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

    Gene ID: 171019, updated on 26-Nov-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
    mouse all
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    Genomic context

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    See ADAMTS19 in Genome Data Viewer
    Location:
    5q23.3
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (129460298..129738683)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (129978934..130257460)
    RS_2024_09 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)

    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

    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 aortic valve morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in collagen fibril organization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in extracellular matrix organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitral valve morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in proteolysis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in proteolysis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in pulmonary valve morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in tricuspid valve morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in ventricular septum morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    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_2024_08

    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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