ADAMTS19 (ADAM metallopeptidase with thrombospondin type 1 motif 19)

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

Gene

• Entrez ID: 171019
• Gene name: ADAM metallopeptidase with thrombospondin type 1 motif 19
• Gene symbol: ADAMTS19
• Synonyms (NCBI Gene): CVDP2
• Chromosome: 5
• Chromosome location: 5q23.3
• Summary: This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin

miRNA Show/Hide all (159)

miRTarBase ID	miRNA	Experiments	Reference
MIRT766516	hsa-miR-103a	CLIP-seq
MIRT766517	hsa-miR-107	CLIP-seq
MIRT766518	hsa-miR-1184	CLIP-seq
MIRT766519	hsa-miR-1197	CLIP-seq
MIRT766520	hsa-miR-1205	CLIP-seq
MIRT766521	hsa-miR-1206	CLIP-seq
MIRT766522	hsa-miR-1244	CLIP-seq
MIRT766523	hsa-miR-125a-3p	CLIP-seq
MIRT766524	hsa-miR-1261	CLIP-seq
MIRT766525	hsa-miR-1286	CLIP-seq
MIRT766526	hsa-miR-129-3p	CLIP-seq
MIRT766527	hsa-miR-1297	CLIP-seq
MIRT766528	hsa-miR-1299	CLIP-seq
MIRT766529	hsa-miR-1303	CLIP-seq
MIRT766530	hsa-miR-154	CLIP-seq
MIRT766531	hsa-miR-181a	CLIP-seq
MIRT766532	hsa-miR-181b	CLIP-seq
MIRT766533	hsa-miR-181c	CLIP-seq
MIRT766534	hsa-miR-181d	CLIP-seq
MIRT766535	hsa-miR-185	CLIP-seq
MIRT766536	hsa-miR-1976	CLIP-seq
MIRT766537	hsa-miR-214	CLIP-seq
MIRT766538	hsa-miR-224	CLIP-seq
MIRT766539	hsa-miR-26a	CLIP-seq
MIRT766540	hsa-miR-26b	CLIP-seq
MIRT766541	hsa-miR-29a	CLIP-seq
MIRT766542	hsa-miR-29b	CLIP-seq
MIRT766543	hsa-miR-29c	CLIP-seq
MIRT766544	hsa-miR-3120-3p	CLIP-seq
MIRT766545	hsa-miR-3146	CLIP-seq
MIRT766546	hsa-miR-3150a-3p	CLIP-seq
MIRT766547	hsa-miR-3158-5p	CLIP-seq
MIRT766548	hsa-miR-3160-5p	CLIP-seq
MIRT766549	hsa-miR-3175	CLIP-seq
MIRT766550	hsa-miR-3613-3p	CLIP-seq
MIRT766551	hsa-miR-3619-5p	CLIP-seq
MIRT766552	hsa-miR-3651	CLIP-seq
MIRT766553	hsa-miR-3665	CLIP-seq
MIRT766554	hsa-miR-374a	CLIP-seq
MIRT766555	hsa-miR-374b	CLIP-seq
MIRT766556	hsa-miR-384	CLIP-seq
MIRT766557	hsa-miR-3929	CLIP-seq
MIRT766558	hsa-miR-3941	CLIP-seq
MIRT766559	hsa-miR-4251	CLIP-seq
MIRT766560	hsa-miR-4262	CLIP-seq
MIRT766561	hsa-miR-4306	CLIP-seq
MIRT766562	hsa-miR-4326	CLIP-seq
MIRT766563	hsa-miR-433	CLIP-seq
MIRT766564	hsa-miR-4419b	CLIP-seq
MIRT766565	hsa-miR-4436a	CLIP-seq
MIRT766566	hsa-miR-4465	CLIP-seq
MIRT766567	hsa-miR-4478	CLIP-seq
MIRT766568	hsa-miR-4639-5p	CLIP-seq
MIRT766569	hsa-miR-4643	CLIP-seq
MIRT766570	hsa-miR-4644	CLIP-seq
MIRT766571	hsa-miR-4652-3p	CLIP-seq
MIRT766572	hsa-miR-466	CLIP-seq
MIRT766573	hsa-miR-4666-5p	CLIP-seq
MIRT766574	hsa-miR-4668-5p	CLIP-seq
MIRT766575	hsa-miR-4672	CLIP-seq
MIRT766576	hsa-miR-4676-5p	CLIP-seq
MIRT766577	hsa-miR-4687-5p	CLIP-seq
MIRT766578	hsa-miR-4760-3p	CLIP-seq
MIRT766579	hsa-miR-4782-5p	CLIP-seq
MIRT766580	hsa-miR-4789-3p	CLIP-seq
MIRT766581	hsa-miR-491-5p	CLIP-seq
MIRT766582	hsa-miR-502-5p	CLIP-seq
MIRT766583	hsa-miR-516b	CLIP-seq
MIRT766584	hsa-miR-539	CLIP-seq
MIRT766585	hsa-miR-541	CLIP-seq
MIRT766586	hsa-miR-542-3p	CLIP-seq
MIRT766587	hsa-miR-544	CLIP-seq
MIRT766588	hsa-miR-575	CLIP-seq
MIRT766589	hsa-miR-654-5p	CLIP-seq
MIRT766590	hsa-miR-657	CLIP-seq
MIRT766591	hsa-miR-761	CLIP-seq
MIRT766592	hsa-miR-922	CLIP-seq
MIRT766593	hsa-miR-939	CLIP-seq
MIRT766522	hsa-miR-1244	CLIP-seq
MIRT766524	hsa-miR-1261	CLIP-seq
MIRT766528	hsa-miR-1299	CLIP-seq
MIRT766529	hsa-miR-1303	CLIP-seq
MIRT766531	hsa-miR-181a	CLIP-seq
MIRT766532	hsa-miR-181b	CLIP-seq
MIRT766533	hsa-miR-181c	CLIP-seq
MIRT766534	hsa-miR-181d	CLIP-seq
MIRT766535	hsa-miR-185	CLIP-seq
MIRT766538	hsa-miR-224	CLIP-seq
MIRT766541	hsa-miR-29a	CLIP-seq
MIRT766542	hsa-miR-29b	CLIP-seq
MIRT766543	hsa-miR-29c	CLIP-seq
MIRT1925815	hsa-miR-302f	CLIP-seq
MIRT1925816	hsa-miR-3119	CLIP-seq
MIRT1925817	hsa-miR-3140-3p	CLIP-seq
MIRT766545	hsa-miR-3146	CLIP-seq
MIRT766546	hsa-miR-3150a-3p	CLIP-seq
MIRT766549	hsa-miR-3175	CLIP-seq
MIRT1925818	hsa-miR-320e	CLIP-seq
MIRT1925819	hsa-miR-335	CLIP-seq
MIRT1925820	hsa-miR-369-3p	CLIP-seq
MIRT1925821	hsa-miR-421	CLIP-seq
MIRT766560	hsa-miR-4262	CLIP-seq
MIRT1925822	hsa-miR-4282	CLIP-seq
MIRT766561	hsa-miR-4306	CLIP-seq
MIRT1925823	hsa-miR-4480	CLIP-seq
MIRT1925824	hsa-miR-4503	CLIP-seq
MIRT766568	hsa-miR-4639-5p	CLIP-seq
MIRT766570	hsa-miR-4644	CLIP-seq
MIRT766572	hsa-miR-466	CLIP-seq
MIRT766576	hsa-miR-4676-5p	CLIP-seq
MIRT1925825	hsa-miR-4679	CLIP-seq
MIRT1925826	hsa-miR-4698	CLIP-seq
MIRT1925827	hsa-miR-4709-5p	CLIP-seq
MIRT766578	hsa-miR-4760-3p	CLIP-seq
MIRT1925828	hsa-miR-4764-5p	CLIP-seq
MIRT1925829	hsa-miR-4768-5p	CLIP-seq
MIRT766579	hsa-miR-4782-5p	CLIP-seq
MIRT766581	hsa-miR-491-5p	CLIP-seq
MIRT766583	hsa-miR-516b	CLIP-seq
MIRT766585	hsa-miR-541	CLIP-seq
MIRT1925830	hsa-miR-548ac	CLIP-seq
MIRT1925831	hsa-miR-548ae	CLIP-seq
MIRT1925832	hsa-miR-548aj	CLIP-seq
MIRT1925833	hsa-miR-548am	CLIP-seq
MIRT1925834	hsa-miR-548d-3p	CLIP-seq
MIRT1925835	hsa-miR-548x	CLIP-seq
MIRT1925836	hsa-miR-548z	CLIP-seq
MIRT766588	hsa-miR-575	CLIP-seq
MIRT1925837	hsa-miR-590-3p	CLIP-seq
MIRT1925838	hsa-miR-640	CLIP-seq
MIRT1925839	hsa-miR-649	CLIP-seq
MIRT766589	hsa-miR-654-5p	CLIP-seq
MIRT766593	hsa-miR-939	CLIP-seq
MIRT766521	hsa-miR-1206	CLIP-seq
MIRT766522	hsa-miR-1244	CLIP-seq
MIRT766524	hsa-miR-1261	CLIP-seq
MIRT766528	hsa-miR-1299	CLIP-seq
MIRT766531	hsa-miR-181a	CLIP-seq
MIRT766532	hsa-miR-181b	CLIP-seq
MIRT766533	hsa-miR-181c	CLIP-seq
MIRT766534	hsa-miR-181d	CLIP-seq
MIRT766538	hsa-miR-224	CLIP-seq
MIRT2167197	hsa-miR-3680	CLIP-seq
MIRT2167198	hsa-miR-3973	CLIP-seq
MIRT766560	hsa-miR-4262	CLIP-seq
MIRT766563	hsa-miR-433	CLIP-seq
MIRT2167199	hsa-miR-4426	CLIP-seq
MIRT2167200	hsa-miR-4647	CLIP-seq
MIRT2167201	hsa-miR-4662b	CLIP-seq
MIRT766576	hsa-miR-4676-5p	CLIP-seq
MIRT1925826	hsa-miR-4698	CLIP-seq
MIRT766579	hsa-miR-4782-5p	CLIP-seq
MIRT2167202	hsa-miR-4798-3p	CLIP-seq
MIRT766583	hsa-miR-516b	CLIP-seq
MIRT2167203	hsa-miR-520g	CLIP-seq
MIRT2167204	hsa-miR-520h	CLIP-seq
MIRT766588	hsa-miR-575	CLIP-seq
MIRT2167205	hsa-miR-599	CLIP-seq
MIRT766521	hsa-miR-1206	CLIP-seq

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

GO ID	Ontology	Definition	Evidence	Reference
GO:0003180	Process	Aortic valve morphogenesis	IMP	31844321, 32323311
GO:0003183	Process	Mitral valve morphogenesis	IMP	31844321
GO:0003184	Process	Pulmonary valve morphogenesis	IMP	32323311
GO:0003186	Process	Tricuspid valve morphogenesis	IMP	32323311
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: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:0030199	Process	Collagen fibril organization	ISS	31844321
GO:0031012	Component	Extracellular matrix	IBA
GO:0046872	Function	Metal ion binding	IEA
GO:0060412	Process	Ventricular septum morphogenesis	IMP	32323311

Other IDs

• MIM: 607513
• HGNC: 17111
• e!Ensembl: ENSG00000145808

Protein

• UniProt ID: Q8TE59
• Protein name: A disintegrin and metalloproteinase with thrombospondin motifs 19 (ADAM-TS 19) (ADAM-TS19) (ADAMTS-19) (EC 3.4.24.-)
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01421	Reprolysin	325 → 546	Reprolysin (M12B) family zinc metalloprotease	Domain
  PF01562	Pep_M12B_propep	146 → 273	Reprolysin family propeptide	Family
  PF05986	ADAM_spacer1	790 → 900	ADAM-TS Spacer 1	Family
  PF17771	ADAM_CR_2	559 → 626	ADAM cysteine-rich domain	Domain
  PF19030	TSP1_ADAMTS	1091 → 1143		Domain
  PF19030	TSP1_ADAMTS	980 → 1036		Domain
  PF19030	TSP1_ADAMTS	919 → 976		Domain
  PF19030	TSP1_ADAMTS	1040 → 1088		Domain
  PF00090	TSP_1	637 → 685	Thrombospondin type 1 domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in fetal lung, but not in any adult tissues examined. Expression was detected in an osteosarcoma cDNA library.
• Sequence:

  MRLTHICCCCLLYQLGFLSNGIVSELQFAPDREEWEVVFPALWRREPVDPAGGSGGSADP
  GWVRGVGGGGSARAQAAGSSREVRSVAPVPLEEPVEGRSESRLRPPPPSEGEEDEELESQ
  ELPRGSSGAAALSPGAPASWQPPPPPQPPPSPPPAQHAEPDGDEVLLRIPAFSRDLYLLL
  RRDGRFLAPRFAVEQRPNPGPGPTGAASAPQPPAPPDAGCFYTGAVLRHPGSLASFSTCG
  GGLMGFIQLNEDFIFIEPLNDTMAITGHPHRVYRQKRSMEEKVTEKSALHSHYCGIISDK
  GRPRSRKIAESGRGKRYSYKLPQEYNIETVVVADPAMVSYHGADAARRFILTILNMVFNL
  FQHKSLSVQVNLRVIKLILLHETPPELYIGHHGEKMLESFCKWQHEEFGKKNDIHLEMST
  NWGEDMTSVDAAILITRKDFCVHKDEPCDTVGIAYLSGMCSEKRKCIIAEDNGLNLAFTI
  AHEMGHNMGINHDNDHPSCADGLHIMSGEWIKGQNLGDVSWSRCSKEDLERFLRSKASNC
  LLQTNPQSVNSVMVPSKLPGMTYTADEQCQILFGPLASFCQEMQHVICTGLWCKVEGEKE
  CRTKLDPPMDGTDCDLGKWCKAGECTSRTSAPEHLAGEWSLWSPCSRTCSAGISSRERKC
  PGLDSEARDCNGPRKQYRICENPPCPAGLPGFRDWQCQAYSVRTSSPKHILQWQAVLDEE
  KPCALFCSPVGKEQPILLSEKVMDGTSCGYQGLDICANGRCQKVGCDGLLGSLAREDHCG
  VCNGNGKSCKIIKGDFNHTRGAGYVEVLVIPAGARRIKVVEEKPAHSYLALRDAGKQSIN
  SDWKIEHSGAFNLAGTTVHYVRRGLWEKISAKGPTTAPLHLLVLLFQDQNYGLHYEYTIP
  SDPLPENQSSKAPEPLFMWTHTSWEDCDATCGGGERKTTVSCTKIMSKNISIVDNEKCKY
  LTKPEPQIRKCNEQPCQTRWMMTEWTPCSRTCGKGMQSRQVACTQQLSNGTLIRARERDC
  IGPKPASAQRCEGQDCMTVWEAGVWSECSVKCGKGIRHRTVRCTNPRKKCVLSTRPREAE
  DCEDYSKCYVWRMGDWSKCSITCGKGMQSRVIQCMHKITGRHGNECFSSEKPAAYRPCHL
  QPCNEKINVNTITSPRLAALTFKCLGDQWPVYCRVIREKNLCQDMRWYQRCCETCRDFYA
  QKLQQKS

• Sequence length: 1207

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
ADAMTS19-related disorder	Likely pathogenic	rs780852099	RCV003899744	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cardiac valvular dysplasia 2	Pathogenic	rs772148624, rs1269062522, rs780595297	RCV002286544 RCV002286545 RCV002286547	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations Show/Hide Unknown Diseases (11)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
ADAMTS19-associated congenital heartdefect	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	34099189	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HEART DEFECTS	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HEART DISEASE	—	ClinGen, Disgenet, GWAS catalog ClinGen, Disgenet, GWAS catalog	31844321, 32323311	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART VALVE DISEASE	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART VALVE DISEASES	—	CTD	31844321	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART VALVE PROLAPSE	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	34099189	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	39024449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	34099189	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	30019117	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (13)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	22837378		★☆☆☆☆ Found in Text Mining only
Heart valve disease	Cardiac valvular disease	BEFREE	31844321		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Duchenne	Duchenne muscular dystrophy	Pubtator	36935420	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Failure, Premature	Ovarian Failure	GWASDB_DG	19508998		★☆☆☆☆ Found in Text Mining only
Ovarian Failure, Premature	Ovarian Failure	BEFREE	19508998, 24014609, 25051287, 25989972, 29982260		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	40317721	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	29982260		★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	BEFREE	19508998, 24014609, 25051287, 25989972, 29982260		★☆☆☆☆ Found in Text Mining only
Psychosexual dysfunction	Psychosexual Dysfunction	GWASCAT_DG	22445761		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	34716291	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sexual Dysfunction	Sexual Dysfunction	GWASCAT_DG	22445761		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	33921267	Inhibit	★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

ADAMTSL2 2 shared diseasesHeart valve disease, Heart valve prolapse 2 shared pathwaysDefective B3GALTL causes Peters-plus syndrome (PpS), O-glycosylation of TSR domain-containing proteins 3 shared evidence sourcesDisgenet (Heart valve disease), CTD (Heart valve disease), Disgenet (Heart valve prolapse) Related via 2 shared diseases including Heart valve disease, Heart valve prolapse — evidence mostly Disgenet. CCL15 2 shared diseasesHeart valve disease, Heart valve prolapse 2 shared evidence sourcesDisgenet (Heart valve disease), Disgenet (Heart valve prolapse) Related via 2 shared diseases including Heart valve disease, Heart valve prolapse — evidence mostly Disgenet. SPN 2 shared diseasesHeart valve disease, Heart valve prolapse 3 shared evidence sourcesDisgenet (Heart valve disease), CTD (Heart valve disease), Disgenet (Heart valve prolapse) Related via 2 shared diseases including Heart valve disease, Heart valve prolapse — evidence mostly Disgenet. SPON2 2 shared pathwaysDefective B3GALTL causes Peters-plus syndrome (PpS), O-glycosylation of TSR domain-containing proteins Related via 2 shared pathways including Defective B3GALTL causes Peters-plus syndrome (PpS), O-glycosylation of TSR domain-containing proteins. SPON1 2 shared pathwaysDefective B3GALTL causes Peters-plus syndrome (PpS), O-glycosylation of TSR domain-containing proteins Related via 2 shared pathways including Defective B3GALTL causes Peters-plus syndrome (PpS), O-glycosylation of TSR domain-containing proteins.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
ADAMTSL2	2	["Heart valve disease","Heart valve prolapse"]	2	["Defective B3GALTL causes Peters-plus syndrome (PpS)","O-glycosylation of TSR domain-containing proteins"]	3	["Disgenet (Heart valve disease)","CTD (Heart valve disease)","Disgenet (Heart valve prolapse)"]
CCL15	2	["Heart valve disease","Heart valve prolapse"]	0	[]	2	["Disgenet (Heart valve disease)","Disgenet (Heart valve prolapse)"]
SPN	2	["Heart valve disease","Heart valve prolapse"]	0	[]	3	["Disgenet (Heart valve disease)","CTD (Heart valve disease)","Disgenet (Heart valve prolapse)"]
SPON2	0	[]	2	["Defective B3GALTL causes Peters-plus syndrome (PpS)","O-glycosylation of TSR domain-containing proteins"]	0	[]
SPON1	0	[]	2	["Defective B3GALTL causes Peters-plus syndrome (PpS)","O-glycosylation of TSR domain-containing proteins"]	0	[]

Diseases Linked via Similar Genes

Carpal tunnel syndrome Linked via 1 of 5 related genesADAMTSL2 Congenital cartilage disorder Linked via 1 of 5 related genesADAMTSL2 Congenital hand deformities Linked via 1 of 5 related genesADAMTSL2 Contracture Linked via 1 of 5 related genesADAMTSL2 Dermatosparaxis ehlers-danlos syndrome Linked via 1 of 5 related genesADAMTSL2

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Carpal tunnel syndrome	1	["ADAMTSL2"]
Congenital cartilage disorder	1	["ADAMTSL2"]
Congenital hand deformities	1	["ADAMTSL2"]
Contracture	1	["ADAMTSL2"]
Dermatosparaxis ehlers-danlos syndrome	1	["ADAMTSL2"]