VPREB3 V-set pre-B cell surrogate light chain 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: VPREB3provided by HGNC
Official Full Name: V-set pre-B cell surrogate light chain 3provided by HGNC
Primary source: HGNC:HGNC:12710
See related: Ensembl:ENSG00000128218 IMGT/GENE-DB:VPREB3; MIM:605017; AllianceGenome:HGNC:12710
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: 8HS20; N27C7-2
Summary: The protein encoded by this gene is the human ortholog of the mouse VpreB3 (8HS20) protein, is thought to be involved in B-cell maturation, and may play a role in assembly of the pre-B cell receptor (pre-BCR). While the role of this protein in B-cell development has not yet been elucidated, studies with the chicken ortholog of this protein have found that when overexpressed, this protein localizes to the endoplasmic reticulum. The mouse ortholog of this protein has been shown to associate with membrane mu heavy chains early in the course of pre-B cell receptor biosynthesis. Expression of this gene has been observed in some lymphomas. [provided by RefSeq, Apr 2015]
Expression: Biased expression in lymph node (RPKM 35.6), spleen (RPKM 23.3) and 5 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 22q11.23; 22q11

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (23752743..23754425, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (24199936..24201618, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (24094930..24096612, complement)

Chromosome 22 - NC_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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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 possible role for VPREB3 in aldosterone biosynthesis.
Title: Pre-B Lymphocyte Protein 3 (VPREB3) Expression in the Adrenal Cortex: Precedent for non-Immunological Roles in Normal and Neoplastic Human Tissues.
levels of VPREB3 mRNA in aldosterone-producing adenomas directly correlate to plasma aldosterone concentrations in peripheral blood of respective patients
Title: Pre-B Lymphocyte Protein 3 (VPREB3) Expression in the Adrenal Cortex: Precedent for non-Immunological Roles in Normal and Neoplastic Human Tissues.
mouse VpreB3 associates with mu heavy chains early in pre-B cell receptor biosynthesis
Title: A novel gene product associated with mu chains in immature B cells.
VpreB3 may play a role in the regulation of the maturation and secretion of free IgLC in chicken B cells
Title: Binding of free immunoglobulin light chains to VpreB3 inhibits their maturation and secretion in chicken B cells.
the combined immunohistochemical detection of VPREB3 and ID3 is applicable to the routine diagnostic in case of mature aggressive B-cell lymphomas.
Title: The combined expression of VPREB3 and ID3 represents a new helpful tool for the routine diagnosis of mature aggressive B-cell lymphomas.
Data show that the absence of VpreB3 is virtually always associated with wild-type c-MYC alleles.
Title: The pre-B-cell receptor associated protein VpreB3 is a useful diagnostic marker for identifying c-MYC translocated lymphomas.
the present study confirms the co-existence of surrogate lambda and kappa receptors that are proposed to work in concert to promote B lymphocyte maturation.
Title: Assembly of the kappa preB receptor requires a V kappa-like protein encoded by a germline transcript.

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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

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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Gene Ontology Provided by GOA

Process	Evidence Code	Pubs
involved_in immune response	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in endoplasmic reticulum	NAS Non-traceable Author Statement more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
part_of immunoglobulin complex	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: pre-B lymphocyte protein 3

Names: pre-B lymphocyte 3; pre-B lymphocyte gene 3

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.