PRB2 proline rich protein BstNI subfamily 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PRB2provided by HGNC
Official Full Name: proline rich protein BstNI subfamily 2provided by HGNC
Primary source: HGNC:HGNC:9338
See related: Ensembl:ENSG00000121335 MIM:168810; AllianceGenome:HGNC:9338
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: Ps; cP7; IB-9; PRPPRB1
Summary: This gene encodes a member of the heterogeneous family of basic, proline-rich, human salivary glycoproteins. The encoded preproprotein undergoes proteolytic processing to generate one or more mature isoforms before secretion from the parotid glands. Multiple alleles of this gene exhibiting variations in the length of the tandem repeats, polymorphic cleavage sites and polymorphic stop codons have been identified. This gene is located in a cluster of closely related salivary proline-rich proteins on chromosome 12. [provided by RefSeq, May 2023]
Expression: Restricted expression toward salivary gland (RPKM 6077.8) See more
Orthologs: all
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Genomic context

Location:: 12p13.2

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (11391540..11395567, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (11221005..11264753, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (11544474..11548501, complement)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

pRb2/p130 cytoplasmic delocalization can lead to cell cycle deregulation
Title: pRb2/p130 localizes to the cytoplasm in diffuse gastric cancer.
Our studies suggested that pRb2/p130-complexes bind to the ER-alpha promoter and could be involved in the transcriptional regulation of the ER-alpha gene by altering chromatin structure and DNA methylation pattern.
Title: The regulation of ER-alpha transcription by pRb2/p130 in breast cancer.
Ezh2 competes with HDAC1 in binding to pRb2/p130, disrupting their occupancy on the cyclin A promoter.
Title: Ezh2 reduces the ability of HDAC1-dependent pRb2/p130 transcriptional repression of cyclin A.

Submit: New GeneRIF Correction

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
A genome-wide association study of overall survival in pancreatic cancer patients treated with gemcitabine in CALGB 80303. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of chronic periodontitis in a general German 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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D12S1808 (e-PCR)
- UniSTS:73244

RH71399 (e-PCR)
- UniSTS:70967

RH66398 (e-PCR)
- UniSTS:74852

G41283 (e-PCR)
- UniSTS:47271

RH39754 (e-PCR)
- UniSTS:88302

NoName (e-PCR)
- UniSTS:483318

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Component	Evidence Code	Pubs
located_in extracellular region	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: basic salivary proline-rich protein 2

Names: Basic proline-rich peptide P-E; con1 glycoprotein; proline-rich protein BstNI, subfamily-2 (parotid size variant); salivary proline-rich protein 2

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.