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

    Gene ID: 55124, updated on 10-Dec-2024

    Summary

    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; AllianceGenome:HGNC:17644
    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]
    Expression
    Biased expression in testis (RPKM 18.7), duodenum (RPKM 3.2) and 2 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See PIWIL2 in Genome Data Viewer
    Location:
    8p21.3
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (22275316..22357568)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (22549271..22631533)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (22132829..22215081)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:22102421-22103088 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_102829 Neighboring gene microRNA 320a Neighboring gene RNA polymerase III subunit D Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_102832 Neighboring gene PIWIL2 divergent transcript Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_102836 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:22133109-22133754 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_102848 Neighboring gene Sharpr-MPRA regulatory region 10265 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_102863 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_102872 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_102873 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:22223390-22223890 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18984 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27078 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:22226031-22226209 Neighboring gene solute carrier family 39 member 14 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:22241071-22241684 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:22250571-22251133 Neighboring gene ribosomal protein L21 pseudogene 77 Neighboring gene MPRA-validated peak6937 silencer Neighboring gene RNA, U6 small nuclear 336, pseudogene

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (17 hits/1256 screens)

    EBI GWAS Catalog

    Description
    Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    General gene information

    Clone Names

    • FLJ10351, MGC133049

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA endonuclease activity  
    enables RNA endonuclease activity  
    enables mRNA binding  
    enables metal ion binding  
    enables piRNA binding  
    enables piRNA binding PubMed 
    enables piRNA binding  
    enables protein binding PubMed 
    Process Evidence Code Pubs
    involved_in germ-line stem cell population maintenance  
    involved_in meiotic cell cycle  
    involved_in negative regulation of circadian rhythm PubMed 
    involved_in oogenesis  
    involved_in piRNA processing  
    involved_in piRNA-mediated gene silencing by mRNA destabilization  
    involved_in positive regulation of cytoplasmic translation  
    involved_in positive regulation of meiosis I  
    involved_in regulatory ncRNA-mediated gene silencing  
    involved_in regulatory ncRNA-mediated gene silencing  
    involved_in rhythmic process  
    involved_in secondary piRNA processing  
    involved_in spermatogenesis  
    involved_in spermatogenesis  
    acts_upstream_of_positive_effect transposable element silencing by heterochromatin formation  
    involved_in transposable element silencing by mRNA destabilization  
    involved_in transposable element silencing by piRNA-mediated DNA methylation  
    involved_in transposable element silencing by piRNA-mediated heterochromatin formation  
    Component Evidence Code Pubs
    is_active_in P granule  
    located_in P granule  
    part_of PET complex  
    located_in chromatoid body  
    located_in cytoplasm PubMed 
    located_in cytoplasm  
    located_in dense body  
    is_active_in nucleus  
    located_in nucleus PubMed 
    located_in perinucleolar chromocenter  
    located_in pi-body  

    General protein information

    Preferred Names
    piwi-like protein 2
    Names
    cancer/testis antigen 80
    piwi-like 2
    piwil2-like protein
    testicular tissue protein Li 141
    NP_001129193.1
    NP_001317409.1
    NP_060538.2
    XP_005273608.1
    XP_047277880.1
    XP_047277881.1
    XP_054216721.1
    XP_054216722.1
    XP_054216723.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001135721.3 → NP_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)
      AC105206, AC105910
      Consensus CDS
      CCDS6029.1
      UniProtKB/Swiss-Prot
      A8K4S3, A8K8S5, B0AZN9, B0AZP2, B4DR22, E7ECA4, Q8TC59, Q96SW6, Q9NW28
      UniProtKB/TrEMBL
      W0HK13
      Related
      ENSP00000406956.2, ENST00000454009.6
      Conserved Domains (3) summary
      cd02845
      Location:387 → 504
      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:512 → 956
      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:339 → 386
      ArgoL1; Argonaute linker 1 domain
    2. NM_001330480.2 → NP_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
      Related
      ENSP00000428267.1, ENST00000521356.5
    3. NM_018068.5 → NP_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)
      AC105206, AC105910
      Consensus CDS
      CCDS6029.1
      UniProtKB/Swiss-Prot
      A8K4S3, A8K8S5, B0AZN9, B0AZP2, B4DR22, E7ECA4, Q8TC59, Q96SW6, Q9NW28
      UniProtKB/TrEMBL
      W0HK13
      Related
      ENSP00000349208.6, ENST00000356766.11
      Conserved Domains (3) summary
      cd02845
      Location:387 → 504
      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:512 → 956
      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:339 → 386
      ArgoL1; Argonaute linker 1 domain

    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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      22275316..22357568
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005273551.5 → XP_005273608.1  piwi-like protein 2 isoform X2

      Conserved Domains (4) summary
      cd02845
      Location:387 → 504
      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:512 → 802
      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:339 → 386
      ArgoL1; Argonaute linker 1 domain
      pfam16486
      Location:218 → 287
      ArgoN; N-terminal domain of argonaute
    2. XM_047421924.1 → XP_047277880.1  piwi-like protein 2 isoform X1

    3. XM_047421925.1 → XP_047277881.1  piwi-like protein 2 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      22549271..22631533
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054360747.1 → XP_054216722.1  piwi-like protein 2 isoform X2

    2. XM_054360746.1 → XP_054216721.1  piwi-like protein 2 isoform X1

    3. XM_054360748.1 → XP_054216723.1  piwi-like protein 2 isoform X2

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