ADAMTS10 (ADAM metallopeptidase with thrombospondin type 1 motif 10)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
81794
Gene name Gene Name - the full gene name approved by the HGNC.
ADAM metallopeptidase with thrombospondin type 1 motif 10
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ADAMTS10
Synonyms (NCBI Gene) Gene synonyms aliases
ADAM-TS10, ADAMTS-10, WMS, WMS1
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19p13.2
Summary Summary of gene provided in NCBI Entrez Gene.
This gene belongs to the ADAMTS (a disintegrin and metalloproteinase domain with thrombospondin type-1 motifs) family of zinc-dependent proteases. ADAMTS proteases are complex secreted enzymes containing a prometalloprotease domain of the reprolysin type
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(9)
SNP ID Visualize variation Clinical significance Consequence
rs121434357 G>A Pathogenic Coding sequence variant, 5 prime UTR variant, stop gained, genic upstream transcript variant, non coding transcript variant
rs121434358 C>T Pathogenic Coding sequence variant, missense variant, 5 prime UTR variant, genic upstream transcript variant, non coding transcript variant
rs121434359 G>A Pathogenic Coding sequence variant, 5 prime UTR variant, stop gained, genic upstream transcript variant, non coding transcript variant, upstream transcript variant
rs267606636 C>T Pathogenic Missense variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant, upstream transcript variant
rs267606637 C>A,T Pathogenic Missense variant, coding sequence variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(11)
miRTarBase ID miRNA Experiments Reference
MIRT766323 hsa-miR-3173-3p CLIP-seq
MIRT766324 hsa-miR-4723-5p CLIP-seq
MIRT766325 hsa-miR-4779 CLIP-seq
MIRT1925780 hsa-miR-1207-5p CLIP-seq
MIRT1925781 hsa-miR-4763-3p CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(15)
GO ID Ontology Definition Evidence Reference
GO:0001527 Component Microfibril IDA 21402694
GO:0004222 Function Metalloendopeptidase activity IBA
GO:0004222 Function Metalloendopeptidase activity IEA
GO:0005515 Function Protein binding IPI 21402694, 29758265
GO:0005576 Component Extracellular region IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
608990 13201 ENSG00000142303
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q9H324
Protein name A disintegrin and metalloproteinase with thrombospondin motifs 10 (ADAM-TS 10) (ADAM-TS10) (ADAMTS-10) (EC 3.4.24.-)
Protein function Metalloprotease that participate in microfibrils assembly. Microfibrils are extracellular matrix components occurring independently or along with elastin in the formation of elastic tissues.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01562 Pep_M12B_propep 40 → 180 Reprolysin family propeptide Family
PF01421 Reprolysin 239 → 457 Reprolysin (M12B) family zinc metalloprotease Domain
PF17771 ADAM_CR_2 469 → 537 ADAM cysteine-rich domain Domain
PF00090 TSP_1 551 → 601 Thrombospondin type 1 domain Domain
PF05986 ADAM_spacer1 706 → 818 ADAM-TS Spacer 1 Family
PF19030 TSP1_ADAMTS 829 → 884 Domain
PF19030 TSP1_ADAMTS 888 → 944 Domain
PF19030 TSP1_ADAMTS 948 → 1002 Domain
PF19030 TSP1_ADAMTS 1007 → 1057 Domain
PF08686 PLAC 1069 → 1101 PLAC (protease and lacunin) domain Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed in adult tissues. {ECO:0000269|PubMed:15355968}.
Sequence 
MAPACQILRWALALGLGLMFEVTHAFRSQDEFLSSLESYEIAFPTRVDHNGALLAFSPPP
PRRQRRGTGATAESRLFYKVASPSTHFLLNLTRSSRLLAGHVSVEYWTREGLAWQRAARP
HCLYAGHLQGQASTSHVAISTCGGLHGLIVADEEEYLIEPLHGGPKGSRSPEESGPHVVY
KRSSLRHPHLDTACGVRDEKPWKGRPWWLRTLKPPPARPLGNETERGQPGLKRSVSRERY
VETLVVADKMMVAYHGRRDVEQYVLAIMNIVAKLFQDSSLGSTVNILVTRLILLTEDQPT
LEITHHAGKSLDSFCKWQKSIVNHSGHGNAIPENGVANHDTAVLITRYDICIYKNKPCGT
LGLAPVGGMCERERSCSVNEDIGLATAFTIAHEIGHTFGMNHDGVGNSCGARGQDPAKLM
AAHITMKTNPFVWSSCSRDYITSFLDSGLGLCLNNRPPRQDFVYPTVAPGQAYDADEQCR
FQHGVKSRQCKYGEVCSELWCLSKSNRCITNSIPAAEGTLCQTHTIDKGWCYKRVCVPFG
SRPEGVDGAWGPWTPWGDCSRTCGGGVSSSSRHCDSPRPTIGGKYCLGERRRHRSCNTDD
CPPGSQDFREVQCSEFDSIPFRGKFYKWKTYRGGGVKACSLTCLAEGFNFYTERAAAVVD
GTPCRPDTVDICVSGECKHVGCDRVLGSDLREDKCRVCGGDGSACETIEGVFSPASPGAG
YEDVVWIPKGSVHIFIQDLNLSLSHLALKGDQESLLLEGLPGTPQPHRLPLAGTTFQLRQ
GPDQVQSLEALGPINASLIVMVLARTELPALRYRFNAPIARDSLPPYSWHYAPWTKCSAQ
CAGGSQVQAVECRNQLDSSAVAPHYCSAHSKLPKRQRACNTEPCPPDWVVGNWSLCSRSC
DAGVRSRSVVCQRRVSAAEEKALDDSACPQPRPPVLEACHGPTCPPEWAALDWSECTPSC
GPGLRHRVVLCKSADHRATLPPAHCSPAAKPPATMRCNLRRCPPARWVAGEWGECSAQCG
VGQRQRSVRCTSHTGQASHECTEALRPPTTQQCEAKCDSPTPGDGPEECKDVNKVAYCPL
VLKFQFCSRAYFRQMCCKTCHGH
Sequence length 1103
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Defective B3GALTL causes Peters-plus syndrome (PpS)
O-glycosylation of TSR domain-containing proteins
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Weill-Marchesani Syndrome weill-marchesani syndrome 1 rs121434357, rs431825170, rs387906266, rs121434359, rs267606636, rs267606637 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Carpal Tunnel Syndrome Carpal tunnel syndrome N/A N/A GWAS
Show/Hide Text Mining Associations (10)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Brachydactyly Associate 25469541
Breast Neoplasms Associate 25261644
Carpal Tunnel Syndrome Associate 30833571
Dwarfism stiff joint ocular abnormalities Associate 25469541
Ectopia Lentis Associate 19836009
Glaucoma Associate 19836009
Growth Disorders Associate 19836009, 25469541
Microspherophakia Associate 25469541
Myopia Associate 19836009
Weill Marchesani Syndrome Associate 15368195, 19836009, 21402694, 24940034, 25469541, 27779234