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

Gene ID: 55124, updated on 11-Apr-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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Location:
8p21.3
Exon count:
25
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (22275316..22357568)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (22549271..22631533)
105.20220307 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
  • 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. 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. Wang X, et al. Stem Cell Res Ther, 2022 Sep 24. PMID 36153567, Free PMC Article
  2. Multiple transcriptome analysis of Piwil2-induced cancer stem cells, including piRNAs, mRNAs and miRNAs reveals the mechanism of tumorigenesis and development. Tan X, et al. Mol Biol Rep, 2022 Jul. PMID 35182325
  3. P-element Induced WImpy protein-like RNA-mediated gene silencing 2 regulates tumor cell progression, apoptosis, and metastasis in oral squamous cell carcinoma. Zhou S, et al. J Int Med Res, 2021 Nov. PMID 34738477, Free PMC Article
  4. Structural basis for RNA 3'-end recognition by the PIWIL2 PAZ domain. Li Q, et al. Biochem Biophys Res Commun, 2021 May 14. PMID 33774220
  5. PIWIL2 may serve as a prognostic predictor in cancers: A systematic review and meta-analysis. Hu W, et al. J BUON, 2020 Nov-Dec. PMID 33455119

See all (68) 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)

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

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 
enables ribosome binding IEA
Inferred from Electronic Annotation
more info
  
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-mediated retrotransposon silencing by heterochromatin formation 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
  
acts_upstream_of_positive_effect retrotransposon silencing by heterochromatin formation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in retrotransposon silencing by mRNA destabilization IEA
Inferred from Electronic Annotation
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 siRNA-mediated retrotransposon silencing by heterochromatin formation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in spermatogenesis ISS
Inferred from Sequence or Structural Similarity
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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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_2023_10

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.

Chemical Information
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