ADAMTS6 (ADAM metallopeptidase with thrombospondin type 1 motif 6)

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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 11174
• Gene name: ADAM metallopeptidase with thrombospondin type 1 motif 6
• Gene symbol: ADAMTS6
• Synonyms (NCBI Gene): ADAM-TS 6, ADAM-TS6, ADAMTS-6
• Chromosome: 5
• Chromosome location: 5q12.3
• Summary: This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegri

miRNA Show/Hide all (72)

miRTarBase ID	miRNA	Experiments	Reference
MIRT019293	hsa-miR-148b-3p	Microarray	17612493
MIRT732025	hsa-miR-221-3p	Luciferase reporter assay, qRT-PCR, Western blot	27542224
MIRT732025	hsa-miR-221-3p	Luciferase reporter assay, qRT-PCR, Western blot	27542224
MIRT734966	hsa-miR-210-3p	Microarray	33157942
MIRT766766	hsa-miR-101	CLIP-seq
MIRT766767	hsa-miR-142-5p	CLIP-seq
MIRT766768	hsa-miR-144	CLIP-seq
MIRT766769	hsa-miR-3174	CLIP-seq
MIRT766770	hsa-miR-4501	CLIP-seq
MIRT766771	hsa-miR-548a-5p	CLIP-seq
MIRT766772	hsa-miR-548ab	CLIP-seq
MIRT766773	hsa-miR-548ak	CLIP-seq
MIRT766774	hsa-miR-548b-5p	CLIP-seq
MIRT766775	hsa-miR-548c-5p	CLIP-seq
MIRT766776	hsa-miR-548d-5p	CLIP-seq
MIRT766777	hsa-miR-548h	CLIP-seq
MIRT766778	hsa-miR-548i	CLIP-seq
MIRT766779	hsa-miR-548j	CLIP-seq
MIRT766780	hsa-miR-548k	CLIP-seq
MIRT766781	hsa-miR-548l	CLIP-seq
MIRT766782	hsa-miR-548w	CLIP-seq
MIRT766783	hsa-miR-548y	CLIP-seq
MIRT766784	hsa-miR-559	CLIP-seq
MIRT766785	hsa-miR-577	CLIP-seq
MIRT766786	hsa-miR-921	CLIP-seq
MIRT1925882	hsa-miR-302f	CLIP-seq
MIRT1925883	hsa-miR-4521	CLIP-seq
MIRT1925884	hsa-miR-4659a-5p	CLIP-seq
MIRT1925885	hsa-miR-4659b-5p	CLIP-seq
MIRT1925886	hsa-miR-4753-3p	CLIP-seq
MIRT1925887	hsa-miR-4776-3p	CLIP-seq
MIRT1925888	hsa-miR-759	CLIP-seq
MIRT2167257	hsa-miR-298	CLIP-seq
MIRT2167258	hsa-miR-4450	CLIP-seq
MIRT1925883	hsa-miR-4521	CLIP-seq
MIRT2167259	hsa-miR-4693-3p	CLIP-seq
MIRT2167260	hsa-miR-4728-3p	CLIP-seq
MIRT2167261	hsa-miR-490-3p	CLIP-seq
MIRT2167262	hsa-miR-543	CLIP-seq
MIRT2167263	hsa-miR-570	CLIP-seq
MIRT1925888	hsa-miR-759	CLIP-seq
MIRT2383910	hsa-miR-1236	CLIP-seq
MIRT2383911	hsa-miR-1293	CLIP-seq
MIRT2383912	hsa-miR-326	CLIP-seq
MIRT2383913	hsa-miR-330-5p	CLIP-seq
MIRT2167258	hsa-miR-4450	CLIP-seq
MIRT2383914	hsa-miR-4483	CLIP-seq
MIRT1925883	hsa-miR-4521	CLIP-seq
MIRT1925886	hsa-miR-4753-3p	CLIP-seq
MIRT2383915	hsa-miR-760	CLIP-seq
MIRT2443164	hsa-miR-4749-3p	CLIP-seq
MIRT2469869	hsa-miR-29a	CLIP-seq
MIRT2469870	hsa-miR-29b	CLIP-seq
MIRT2469871	hsa-miR-29c	CLIP-seq
MIRT2469872	hsa-miR-3134	CLIP-seq
MIRT2469873	hsa-miR-3658	CLIP-seq
MIRT2469874	hsa-miR-3663-3p	CLIP-seq
MIRT2469875	hsa-miR-380	CLIP-seq
MIRT2469876	hsa-miR-4436b-3p	CLIP-seq
MIRT2469877	hsa-miR-4534	CLIP-seq
MIRT2469878	hsa-miR-4761-3p	CLIP-seq
MIRT2469879	hsa-miR-4795-3p	CLIP-seq
MIRT2469880	hsa-miR-651	CLIP-seq
MIRT2469881	hsa-miR-767-5p	CLIP-seq
MIRT2469876	hsa-miR-4436b-3p	CLIP-seq
MIRT2674504	hsa-miR-4651	CLIP-seq
MIRT2469878	hsa-miR-4761-3p	CLIP-seq
MIRT2469879	hsa-miR-4795-3p	CLIP-seq
MIRT2674505	hsa-miR-4797-5p	CLIP-seq
MIRT2674506	hsa-miR-548v	CLIP-seq
MIRT2674507	hsa-miR-608	CLIP-seq
MIRT2469880	hsa-miR-651	CLIP-seq

Gene ontology (GO) Show/Hide all (18)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001822	Process	Kidney development	IEA
GO:0003279	Process	Cardiac septum development	IEA
GO:0004222	Function	Metalloendopeptidase activity	IBA
GO:0004222	Function	Metalloendopeptidase activity	IEA
GO:0005576	Component	Extracellular region	IEA
GO:0006508	Process	Proteolysis	IBA
GO:0006508	Process	Proteolysis	IEA
GO:0007507	Process	Heart development	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0008237	Function	Metallopeptidase activity	IEA
GO:0008237	Function	Metallopeptidase activity	TAS	10464288
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:0035904	Process	Aorta development	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0060976	Process	Coronary vasculature development	IEA

Other IDs

• MIM: 605008
• HGNC: 222
• e!Ensembl: ENSG00000049192

Protein

• UniProt ID: Q9UKP5
• Protein name: A disintegrin and metalloproteinase with thrombospondin motifs 6 (ADAM-TS 6) (ADAM-TS6) (ADAMTS-6) (EC 3.4.24.-)
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01421	Reprolysin	250 → 468	Reprolysin (M12B) family zinc metalloprotease	Domain
  PF01562	Pep_M12B_propep	43 → 191	Reprolysin family propeptide	Family
  PF05986	ADAM_spacer1	717 → 829	ADAM-TS Spacer 1	Family
  PF08686	PLAC	1083 → 1115	PLAC (protease and lacunin) domain	Domain
  PF17771	ADAM_CR_2	480 → 548	ADAM cysteine-rich domain	Domain
  PF19030	TSP1_ADAMTS	903 → 959		Domain
  PF19030	TSP1_ADAMTS	844 → 899		Domain
  PF19030	TSP1_ADAMTS	963 → 1017		Domain
  PF19030	TSP1_ADAMTS	1022 → 1072		Domain
  PF00090	TSP_1	562 → 612	Thrombospondin type 1 domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed at low levels in placenta and barely detectable in a number of other tissues.
• Sequence:

  MEILWKTLTWILSLIMASSEFHSDHRLSYSSQEEFLTYLEHYQLTIPIRVDQNGAFLSFT
  VKNDKHSRRRRSMDPIDPQQAVSKLFFKLSAYGKHFHLNLTLNTDFVSKHFTVEYWGKDG
  PQWKHDFLDNCHYTGYLQDQRSTTKVALSNCVGLHGVIATEDEEYFIEPLKNTTEDSKHF
  SYENGHPHVIYKKSALQQRHLYDHSHCGVSDFTRSGKPWWLNDTSTVSYSLPINNTHIHH
  RQKRSVSIERFVETLVVADKMMVGYHGRKDIEHYILSVMNIVAKLYRDSSLGNVVNIIVA
  RLIVLTEDQPNLEINHHADKSLDSFCKWQKSILSHQSDGNTIPENGIAHHDNAVLITRYD
  ICTYKNKPCGTLGLASVAGMCEPERSCSINEDIGLGSAFTIAHEIGHNFGMNHDGIGNSC
  GTKGHEAAKLMAAHITANTNPFSWSACSRDYITSFLDSGRGTCLDNEPPKRDFLYPAVAP
  GQVYDADEQCRFQYGATSRQCKYGEVCRELWCLSKSNRCVTNSIPAAEGTLCQTGNIEKG
  WCYQGDCVPFGTWPQSIDGGWGPWSLWGECSRTCGGGVSSSLRHCDSPAPSGGGKYCLGE
  RKRYRSCNTDPCPLGSRDFREKQCADFDNMPFRGKYYNWKPYTGGGVKPCALNCLAEGYN
  FYTERAPAVIDGTQCNADSLDICINGECKHVGCDNILGSDAREDRCRVCGGDGSTCDAIE
  GFFNDSLPRGGYMEVVQIPRGSVHIEVREVAMSKNYIALKSEGDDYYINGAWTIDWPRKF
  DVAGTAFHYKRPTDEPESLEALGPTSENLIVMVLLQEQNLGIRYKFNVPITRTGSGDNEV
  GFTWNHQPWSECSATCAGGVQRQEVVCKRLDDNSIVQNNYCDPDSKPPENQRACNTEPCP
  PEWFIGDWLECSKTCDGGMRTRAVLCIRKIGPSEEETLDYSGCLTHRPVEKEPCNNQSCP
  PQWVALDWSECTPKCGPGFKHRIVLCKSSDLSKTFPAAQCPEESKPPVRIRCSLGRCPPP
  RWVTGDWGQCSAQCGLGQQMRTVQCLSYTGQASSDCLETVRPPSMQQCESKCDSTPISNT
  EECKDVNKVAYCPLVLKFKFCSRAYFRQMCCKTCQGH

• Sequence length: 1117

Pathways

Reactome Pathway

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
Premature ovarian failure	Likely pathogenic	rs1272612301	RCV001270200	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations Show/Hide Unknown Diseases (16)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
ADAMTS6-related disorder	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA	—	GWAS catalog	39245941	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	20889312	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	30801121	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GILLES DE LA TOURETTE SYNDROME	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KERATOCONUS	—	GWAS catalog	23291589	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	27622933	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL OR BEHAVIOURAL DISORDER	—	GWAS catalog	20889312	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOOD DISORDER	—	GWAS catalog	27622933	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	37386247	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOSARCOMA	—	GWAS catalog	23727862	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN FAILURE, PREMATURE	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	20889312, 23212062	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	30019117	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOURETTE SYNDROME	—	GWAS catalog	28472652	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	34862199	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (17)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Breast Carcinoma	Breast Carcinoma	BEFREE	27542224		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	27542224	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	27542224	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	29568882	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	39940703	Inhibit	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	25250687		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	GWASCAT_DG	27622933		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of breast	Breast Cancer	BEFREE	27542224		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	27542224, 29475036		★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	GWASCAT_DG	27622933		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	27542224, 29475036		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	GWASDB_DG	23727862		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteosarcoma	Osteosarcoma	GWASCAT_DG	23727862		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	34389782	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	29475036		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	33851708	Associate	★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	GWASCAT_DG	27622933		★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

LCN12 2 shared diseasesTourette syndrome, Keratoconus 2 shared evidence sourcesDisgenet (Tourette syndrome), GWAS catalog (Keratoconus) Related via 2 shared diseases including Tourette syndrome, Keratoconus — evidence mostly Disgenet. THSD7A 2 shared diseasesMood disorder, Tourette syndrome 2 shared pathwaysDefective B3GALTL causes Peters-plus syndrome (PpS), O-glycosylation of TSR domain-containing proteins 2 shared evidence sourcesGWAS catalog (Mood disorder), GWAS catalog (Tourette syndrome) Related via 2 shared diseases including Mood disorder, Tourette syndrome — evidence mostly GWAS catalog. RICTOR 2 shared diseasesTourette syndrome, Premature ovarian failure 2 shared evidence sourcesDisgenet (Tourette syndrome), Disgenet (Premature ovarian failure) Related via 2 shared diseases including Tourette syndrome, Premature ovarian failure — evidence mostly Disgenet. BAIAP2 2 shared diseasesMood disorder, Tourette syndrome 2 shared evidence sourcesDisgenet (Tourette syndrome), GWAS catalog (Mood disorder) Related via 2 shared diseases including Mood disorder, Tourette syndrome — evidence mostly Disgenet. ADAMTS17 1 shared diseaseOsteosarcoma 2 shared pathwaysDefective B3GALTL causes Peters-plus syndrome (PpS), O-glycosylation of TSR domain-containing proteins 1 shared evidence sourceGWAS catalog (Osteosarcoma) Related via 2 shared pathways including Defective B3GALTL causes Peters-plus syndrome (PpS), O-glycosylation of TSR domain-containing proteins — evidence mostly GWAS catalog.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
LCN12	2	["Tourette syndrome","Keratoconus"]	0	[]	2	["Disgenet (Tourette syndrome)","GWAS catalog (Keratoconus)"]
THSD7A	2	["Mood disorder","Tourette syndrome"]	2	["Defective B3GALTL causes Peters-plus syndrome (PpS)","O-glycosylation of TSR domain-containing proteins"]	2	["GWAS catalog (Mood disorder)","GWAS catalog (Tourette syndrome)"]
RICTOR	2	["Tourette syndrome","Premature ovarian failure"]	0	[]	2	["Disgenet (Tourette syndrome)","Disgenet (Premature ovarian failure)"]
BAIAP2	2	["Mood disorder","Tourette syndrome"]	0	[]	2	["Disgenet (Tourette syndrome)","GWAS catalog (Mood disorder)"]
ADAMTS17	1	["Osteosarcoma"]	2	["Defective B3GALTL causes Peters-plus syndrome (PpS)","O-glycosylation of TSR domain-containing proteins"]	1	["GWAS catalog (Osteosarcoma)"]

Diseases Linked via Similar Genes

Central nervous system cancer Linked via 2 of 5 related genesTHSD7A, RICTOR Colorectal cancer Linked via 2 of 5 related genesTHSD7A, ADAMTS17 Gastroesophageal reflux disease Linked via 2 of 5 related genesTHSD7A, ADAMTS17 Glioblastoma Linked via 2 of 5 related genesTHSD7A, RICTOR Glioma Linked via 2 of 5 related genesTHSD7A, RICTOR

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Central nervous system cancer	2	["THSD7A","RICTOR"]
Colorectal cancer	2	["THSD7A","ADAMTS17"]
Gastroesophageal reflux disease	2	["THSD7A","ADAMTS17"]
Glioblastoma	2	["THSD7A","RICTOR"]
Glioma	2	["THSD7A","RICTOR"]