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	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

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Show/Hide all (159)

miRTarBase ID	miRNA	Experiments
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

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

MIM	HGNC	e!Ensembl
607513	17111	ENSG00000145808

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

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 (2)

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

Show/Hide Unknown Diseases (11)

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.
ADAMTS19-associated congenital heartdefect	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ 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	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART VALVE DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART VALVE DISEASES	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART VALVE PROLAPSE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ 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

Show/Hide Text Mining Associations (13)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
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	BEFREE	19508998, 24014609, 25051287, 25989972, 29982260		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Failure, Premature	Ovarian Failure	GWASDB_DG	19508998		★★★★★ ★☆☆☆☆ 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

ADAMTS19 (ADAM metallopeptidase with thrombospondin type 1 motif 19)