PLP2 proteolipid protein 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PLP2provided by HGNC
Official Full Name: proteolipid protein 2provided by HGNC
Primary source: HGNC:HGNC:9087
See related: Ensembl:ENSG00000102007 MIM:300112; AllianceGenome:HGNC:9087
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: A4; A4LSB
Summary: This gene encodes an integral membrane protein that localizes to the endoplasmic reticulum in colonic epithelial cells. The encoded protein can multimerize and may function as an ion channel. A polymorphism in the promoter of this gene may be linked to an increased risk of X-linked cognitive disability. A pseudogene of this gene is found on chromosome 5. [provided by RefSeq, Jan 2010]
Expression: Ubiquitous expression in skin (RPKM 154.7), esophagus (RPKM 126.0) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: Xp11.23

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (49171898..49175235)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (48583646..48586985)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (49028245..49031584)

Chromosome X - NC_000023.11 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 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?

Reduced Proteolipid Protein 2 promotes endoplasmic reticulum stress-related apoptosis and increases drug sensitivity in acute myeloid leukemia.
Title: Reduced Proteolipid Protein 2 promotes endoplasmic reticulum stress-related apoptosis and increases drug sensitivity in acute myeloid leukemia.
Low Expression of A3C and PLP2 Indicating a Favorable Prognosis in Human Gliomas.
Title: Low Expression of A3C and PLP2 Indicating a Favorable Prognosis in Human Gliomas.
Structural basis of plp2-mediated cytoskeletal protein folding by TRiC/CCT.
Title: Structural basis of plp2-mediated cytoskeletal protein folding by TRiC/CCT.
PLP2-derived peptide Rb4 triggers PARP-1-mediated necrotic death in murine melanoma cells.
Title: PLP2-derived peptide Rb4 triggers PARP-1-mediated necrotic death in murine melanoma cells.
PLP2 drives collective cell migration via ZO-1-mediated cytoskeletal remodeling at the leading edge in human colorectal cancer cells.
Title: PLP2 drives collective cell migration via ZO-1-mediated cytoskeletal remodeling at the leading edge in human colorectal cancer cells.
CD45RO(-)CD8(+) T cell-derived exosomes restrict estrogen-driven endometrial cancer development via the ERbeta/miR-765/PLP2/Notch axis.
Title: CD45RO(-)CD8(+) T cell-derived exosomes restrict estrogen-driven endometrial cancer development via the ERβ/miR-765/PLP2/Notch axis.
Reduced expression of proteolipid protein 2 increases ER stress-induced apoptosis and autophagy in glioblastoma.
Title: Reduced expression of proteolipid protein 2 increases ER stress-induced apoptosis and autophagy in glioblastoma.
PLP2 Expression as a Prognostic and Therapeutic Indicator in High-Risk Multiple Myeloma.
Title: PLP2 Expression as a Prognostic and Therapeutic Indicator in High-Risk Multiple Myeloma.
MiR-765 functions as a tumour suppressor and eliminates lipids in clear cell renal cell carcinoma by downregulating PLP2.
Title: MiR-765 functions as a tumour suppressor and eliminates lipids in clear cell renal cell carcinoma by downregulating PLP2.
Up-regulation of miR-422a attenuated microsphere formation, proliferation and tumor formation of breast cancer stem cells via suppressing the PLP2 expression.
Title: MiR-422a weakened breast cancer stem cells properties by targeting PLP2.

Submit: New GeneRIF Correction See all GeneRIFs (16)

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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Markers

NoName (e-PCR)
- UniSTS:489728

DXS9735 (e-PCR)
- UniSTS:2405

STS-L09604 (e-PCR)
- UniSTS:10345

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables chemokine binding	IPI Inferred from Physical Interaction more info	PubMed
enables monoatomic ion transmembrane transporter activity	TAS Traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in chemotaxis	NAS Non-traceable Author Statement more info	PubMed
involved_in cytokine-mediated signaling pathway	NAS Non-traceable Author Statement more info	PubMed
involved_in monoatomic ion transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in monoatomic ion transport	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in endoplasmic reticulum	TAS Traceable Author Statement more info	PubMed
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info	PubMed
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: proteolipid protein 2

Names: A4 differentiation-dependent protein; differentiation-dependent protein A4; intestinal membrane A4 protein; proteolipid protein 2 (colonic epithelium-enriched)

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.