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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	11174
Gene name	ADAM metallopeptidase with thrombospondin type 1 motif 6
Gene symbol	ADAMTS6
Synonyms (NCBI Gene)	ADAM-TS 6ADAM-TS6ADAMTS-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

Show/Hide all (72)

miRTarBase ID	miRNA	Experiments	Reference
MIRT019293	hsa-miR-148b-3p	Microarray	17612493
MIRT732025	hsa-miR-221-3p	Luciferase reporter assayqRT-PCRWestern blot	27542224
MIRT732025	hsa-miR-221-3p	Luciferase reporter assayqRT-PCRWestern 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

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

MIM	HGNC	e!Ensembl
605008	222	ENSG00000049192

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

Interactions

View interactions

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

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)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Premature ovarian failure	Likely pathogenic	rs1272612301	RCV001270200	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (16)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ADAMTS6-related disorder	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GILLES DE LA TOURETTE SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KERATOCONUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL OR BEHAVIOURAL DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOOD DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOSARCOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN FAILURE, PREMATURE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOURETTE SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (17)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
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

ADAMTS6 (ADAM metallopeptidase with thrombospondin type 1 motif 6)