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    ADAM20 ADAM metallopeptidase domain 20 [ Homo sapiens (human) ]

    Gene ID: 8748, updated on 28-Oct-2024

    Summary

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    Official Symbol
    ADAM20provided by HGNC
    Official Full Name
    ADAM metallopeptidase domain 20provided by HGNC
    Primary source
    HGNC:HGNC:199
    See related
    Ensembl:ENSG00000134007 MIM:603712; AllianceGenome:HGNC:199
    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
    Summary
    This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The expression of this gene is testis-specific. [provided by RefSeq, Jul 2008]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    all
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    Genomic context

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    See ADAM20 in Genome Data Viewer
    Location:
    14q24.2
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (70522358..70579452, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (64728380..64785473, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (70989075..71001721, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene ADAM metallopeptidase domain 20 pseudogene 1 Neighboring gene RNA, U6 small nuclear 659, pseudogene Neighboring gene uncharacterized LOC105370556 Neighboring gene ADAM metallopeptidase domain 20 pseudogene Neighboring gene mediator complex subunit 6 Neighboring gene double homeobox A pseudogene 12 Neighboring gene keratin 18 pseudogene 7

    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 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. Sperm-egg fusion disorder in a Chinese male patient was associated with a rare ADAM20 variant. Sha YW, et al. Oncotarget, 2018 Jan 5. PMID 29416755, Free PMC Article
    2. ADAMs (a disintegrin and metalloproteinase) messenger RNA expression in Helicobacter pylori-infected, normal, and neoplastic gastric mucosa. Yoshimura T, et al. J Infect Dis, 2002 Feb 1. PMID 11807715
    3. ADAM 20 and 21; two novel human testis-specific membrane metalloproteases with similarity to fertilin-alpha. Hooft van Huijsduijnen R. Gene, 1998 Jan 12. PMID 9469942
    4. The identification of seven metalloproteinase-disintegrin (ADAM) genes from genomic libraries. Poindexter K, et al. Gene, 1999 Sep 3. PMID 10524237
    5. Paralog knockout profiling identifies DUSP4 and DUSP6 as a digenic dependence in MAPK pathway-driven cancers. Ito T, et al. Nat Genet, 2021 Dec. PMID 34857952

    See all (8) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    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

    Pathways from PubChem

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    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
    		  
    enables metallopeptidase activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in male gonad development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in proteolysis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in single fertilization TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in external side of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    is_active_in sperm head plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    disintegrin and metalloproteinase domain-containing protein 20
    Names
    ADAM 20
    a disintegrin and metalloproteinase domain 20

    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_003814.5 → NP_003805.4  disintegrin and metalloproteinase domain-containing protein 20 preproprotein

      Status: REVIEWED

      Source sequence(s)
      AA400496, AA400588, BC025378
      Consensus CDS
      CCDS32111.2
      UniProtKB/Swiss-Prot
      O43506, Q6GTZ1, Q9UKJ9
      Related
      ENSP00000256389.3, ENST00000256389.5
      Conserved Domains (4) summary
      smart00608
      Location:492 → 628
      ACR; ADAM Cysteine-Rich Domain
      cd04269
      Location:207 → 396
      ZnMc_adamalysin_II_like; Zinc-dependent metalloprotease; adamalysin_II_like subfamily. Adamalysin II is a snake venom zinc endopeptidase. This subfamily contains other snake venom metalloproteinases, as well as membrane-anchored metalloproteases belonging to the ADAM family. ...
      pfam00200
      Location:416 → 488
      Disintegrin; Disintegrin
      pfam01562
      Location:41 → 159
      Pep_M12B_propep; Reprolysin family propeptide

    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_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      70522358..70579452 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005268151.4 → XP_005268208.1  disintegrin and metalloproteinase domain-containing protein 20 isoform X1

      See identical proteins and their annotated locations for XP_005268208.1

      UniProtKB/TrEMBL
      A0A494C0E3
      Conserved Domains (5) summary
      smart00608
      Location:542 → 678
      ACR; ADAM Cysteine-Rich Domain
      cd04269
      Location:257 → 446
      ZnMc_adamalysin_II_like; Zinc-dependent metalloprotease; adamalysin_II_like subfamily. Adamalysin II is a snake venom zinc endopeptidase. This subfamily contains other snake venom metalloproteinases, as well as membrane-anchored metalloproteases belonging to the ADAM family. ...
      pfam00200
      Location:466 → 539
      Disintegrin; Disintegrin
      pfam01421
      Location:257 → 449
      Reprolysin; Reprolysin (M12B) family zinc metalloprotease
      pfam01562
      Location:100 → 208
      Pep_M12B_propep; Reprolysin family propeptide

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      64728380..64785473 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054376861.1 → XP_054232836.1  disintegrin and metalloproteinase domain-containing protein 20 isoform X1

      UniProtKB/TrEMBL
      A0A494C0E3
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O43506.2 GenPept UniProtKB/Swiss-Prot:O43506

    Gene LinkOut

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