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    PIWIL2 piwi like RNA-mediated gene silencing 2 [ Homo sapiens (human) ]

    Gene ID: 55124, updated on 9-Jul-2017
    Official Symbol
    PIWIL2provided by HGNC
    Official Full Name
    piwi like RNA-mediated gene silencing 2provided by HGNC
    Primary source
    HGNC:HGNC:17644
    See related
    Ensembl:ENSG00000197181 MIM:610312; Vega:OTTHUMG00000097767
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CT80; HILI; mili; PIWIL1L
    Summary
    PIWIL2 belongs to the Argonaute family of proteins, which function in development and maintenance of germline stem cells (Sasaki et al., 2003 [PubMed 12906857]).[supplied by OMIM, Mar 2008]
    Orthologs
    Location:
    8p21.3
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 8 NC_000008.11 (22275297..22356866)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (22132810..22215560)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC100507071 Neighboring gene RNA polymerase III subunit D Neighboring gene solute carrier family 39 member 14 Neighboring gene ribosomal protein L21 pseudogene 77 Neighboring gene RNA, U6 small nuclear 336, pseudogene

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ10351, MGC133049

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    endoribonuclease activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    mRNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    piRNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    piRNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    DNA methylation involved in gamete generation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    RNA 5'-end processing ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    RNA phosphodiester bond hydrolysis, endonucleolytic IEA
    Inferred from Electronic Annotation
    more info
     
    gene silencing by RNA ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    germ-line stem cell population maintenance ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    meiotic cell cycle IEA
    Inferred from Electronic Annotation
    more info
     
    multicellular organism development IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of transposition ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    oogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    piRNA metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of histone H3-K14 acetylation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of histone H3-K9 acetylation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of meiosis I IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of translation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    spermatogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    P granule ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    PET complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    chromatoid body ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    dense body IEA
    Inferred from Electronic Annotation
    more info
     
    perinucleolar chromocenter IEA
    Inferred from Electronic Annotation
    more info
     
    pi-body ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    polysome IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    piwi-like protein 2
    Names
    80kDa PIWIL2 short isoform
    cancer/testis antigen 80
    piwi-like 2
    piwil2-like protein
    testicular tissue protein Li 141

    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_001135721.1NP_001129193.1  piwi-like protein 2 isoform 1

      See identical proteins and their annotated locations for NP_001129193.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Both variants encode the same protein.
      Source sequence(s)
      AB079367, AK292440, DC403636
      Consensus CDS
      CCDS6029.1
      UniProtKB/Swiss-Prot
      Q8TC59
      UniProtKB/TrEMBL
      W0HK13
      Related
      ENSP00000406956.2, OTTHUMP00000224869, ENST00000454009.6, OTTHUMT00000375438
      Conserved Domains (4) summary
      cd02845
      Location:387504
      PAZ_piwi_like; PAZ domain, Piwi_like subfamily. In multi-cellular organisms, the Piwi protein appears to be essential for the maintenance of germline stem cells. In the Drosophila male germline, Piwi was shown to be involved in the silencing of retrotransposons in the ...
      cd04658
      Location:512956
      Piwi_piwi-like_Euk; Piwi_piwi-like_Euk: PIWI domain, Piwi-like subfamily found in eukaryotes. This domain is found in Piwi and closely related proteins, where it is believed to perform a crucial role in germline cells, via RNA silencing. RNA silencing refers to a group of ...
      pfam08699
      Location:339386
      ArgoL1; Argonaute linker 1 domain
      pfam16486
      Location:218287
      ArgoN; N-terminal domain of argonaute
    2. NM_001330480.1NP_001317409.1  piwi-like protein 2 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC105910, AK299068, AK315830, HQ651229, HY030065
      Consensus CDS
      CCDS83261.1
      UniProtKB/Swiss-Prot
      Q8TC59
    3. NM_018068.3NP_060538.2  piwi-like protein 2 isoform 1

      See identical proteins and their annotated locations for NP_060538.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants encode the same protein.
      Source sequence(s)
      AB079367, AK315830
      Consensus CDS
      CCDS6029.1
      UniProtKB/Swiss-Prot
      Q8TC59
      UniProtKB/TrEMBL
      W0HK13
      Related
      ENSP00000349208.6, OTTHUMP00000123401, ENST00000356766.10, OTTHUMT00000215006
      Conserved Domains (4) summary
      cd02845
      Location:387504
      PAZ_piwi_like; PAZ domain, Piwi_like subfamily. In multi-cellular organisms, the Piwi protein appears to be essential for the maintenance of germline stem cells. In the Drosophila male germline, Piwi was shown to be involved in the silencing of retrotransposons in the ...
      cd04658
      Location:512956
      Piwi_piwi-like_Euk; Piwi_piwi-like_Euk: PIWI domain, Piwi-like subfamily found in eukaryotes. This domain is found in Piwi and closely related proteins, where it is believed to perform a crucial role in germline cells, via RNA silencing. RNA silencing refers to a group of ...
      pfam08699
      Location:339386
      ArgoL1; Argonaute linker 1 domain
      pfam16486
      Location:218287
      ArgoN; N-terminal domain of argonaute

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p7 Primary Assembly

      Range
      22275297..22356866
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005273550.4XP_005273607.1  piwi-like protein 2 isoform X1

      Related
      ENSP00000428267.1, OTTHUMP00000224868, ENST00000521356.5, OTTHUMT00000375437
      Conserved Domains (4) summary
      cd02845
      Location:387504
      PAZ_piwi_like; PAZ domain, Piwi_like subfamily. In multi-cellular organisms, the Piwi protein appears to be essential for the maintenance of germline stem cells. In the Drosophila male germline, Piwi was shown to be involved in the silencing of retrotransposons in the ...
      cd04658
      Location:512920
      Piwi_piwi-like_Euk; Piwi_piwi-like_Euk: PIWI domain, Piwi-like subfamily found in eukaryotes. This domain is found in Piwi and closely related proteins, where it is believed to perform a crucial role in germline cells, via RNA silencing. RNA silencing refers to a group of ...
      pfam08699
      Location:339386
      ArgoL1; Argonaute linker 1 domain
      pfam16486
      Location:218287
      ArgoN; N-terminal domain of argonaute
    2. XM_005273551.3XP_005273608.1  piwi-like protein 2 isoform X2

      Conserved Domains (4) summary
      cd02845
      Location:387504
      PAZ_piwi_like; PAZ domain, Piwi_like subfamily. In multi-cellular organisms, the Piwi protein appears to be essential for the maintenance of germline stem cells. In the Drosophila male germline, Piwi was shown to be involved in the silencing of retrotransposons in the ...
      cd04658
      Location:512802
      Piwi_piwi-like_Euk; Piwi_piwi-like_Euk: PIWI domain, Piwi-like subfamily found in eukaryotes. This domain is found in Piwi and closely related proteins, where it is believed to perform a crucial role in germline cells, via RNA silencing. RNA silencing refers to a group of ...
      pfam08699
      Location:339386
      ArgoL1; Argonaute linker 1 domain
      pfam16486
      Location:218287
      ArgoN; N-terminal domain of argonaute

    Alternate CHM1_1.1

    Genomic

    1. NC_018919.2 Alternate CHM1_1.1

      Range
      22334485..22415561
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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