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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 56
  • 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 Telecanthus. Among its related pathways are Metabolism of proteins and O-linked glycosylation. Gene Ontology (GO) annotations related to this gene include peptidase activity and metalloendopeptidase activity. An important paralog of this gene is ADAMTS16.

Additional gene information for ADAMTS18 Gene

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

Genomics for ADAMTS18 Gene

GeneHancer (GH) Regulatory Elements for ADAMTS18 Gene

Promoters and enhancers for ADAMTS18 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16I077434 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE dbSUPER 556.7 +0.2 213 1.4 CTCF MXI1 MAZ ZNF777 ZBTB6 ZNF398 ZIC2 ZNF664 GLIS2 ZBTB26 ADAMTS18 ENSG00000260701
GH16I077433 Enhancer 0.6 FANTOM5 dbSUPER 561.7 +1.4 1407 0.4 EZH2 ADAMTS18 ENSG00000260701
GH16I077359 Enhancer 0.9 ENCODE 19.8 +75.8 75835 0.2 ELF3 FOXA2 ZNF133 SIN3A RAD21 DNMT3B ZSCAN9 RARA SMARCC2 FOS ADAMTS18 ENSG00000260701 ENSG00000261063
GH16I077353 Enhancer 0.6 ENCODE 19.4 +81.2 81150 1.5 FOXA2 REST FEZF1 ZNF843 SP1 ZNF121 ZNF580 ZBTB33 PRDM10 FOSL2 ADAMTS18 VN2R10P ENSG00000260701 ENSG00000261063
GH16I077583 Enhancer 1.1 FANTOM5 ENCODE dbSUPER 10.5 -150.3 -150296 3.2 CTCF JUN BACH1 CEBPG BATF RAD21 ZNF664 SCRT2 ZNF143 SMC3 ADAMTS18 SYCE1L LINC02131 LOC105376775
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ADAMTS18 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ADAMTS18 gene promoter:

Genomic Locations for ADAMTS18 Gene

Genomic Locations for ADAMTS18 Gene
chr16:77,247,813-77,435,114
(GRCh38/hg38)
Size:
187,302 bases
Orientation:
Minus strand
chr16:77,281,710-77,469,011
(GRCh37/hg19)

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 Asn151, Asn190, Asn313, posLast=745745, Asn838, and posLast=909909
  • Modification sites at PhosphoSitePlus

Domains & Families for ADAMTS18 Gene

Gene Families for ADAMTS18 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted secreted proteins

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.
genes like me logo Genes that share domains with ADAMTS18: view

Function for ADAMTS18 Gene

Enzyme Numbers (IUBMB) for ADAMTS18 Gene

Phenotypes From GWAS Catalog 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

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 --
genes like me logo Genes that share ontologies with ADAMTS18: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ADAMTS18 Gene

Pathways & Interactions for ADAMTS18 Gene

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

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 IEA,IDA 19218546
genes like me logo Genes that share ontologies with ADAMTS18: view

No data available for SIGNOR curated interactions for ADAMTS18 Gene

Drugs & Compounds for ADAMTS18 Gene

No Compound Related Data Available

Transcripts for ADAMTS18 Gene

Unigene Clusters for ADAMTS18 Gene

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

Inhibitory RNA Products

Clone 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 CGAP 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, PaxDb, 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.

Evidence on tissue expression from TISSUES for ADAMTS18 Gene

  • Nervous system(4.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ADAMTS18 Gene

Germ Layers:
  • ectoderm
Systems:
  • integumentary
  • nervous
  • skeleton
Regions:
Head and neck:
  • ear
  • eye
  • eyelid
  • face
  • head
  • nose
  • outer ear
  • skull
General:
  • hair
  • skin
genes like me logo Genes that share expression patterns 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 33 34
  • 99.18 (n)
dog
(Canis familiaris)
Mammalia ADAMTS18 33 34
  • 88.51 (n)
cow
(Bos Taurus)
Mammalia ADAMTS18 33 34
  • 87 (n)
rat
(Rattus norvegicus)
Mammalia Adamts18 33
  • 85.86 (n)
mouse
(Mus musculus)
Mammalia Adamts18 33 16 34
  • 85.75 (n)
oppossum
(Monodelphis domestica)
Mammalia ADAMTS18 34
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves ADAMTS18 33 34
  • 74.08 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia adamts18 33
  • 67.88 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.13335 33
zebrafish
(Danio rerio)
Actinopterygii adamts18 33 34
  • 64.95 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG4096 35
  • 31 (a)
CG3622 35
  • 28 (a)
CG14869 34
  • 21 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C37C3.6a 35
  • 34 (a)
C37C3.6b 35
  • 34 (a)
T19D2.1 35
  • 31 (a)
gon-1 34
  • 18 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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

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 Variation AA Info Type
rs148319220 pathogenic, Microcornea, myopic chorioretinal atrophy, and telecanthus, Microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) [MIM:615458] 77,335,884(-) G/A/C coding_sequence_variant, missense_variant, synonymous_variant
rs368783738 A colorectal cancer sample 77,362,176(-) C/T coding_sequence_variant, intron_variant, missense_variant
rs387906972 uncertain-significance, Knobloch syndrome 1 77,367,683(-) G/A/T 5_prime_UTR_variant, coding_sequence_variant, missense_variant, stop_gained
rs397515467 pathogenic, Microcornea, myopic chorioretinal atrophy, and telecanthus 77,322,434(-) C/A/T coding_sequence_variant, missense_variant, stop_gained
rs397515468 pathogenic, Microcornea, myopic chorioretinal atrophy, and telecanthus, Microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) [MIM:615458] 77,367,614(-) A/G 5_prime_UTR_variant, coding_sequence_variant, missense_variant

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

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

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)

Additional Variant Information 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: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
microcornea, myopic chorioretinal atrophy, and telecanthus
  • mmcat
telecanthus
knobloch syndrome
  • retinal detachment and occipital encephalocele
carotid artery occlusion
  • occlusion and stenosis of carotid artery
glaucoma-related pigment dispersion syndrome
  • pds
- 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.

Additional Disease Information for ADAMTS18

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 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 DH … Deng HW (American journal of human genetics 2009) 3 22 44 58
  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 … López-Otín C (Gene 2002) 2 3 4 58
  3. The syndrome of microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) is caused by mutations in ADAMTS18. (PMID: 23818446) Aldahmesh MA … Alkuraya FS (Human mutation 2013) 3 4 58
  4. A genome-wide search for genetic influences and biological pathways related to the brain's white matter integrity. (PMID: 22425255) Lopez LM … Deary IJ (Neurobiology of aging 2012) 3 44 58
  5. Identification of ADAMTS18 as a gene mutated in Knobloch syndrome. (PMID: 21862674) Aldahmesh MA … Alkuraya FS (Journal of medical genetics 2011) 3 4 58

Products for ADAMTS18 Gene

Sources for ADAMTS18 Gene

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