAMTS18 Gene

  • ADAMTS21

Summaries for ADAMTS18 Gene

Entrez Gene Summary for ADAMTS18 Gene

  • This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene has a high sequence similarity to the protein encoded by gene ADAMTS16, another family member. It is thought to function as a tumor suppressor. Alternatively spliced transcript variants have been identified, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]

GeneCards Summary for ADAMTS18 Gene

ADAMTS18 (ADAM Metallopeptidase With Thrombospondin Type 1 Motif, 18) is a Protein Coding gene. Diseases associated with ADAMTS18 include microcornea, myopic chorioretinal atrophy, and telecanthus and knobloch syndrome. Among its related pathways are Degradation of the extracellular matrix and Degradation of the extracellular matrix. GO annotations related to this gene include metalloendopeptidase activity. An important paralog of this gene is ADAMTS16.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ADAMTS18 Gene

Genomics for ADAMTS18 Gene

Genomic Location for ADAMTS18 Gene

Start:
77,247,813 bp from pter
End:
77,435,114 bp from pter
Size:
187,302 bases
Orientation:
Minus strand

Genomic View for ADAMTS18 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ADAMTS18 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ADAMTS18 Gene

Regulatory Elements for ADAMTS18 Gene

Proteins for ADAMTS18 Gene

  • Protein details for ADAMTS18 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TE60-ATS18_HUMAN
    Recommended name:
    A disintegrin and metalloproteinase with thrombospondin motifs 18
    Protein Accession:
    Q8TE60
    Secondary Accessions:
    • Q6P4R5
    • Q6ZWJ9

    Protein attributes for ADAMTS18 Gene

    Size:
    1221 amino acids
    Molecular mass:
    135167 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105; Note=Binds 1 zinc ion per subunit.;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAC85503.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAC83612.1; Type=Miscellaneous discrepancy; Note=Probable intron retention.; Evidence={ECO:0000305}; Sequence=CAC83612.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence={ECO:0000305};

    Alternative splice isoforms for ADAMTS18 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ADAMTS18 Gene

Proteomics data for ADAMTS18 Gene at MOPED

Selected DME Specific Peptides for ADAMTS18 Gene

Post-translational modifications for ADAMTS18 Gene

  • Glycosylated. Can be O-fucosylated by POFUT2 on a serine or a threonine residue found within the consensus sequence C1-X(2)-(S/T)-C2-G of the TSP type-1 repeat domains where C1 and C2 are the first and second cysteine residue of the repeat, respectively. Fucosylated repeats can then be further glycosylated by the addition of a beta-1,3-glucose residue by the glucosyltransferase, B3GALTL. Fucosylation mediates the efficient secretion of ADAMTS family members. Also can be C-glycosylated with one or two mannose molecules on tryptophan residues within the consensus sequence W-X-X-W of the TPRs, and N-glycosylated. These other glycosylations can also facilitate secretion (By similarity).
  • The precursor is cleaved by a furin endopeptidase.
  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn151, Asn190, Asn313, Asn745, Asn838, and Asn909

Other Protein References for ADAMTS18 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for ADAMTS18 Gene

Gene Families for ADAMTS18 Gene

HGNC:
  • ADAMTS :ADAM metallopeptidases with thrombospondin type 1 motif
IUPHAR :

Graphical View of Domain Structure for InterPro Entry

Q8TE60

UniProtKB/Swiss-Prot:

ATS18_HUMAN
Domain:
  • 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:
    • Q8TE60
  • Contains 1 disintegrin domain.:
    • Q8TE60
  • Contains 1 peptidase M12B domain.:
    • Q8TE60
  • Contains 1 PLAC domain.:
    • Q8TE60
  • Contains 5 TSP type-1 domains.:
    • Q8TE60
genes like me logo Genes that share domains with ADAMTS18: view

Function for ADAMTS18 Gene

Enzyme Numbers (IUBMB) for ADAMTS18 Gene

Gene Ontology (GO) - Molecular Function for ADAMTS18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004222 metalloendopeptidase activity IEA --
GO:0008233 peptidase activity --
GO:0008270 zinc ion binding IEA --
genes like me logo Genes that share ontologies with ADAMTS18: view

Phenotypes for ADAMTS18 Gene

MGI mutant phenotypes for ADAMTS18:
inferred from 1 alleles
GenomeRNAi human phenotypes for ADAMTS18:
genes like me logo Genes that share phenotypes with ADAMTS18: view

No data available for Molecular function , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for ADAMTS18 Gene

Localization for ADAMTS18 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ADAMTS18 Gene

Secreted, extracellular space, extracellular matrix.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ADAMTS18 Gene COMPARTMENTS Subcellular localization image for ADAMTS18 gene
Compartment Confidence
extracellular 2
plasma membrane 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for ADAMTS18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005578 proteinaceous extracellular matrix IEA --
GO:0031012 extracellular matrix --
genes like me logo Genes that share ontologies with ADAMTS18: view

Pathways for ADAMTS18 Gene

genes like me logo Genes that share pathways with ADAMTS18: view

Pathways by source for ADAMTS18 Gene

Interacting Proteins for ADAMTS18 Gene

Gene Ontology (GO) - Biological Process for ADAMTS18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001654 eye development IMP 23818446
GO:0006508 proteolysis IEA --
GO:0007229 integrin-mediated signaling pathway --
GO:0090331 negative regulation of platelet aggregation IDA 19218546
genes like me logo Genes that share ontologies with ADAMTS18: view

Transcripts for ADAMTS18 Gene

Unigene Clusters for ADAMTS18 Gene

ADAM metallopeptidase with thrombospondin type 1 motif, 18:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ADAMTS18 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c · 4d ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b · 7c ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^
SP1: - - - -
SP2: - - - -
SP3: - - -
SP4:
SP5: - -
SP6: - -
SP7: -
SP8:
SP9:

ExUns: 17a · 17b ^ 18 ^ 19a · 19b ^ 20a · 20b ^ 21 ^ 22a · 22b ^ 23a · 23b ^ 24 ^ 25
SP1: - -
SP2: -
SP3: - - - - - -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:

Relevant External Links for ADAMTS18 Gene

GeneLoc Exon Structure for
ADAMTS18
ECgene alternative splicing isoforms for
ADAMTS18

Expression for ADAMTS18 Gene

mRNA expression in normal human tissues for ADAMTS18 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ADAMTS18 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (17.0) and Brain - Cerebellum (14.8).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for ADAMTS18 Gene

SOURCE GeneReport for Unigene cluster for ADAMTS18 Gene Hs.188746

mRNA Expression by UniProt/SwissProt for ADAMTS18 Gene

Q8TE60-ATS18_HUMAN
Tissue specificity: Expressed in fetal lung, liver, and kidney and in adult brain, prostate, submaxillary gland, and endothelium
genes like me logo Genes that share expressions with ADAMTS18: view

Orthologs for ADAMTS18 Gene

This gene was present in the common ancestor of animals.

Orthologs for ADAMTS18 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ADAMTS18 35
  • 99.18 (n)
  • 98.94 (a)
ADAMTS18 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ADAMTS18 35
  • 87 (n)
  • 89.54 (a)
ADAMTS18 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ADAMTS18 35
  • 88.51 (n)
  • 89.87 (a)
ADAMTS18 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Adamts18 35
  • 85.75 (n)
  • 88.98 (a)
Adamts18 16
Adamts18 36
  • 89 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ADAMTS18 36
  • 78 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Adamts18 35
  • 85.86 (n)
  • 88.49 (a)
chicken
(Gallus gallus)
Aves ADAMTS18 35
  • 74.08 (n)
  • 76.77 (a)
ADAMTS18 36
  • 76 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.13335 35
tropical clawed frog
(Silurana tropicalis)
Amphibia adamts18 35
  • 67.88 (n)
  • 68.39 (a)
zebrafish
(Danio rerio)
Actinopterygii adamts18 35
  • 64.95 (n)
  • 66.2 (a)
adamts18 36
  • 64 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG14869 36
  • 21 (a)
OneToMany
CG4096 37
  • 31 (a)
CG3622 37
  • 28 (a)
worm
(Caenorhabditis elegans)
Secernentea gon-1 36
  • 18 (a)
OneToMany
T19D2.1 37
  • 31 (a)
C37C3.6a 37
  • 34 (a)
C37C3.6b 37
  • 34 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 44 (a)
OneToMany
Species with no ortholog for ADAMTS18:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • 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 ADAMTS18 Gene

ENSEMBL:
Gene Tree for ADAMTS18 (if available)
TreeFam:
Gene Tree for ADAMTS18 (if available)

Paralogs for ADAMTS18 Gene

genes like me logo Genes that share paralogs with ADAMTS18: view

Variants for ADAMTS18 Gene

Sequence variations from dbSNP and Humsavar for ADAMTS18 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type MAF
rs37917 -- 77,421,924(+) AAAAT(A/T)GATCT intron-variant
rs37918 -- 77,421,841(+) ATCAC(A/C)AAAAA intron-variant
rs166673 -- 77,349,883(-) AAGCT(A/G)AGTAG intron-variant
rs169284 -- 77,380,886(+) TTTTA(C/T)TTATT intron-variant
rs175566 -- 77,381,019(+) acaag(A/G/T)gctgc intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ADAMTS18 Gene

Variant ID Type Subtype PubMed ID
nsv457541 CNV Loss 19166990
esv1576922 CNV Deletion 17803354
esv2751613 CNV Loss 17911159
esv2669432 CNV Deletion 23128226
esv999396 CNV Deletion 20482838
nsv906957 CNV Gain 21882294

Relevant External Links for ADAMTS18 Gene

HapMap Linkage Disequilibrium report
ADAMTS18
Human Gene Mutation Database (HGMD)
ADAMTS18

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ADAMTS18 Gene

Disorders for ADAMTS18 Gene

(1) OMIM Diseases for ADAMTS18 Gene (607512)

UniProtKB/Swiss-Prot

ATS18_HUMAN
  • Microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) [MIM:615458]: A ocular syndrome characterized by microcornea and myopic chorioretinal atrophy. Microcornea is defined by a corneal diameter inferior to 10 mm in both meridians in an otherwise normal eye. In addition to ocular findings, some patients have telecanthus and posteriorly rotated ears. {ECO:0000269 PubMed:23818446}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ADAMTS18

Genetic Association Database (GAD)
ADAMTS18
Human Genome Epidemiology (HuGE) Navigator
ADAMTS18
genes like me logo Genes that share disorders with ADAMTS18: view

Publications for ADAMTS18 Gene

  1. Genome-wide association and follow-up replication studies identified ADAMTS18 and TGFBR3 as bone mass candidate genes in different ethnic groups. (PMID: 19249006) Xiong D.H. … Deng H.W. (Am. J. Hum. Genet. 2009) 3 23 48
  2. Cloning, expression analysis, and structural characterization of seven novel human ADAMTSs, a family of metalloproteinases with disintegrin and thrombospondin-1 domains. (PMID: 11867212) Cal S. … Lopez-Otin C. (Gene 2002) 2 3 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  5. Epigenetic identification of ADAMTS18 as a novel 16q23.1 tumor suppressor frequently silenced in esophageal, nasopharyngeal and multiple other carcinomas. (PMID: 17546048) Jin H. … Tao Q. (Oncogene 2007) 2 3

Products for ADAMTS18 Gene

Sources for ADAMTS18 Gene

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