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

Gene ID: 8748, updated on 5-Mar-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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Location:
14q24.2
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (70522358..70579452, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (64728380..64785473, complement)
105.20220307 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
  • 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. VIRMA mediates preferential m(6)A mRNA methylation in 3'UTR and near stop codon and associates with alternative polyadenylation. Yue Y, et al. Cell Discov, 2018. PMID 29507755, Free PMC Article

See all (7) 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_2023_10

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

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