PA2G4 proliferation-associated 2G4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PA2G4provided by HGNC
Official Full Name: proliferation-associated 2G4provided by HGNC
Primary source: HGNC:HGNC:8550
See related: Ensembl:ENSG00000170515 MIM:602145; AllianceGenome:HGNC:8550
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: EBP1; HG4-1; ITAF45; p38-2G4
Summary: This gene encodes an RNA-binding protein that is involved in growth regulation. This protein is present in pre-ribosomal ribonucleoprotein complexes and may be involved in ribosome assembly and the regulation of intermediate and late steps of rRNA processing. This protein can interact with the cytoplasmic domain of the ErbB3 receptor and may contribute to transducing growth regulatory signals. This protein is also a transcriptional co-repressor of androgen receptor-regulated genes and other cell cycle regulatory genes through its interactions with histone deacetylases. This protein has been implicated in growth inhibition and the induction of differentiation of human cancer cells. Six pseudogenes, located on chromosomes 3, 6, 9, 18, 20 and X, have been identified. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in skin (RPKM 37.0), esophagus (RPKM 35.3) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12q13.2

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (56104559..56113910)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (56072163..56081516)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (56498343..56507694)

Chromosome 12 - NC_000012.12 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 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?

Orthogonal proteogenomic analysis identifies the druggable PA2G4-MYC axis in 3q26 AML.
Title: Orthogonal proteogenomic analysis identifies the druggable PA2G4-MYC axis in 3q26 AML.
LINC00173 facilitates tumor progression by stimulating RAB1B-mediated PA2G4 and SDF4 secretion in nasopharyngeal carcinoma.
Title: LINC00173 facilitates tumor progression by stimulating RAB1B-mediated PA2G4 and SDF4 secretion in nasopharyngeal carcinoma.
Loci on chromosome 12q13.2 encompassing ERBB3, PA2G4 and RAB5B are associated with polycystic ovary syndrome.
Title: Loci on chromosome 12q13.2 encompassing ERBB3, PA2G4 and RAB5B are associated with polycystic ovary syndrome.
Increased PA2G4 Expression Is an Unfavorable Factor in Nasopharyngeal Carcinoma.
Title: Increased PA2G4 Expression Is an Unfavorable Factor in Nasopharyngeal Carcinoma.
EBP1 regulates Suv39H1 stability via the ubiquitin-proteasome system in neural development.
Title: EBP1 regulates Suv39H1 stability via the ubiquitin-proteasome system in neural development.
Progression signature underlies clonal evolution and dissemination of multiple myeloma.
Title: Progression signature underlies clonal evolution and dissemination of multiple myeloma.
HER2-intronic miR-4728-5p facilitates HER2 expression and accelerates cell proliferation and migration by targeting EBP1 in breast cancer.
Title: HER2-intronic miR-4728-5p facilitates HER2 expression and accelerates cell proliferation and migration by targeting EBP1 in breast cancer.
Somatic Mutations and Intratumoral Heterogeneity of Cancer-Related Genes NLK, YY1 and PA2G4 in Gastric and Colorectal Cancers.
Title: Somatic Mutations and Intratumoral Heterogeneity of Cancer-Related Genes NLK, YY1 and PA2G4 in Gastric and Colorectal Cancers.
Ebp1 p48 promotes oncogenic properties in hepatocellular carcinoma through p38 MAPK/HIF1alpha activation and p53 downregulation.
Title: Ebp1 p48 promotes oncogenic properties in hepatocellular carcinoma through p38 MAPK/HIF1α activation and p53 downregulation.
A structural view of PA2G4 isoforms with opposing functions in cancer.
Title: A structural view of PA2G4 isoforms with opposing functions in cancer.

Submit: New GeneRIF Correction See all GeneRIFs (58)

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
Association analyses identify three susceptibility Loci for vitiligo in the Chinese Han population. 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)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Vpr	vpr	HIV-1 Vpr downregulates proliferation-associated protein 2G4 (PA2G4) and upregulates p53 in glioblastoma U87MG cells	PubMed
retropepsin	gag-pol	Positional proteomics analysis identifies the cleavage of human proliferation-associated 2G4, 38kDa (PA2G4) at amino acid residues 346-347 by the HIV-1 protease	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH80204 (e-PCR)
- UniSTS:84273

WI-16415 (e-PCR)
- UniSTS:75

RH79880 (e-PCR)
- UniSTS:87899

RK1196_1197 (e-PCR)
- UniSTS:49271

RH48706 (e-PCR)
- UniSTS:89729

STS-R87726 (e-PCR)
- UniSTS:16543

D12S1388E (e-PCR)
- UniSTS:153779

MARC_9801-9802:996688619:1 (e-PCR)
- UniSTS:270004

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	PubMed
enables nucleic acid binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transcription corepressor activity	IDA Inferred from Direct Assay more info	PubMed
enables ubiquitin protein ligase binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within negative regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of apoptotic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in rRNA processing	IEA Inferred from Electronic Annotation more info
involved_in regulation of translation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in azurophil granule lumen	TAS Traceable Author Statement more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in membrane	HDA more info	PubMed
located_in nucleolus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
part_of ribonucleoprotein complex	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: proliferation-associated protein 2G4

Names: ErbB-3 binding protein 1; ErbB-3 receptor binding protein; ErbB3-binding protein Ebp1; IRES-specific cellular transacting factor 45; cell cycle protein p38-2G4 homolog; erbB3-binding protein 1; proliferation-associated 2G4, 38kD; proliferation-associated 2G4, 38kDa

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.