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, Ja... See more...

Aliases for PLP2 Gene

Aliases for PLP2 Gene

  • Proteolipid Protein 2 2 3 4 5
  • A4 2 3 4
  • Proteolipid Protein 2 (Colonic Epithelium-Enriched) 2 3
  • A4 Differentiation-Dependent Protein 2 3
  • Differentiation-Dependent Protein A4 3 4
  • Intestinal Membrane A4 Protein 3 4
  • MGC126187 2
  • A4-LSB 2
  • A4LSB 3
  • PLP2 5

External Ids for PLP2 Gene

Previous GeneCards Identifiers for PLP2 Gene

  • GC0XP047811
  • GC0XP047269
  • GC0XP048054
  • GC0XP048784
  • GC0XP048915
  • GC0XP049037
  • GC0XP046685

Summaries for PLP2 Gene

Entrez Gene Summary for PLP2 Gene

  • 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]

GeneCards Summary for PLP2 Gene

PLP2 (Proteolipid Protein 2) is a Protein Coding gene. Diseases associated with PLP2 include Croup and Crisponi/Cold-Induced Sweating Syndrome 1. Gene Ontology (GO) annotations related to this gene include ion transmembrane transporter activity and chemokine binding. An important paralog of this gene is CMTM5.

UniProtKB/Swiss-Prot Summary for PLP2 Gene

  • May play a role in cell differentiation in the intestinal epithelium.

Gene Wiki entry for PLP2 Gene

Additional gene information for PLP2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PLP2 Gene

Genomics for PLP2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PLP2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PLP2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PLP2

Top Transcription factor binding sites by QIAGEN in the PLP2 gene promoter:
  • ATF6
  • Bach1
  • E47
  • ER-alpha
  • HEN1
  • RORalpha1
  • Tal-1
  • Tal-1beta
  • YY1

Genomic Locations for PLP2 Gene

Genomic Locations for PLP2 Gene
chrX:49,171,898-49,175,235
(GRCh38/hg38)
Size:
3,338 bases
Orientation:
Plus strand
chrX:49,028,184-49,031,588
(GRCh37/hg19)
Size:
3,405 bases
Orientation:
Plus strand

Genomic View for PLP2 Gene

Genes around PLP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PLP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PLP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PLP2 Gene

Proteins for PLP2 Gene

  • Protein details for PLP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q04941-PLP2_HUMAN
    Recommended name:
    Proteolipid protein 2
    Protein Accession:
    Q04941
    Secondary Accessions:
    • A6NDT7
    • Q32MM8

    Protein attributes for PLP2 Gene

    Size:
    152 amino acids
    Molecular mass:
    16691 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for PLP2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PLP2 Gene

Post-translational modifications for PLP2 Gene

  • Glycosylation at Asn18, Asn108, Thr141, and Thr145
  • Modification sites at PhosphoSitePlus

Other Protein References for PLP2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PLP2 Gene

Domains & Families for PLP2 Gene

Gene Families for PLP2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Transporters

Protein Domains for PLP2 Gene

InterPro:
Blocks:
  • Marvel
ProtoNet:

Suggested Antigen Peptide Sequences for PLP2 Gene

GenScript: Design optimal peptide antigens:
  • Intestinal membrane A4 protein (PLP2_HUMAN)
genes like me logo Genes that share domains with PLP2: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for PLP2 Gene

Function for PLP2 Gene

Molecular function for PLP2 Gene

UniProtKB/Swiss-Prot Function:
May play a role in cell differentiation in the intestinal epithelium.
GENATLAS Biochemistry:
proteolipid protein 2,50kDa,differentially expressed in colonic epithelial cell lines

Gene Ontology (GO) - Molecular Function for PLP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 15474493
GO:0015075 ion transmembrane transporter activity TAS 9124532
GO:0019956 chemokine binding IPI 15474493
genes like me logo Genes that share ontologies with PLP2: view
genes like me logo Genes that share phenotypes with PLP2: view

Animal Models for PLP2 Gene

MGI Knock Outs for PLP2:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PLP2

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PLP2 Gene

Localization for PLP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PLP2 Gene

Membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PLP2 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 4
extracellular 2
cytoskeleton 2
nucleus 2
cytosol 2
mitochondrion 1
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for PLP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum TAS 9124532
GO:0005789 endoplasmic reticulum membrane TAS 9124532
GO:0005886 plasma membrane IDA 15474493
GO:0016020 membrane TAS 9124532
GO:0016021 integral component of membrane IBA 21873635
genes like me logo Genes that share ontologies with PLP2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PLP2 Gene

Pathways & Interactions for PLP2 Gene

PathCards logo

SuperPathways for PLP2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PLP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport TAS 9124532
GO:0006935 chemotaxis NAS 15474493
GO:0019221 cytokine-mediated signaling pathway NAS 15474493
GO:0034220 ion transmembrane transport IEA --
genes like me logo Genes that share ontologies with PLP2: view

No data available for Pathways by source and SIGNOR curated interactions for PLP2 Gene

Drugs & Compounds for PLP2 Gene

(1) Drugs for PLP2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with PLP2: view

Transcripts for PLP2 Gene

mRNA/cDNA for PLP2 Gene

1 REFSEQ mRNAs :
3 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PLP2

Alternative Splicing Database (ASD) splice patterns (SP) for PLP2 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6a · 6b
SP1: - -
SP2:
SP3:
SP4:

Relevant External Links for PLP2 Gene

GeneLoc Exon Structure for
PLP2

Expression for PLP2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PLP2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PLP2 Gene

This gene is overexpressed in Whole Blood (x9.1).

Protein differential expression in normal tissues from HIPED for PLP2 Gene

This gene is overexpressed in Nasal epithelium (24.7) and Bone (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PLP2 Gene



Protein tissue co-expression partners for PLP2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PLP2

SOURCE GeneReport for Unigene cluster for PLP2 Gene:

Hs.77422

mRNA Expression by UniProt/SwissProt for PLP2 Gene:

Q04941-PLP2_HUMAN
Tissue specificity: Enriched in colonic mucosa. The expression of A4 follows a gradient along the crypto-villus axis with the most abundant message occurring in the lower half of the crypt.

Evidence on tissue expression from TISSUES for PLP2 Gene

  • Stomach(4.4)
  • Lung(3.9)
  • Intestine(3.2)
  • Skin(3.2)
  • Kidney(3.1)
  • Muscle(3)
  • Heart(2.9)
  • Nervous system(2.9)
  • Liver(2.9)
  • Spleen(2.9)
  • Blood(2.8)
  • Bone marrow(2.7)
  • Pancreas(2.7)
  • Lymph node(2.4)
  • Adrenal gland(2.3)
  • Bone(2.2)
genes like me logo Genes that share expression patterns with PLP2: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for PLP2 Gene

Orthologs for PLP2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PLP2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PLP2 31
  • 99 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia PLP2 30
  • 91.39 (n)
-- 31
  • 81 (a)
OneToMany
-- 31
  • 66 (a)
OneToMany
Cow
(Bos Taurus)
Mammalia PLP2 30 31
  • 87.5 (n)
OneToMany
MGC133647 31
  • 70 (a)
OneToMany
Rat
(Rattus norvegicus)
Mammalia Plp2 30
  • 85.43 (n)
Mouse
(Mus musculus)
Mammalia Plp2 30 17 31
  • 84.33 (n)
OneToMany
Gm6169 31
  • 80 (a)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia PLP2 31
  • 54 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PLP2 31
  • 44 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia plp2 30
  • 53.11 (n)
Zebrafish
(Danio rerio)
Actinopterygii plp2 30 31
  • 55.78 (n)
OneToOne
Species where no ortholog for PLP2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for PLP2 Gene

ENSEMBL:
Gene Tree for PLP2 (if available)
TreeFam:
Gene Tree for PLP2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PLP2: view image

Paralogs for PLP2 Gene

Pseudogenes.org Pseudogenes for PLP2 Gene

genes like me logo Genes that share paralogs with PLP2: view

Variants for PLP2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PLP2 Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
773101 Benign: not provided 49,172,016(+) C/T MISSENSE_VARIANT
rs1802969 - p.Ala91Ser

Additional dbSNP identifiers (rs#s) for PLP2 Gene

Structural Variations from Database of Genomic Variants (DGV) for PLP2 Gene

Variant ID Type Subtype PubMed ID
esv32909 CNV gain+loss 17666407
nsv205 OTHER inversion 15895083
nsv528292 CNV gain 19592680
nsv7442 OTHER inversion 18451855

Variation tolerance for PLP2 Gene

Residual Variation Intolerance Score: 78.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.90; 18.80% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PLP2 Gene

Human Gene Mutation Database (HGMD)
PLP2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PLP2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PLP2 Gene

Disorders for PLP2 Gene

MalaCards: The human disease database

(5) MalaCards diseases for PLP2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
croup
  • acute laryngotracheobronchitis
crisponi/cold-induced sweating syndrome 1
  • ciss1
coronavirus infectious disease
  • coronavirus infection
noonan syndrome 2
  • ns2
neuronal ceroid lipofuscinosis
  • batten disease
- elite association - COSMIC cancer census association via MalaCards
Search PLP2 in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with PLP2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PLP2 Gene

Publications for PLP2 Gene

  1. Isolation and characterization of a differentiation-dependent gene in the human colonic cell line HT29-18. (PMID: 8470895) Oliva MM … Yang VW (Archives of biochemistry and biophysics 1993) 2 3 4
  2. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K … Sugano S (Genome research 2006) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  4. PLP2/A4 interacts with CCR1 and stimulates migration of CCR1-expressing HOS cells. (PMID: 15474493) Lee SM … Kim J (Biochemical and biophysical research communications 2004) 3 23
  5. Sequence-based exon prediction around the synaptophysin locus reveals a gene-rich area containing novel genes in human proximal Xp. (PMID: 9344658) Fisher SE … Craig IW (Genomics 1997) 3 4

Products for PLP2 Gene

Sources for PLP2 Gene