Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	81794
Gene name	ADAM metallopeptidase with thrombospondin type 1 motif 10
Gene symbol	ADAMTS10
Synonyms (NCBI Gene)	ADAM-TS10ADAMTS-10WMSWMS1
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

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
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

Show/Hide all (11)

miRTarBase ID	miRNA	Experiments
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

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
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

MIM	HGNC	e!Ensembl
608990	13201	ENSG00000142303

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

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

244

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
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

Show/Hide Unknown Diseases (19)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
-	no classification for the single variant	rs886041104, rs886041105	-
Acute myeloid leukemia	Uncertain significance; Likely benign; Benign	rs782132122, rs371557518, rs11882422, rs62621197	RCV005925553 RCV005926152 RCV005894889 RCV005894897
ADAMTS10-related disorder	Likely benign; Benign; Uncertain significance; Conflicting classifications of pathogenicity	rs148496249, rs138390118, rs538097886, rs1555736760, rs4476282, rs782606840, rs782777529, rs782817022, rs200668290, rs1555740205, rs782085654, rs782583269, rs1471904858, rs142353301, rs150203950 View all (7 more)	RCV004753306 RCV004753502 RCV003948890 RCV003968763 RCV004753527 RCV003968720 RCV003950872 RCV003898460 RCV003943469 RCV003414216 RCV003420981 RCV003909047 RCV003949042 RCV003950135 RCV003897759 RCV004752856 RCV003918250 RCV004753079 RCV003930699 RCV003912893 RCV003902969 RCV003918419
Adrenocortical carcinoma, hereditary	Benign	rs62621197	RCV005894899
Cervical cancer	Benign; Likely benign	rs11882422, rs187565033	RCV005894890 RCV005908570
Cholangiocarcinoma	Benign; Likely benign	rs11882422	RCV005894893
Clear cell carcinoma of kidney	Benign; Likely benign	rs187565033	RCV005908571
Colon adenocarcinoma	Benign	rs782811329, rs62621197	RCV005928547 RCV005894896
Familial cancer of breast	Benign; Likely benign	rs187565033	RCV005908569
Gastric cancer	Benign; Likely benign	rs11882422, rs187565033	RCV005894892 RCV005908572
Hepatocellular carcinoma	Benign	rs62621197	RCV005894898
Lung cancer	Benign; Likely benign	rs11882422	RCV005894894
Malignant lymphoma, large B-cell, diffuse	Benign	rs9749567, rs62621197	RCV005916079 RCV005894900
Ovarian serous cystadenocarcinoma	Benign; Likely benign	rs187565033	RCV005908573
Sarcoma	Uncertain significance; Benign; Likely benign	rs368873893, rs11882422	RCV005924070 RCV005894891
Thymoma	Benign; Likely benign	rs62621197, rs187565033	RCV005894901 RCV005908575
Uterine carcinosarcoma	Benign; Likely benign	rs187565033	RCV005908574
Uterine corpus endometrial carcinoma	Benign; Likely benign	rs11882422	RCV005894895
Weill-Marchesani syndrome	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs150468696, rs10405956, rs10420313, rs370179236, rs117220199, rs115093676, rs371013844, rs3814291, rs573082154, rs34057037, rs555471852, rs886054708, rs886054710, rs886054711, rs138501563 View all (100 more)	RCV001132185 RCV000263095 RCV000274556 RCV000401697 RCV000391476 RCV000391489 RCV000324826 RCV000279150 RCV000296759 RCV000333004 RCV000293038 RCV000291743 RCV000303462 RCV000355939 RCV000297144 RCV000354467 RCV000385741 RCV000327263 RCV000288010 RCV000286604 RCV000370843 RCV000365116 RCV000272986 RCV000325812 RCV000267276 RCV000374892 RCV000336588 RCV000400665 RCV000389762 RCV000350425 RCV000383937 RCV000276111 RCV000384708 RCV000339257 RCV000280804 RCV000313872 RCV000312938 RCV000377068 RCV000284001 RCV000344368 RCV000398934 RCV000304493 RCV000343260 RCV000407774 RCV000333545 RCV000345196 RCV000378837 RCV000335016 RCV000364123 RCV000317989 RCV000349163 RCV001129687 RCV001132186 RCV001132189 RCV001134589 RCV001129686 RCV001129570 RCV001134694 RCV001129567 RCV001132187 RCV001134590 RCV001132304 RCV001129688 RCV001129464 RCV001134587 RCV001132301 RCV001129357 RCV001129358 RCV001129359 RCV001129360 RCV001132069 RCV001132070 RCV001132071 RCV001132072 RCV001132073 RCV001132074 RCV001132075 RCV001133010 RCV001133011 RCV001133012 RCV001133013 RCV001129462 RCV001133116 RCV001133117 RCV001134591 RCV001129568 RCV001129569 RCV001132300 RCV001132302 RCV001132303 RCV001133232 RCV001133233 RCV001133234 RCV001133236 RCV001134690 RCV001134691 RCV001134692 RCV001134693 RCV001129683 RCV001129684 RCV001129685 RCV001132396 RCV001132397 RCV001132400 RCV001132401 RCV001133318 RCV001136450 RCV001129463 RCV001132188 RCV001133118 RCV001134588 RCV001129566 RCV001133231 RCV001133235 RCV001132398 RCV001132399 RCV001136449

Show/Hide Text Mining Associations (10)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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

ADAMTS10 (ADAM metallopeptidase with thrombospondin type 1 motif 10)