ADAMTS8 (ADAM metallopeptidase with thrombospondin type 1 motif 8)

Gene

• Entrez ID: 11095
• Gene name: ADAM metallopeptidase with thrombospondin type 1 motif 8
• Gene symbol: ADAMTS8
• Synonyms (NCBI Gene): ADAM-TS8, METH2
• Chromosome: 11
• Chromosome location: 11q24.3
• 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

miRTarBase ID	miRNA	Experiments	Reference
MIRT650020	hsa-miR-4729	HITS-CLIP	23824327
MIRT650019	hsa-miR-5696	HITS-CLIP	23824327
MIRT650018	hsa-miR-579-3p	HITS-CLIP	23824327
MIRT650017	hsa-miR-664b-3p	HITS-CLIP	23824327
MIRT650016	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT495330	hsa-miR-4475	PAR-CLIP	22291592
MIRT495328	hsa-miR-190a-5p	PAR-CLIP	22291592
MIRT495327	hsa-miR-190b	PAR-CLIP	22291592
MIRT495326	hsa-miR-4312	PAR-CLIP	22291592
MIRT495325	hsa-miR-6882-3p	PAR-CLIP	22291592
MIRT495324	hsa-miR-3926	PAR-CLIP	22291592
MIRT495323	hsa-miR-548s	PAR-CLIP	22291592
MIRT495330	hsa-miR-4475	PAR-CLIP	23708386
MIRT495328	hsa-miR-190a-5p	PAR-CLIP	23708386
MIRT495327	hsa-miR-190b	PAR-CLIP	23708386
MIRT495326	hsa-miR-4312	PAR-CLIP	23708386
MIRT495325	hsa-miR-6882-3p	PAR-CLIP	23708386
MIRT495324	hsa-miR-3926	PAR-CLIP	23708386
MIRT495323	hsa-miR-548s	PAR-CLIP	23708386
MIRT650020	hsa-miR-4729	HITS-CLIP	23824327
MIRT650019	hsa-miR-5696	HITS-CLIP	23824327
MIRT650018	hsa-miR-579-3p	HITS-CLIP	23824327
MIRT650017	hsa-miR-664b-3p	HITS-CLIP	23824327
MIRT650016	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT495330	hsa-miR-4475	PAR-CLIP	22291592
MIRT495328	hsa-miR-190a-5p	PAR-CLIP	22291592
MIRT495327	hsa-miR-190b	PAR-CLIP	22291592
MIRT495326	hsa-miR-4312	PAR-CLIP	22291592
MIRT495325	hsa-miR-6882-3p	PAR-CLIP	22291592
MIRT495324	hsa-miR-3926	PAR-CLIP	22291592
MIRT495323	hsa-miR-548s	PAR-CLIP	22291592
MIRT495330	hsa-miR-4475	PAR-CLIP	23708386
MIRT495328	hsa-miR-190a-5p	PAR-CLIP	23708386
MIRT495327	hsa-miR-190b	PAR-CLIP	23708386
MIRT495326	hsa-miR-4312	PAR-CLIP	23708386
MIRT495325	hsa-miR-6882-3p	PAR-CLIP	23708386
MIRT495324	hsa-miR-3926	PAR-CLIP	23708386
MIRT495323	hsa-miR-548s	PAR-CLIP	23708386
MIRT766792	hsa-miR-181a	CLIP-seq
MIRT766793	hsa-miR-181b	CLIP-seq
MIRT766794	hsa-miR-181c	CLIP-seq
MIRT766795	hsa-miR-181d	CLIP-seq
MIRT766796	hsa-miR-197	CLIP-seq
MIRT766797	hsa-miR-4262	CLIP-seq
MIRT766798	hsa-miR-489	CLIP-seq
MIRT766799	hsa-miR-514	CLIP-seq
MIRT766800	hsa-miR-514b-3p	CLIP-seq
MIRT766801	hsa-miR-596	CLIP-seq
MIRT766792	hsa-miR-181a	CLIP-seq
MIRT766793	hsa-miR-181b	CLIP-seq
MIRT766794	hsa-miR-181c	CLIP-seq
MIRT766795	hsa-miR-181d	CLIP-seq
MIRT766796	hsa-miR-197	CLIP-seq
MIRT766797	hsa-miR-4262	CLIP-seq
MIRT1925889	hsa-miR-4540	CLIP-seq
MIRT766798	hsa-miR-489	CLIP-seq
MIRT766799	hsa-miR-514	CLIP-seq
MIRT766800	hsa-miR-514b-3p	CLIP-seq
MIRT1925890	hsa-miR-554	CLIP-seq
MIRT766801	hsa-miR-596	CLIP-seq
MIRT766792	hsa-miR-181a	CLIP-seq
MIRT766793	hsa-miR-181b	CLIP-seq
MIRT766794	hsa-miR-181c	CLIP-seq
MIRT766795	hsa-miR-181d	CLIP-seq
MIRT766796	hsa-miR-197	CLIP-seq
MIRT766797	hsa-miR-4262	CLIP-seq
MIRT766798	hsa-miR-489	CLIP-seq
MIRT766799	hsa-miR-514	CLIP-seq
MIRT766800	hsa-miR-514b-3p	CLIP-seq
MIRT766801	hsa-miR-596	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004222	Function	Metalloendopeptidase activity	IBA
GO:0004222	Function	Metalloendopeptidase activity	IEA
GO:0005178	Function	Integrin binding	TAS	10438512
GO:0005576	Component	Extracellular region	IEA
GO:0006508	Process	Proteolysis	IBA
GO:0006508	Process	Proteolysis	IEA
GO:0008201	Function	Heparin binding	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0008237	Function	Metallopeptidase activity	IEA
GO:0008237	Function	Metallopeptidase activity	TAS	10438512
GO:0008270	Function	Zinc ion binding	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	TAS	10438512
GO:0009673	Function	Low-affinity phosphate transmembrane transporter activity	TAS	10610729
GO:0015698	Process	Inorganic anion transport	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	ISS	22261194
GO:0046872	Function	Metal ion binding	IEA

Other IDs

• MIM: 605175
• HGNC: 224
• e!Ensembl: ENSG00000134917

Protein

• UniProt ID: Q9UP79
• Protein name: A disintegrin and metalloproteinase with thrombospondin motifs 8 (ADAM-TS 8) (ADAM-TS8) (ADAMTS-8) (EC 3.4.24.-) (METH-2) (METH-8)
• Protein function: Has anti-angiogenic properties.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01562	Pep_M12B_propep	29 → 150	Reprolysin family propeptide	Family
  PF01421	Reprolysin	219 → 429	Reprolysin (M12B) family zinc metalloprotease	Domain
  PF17771	ADAM_CR_2	440 → 513	ADAM cysteine-rich domain	Domain
  PF00090	TSP_1	530 → 580	Thrombospondin type 1 domain	Domain
  PF05986	ADAM_spacer1	690 → 809	ADAM-TS Spacer 1	Family
  PF19030	TSP1_ADAMTS	836 → 887		Domain

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in adult and fetal lung, lower expression in brain, placenta, heart, stomach and fetal brain and kidney.
• Sequence:

  MLPAPAAPRWPPLLLLLLLLLPLARGAPARPAAGGQASELVVPTRLPGSAGELALHLSAF
  GKGFVLRLAPDDSFLAPEFKIERLGGSGRATGGERGLRGCFFSGTVNGEPESLAAVSLCR
  GLSGSFLLDGEEFTIQPQGAGGSLAQPHRLQRWGPAGARPLPRGPEWEVETGEGQRQERG
  DHQEDSEEESQEEEAEGASEPPPPLGATSRTKRFVSEARFVETLLVADASMAAFYGADLQ
  NHILTLMSVAARIYKHPSIKNSINLMVVKVLIVEDEKWGPEVSDNGGLTLRNFCNWQRRF
  NQPSDRHPEHYDTAILLTRQNFCGQEGLCDTLGVADIGTICDPNKSCSVIEDEGLQAAHT
  LAHELGHVLSMPHDDSKPCTRLFGPMGKHHVMAPLFVHLNQTLPWSPCSAMYLTELLDGG
  HGDCLLDAPAAALPLPTGLPGRMALYQLDQQCRQIFGPDFRHCPNTSAQDVCAQLWCHTD
  GAEPLCHTKNGSLPWADGTPCGPGHLCSEGSCLPEEEVERPKPVADGGWAPWGPWGECSR
  TCGGGVQFSHRECKDPEPQNGGRYCLGRRAKYQSCHTEECPPDGKSFREQQCEKYNAYNY
  TDMDGNLLQWVPKYAGVSPRDRCKLFCRARGRSEFKVFEAKVIDGTLCGPETLAICVRGQ
  CVKAGCDHVVDSPRKLDKCGVCGGKGNSCRKVSGSLTPTNYGYNDIVTIPAGATNIDVKQ
  RSHPGVQNDGNYLALKTADGQYLLNGNLAISAIEQDILVKGTILKYSGSIATLERLQSFR
  PLPEPLTVQLLTVPGEVFPPKVKYTFFVPNDVDFSMQSSKERATTNIIQPLLHAQWVLGD
  WSECSSTCGAGWQRRTVECRDPSGQASATCNKALKPEDAKPCESQLCPL

• Sequence length: 889

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANEURYSM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AORTIC ANEURYSM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORNEAL ASTIGMATISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLAUCOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOBIUS SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oromandibular-limb hypogenesis spectrum	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	31473210	Inhibit	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	31473210		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	39293435	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	16570050		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	16570050	Inhibit	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	37587889	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	16152618		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinogenesis	Carcinogenesis	Pubtator	16570050	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	24184540		★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal Breast	Ductal carcinoma of breast	Pubtator	29860265	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	15328519, 28410204		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	29860265		★☆☆☆☆ Found in Text Mining only
Cartilage Diseases	Cartilage disease	Pubtator	18671975	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	24184540		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	36339449	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	31782329	Inhibit	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	24184540	Inhibit	★☆☆☆☆ Found in Text Mining only
Fibroadenoma	Fibroadenoma	BEFREE	29860265		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	16570050		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	37587889	Inhibit	★☆☆☆☆ Found in Text Mining only
Heart Failure, Right-Sided	Heart Failure	BEFREE	31556812		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	31556812		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	38203769	Inhibit	★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	BEFREE	31246245		★☆☆☆☆ Found in Text Mining only
Linear Scleroderma	Linear Scleroderma	BEFREE	30367460		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	11705860, 30464505		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	28410204	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	27493958	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	16152618		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	15328519, 28410204		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	11705860		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	29610475		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	27493958		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	16570050, 19172229, 23666970, 24184540		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	15328519, 25122424, 28410204		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	30655094	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis Hip	Osteoarthritis	Pubtator	30655094	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	11705860		★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary neoplasm	Pubtator	36686480	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	29610475		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	31556812		★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	34687701	Associate	★☆☆☆☆ Found in Text Mining only
Regular astigmatism - corneal	Corneal astigmatism	GWASCAT_DG	30306274		★☆☆☆☆ Found in Text Mining only
Right ventricular failure	Ventricular Failure	BEFREE	31556812		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	27493958		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	27493958	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	16135921	Stimulate	★☆☆☆☆ Found in Text Mining only