PIWI-Like RNA-Mediated Gene Silencing 2

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Alternative Names

  • PIWIL2
  • PIWI-Like 2
  • Mili, Mouse, Homolog Of
  • Mili

Associated Diseases

Spermatogenic Failure 1
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OMIM Number

610312

NCBI Gene ID

55124

Uniprot ID

Q8TC59

Length

82,253 bases

No. of Exons

25

No. of isoforms

2

Protein Name

Piwi-like protein 2

Molecular Mass

109849 Da

Amino Acid Count

973

Genomic Location

chr8:22,275,316-22,357,568

Gene Map Locus
8p21.3

Description

PIWIL2 belongs to the Argonaute family of proteins, which function in development and maintenance of germline stem cells.[From OMIM]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_018068.5:c.727_729delSaudi ArabiaNC_000008.11:g.22284256_22284258delLikely PathogenicSpermatogenic Failure 1NM_018068.5:c.727_729del; NP_060538.2:p.Tyr243del
NM_018068.5:c.745C>TSaudi ArabiaNC_000008.11:g.22287529C>TLikely PathogenicSpermatogenic Failure 1NM_018068.5:c.745C>T; NP_060538.2:p.Pro249Ser1422503177
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External Links

https://www.genecards.org/cgi-bin/carddisp.pl?gene=PIWIL2 https://www.ncbi.nlm.nih.gov/gene/55124

Contributors

  • Pratibha Nair: 20.03.2023

Edit History

  • Pratibha Nair: 20.03.2023
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.