ADAMTS10 (ADAM metallopeptidase with thrombospondin type 1 motif 10)

Gene

• Entrez ID: 81794
• Gene name: ADAM metallopeptidase with thrombospondin type 1 motif 10
• Gene symbol: ADAMTS10
• Synonyms (NCBI Gene): ADAM-TS10, ADAMTS-10, WMS, WMS1
• Chromosome: 19
• Chromosome location: 19p13.2
• Summary: 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 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
rs387906266	C>T	Pathogenic	Splice donor variant, genic upstream transcript variant
rs431825170	C>T	Pathogenic	Splice donor variant, genic upstream transcript variant, upstream transcript variant
rs886041104	A>G	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs886041105	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant

miRNA

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
MIRT1925782	hsa-miR-637	CLIP-seq
MIRT1925780	hsa-miR-1207-5p	CLIP-seq
MIRT2383886	hsa-miR-296-5p	CLIP-seq
MIRT2383887	hsa-miR-4258	CLIP-seq
MIRT2383888	hsa-miR-4436b-3p	CLIP-seq
MIRT1925781	hsa-miR-4763-3p	CLIP-seq

Gene ontology (GO)

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
GO:0006508	Process	Proteolysis	IBA
GO:0006508	Process	Proteolysis	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0008237	Function	Metallopeptidase activity	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0030198	Process	Extracellular matrix organization	IBA
GO:0030198	Process	Extracellular matrix organization	IEA
GO:0031012	Component	Extracellular matrix	IBA
GO:0031012	Component	Extracellular matrix	IDA	21402694
GO:0046872	Function	Metal ion binding	IEA

Other IDs

• MIM: 608990
• HGNC: 13201
• e!Ensembl: ENSG00000142303

Protein

• 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

Pathways

Reactome:

Defective B3GALTL causes Peters-plus syndrome (PpS)
O-glycosylation of TSR domain-containing proteins

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Weill-Marchesani syndrome 1	Pathogenic; Likely pathogenic	rs121434357, rs431825170, rs387906266, rs121434359, rs267606636, rs267606637, rs782097535, rs2512622286, rs2512575769, rs782720992, rs1159059721, rs1235872718, rs2512639575, rs1339572177	RCV000002021 RCV000002022 RCV000002023 RCV000002025 RCV000002026 RCV000002027 RCV003307344 RCV003307345 RCV003307352 RCV003307355 RCV003307356 RCV003307357 RCV003307358 RCV003307359	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Uncertain significance; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ADAMTS10-related disorder	Likely benign; Benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARPAL TUNNEL SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Weill-Marchesani syndrome	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar CTD, Disgenet, GWAS catalog, Orphanet CTD, Disgenet, GWAS catalog, Orphanet CTD, Disgenet, GWAS catalog, Orphanet CTD, Disgenet, GWAS catalog, Orphanet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
WEILL-MARCHESANI SYNDROME, AUTOSOMAL DOMINANT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WEILL-MARCHESANI SYNDROME, AUTOSOMAL RECESSIVE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acromicric Dysplasia	Acromicric Dysplasia	BEFREE	27068007		★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic Valve Sclerosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brachycephaly	Brachycephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	Pubtator	25469541	Associate	★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	25261644	Associate	★☆☆☆☆ Found in Text Mining only
Carpal Tunnel Syndrome	Carpal Tunnel Syndrome	GWASCAT_DG	30833571		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carpal Tunnel Syndrome	Carpal tunnel syndrome	Pubtator	30833571	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Connective Tissue Diseases	Connective Tissue Disease	BEFREE	30287421		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	25469541, 30060141		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ectopia Lentis	Ectopia lentis	Pubtator	19836009	Associate	★☆☆☆☆ Found in Text Mining only
Ectopia Lentis	Ectopia Lentis	BEFREE	30201140		★☆☆☆☆ Found in Text Mining only
Ectopia Lentis	Ectopia Lentis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Familial thoracic aortic aneurysm and aortic dissection	Thoracic Aortic Aneurysm And Aortic Dissection	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	Pubtator	19836009	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	24040232, 24521159		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glaucoma, Primary Open Angle	Glaucoma	BEFREE	21379321, 24521159		★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	19836009, 25469541	Associate	★☆☆☆☆ Found in Text Mining only
Hypoplasia of the maxilla	Hypoplasia of the maxilla	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of thumb	Hypoplasia Of Thumb	HPO_DG			★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	30035339		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	27923415		★☆☆☆☆ Found in Text Mining only
Microspherophakia	Microspherophakia	BEFREE	19696795		★☆☆☆☆ Found in Text Mining only
Microspherophakia	Microspherophakia	Pubtator	25469541	Associate	★☆☆☆☆ Found in Text Mining only
Microspherophakia	Microspherophakia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	Pubtator	19836009	Associate	★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Stenosis	Pulmonary Stenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	19353385, 29317603		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Severe myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spade-like hand	Spade-Like Hand	HPO_DG			★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	BEFREE	30035339		★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Weill-Marchesani syndrome	Weill-Marchesani Syndrome	GENOMICS_ENGLAND_DG	15368195		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Weill-Marchesani syndrome	Weill-Marchesani Syndrome	BEFREE	18567016, 19696795, 25469541, 27068007, 30060141, 30201140, 30287421		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Weill-Marchesani syndrome	Weill-Marchesani Syndrome	Orphanet			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Weill-Marchesani syndrome	Weill-Marchesani Syndrome	CTD_human_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
WEILL-MARCHESANI SYNDROME 1	Weill-Marchesani Syndrome	UNIPROT_DG	15368195, 18567016		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
WEILL-MARCHESANI SYNDROME 1	Weill-Marchesani Syndrome	GENOMICS_ENGLAND_DG	15368195, 30060141		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
WEILL-MARCHESANI SYNDROME 1	Weill-Marchesani Syndrome	BEFREE	25469541		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
WEILL-MARCHESANI SYNDROME 1	Weill-Marchesani Syndrome	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Weill-Marchesani Syndrome, Autosomal Dominant	Weill-Marchesani Syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Weill-Marchesani Syndrome, Autosomal Recessive	Weill-Marchesani Syndrome	BEFREE	15368195		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Weill-Marchesani Syndrome, Autosomal Recessive	Weill-Marchesani Syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Weill-Marchesani-Like Syndrome	Weill-Marchesani Syndrome	BEFREE	25957949		★☆☆☆☆ Found in Text Mining only
Williams Syndrome	Williams Syndrome	BEFREE	18567016, 19396027, 19836009, 24039088, 30060141, 30201140		★☆☆☆☆ Found in Text Mining only