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ADAMTS19 ADAM metallopeptidase with thrombospondin type 1 motif 19 [ Homo sapiens (human) ]

Gene ID: 171019, updated on 3-Apr-2024

Summary

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Official Symbol
ADAMTS19provided by HGNC
Official Full Name
ADAM metallopeptidase with thrombospondin type 1 motif 19provided by HGNC
Primary source
HGNC:HGNC:17111
See related
Ensembl:ENSG00000145808 MIM:607513; AllianceGenome:HGNC:17111
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CVDP2
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]
Expression
Biased expression in endometrium (RPKM 3.1), placenta (RPKM 1.6) and 2 other tissues See more
Orthologs
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Genomic context

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Location:
5q23.3
Exon count:
26
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (129460298..129738683)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (129978934..130257460)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (128795991..129074376)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102723654 Neighboring gene uncharacterized LOC105379169 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_80935 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:128733796-128734784 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:128746164-128746707 Neighboring gene NANOG hESC enhancer GRCh37_chr5:128784412-128784978 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:128794950-128795912 Neighboring gene ADAMTS19 antisense RNA 1 Neighboring gene microRNA 4460 Neighboring gene NANOG hESC enhancer GRCh37_chr5:129004984-129005522 Neighboring gene NANOG hESC enhancer GRCh37_chr5:129103445-129103946 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:129107197-129107750 Neighboring gene membrane integral NOTCH2 associated receptor 2 Neighboring gene uncharacterized LOC112267944 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16299 Neighboring gene chondroitin sulfate synthase 3

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. ADAMTS19 Suppresses Cell Migration and Invasion by Targeting S100A16 via the NF-κB Pathway in Human Gastric Cancer. Jiang Y, et al. Biomolecules, 2021 Apr 12. PMID 33921267, Free PMC Article
  2. ADAMTS19-associated heart valve defects: Novel genetic variants consolidating a recognizable cardiac phenotype. Massadeh S, et al. Clin Genet, 2020 Jul. PMID 32323311
  3. Epistasis between polymorphisms in ACVR2B and ADAMTS19 is associated with premature ovarian failure. Pyun JA, et al. Menopause, 2015 Feb. PMID 25051287
  4. Epistasis between IGF2R and ADAMTS19 polymorphisms associates with premature ovarian failure. Pyun JA, et al. Hum Reprod, 2013 Nov. PMID 24014609
  5. Genome-wide association study of SSRI/SNRI-induced sexual dysfunction in a Japanese cohort with major depression. Kurose K, et al. Psychiatry Res, 2012 Aug 15. PMID 22445761

See all (15) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. ADAMTS19-associated heart valve defects: Novel genetic variants consolidating a recognizable cardiac phenotype.
    Title: ADAMTS19-associated heart valve defects: Novel genetic variants consolidating a recognizable cardiac phenotype.
  2. ADAMTS19 Suppresses Cell Migration and Invasion by Targeting S100A16 via the NF-kappaB Pathway in Human Gastric Cancer.
    Title: ADAMTS19 Suppresses Cell Migration and Invasion by Targeting S100A16 via the NF-κB Pathway in Human Gastric Cancer.
  3. Mutations in ADAMTS19 lead to progressive heart valve disease.
    Title: Loss of ADAMTS19 causes progressive non-syndromic heart valve disease.
  4. The pregnancy loss rate does not appear to be affected by both ADAMTS-13 and ADAMTS-19.
    Title: ADAMTS-3, -13, -16, and -19 levels in patients with habitual abortion.
  5. We found that the AAAAA, AGGAG, and AGGGA haplotypes in ACVR2B were associated with susceptibility to Premature Ovarian Failure when they also had at least one CATAG haplotype in ADAMTS19.
    Title: Epistasis between polymorphisms in ACVR2B and ADAMTS19 is associated with premature ovarian failure.
  6. Synergistic interactions were detected between SNPs, including a non-synonymous SNP, and diplotypes within IGF2R and ADAMTS19 which may contribute to POF.
    Title: Epistasis between IGF2R and ADAMTS19 polymorphisms associates with premature ovarian failure.
  7. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
    Title: Genome-wide association study in premature ovarian failure patients suggests ADAMTS19 as a possible candidate gene.
  8. Although limited by sample size, this proof-of-principle study's findings reveal ADAMTS19 as a possible candidate gene for premature ovarian failure and thus a larger follow-up study is warranted.
    Title: Genome-wide association study in premature ovarian failure patients suggests ADAMTS19 as a possible candidate gene.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Cardiac valvular dysplasia 2
MedGen: C5774226 OMIM: 620067 GeneReviews: Not available
not available

EBI GWAS Catalog

Description
Genome-wide association study of SSRI/SNRI-induced sexual dysfunction in a Japanese cohort with major depression.
EBI GWAS Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Vif vif HIV-1 Vif downregulates the expression of ADAM metallopeptidase with thrombospondin type 1 motif 19 protein (ADAMTS19) in Vif-expression T cells PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ16042

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables metalloendopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in extracellular matrix organization IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in proteolysis IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in proteolysis IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in extracellular matrix IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
A disintegrin and metalloproteinase with thrombospondin motifs 19
Names
a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_133638.6 → NP_598377.4  A disintegrin and metalloproteinase with thrombospondin motifs 19

    Status: REVIEWED

    Source sequence(s)
    AC008425, AC008528, AC008591, AC106781, AC129713
    Consensus CDS
    CCDS4146.2
    UniProtKB/Swiss-Prot
    Q8TE59
    UniProtKB/TrEMBL
    A0A1X7SBR9
    Related
    ENSP00000274487.5, ENST00000274487.9

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    129460298..129738683
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047416876.1 → XP_047272832.1  A disintegrin and metalloproteinase with thrombospondin motifs 19 isoform X1

  2. XM_047416878.1 → XP_047272834.1  A disintegrin and metalloproteinase with thrombospondin motifs 19 isoform X3

  3. XM_047416877.1 → XP_047272833.1  A disintegrin and metalloproteinase with thrombospondin motifs 19 isoform X2

  4. XM_011543246.3 → XP_011541548.1  A disintegrin and metalloproteinase with thrombospondin motifs 19 isoform X4

    UniProtKB/Swiss-Prot
    Q8TE59
    Conserved Domains (5) summary
    smart00209
    Location:403 → 452
    TSP1; Thrombospondin type 1 repeats
    cd04273
    Location:87 → 304
    ZnMc_ADAMTS_like; Zinc-dependent metalloprotease, ADAMTS_like subgroup. ADAMs (A Disintegrin And Metalloprotease) are glycoproteins, which play roles in cell signaling, cell fusion, and cell-cell interactions. This particular subfamily represents domain architectures that ...
    pfam01421
    Location:89 → 305
    Reprolysin; Reprolysin (M12B) family zinc metalloprotease
    pfam05986
    Location:556 → 677
    ADAM_spacer1; ADAM-TS Spacer 1
    pfam08686
    Location:948 → 973
    PLAC; PLAC (protease and lacunin) domain

  5. XM_047416880.1 → XP_047272836.1  A disintegrin and metalloproteinase with thrombospondin motifs 19 isoform X6

  6. XM_047416879.1 → XP_047272835.1  A disintegrin and metalloproteinase with thrombospondin motifs 19 isoform X5

  7. XM_047416881.1 → XP_047272837.1  A disintegrin and metalloproteinase with thrombospondin motifs 19 isoform X7

  8. XM_017009174.2 → XP_016864663.1  A disintegrin and metalloproteinase with thrombospondin motifs 19 isoform X8

  9. XM_047416883.1 → XP_047272839.1  A disintegrin and metalloproteinase with thrombospondin motifs 19 isoform X9

  10. XM_011543249.3 → XP_011541551.1  A disintegrin and metalloproteinase with thrombospondin motifs 19 isoform X10

    Conserved Domains (4) summary
    smart00209
    Location:199 → 248
    TSP1; Thrombospondin type 1 repeats
    pfam05986
    Location:352 → 473
    ADAM_spacer1; ADAM-TS Spacer 1
    pfam08686
    Location:744 → 769
    PLAC; PLAC (protease and lacunin) domain
    cl00064
    Location:6 → 100
    ZnMc; Zinc-dependent metalloprotease. This super-family of metalloproteases contains two major branches, the astacin-like proteases and the adamalysin/reprolysin-like proteases. Both branches have wide phylogenetic distribution, and contain sub-families, which ...

RNA

  1. XR_007058587.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    129978934..130257460
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054351926.1 → XP_054207901.1  A disintegrin and metalloproteinase with thrombospondin motifs 19 isoform X1

  2. XM_054351928.1 → XP_054207903.1  A disintegrin and metalloproteinase with thrombospondin motifs 19 isoform X3

  3. XM_054351927.1 → XP_054207902.1  A disintegrin and metalloproteinase with thrombospondin motifs 19 isoform X2

  4. XM_054351929.1 → XP_054207904.1  A disintegrin and metalloproteinase with thrombospondin motifs 19 isoform X4

  5. XM_054351931.1 → XP_054207906.1  A disintegrin and metalloproteinase with thrombospondin motifs 19 isoform X6

  6. XM_054351930.1 → XP_054207905.1  A disintegrin and metalloproteinase with thrombospondin motifs 19 isoform X5

  7. XM_054351932.1 → XP_054207907.1  A disintegrin and metalloproteinase with thrombospondin motifs 19 isoform X7

  8. XM_054351933.1 → XP_054207908.1  A disintegrin and metalloproteinase with thrombospondin motifs 19 isoform X8

  9. XM_054351934.1 → XP_054207909.1  A disintegrin and metalloproteinase with thrombospondin motifs 19 isoform X9

  10. XM_054351935.1 → XP_054207910.1  A disintegrin and metalloproteinase with thrombospondin motifs 19 isoform X10

RNA

  1. XR_008487092.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8TE59.2 GenPept UniProtKB/Swiss-Prot:Q8TE59

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