ENSG00000140873


Homo sapiens

Features
Gene ID: ENSG00000140873
  
Biological name :ADAMTS18
  
Synonyms : ADAM metallopeptidase with thrombospondin type 1 motif 18 / ADAMTS18 / Q8TE60
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 16
Strand: -1
Band: q23.1
Gene start: 77247813
Gene end: 77435114
  
Corresponding Affymetrix probe sets: 1553234_at (Human Genome U133 Plus 2.0 Array)   230040_at (Human Genome U133 Plus 2.0 Array)   242823_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000457395
Ensembl peptide - ENSP00000282849
Ensembl peptide - ENSP00000392540
Ensembl peptide - ENSP00000454368
NCBI entrez gene - 170692     See in Manteia.
OMIM - 607512
RefSeq - XM_017022989
RefSeq - NM_001326358
RefSeq - NM_199355
RefSeq - XM_011522923
RefSeq - XM_011522924
RefSeq - XM_017022988
RefSeq Peptide - NP_955387
RefSeq Peptide - NP_001313287
swissprot - H3BMG1
swissprot - H3BTZ3
swissprot - Q8TE60
swissprot - B4DEX3
Ensembl - ENSG00000140873
  
Related genetic diseases (OMIM): 615458 - Microcornea, myopic chorioretinal atrophy, and telecanthus, 615458
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 adamts18ENSDARG00000001999Danio rerio
 ADAMTS18ENSGALG00000005347Gallus gallus
 Q4VC17ENSMUSG00000053399Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q8TE57 / ADAMTS16 / ADAM metallopeptidase with thrombospondin type 1 motif 16ENSG0000014553656
P58397 / ADAMTS12 / ADAM metallopeptidase with thrombospondin type 1 motif 12ENSG0000015138835
Q9UKP4 / ADAMTS7 / ADAM metallopeptidase with thrombospondin type 1 motif 7ENSG0000013637835
Q9UKP5 / ADAMTS6 / ADAM metallopeptidase with thrombospondin type 1 motif 6ENSG0000004919234
Q9H324 / ADAMTS10 / ADAM metallopeptidase with thrombospondin type 1 motif 10ENSG0000014230333
Q8TE56 / ADAMTS17 / ADAM metallopeptidase with thrombospondin type 1 motif 17ENSG0000014047030
Q8TE59 / ADAMTS19 / ADAM metallopeptidase with thrombospondin type 1 motif 19ENSG0000014580830
O15072 / ADAMTS3 / ADAM metallopeptidase with thrombospondin type 1 motif 3ENSG0000015614028
Q8WXS8 / ADAMTS14 / ADAM metallopeptidase with thrombospondin type 1 motif 14ENSG0000013831628
O95450 / ADAMTS2 / ADAM metallopeptidase with thrombospondin type 1 motif 2ENSG0000008711628


Protein motifs (from Interpro)
Interpro ID Name
 IPR000884  Thrombospondin type-1 (TSP1) repeat
 IPR001590  Peptidase M12B, ADAM/reprolysin
 IPR002870  Peptidase M12B, propeptide
 IPR010294  ADAM-TS Spacer 1
 IPR010909  PLAC
 IPR024079  Metallopeptidase, catalytic domain superfamily
 IPR036383  Thrombospondin type-1 (TSP1) repeat superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001654 eye development IMP
 biological_processGO:0006508 proteolysis IEA
 biological_processGO:0007229 integrin-mediated signaling pathway IEA
 biological_processGO:0090331 negative regulation of platelet aggregation IDA
 cellular_componentGO:0005576 extracellular region IEA
 molecular_functionGO:0004222 metalloendopeptidase activity IEA
 molecular_functionGO:0008233 peptidase activity IEA
 molecular_functionGO:0008237 metallopeptidase activity IEA
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
Degradation of the extracellular matrix
Defective B3GALTL causes Peters-plus syndrome (PpS)
O-glycosylation of TSR domain-containing proteins


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000358 Posteriorly rotated ears "A type of `abnormal location of the ears` (HP:0000357) in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front)." [HPO:probinson]
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 HP:0000445 Broad nose 
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 HP:0000455 Broad nasal tip 
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 HP:0000482 Microcornea "A congenital abnormality of the `cornea` (FMA:58238) in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood." [HPO:probinson]
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 HP:0000506 Telecanthus "An abnormally increased distance between the medial canthi (angle between eyelids) of the eyelids." [HPO:curators]
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 HP:0007787 Posterior subcapsular cataracts 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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