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

Gene ID: 55124, updated on 8-Nov-2020

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
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

Genomic context

See PIWIL2 in Genome Data Viewer
Location:
8p21.3
Exon count:
25
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (22275314..22357568)
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 microRNA 320a 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

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

Associated conditions

Description Tests
Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
 
polysome binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
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 circadian rhythm IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of transposition ISS
Inferred from Sequence or Structural Similarity
more info
 
oogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
piRNA biosynthetic process 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
 
rhythmic process IEA
Inferred from Electronic Annotation
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 IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
dense body IEA
Inferred from Electronic Annotation
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
perinucleolar chromocenter IEA
Inferred from Electronic Annotation
more info
 
pi-body ISS
Inferred from Sequence or Structural Similarity
more info
 

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

NCBI Reference Sequences (RefSeq)

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_001135721.3NP_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
    Q8TC59
    UniProtKB/TrEMBL
    W0HK13
    Related
    ENSP00000406956.2, ENST00000454009.6
    Conserved Domains (3) 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
  2. NM_001330480.2NP_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_018068.5NP_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
    Q8TC59
    UniProtKB/TrEMBL
    W0HK13
    Related
    ENSP00000349208.6, ENST00000356766.11
    Conserved Domains (3) 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

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    22275314..22357568
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005273551.4XP_005273608.1  piwi-like protein 2 isoform X1

    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
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