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Aliases for ADAMTS18 Gene

Aliases for ADAMTS18 Gene

  • ADAM Metallopeptidase With Thrombospondin Type 1 Motif 18 2 3 5
  • A Disintegrin-Like And Metalloprotease (Reprolysin Type) With Thrombospondin Type 1 Motif, 18 2 3
  • ADAMTS21 3 4
  • 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 61
  • EC 3.4.24.- 4
  • ADAM-TS 18 4
  • ADAM-TS18 4
  • ADAMTS-18 4
  • MMCAT 3
  • KNO2 3

External Ids for ADAMTS18 Gene

Previous HGNC Symbols for ADAMTS18 Gene

  • ADAMTS21

Previous GeneCards Identifiers for ADAMTS18 Gene

  • GC16M068256
  • GC16M078287
  • GC16M077065
  • GC16M077106
  • GC16M077095
  • GC16M075873
  • GC16M063072

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 encoded preproprotein is proteolytically processed to generate the mature protein, which may regulate hemostatic balance and function as a tumor suppressor. Mutations in this gene may be associated with microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) and cone-rod dystrophy in human patients. [provided by RefSeq, May 2016]

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 O-glycosylation of TSR domain-containing proteins and HIV Life Cycle. GO annotations related to this gene include peptidase activity and 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

Regulatory Elements for ADAMTS18 Gene

Enhancers for ADAMTS18 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
GH16F077359 0.9 ENCODE 19.8 +75.8 75836 0.2 ELF3 ZNF133 ZSCAN9 RAD21 DNMT3B RARA FOS CREM MIXL1 THAP11 ADAMTS18 ENSG00000260701 ENSG00000261063
GH16F077583 1.3 FANTOM5 Ensembl ENCODE 10.5 -150.3 -150296 3.2 CTCF ZNF133 JUN FEZF1 CEBPG RAD21 ZNF664 SCRT2 ZNF143 SMC3 ADAMTS18 SYCE1L LOC105371350 LOC105376775
GH16F077353 0.7 ENCODE 19.4 +81.2 81151 1.5 DPF2 FEZF1 NR3C1 ZNF843 ZNF121 CTBP1 JUND ZNF580 PRDM10 NR2F6 ADAMTS18 VN2R10P ENSG00000260701 ENSG00000261063
GH16F077307 1.1 Ensembl ENCODE 7.6 +126.9 126899 1.9 PKNOX1 INSM2 ZNF366 FOS CREM CEBPB JUNB ZEB2 TSHZ1 TBX21 SYCE1L ADAMTS18 ENSG00000261063 ENSG00000260701
GH16F077467 0.4 ENCODE 20 -33.2 -33181 1.3 RAD51 USF2 ADAMTS18 LOC105376775
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ADAMTS18 on UCSC Golden Path with GeneCards custom track

Promoters for ADAMTS18 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001802982 214 601 CTCF MAZ RNF2 CBX2 ZIC2 GLIS2 ZBTB26 EZH2 EGR2 ZNF18

Genomic Location for ADAMTS18 Gene

Chromosome:
16
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

Genes around ADAMTS18 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ADAMTS18 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ADAMTS18 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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;
    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

Selected DME Specific Peptides for ADAMTS18 Gene

Q8TE60:
  • VETLVVAD
  • CSRTCGGGV

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.
  • Glycosylation at Asn 151, Asn 190, Asn 313, Asn 745, Asn 838, and Asn 909
  • Modification sites at PhosphoSitePlus

Domains & Families for ADAMTS18 Gene

Gene Families for ADAMTS18 Gene

Graphical View of Domain Structure for InterPro Entry

Q8TE60

UniProtKB/Swiss-Prot:

ATS18_HUMAN :
  • 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.
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.
  • Contains 1 disintegrin domain.
  • Contains 1 peptidase M12B domain.
  • Contains 1 PLAC domain.
  • Contains 5 TSP type-1 domains.
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 IEA --
GO:0008237 metallopeptidase activity IEA --
GO:0008270 zinc ion binding IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with ADAMTS18: view
genes like me logo Genes that share phenotypes with ADAMTS18: view

Human Phenotype Ontology for ADAMTS18 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ADAMTS18 Gene

MGI Knock Outs for ADAMTS18:

Animal Model Products

  • Taconic Biosciences Mouse Models for ADAMTS18

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Molecular function , Transcription Factor Targets 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
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 ADAMTS18 gene
Compartment Confidence
extracellular 4
plasma membrane 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for ADAMTS18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005578 proteinaceous extracellular matrix IEA --
GO:0031012 extracellular matrix IEA --
genes like me logo Genes that share ontologies with ADAMTS18: view

Pathways & Interactions for ADAMTS18 Gene

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

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 IEA --
GO:0090331 negative regulation of platelet aggregation IDA 19218546
genes like me logo Genes that share ontologies with ADAMTS18: view

No data available for SIGNOR curated interactions for ADAMTS18 Gene

Transcripts for ADAMTS18 Gene

Unigene Clusters for ADAMTS18 Gene

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

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE 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 (x17.0) and Brain - Cerebellum (x14.8).

Protein differential expression in normal tissues from HIPED for ADAMTS18 Gene

This gene is overexpressed in Amniocyte (68.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ADAMTS18 Gene



Protein tissue co-expression partners for ADAMTS18 Gene

NURSA nuclear receptor signaling pathways regulating expression of ADAMTS18 Gene:

ADAMTS18

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 expression patterns with ADAMTS18: view

Primer Products

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 34 35
  • 99.18 (n)
dog
(Canis familiaris)
Mammalia ADAMTS18 34 35
  • 88.51 (n)
cow
(Bos Taurus)
Mammalia ADAMTS18 34 35
  • 87 (n)
rat
(Rattus norvegicus)
Mammalia Adamts18 34
  • 85.86 (n)
mouse
(Mus musculus)
Mammalia Adamts18 34 16 35
  • 85.75 (n)
oppossum
(Monodelphis domestica)
Mammalia ADAMTS18 35
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves ADAMTS18 34 35
  • 74.08 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia adamts18 34
  • 67.88 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.13335 34
zebrafish
(Danio rerio)
Actinopterygii adamts18 34 35
  • 64.95 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG4096 36
  • 31 (a)
CG3622 36
  • 28 (a)
CG14869 35
  • 21 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C37C3.6a 36
  • 34 (a)
C37C3.6b 36
  • 34 (a)
T19D2.1 36
  • 31 (a)
gon-1 35
  • 18 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 44 (a)
OneToMany
Species where no ortholog for ADAMTS18 was found in the sources mined by GeneCards:
  • 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

Variants for ADAMTS18 Gene

Sequence variations from dbSNP and Humsavar for ADAMTS18 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs148319220 Microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) [MIM:615458], Pathogenic 77,335,884(+) TTTAC(A/C/G)CACTG reference, synonymous-codon, missense
rs368783738 A colorectal cancer sample 77,362,176(+) CATGT(C/T)TCTTG intron-variant, reference, missense
rs397515468 Microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) [MIM:615458], Pathogenic 77,367,614(-) CGTAC(C/T)GTACA reference, missense, utr-variant-5-prime
rs776584074 A colorectal cancer sample 77,356,036(+) CAGCC(G/T)TTCTG reference, missense
rs397515467 Pathogenic 77,322,434(-) AGGCT(A/G/T)AGAAC reference, missense, stop-gained

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

Variant ID Type Subtype PubMed ID
nsv573124 CNV loss 21841781
nsv457541 CNV loss 19166990
nsv1160437 CNV deletion 26073780
nsv1065714 CNV loss 25217958
nsv1065048 CNV gain 25217958
nsv1060858 CNV loss 25217958
nsv1056676 CNV loss 25217958
nsv1055234 CNV gain 25217958
esv999396 CNV deletion 20482838
esv3892897 CNV gain 25118596
esv3639168 CNV gain 21293372
esv3639167 CNV loss 21293372
esv3639166 CNV loss 21293372
esv3553703 CNV deletion 23714750
esv2761916 CNV gain 21179565
esv2760419 CNV loss 21179565
esv2751613 CNV loss 17911159
esv2669432 CNV deletion 23128226
esv1576922 CNV deletion 17803354
dgv3027n100 CNV gain 25217958

Variation tolerance for ADAMTS18 Gene

Residual Variation Intolerance Score: 93.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 23.78; 99.58% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ADAMTS18 Gene

Human Gene Mutation Database (HGMD)
ADAMTS18
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ADAMTS18

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

Disorders for ADAMTS18 Gene

MalaCards: The human disease database

(9) MalaCards diseases for ADAMTS18 Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
microcornea, myopic chorioretinal atrophy, and telecanthus
  • microcornea-myopic chorioretinal atrophy-telecanthus syndrome
knobloch syndrome
  • myopia retinal detachment encephalocele
carotid artery occlusion
  • occlusion and stenosis of carotid artery
vitreoretinal dystrophy
  • vitreoretinal dystrophies
meningocele
  • meningocele [ambiguous]
- elite association - COSMIC cancer census association via MalaCards

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
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ADAMTS18
genes like me logo Genes that share disorders with ADAMTS18: view

No data available for Genatlas for ADAMTS18 Gene

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 22 46 64
  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 64
  3. The syndrome of microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) is caused by mutations in ADAMTS18. (PMID: 23818446) Aldahmesh M.A. … Alkuraya F.S. (Hum. Mutat. 2013) 3 4 64
  4. A genome-wide search for genetic influences and biological pathways related to the brain's white matter integrity. (PMID: 22425255) Lopez L.M. … Deary I.J. (Neurobiol. Aging 2012) 3 46 64
  5. Identification of ADAMTS18 as a gene mutated in Knobloch syndrome. (PMID: 21862674) Aldahmesh M.A. … Alkuraya F.S. (J. Med. Genet. 2011) 3 4 64

Products for ADAMTS18 Gene

Sources for ADAMTS18 Gene

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