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

    Gene ID: 55124, updated on 14-Nov-2024

    Summary

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    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
    mouse all
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    Genomic context

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    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

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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. [Expression of Piwil2 and its relationship with tumor invasion and metastasis in papillary thyroid carcinoma]. Yin DT, et al. Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi, 2011 Mar. PMID 21575418
    2. The immunogenicity of a novel cytotoxic T lymphocyte epitope from tumor antigen PL2L60 could be enhanced by 4-chlorophenylalanine substitution at position 1. Shi RR, et al. Cancer Immunol Immunother, 2013 Nov. PMID 24077852, Free PMC Article
    3. The expression of stem cell protein Piwil2 and piR-932 in breast cancer. Zhang H, et al. Surg Oncol, 2013 Dec. PMID 23992744
    4. A TALEN-based specific transcript knock-down of PIWIL2 suppresses cell growth in HepG2 tumor cell. Chen Y, et al. Cell Prolif, 2014 Oct. PMID 25040173, Free PMC Article
    5. Epigenetic disruption of the PIWI pathway in human spermatogenic disorders. Heyn H, et al. PLoS One, 2012. PMID 23112866, Free PMC Article

    See all (70) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. PIWIL2 restrains the progression of thyroid cancer via interaction with miR-146a-3p.
      Title: PIWIL2 restrains the progression of thyroid cancer via interaction with miR-146a-3p.
    2. A homozygous PIWIL2 frameshift variant affects the formation and maintenance of human-induced pluripotent stem cell-derived spermatogonial stem cells and causes Sertoli cell-only syndrome.
      Title: A homozygous PIWIL2 frameshift variant affects the formation and maintenance of human-induced pluripotent stem cell-derived spermatogonial stem cells and causes Sertoli cell-only syndrome.
    3. Multiple transcriptome analysis of Piwil2-induced cancer stem cells, including piRNAs, mRNAs and miRNAs reveals the mechanism of tumorigenesis and development.
      Title: Multiple transcriptome analysis of Piwil2-induced cancer stem cells, including piRNAs, mRNAs and miRNAs reveals the mechanism of tumorigenesis and development.
    4. Lower Spermatozoal PIWI-LIKE 1 and 2 Transcript Levels Are Significantly Associated with Higher Fertilization Rates in IVF.
      Title: Lower Spermatozoal PIWI-LIKE 1 and 2 Transcript Levels Are Significantly Associated with Higher Fertilization Rates in IVF.
    5. P-element Induced WImpy protein-like RNA-mediated gene silencing 2 regulates tumor cell progression, apoptosis, and metastasis in oral squamous cell carcinoma.
      Title: P-element Induced WImpy protein-like RNA-mediated gene silencing 2 regulates tumor cell progression, apoptosis, and metastasis in oral squamous cell carcinoma.
    6. CBP-mediated Wnt3a/beta-catenin signaling promotes cervical oncogenesis initiated by Piwil2.
      Title: CBP-mediated Wnt3a/β-catenin signaling promotes cervical oncogenesis initiated by Piwil2.
    7. PIWIL2 may serve as a prognostic predictor in cancers: A systematic review and meta-analysis.
      Title: PIWIL2 may serve as a prognostic predictor in cancers: A systematic review and meta-analysis.
    8. Structural basis for RNA 3'-end recognition by the PIWIL2 PAZ domain.
      Title: Structural basis for RNA 3'-end recognition by the PIWIL2 PAZ domain.
    9. PIWIL-2 and piRNAs are regularly expressed in epithelia of the skin and their expression is related to differentiation.
      Title: PIWIL-2 and piRNAs are regularly expressed in epithelia of the skin and their expression is related to differentiation.
    10. Generation of an iPSC line (HUSTi002-A) from fibroblasts of a patient with Sertoli cell-only syndrome carrying c.731_732delAT in PIWIL2 gene.
      Title: Generation of an iPSC line (HUSTi002-A) from fibroblasts of a patient with Sertoli cell-only syndrome carrying c.731_732delAT in PIWIL2 gene.
    Submit: New GeneRIF Correction See all GeneRIFs (54)

    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

    EBI GWAS Catalog

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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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

    Clone Names

    • FLJ10351, MGC133049

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA endonuclease activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables RNA endonuclease activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables mRNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables piRNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables piRNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables piRNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in germ-line stem cell population maintenance ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in meiotic cell cycle IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of circadian rhythm IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in oogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in piRNA processing IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in piRNA-mediated gene silencing by mRNA destabilization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of cytoplasmic translation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of meiosis I IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulatory ncRNA-mediated gene silencing IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulatory ncRNA-mediated gene silencing ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in rhythmic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in secondary piRNA processing IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in spermatogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in spermatogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    acts_upstream_of_positive_effect transposable element silencing by heterochromatin formation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in transposable element silencing by mRNA destabilization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in transposable element silencing by piRNA-mediated DNA methylation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in transposable element silencing by piRNA-mediated heterochromatin formation IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in P granule IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in P granule ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    part_of PET complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in chromatoid body ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in dense body IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in perinucleolar chromocenter IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in pi-body ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    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)

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    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

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8TC59.1 GenPept UniProtKB/Swiss-Prot:Q8TC59

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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