PIWIL4 piwi like RNA-mediated gene silencing 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PIWIL4provided by HGNC
Official Full Name: piwi like RNA-mediated gene silencing 4provided by HGNC
Primary source: HGNC:HGNC:18444
See related: Ensembl:ENSG00000134627 MIM:610315; AllianceGenome:HGNC:18444
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: HIWI2; MIWI2
Summary: PIWIL4 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: Broad expression in bone marrow (RPKM 9.2), testis (RPKM 8.7) and 19 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q21

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (94567368..94621421)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (94574415..94628468)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (94300534..94354587)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A noncanonical enzymatic function of PIWIL4 maintains genomic integrity and leukemic growth in AML.
Title: A noncanonical enzymatic function of PIWIL4 maintains genomic integrity and leukemic growth in AML.
HIWI2 induces G2/M cell cycle arrest and apoptosis in human fibrosarcoma via the ROS/DNA damage/p53 axis.
Title: HIWI2 induces G2/M cell cycle arrest and apoptosis in human fibrosarcoma via the ROS/DNA damage/p53 axis.
Role of PIWI-like 4 in modulating neuronal differentiation from human embryonal carcinoma cells.
Title: Role of PIWI-like 4 in modulating neuronal differentiation from human embryonal carcinoma cells.
PIWIL4 Maintains HIV-1 Latency by Enforcing Epigenetically Suppressive Modifications on the 5' Long Terminal Repeat.
Title: PIWIL4 Maintains HIV-1 Latency by Enforcing Epigenetically Suppressive Modifications on the 5' Long Terminal Repeat.
these findings revealed that Piwil4 is a novel regulator of ER signaling that could be targeted to inhibit breast cancer growth and migration.
Title: The role of 17β‑estradiol‑induced upregulation of Piwi‑like 4 in modulating gene expression and motility in breast cancer cells.
Results revealed that Piwil4 exhibits lower expression in the cell nucleus than in the cytoplasm. Along with nuclear location of PIWIL2, PIWIL4 expression is associated with worse prognosis of hepatocellular carcinoma.
Title: Co-expression of Piwil2/Piwil4 in nucleus indicates poor prognosis of hepatocellular carcinoma.
HIWI2 is aberrantly expressed in cells of the Retinoblastoma (RB) line (Y79) and silencing of HIWI2 downregulates OTX2, suggesting that HIWI2 might affects cell cycle and plays a role in the progression of RB.
Title: PIWI-like protein, HIWI2 is aberrantly expressed in retinoblastoma cells and affects cell-cycle potentially through OTX2.
data delineate MIWI2-dependent functions outside of the germline and demonstrate the presence of distinct subsets of airway multiciliated cells that can be discriminated by MIWI2 expression.
Title: Expression of Piwi protein MIWI2 defines a distinct population of multiciliated cells.
PIWIL2 and PIWIL4 genes expression in synovial fibroblasts of the rheumatoid arthritis patients.PIWIL4 does not regulate methylation or expression of LINE-1.
Title: Expression and Regulation of PIWIL-Proteins and PIWI-Interacting RNAs in Rheumatoid Arthritis.
study demonstrates the presence of PIWI-like proteins in somatic cells and the possible role of HIWI2 in preserving the functional integrity of epithelial cells probably by modulating the phosphorylation status of Akt.
Title: Possible role of HIWI2 in modulating tight junction proteins in retinal pigment epithelial cells through Akt signaling pathway.

Submit: New GeneRIF Correction See all GeneRIFs (23)

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
Does parental expressed emotion moderate genetic effects in ADHD? An exploration using a genome wide association scan. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-57612 (e-PCR)
- UniSTS:82966

RH94119 (e-PCR)
- UniSTS:86568

G02226 (e-PCR)
- UniSTS:29246

D11S3455 (e-PCR)
- UniSTS:152696

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA endonuclease activity	IBA Inferred from Biological aspect of Ancestor more info
NOT enables RNA endonuclease activity	ISS Inferred from Sequence or Structural Similarity 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

Process	Evidence Code	Pubs
involved_in cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in epithelial structure maintenance	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in meiotic cell cycle	IEA Inferred from Electronic Annotation more info
involved_in piRNA processing	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of translation	IEA Inferred from Electronic Annotation more info
involved_in regulatory ncRNA-mediated gene silencing	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_positive_effect retrotransposon silencing by heterochromatin formation	ISS Inferred from Sequence or Structural Similarity more info
involved_in secondary piRNA processing	ISS Inferred from Sequence or Structural Similarity more info
involved_in siRNA-mediated retrotransposon silencing by heterochromatin formation	ISS Inferred from Sequence or Structural Similarity 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

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
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 mitochondrion	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay 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 nucleus	ISS Inferred from Sequence or Structural Similarity more info
located_in piP-body	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: piwi-like protein 4

Names: piwi-like 4; testis tissue sperm-binding protein Li 85P

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)

NM_152431.3 → NP_689644.2 piwi-like protein 4

See identical proteins and their annotated locations for NP_689644.2

Status: VALIDATED

Source sequence(s)

AB079366, BC031060, DB091271

Consensus CDS

CCDS31656.1

UniProtKB/Swiss-Prot

B4DEG5, Q68CZ4, Q7Z3Z4, Q8N8G9, Q8N9V8, Q8NEH2

UniProtKB/TrEMBL

A0A140VKG8

Related

ENSP00000299001.6, ENST00000299001.11

Conserved Domains (2) summary

cd02845
Location:270 → 386

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:394 → 835

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 ...