ADAMTS19 - ADAM metallopeptidase with thrombospondin type 1 motif 19 Gene

Also Known as CVDP2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 171019

About ADAMTS19

Cytogenetic location: 5q23.3 Genomic coordinates (GRCh38): 5:129,460,298-129,738,683 (from NCBI)

This gene has 4 transcripts (splice variants), 139 orthologues and 25 paralogues. Biased expression in endometrium (RPKM 3.1), placenta (RPKM 1.6) and 2 other tissues.

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-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene has high sequence similarity to the protein encoded by ADAMTS16, another family member. [provided by RefSeq, Jul 2008]

ADAMTS19 Products (1)

mRNA Protein Name
NM_133638.6 NP_598377.4 A disintegrin and metalloproteinase with thrombospondin motifs 19
Biological Process GO Annotation Evidence References Source
involved in aortic valve morphogenesis IMP
IMP: Inferred from mutant phenotype
31844321 GOA
involved in mitral valve morphogenesis IMP
IMP: Inferred from mutant phenotype
31844321 GOA
involved in pulmonary valve morphogenesis IMP
IMP: Inferred from mutant phenotype
32323311 GOA
involved in tricuspid valve morphogenesis IMP
IMP: Inferred from mutant phenotype
32323311 GOA
involved in ventricular septum morphogenesis IMP
IMP: Inferred from mutant phenotype
32323311 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ADAMTS19 Protein Structure

Pep_M12B_propep

Pep_M12B_propep: Reprolysin family propeptide (157 - 273)

Reprolysin

Reprolysin: Reprolysin (M12B) family zinc metalloprotease (327 - 543)

TSP_1

TSP_1: Thrombospondin type 1 domain (638 - 685)

ADAM_spacer1

ADAM_spacer1: ADAM-TS Spacer 1 (790 - 900)

TSP_1

TSP_1: Thrombospondin type 1 domain (983 - 1036)

TSP_1

TSP_1: Thrombospondin type 1 domain (1044 - 1088)

TSP_1

TSP_1: Thrombospondin type 1 domain (1094 - 1143)

PLAC

PLAC: PLAC (protease and lacunin) domain (1163 - 1196)

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  • 1207 a.a.
Protein Preferred Names Protein Names

A disintegrin and metalloproteinase with thrombospondin motifs 19

  • a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19

Related Diseases

Diseases Alias
Cardiac Valvular Dysplasia 2
  • CVDP2

Discrete Subaortic Stenosis
Subvalvular Aortic Stenosis
  • Fixed Subaortic Stenosis

  • Subaortic Stenosis

  • Aortic Stenosis, Subvalvular

Winchester Syndrome
  • WNCHRS

  • Winchester Disease

  • Winchester-Grossman Syndrome

Nanophthalmos
  • Nanophthalmia

Weill-Marchesani Syndrome
  • Gemss Syndrome

  • Spherophakia-Brachymorphia Syndrome

  • Marchesani-Weill Syndrome

  • Wms

  • Congenital Mesodermal Dystrophy

  • Mesodermal Dysmorphodystrophy, Congenital

  • Spherophakia Brachymorphia Syndrome

  • Mesodermal Dysmorphodystrophy Congenital

  • Wm Syndrome

  • Brachydactyly-Spherophakia Syndrome

  • Brachymorphy With Spherophakia Syndrome

  • Congenital Mesodermal Dysmorphodystrophy

  • Marchesani Syndrome

  • Weill-Marchesani Syndrome, Autosomal Recessive

  • Weill-Marchesani Syndrome, Autosomal Dominant

Premature Menopause
  • Primary Ovarian Insufficiency

  • Premature Ovarian Failure

  • Hypergonadotropic Hypogonadism

  • Premature Ovarian Insufficiency

  • Menopause - Premature

  • Menopause Praecox

  • Menopause Premature

  • Menopause, Premature

  • Female Hypergonadotropic Hypogonadism

  • Hypergonadotrophic Ovarian Failure

  • Primary Female Hypogonadism

  • Pof - [Premature Ovarian Failure]

  • Ovarian Failure

  • Ovarian Secretion Suppression

  • Ovary Hyposecretion

  • Ovary Secretion Deficiency

  • Premature Menopause Nos

Aortic Valve Disease 1
  • Aortic Valve Disease

  • Bicuspid Aortic Valve

  • Aortic Valve Disorder

  • AOVD1

  • Bav

  • Bicuspid Aortic Valve Disease

  • Familial Bicuspid Aortic Valve

  • Aortic Valve Calcification

  • Aovd

  • Aortic Valve, Bicuspid

  • Aortic Valve, Calcification Of

  • Aortic Stenosis, Calcific

  • Familial Bav

  • Calcific Aortic Stenosis

  • Calcification Of Aortic Valve

  • Abnormality Of The Aortic Valve

  • Aortic Valve Disease, Type 1

  • Aortic Valve Disease 2

  • Bicommissural Aortic Valve

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Felis catus ADAMTS19 VGNC VGNC:102153
Mus musculus ADAMTS19 MGD MGI:2442875
Bos taurus ADAMTS19 VGNC VGNC:25623
Rattus norvegicus ADAMTS19 RGD RGD:1308359
Macaca mulatta ADAMTS19 VGNC VGNC:110490
Canis familiaris ADAMTS19 VGNC VGNC:37597
Others ADAMTS19 NCBI