Gene Gene information from NCBI Gene database.
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 miRNA information provided by mirtarbase database.
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
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607513 17111 ENSG00000145808
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
GGLMGFIQLNEDFIFIEPLNDTMAITGHPHRVY
RQKRSMEEKVTEKSALHSHYCGIISDK
GRPRSRKIAESGRGKRYSYKLPQEYNIETVVVADPAMVSYHGADAARRFILTILNMVFNL
FQHKSLSVQVNLRVIKLILLHETPPELYIGHHGEKMLESFCKWQHEEFGKKNDIHLEMST
NWGEDMTSVDAAILITRKDFCVHKDEPCDTVGIAYLSGMCSEKRKCIIAEDNGLNLAFTI
AHEMGHNMGINHDNDHPSCADGLHIMSGEWIKGQNLGDVSWSRCSKEDLERFLRSKASNC
LLQTNP
QSVNSVMVPSKLPGMTYTADEQCQILFGPLASFCQEMQHVICTGLWCKVEGEKE
CRTKLDPPMDGTDCDLGKWCKAGECT
SRTSAPEHLAGEWSLWSPCSRTCSAGISSRERKC
PGLDSEARDCNGPRKQYRICENPPC
PAGLPGFRDWQCQAYSVRTSSPKHILQWQAVLDEE
KPCALFCSPVGKEQPILLSEKVMDGTSCGYQGLDICANGRCQKVGCDGLLGSLAREDHCG
VCNGNGKSCKIIKGDFNHTRGAGYVEVLVIPAGARRIKVVEEKPAHSYLALRDAGKQSIN
SDWKIEHSGAFNLAGTTVHYVRRGLWEKISAKGPTTAPLHLLVLLFQDQNYGLHYEYTIP

SDPLPENQSSKAPEPLFMWTHTSWEDCDATCGGGERKTTVSCTKIMSKNISIVDNEKCKY
LTKPEPQIRKCNEQPC
QTRWMMTEWTPCSRTCGKGMQSRQVACTQQLSNGTLIRARERDC
IGPKPASAQRCEGQDC
MTVWEAGVWSECSVKCGKGIRHRTVRCTNPRKKCVLSTRPREAE
DCEDYSKC
YVWRMGDWSKCSITCGKGMQSRVIQCMHKITGRHGNECFSSEKPAAYRPCHL
QPC
NEKINVNTITSPRLAALTFKCLGDQWPVYCRVIREKNLCQDMRWYQRCCETCRDFYA
QKLQQKS
Sequence length 1207
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Defective B3GALTL causes Peters-plus syndrome (PpS)
O-glycosylation of TSR domain-containing proteins
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
15
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
ADAMTS19-related disorder Likely pathogenic rs780852099 RCV003899744
Cardiac valvular dysplasia 2 Pathogenic rs772148624, rs1269062522, rs780595297 RCV002286544
RCV002286545
RCV002286547
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
ADAMTS19-associated congenital heartdefect Uncertain significance rs2127201481 RCV002266855
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Abortion Habitual Associate 28088271
Muscular Dystrophy Duchenne Associate 36935420
Neoplasm Metastasis Associate 33921267
Neoplasms Associate 33921267
Parkinson Disease Associate 40317721
Primary Ovarian Insufficiency Associate 25989972
Schizophrenia Associate 34716291
Stomach Neoplasms Inhibit 33921267
Tarlov Cysts Associate 33921267