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Aliases for PIWIL2 Gene

Aliases for PIWIL2 Gene

  • Piwi Like RNA-Mediated Gene Silencing 2 2 3 5
  • Cancer/Testis Antigen 80 2 3 4
  • CT80 3 4
  • HILI 3 4
  • Testicular Tissue Protein Li 141 3
  • 80kDa PIWIL2 Short Isoform 3
  • Piwi-Like 2 (Drosophila) 2
  • Piwi-Like Protein 2 3
  • Piwil2-Like Protein 3
  • Piwi-Like 2 3
  • EC 3.1.26.- 4
  • Hiwi-Like 2
  • PIWIL1L 3
  • Mili 3

External Ids for PIWIL2 Gene

Previous GeneCards Identifiers for PIWIL2 Gene

  • GC08P021891
  • GC08P022485
  • GC08P021953
  • GC08P022154
  • GC08P022188
  • GC08P022132
  • GC08P020675

Summaries for PIWIL2 Gene

Entrez Gene Summary for PIWIL2 Gene

  • 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]

GeneCards Summary for PIWIL2 Gene

PIWIL2 (Piwi Like RNA-Mediated Gene Silencing 2) is a Protein Coding gene. Diseases associated with PIWIL2 include Caplan's Syndrome and Acute Cor Pulmonale. Among its related pathways are Dorso-ventral axis formation and Gene Expression. GO annotations related to this gene include nucleic acid binding and piRNA binding. An important paralog of this gene is PIWIL1.

UniProtKB/Swiss-Prot for PIWIL2 Gene

  • Endoribonuclease that plays a central role during spermatogenesis by repressing transposable elements and preventing their mobilization, which is essential for the germline integrity (By similarity). Plays an essential role in meiotic differentiation of spermatocytes, germ cell differentiation and in self-renewal of spermatogonial stem cells (By similarity). Its presence in oocytes suggests that it may participate in similar functions during oogenesis in females (By similarity). Acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and govern the methylation and subsequent repression of transposons (By similarity). Directly binds piRNAs, a class of 24 to 30 nucleotide RNAs that are generated by a Dicer-independent mechanism and are primarily derived from transposons and other repeated sequence elements (By similarity). Associates with primary piRNAs in the cytoplasm and is required for PIWIL4/MIWI2 nuclear localization and association with secondary piRNAs antisense (By similarity). Plays a key role in the piRNA amplification loop, also named ping-pong amplification cycle, by acting as a slicer-competent piRNA endoribonuclease that cleaves primary piRNAs, which are then loaded onto slicer-incompetent PIWIL4 (By similarity). Besides their function in transposable elements repression, piRNAs are probably involved in other processes during meiosis such as translation regulation (By similarity). Indirectly modulates expression of genes such as PDGFRB, SLC2A1, ITGA6, GJA7, THY1, CD9 and STRA8 (By similarity). Inhibits tumor cell growth when repressed (By similarity). When overexpressed, acts as an oncogene by inhibition of apoptosis and promotion of proliferation in tumors (PubMed:16377660).

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PIWIL2 Gene

Genomics for PIWIL2 Gene

Regulatory Elements for PIWIL2 Gene

Enhancers for PIWIL2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH08G022363 2 FANTOM5 Ensembl ENCODE dbSUPER 41.7 +92.3 92346 8.3 HDGF HNRNPUL1 FOXA2 PKNOX1 MLX CREB3L1 ARNT ZFP64 SIN3A ARID4B PIWIL2 PPP3CC SLC39A14 PDLIM2 ENSG00000248235 RNU6-336P ENSG00000253616 BTF3P3 POLR3D DMTN
GH08G022352 1.5 Ensembl ENCODE dbSUPER 47 +77.9 77878 2.3 ATF1 FOXA2 SIN3A FEZF1 GLIS2 ZNF143 FOS DEK NCOA1 TSHZ1 PIWIL2 PHYHIP ENSG00000253200 FGF17 SORBS3 LOC101929237 C8orf58 ENSG00000251034 RNU6-336P PPP3CC
GH08G022355 1.5 Ensembl ENCODE dbSUPER 44.2 +83.0 82990 6.4 FOXA2 ATF1 MLX ARID4B DMAP1 ZNF48 YY1 ZNF121 FOS ZNF263 PIWIL2 SORBS3 ENSG00000251034 RNU6-336P PPP3CC SLC39A14
GH08G022305 0.9 ENCODE 56.7 +31.1 31112 1.4 FOXA2 SREBF2 ZNF48 RAD21 ZNF335 ZNF121 GLIS2 EGR1 ZNF143 PCBP1 PIWIL2 LOC100507071 SLC39A14
GH08G022312 0.8 ENCODE 51.8 +38.8 38769 3.7 HDAC1 ATF1 FOXA2 KLF17 TCF12 ZNF121 SCRT2 EGR2 CEBPB USF2 PIWIL2 SLC39A14 LOC100507071 MIR320A POLR3D PHYHIP PPP3CC RNU6-336P
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PIWIL2 on UCSC Golden Path with GeneCards custom track

Genomic Location for PIWIL2 Gene

Chromosome:
8
Start:
22,275,297 bp from pter
End:
22,357,568 bp from pter
Size:
82,272 bases
Orientation:
Plus strand

Genomic View for PIWIL2 Gene

Genes around PIWIL2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PIWIL2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PIWIL2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PIWIL2 Gene

Proteins for PIWIL2 Gene

  • Protein details for PIWIL2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TC59-PIWL2_HUMAN
    Recommended name:
    Piwi-like protein 2
    Protein Accession:
    Q8TC59
    Secondary Accessions:
    • A8K4S3
    • A8K8S5
    • B0AZN9
    • B0AZP2
    • B4DR22
    • E7ECA4
    • Q96SW6
    • Q9NW28

    Protein attributes for PIWIL2 Gene

    Size:
    973 amino acids
    Molecular mass:
    109849 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Interacts with DDX4, MAEL, EIF3A, EIF4E, EIF4G, PRMT5 and WDR77. Associates with EIF4E- and EIF4G-containing m7G cap-binding complexes. Interacts (when methylated on arginine residues) with TDRD1 and TDRKH/TDRD2. Interacts with TDRD12. Component of the PET complex, at least composed of EXD1, PIWIL2, TDRD12 and piRNAs. Interacts with MOV10L1. Interacts with GPAT2.
    SequenceCaution:
    • Sequence=BAA91558.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAB55155.1; Type=Erroneous termination; Positions=421; Note=Translated as Arg.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for PIWIL2 Gene

    Alternative splice isoforms for PIWIL2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PIWIL2 Gene

Post-translational modifications for PIWIL2 Gene

  • Arginine methylation by PRMT5 is required for the interaction with Tudor domain-containing protein TDRD1 and subsequent localization to the meiotic nuage, also named P granule.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PIWIL2 Gene

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for PIWIL2

No data available for DME Specific Peptides for PIWIL2 Gene

Domains & Families for PIWIL2 Gene

Gene Families for PIWIL2 Gene

Suggested Antigen Peptide Sequences for PIWIL2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8TC59

UniProtKB/Swiss-Prot:

PIWL2_HUMAN :
  • Belongs to the argonaute family. Piwi subfamily.
Family:
  • Belongs to the argonaute family. Piwi subfamily.
genes like me logo Genes that share domains with PIWIL2: view

Function for PIWIL2 Gene

Molecular function for PIWIL2 Gene

UniProtKB/Swiss-Prot Function:
Endoribonuclease that plays a central role during spermatogenesis by repressing transposable elements and preventing their mobilization, which is essential for the germline integrity (By similarity). Plays an essential role in meiotic differentiation of spermatocytes, germ cell differentiation and in self-renewal of spermatogonial stem cells (By similarity). Its presence in oocytes suggests that it may participate in similar functions during oogenesis in females (By similarity). Acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and govern the methylation and subsequent repression of transposons (By similarity). Directly binds piRNAs, a class of 24 to 30 nucleotide RNAs that are generated by a Dicer-independent mechanism and are primarily derived from transposons and other repeated sequence elements (By similarity). Associates with primary piRNAs in the cytoplasm and is required for PIWIL4/MIWI2 nuclear localization and association with secondary piRNAs antisense (By similarity). Plays a key role in the piRNA amplification loop, also named ping-pong amplification cycle, by acting as a slicer-competent piRNA endoribonuclease that cleaves primary piRNAs, which are then loaded onto slicer-incompetent PIWIL4 (By similarity). Besides their function in transposable elements repression, piRNAs are probably involved in other processes during meiosis such as translation regulation (By similarity). Indirectly modulates expression of genes such as PDGFRB, SLC2A1, ITGA6, GJA7, THY1, CD9 and STRA8 (By similarity). Inhibits tumor cell growth when repressed (By similarity). When overexpressed, acts as an oncogene by inhibition of apoptosis and promotion of proliferation in tumors (PubMed:16377660).

Enzyme Numbers (IUBMB) for PIWIL2 Gene

Gene Ontology (GO) - Molecular Function for PIWIL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003723 RNA binding IEA --
GO:0003729 mRNA binding IEA --
GO:0004521 endoribonuclease activity ISS --
GO:0034584 piRNA binding ISS --
genes like me logo Genes that share ontologies with PIWIL2: view
genes like me logo Genes that share phenotypes with PIWIL2: view

Animal Models for PIWIL2 Gene

MGI Knock Outs for PIWIL2:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PIWIL2 Gene

Localization for PIWIL2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PIWIL2 Gene

Cytoplasm. Note=Present in chromatoid body. Probable component of the meiotic nuage, also named P granule, a germ-cell-specific organelle required to repress transposon activity during meiosis. {ECO:0000250 UniProtKB:Q8CDG1}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PIWIL2 gene
Compartment Confidence
nucleus 2
cytosol 1

Gene Ontology (GO) - Cellular Components for PIWIL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm ISS --
GO:0005844 polysome IEA --
GO:0010370 perinucleolar chromocenter IEA --
GO:0033391 chromatoid body ISS --
GO:0043186 P granule ISS --
genes like me logo Genes that share ontologies with PIWIL2: view

Pathways & Interactions for PIWIL2 Gene

genes like me logo Genes that share pathways with PIWIL2: view

Pathways by source for PIWIL2 Gene

1 KEGG pathway for PIWIL2 Gene

Gene Ontology (GO) - Biological Process for PIWIL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000966 RNA 5-end processing ISS --
GO:0006417 regulation of translation IEA --
GO:0007275 multicellular organism development IEA --
GO:0007283 spermatogenesis ISS --
GO:0010529 negative regulation of transposition ISS --
genes like me logo Genes that share ontologies with PIWIL2: view

No data available for SIGNOR curated interactions for PIWIL2 Gene

Transcripts for PIWIL2 Gene

Unigene Clusters for PIWIL2 Gene

Piwi-like RNA-mediated gene silencing 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PIWIL2 Gene

No ASD Table

Relevant External Links for PIWIL2 Gene

GeneLoc Exon Structure for
PIWIL2
ECgene alternative splicing isoforms for
PIWIL2

Expression for PIWIL2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PIWIL2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PIWIL2 Gene

This gene is overexpressed in Testis (x15.7).

Protein differential expression in normal tissues from HIPED for PIWIL2 Gene

This gene is overexpressed in Ovary (43.1) and Testis (19.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PIWIL2 Gene



Protein tissue co-expression partners for PIWIL2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PIWIL2 Gene:

PIWIL2

SOURCE GeneReport for Unigene cluster for PIWIL2 Gene:

Hs.614809

mRNA Expression by UniProt/SwissProt for PIWIL2 Gene:

Q8TC59-PIWL2_HUMAN
Tissue specificity: Expressed in adult testis and in most tumors.

Evidence on tissue expression from TISSUES for PIWIL2 Gene

  • Liver(2.1)
genes like me logo Genes that share expression patterns with PIWIL2: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for PIWIL2 Gene

Orthologs for PIWIL2 Gene

This gene was present in the common ancestor of animals.

Orthologs for PIWIL2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PIWIL2 34 35
  • 99.52 (n)
oppossum
(Monodelphis domestica)
Mammalia PIWIL2 35
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PIWIL2 34 35
  • 89.85 (n)
cow
(Bos Taurus)
Mammalia PIWIL2 34 35
  • 89.16 (n)
rat
(Rattus norvegicus)
Mammalia Piwil2 34
  • 85.89 (n)
mouse
(Mus musculus)
Mammalia Piwil2 34 16 35
  • 85.68 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PIWIL2 35
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves PIWIL2 35
  • 52 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PIWIL2 35
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia piwil2 34
  • 63.87 (n)
zebrafish
(Danio rerio)
Actinopterygii piwil2 34 35
  • 62.36 (n)
fruit fly
(Drosophila melanogaster)
Insecta AGO3 34 35
  • 48.35 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008862 34
  • 46.31 (n)
worm
(Caenorhabditis elegans)
Secernentea prg-2 35
  • 30 (a)
ManyToMany
M03D4.6 35
  • 19 (a)
ManyToMany
ZK218.8 35
  • 19 (a)
ManyToMany
alg-2 35
  • 18 (a)
ManyToMany
alg-1 35
  • 17 (a)
ManyToMany
hpo-24 35
  • 17 (a)
ManyToMany
T22B3.2 35
  • 17 (a)
ManyToMany
tag-76 35
  • 17 (a)
ManyToMany
ppw-1 35
  • 16 (a)
ManyToMany
sago-2 35
  • 16 (a)
ManyToMany
C04F12.1 35
  • 15 (a)
ManyToMany
sago-1 35
  • 15 (a)
ManyToMany
wago-1 35
  • 15 (a)
ManyToMany
wago-2 35
  • 15 (a)
ManyToMany
C14B1.7 35
  • 14 (a)
ManyToMany
wago-10 35
  • 14 (a)
ManyToMany
wago-4 35
  • 14 (a)
ManyToMany
wago-5 35
  • 14 (a)
ManyToMany
csr-1 35
  • 13 (a)
ManyToMany
hrde-1 35
  • 13 (a)
ManyToMany
nrde-3 35
  • 13 (a)
ManyToMany
ppw-2 35
  • 13 (a)
ManyToMany
wago-11 35
  • 13 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 46 (a)
OneToOne
Species where no ortholog for PIWIL2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PIWIL2 Gene

ENSEMBL:
Gene Tree for PIWIL2 (if available)
TreeFam:
Gene Tree for PIWIL2 (if available)

Paralogs for PIWIL2 Gene

Paralogs for PIWIL2 Gene

(3) SIMAP similar genes for PIWIL2 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with PIWIL2: view

Variants for PIWIL2 Gene

Sequence variations from dbSNP and Humsavar for PIWIL2 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs1000020345 -- 22,273,462(+) GTGGA(C/T)AGAAT intron-variant, upstream-variant-2KB
rs1000021462 -- 22,307,711(+) CGAAC(A/G)CCTGG intron-variant
rs1000046516 -- 22,312,859(+) TGATC(C/T)CAAAC intron-variant
rs1000089179 -- 22,278,216(+) AGTCA(C/T)CCTCA intron-variant
rs1000117142 -- 22,326,637(+) ATGTT(C/T)TCAAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PIWIL2 Gene

Variant ID Type Subtype PubMed ID
esv22246 CNV loss 19812545
esv2669515 CNV deletion 23128226
esv2759604 CNV loss 17122850
esv2764071 CNV gain 21179565
esv3409921 CNV insertion 20981092
esv3543210 CNV deletion 23714750
esv3616606 CNV loss 21293372
esv3616607 CNV loss 21293372
nsv518646 CNV gain 19592680
nsv6115 CNV insertion 18451855
nsv831264 CNV gain+loss 17160897
nsv831265 CNV loss 17160897
nsv831266 CNV loss 17160897

Variation tolerance for PIWIL2 Gene

Residual Variation Intolerance Score: 13.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.63; 56.63% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PIWIL2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PIWIL2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PIWIL2 Gene

Disorders for PIWIL2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for PIWIL2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
caplan's syndrome
  • caplan syndrome
acute cor pulmonale
acute pulmonary heart disease
  • acute pulmonary heart disease nos
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for PIWIL2

Genetic Association Database (GAD)
PIWIL2
Human Genome Epidemiology (HuGE) Navigator
PIWIL2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PIWIL2
genes like me logo Genes that share disorders with PIWIL2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PIWIL2 Gene

Publications for PIWIL2 Gene

  1. Identification of eight members of the Argonaute family in the human genome. (PMID: 12906857) Sasaki T. … Shimizu N. (Genomics 2003) 2 3 4 64
  2. Structural basis for piRNA 2'-O-methylated 3'-end recognition by Piwi PAZ (Piwi/Argonaute/Zwille) domains. (PMID: 21193640) Tian Y. … Patel D.J. (Proc. Natl. Acad. Sci. U.S.A. 2011) 3 4 64
  3. Genetic variants in Piwi-interacting RNA pathway genes confer susceptibility to spermatogenic failure in a Chinese population. (PMID: 20940137) Gu A. … Wang X. (Hum. Reprod. 2010) 3 46 64
  4. Absence of PIWIL2 (HILI) expression in human bladder cancer cell lines and tissues. (PMID: 19683485) Nikpour P. … Mowla S.J. (Cancer Epidemiol 2009) 3 22 64
  5. Stem-cell protein Piwil2 is widely expressed in tumors and inhibits apoptosis through activation of Stat3/Bcl-XL pathway. (PMID: 16377660) Lee J.H. … Nayernia K. (Hum. Mol. Genet. 2006) 3 4 64

Products for PIWIL2 Gene

Sources for PIWIL2 Gene

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