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Aliases for PLP2 Gene

Aliases for PLP2 Gene

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

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 Choline Deficiency Disease and Neuronal Ceroid Lipofuscinosis. 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 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 , fRNAdb sequence ontologies and piRNA Summary for PLP2 Gene

Genomics for PLP2 Gene

GeneHancer (GH) Regulatory Elements for PLP2 Gene

Promoters and enhancers for PLP2 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ049163 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 655 -5.9 -5851 5.6 HDGF PKNOX1 SMAD1 SIN3A ZNF2 YY1 POLR2B ZNF213 ZNF207 ZNF143 PLP2 ENSG00000279422 FTSJ1 ENSG00000204620 ENSG00000270012 HDAC6 CACNA1F GC0XP049169 MAGIX
GH0XJ049171 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 655.1 +1.0 1035 3.3 PKNOX1 SIN3A GLI4 ZNF2 POLR2B GLIS2 ZFP91 KLF7 FOS SP3 PLP2 ENSG00000270012 ENSG00000204620 RBM3 FTSJ1 GC0XP049169 PRICKLE3
GH0XJ048916 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11.7 -252.1 -252072 5.6 HNRNPUL1 PKNOX1 FOXA2 SMAD1 ARID4B SIN3A ZNF2 ZBTB7B YY1 POLR2B PIM2 ENSG00000204620 FTSJ1 ENSG00000270012 RBM3 PQBP1 CCDC22 ZNF182 PLP2 OTUD5
GH0XJ048799 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 11.9 -370.3 -370328 4 HDGF PKNOX1 ARNT SIN3A DMAP1 ZNF2 ZBTB7B YY1 POLR2B ZNF766 HDAC6 CCDC22 PRICKLE3 ENSG00000270012 ERAS ENSG00000204620 ZNF81 PLP2 FTSJ1 RBM3
GH0XJ048573 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 11.8 -596.9 -596851 3.4 HDGF PKNOX1 SMAD1 ARNT ARID4B NEUROD1 SIN3A DMAP1 ZNF2 YY1 ENSG00000204620 RBM3 ZNF182 ENSG00000228343 FTSJ1 ZNF81 PRICKLE3 PQBP1 ENSG00000270012 HDAC6
- 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 UCSC Golden Path with GeneCards custom track

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

Genomic Locations for PLP2 Gene

Genomic Locations for PLP2 Gene
3,403 bases
Plus strand
3,405 bases
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:
    Recommended name:
    Proteolipid protein 2
    Protein Accession:
    Secondary Accessions:
    • A6NDT7
    • Q32MM8

    Protein attributes for PLP2 Gene

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

    Alternative splice isoforms for PLP2 Gene


neXtProt entry for PLP2 Gene

Post-translational modifications for PLP2 Gene

  • Glycosylation at Thr145, Thr141, Asn108, and isoforms=218
  • 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

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

Protein Domains for PLP2 Gene


Suggested Antigen Peptide Sequences for PLP2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

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

No data available for 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

Clone Products

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

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
extracellular 5
endoplasmic reticulum 5

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 --
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

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 :
(2) Additional mRNA sequences :
(474) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for PLP2 Gene

Proteolipid protein 2 (colonic epithelium-enriched):
Representative Sequences:

Clone Products

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

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

Relevant External Links for PLP2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PLP2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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

NURSA nuclear receptor signaling pathways regulating expression of PLP2 Gene:


SOURCE GeneReport for Unigene cluster for PLP2 Gene:


mRNA Expression by UniProt/SwissProt for PLP2 Gene:

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(4.2)
  • Lung(3.5)
  • Intestine(2.5)
  • Liver(2.4)
  • Muscle(2.4)
  • Heart(2.3)
  • Skin(2.3)
  • Pancreas(2.2)
  • Bone marrow(2.1)
  • Spleen(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
(Pan troglodytes)
Mammalia PLP2 34
  • 99 (a)
(Canis familiaris)
Mammalia PLP2 33
  • 91.39 (n)
-- 34
  • 81 (a)
-- 34
  • 66 (a)
(Bos Taurus)
Mammalia PLP2 34 33
  • 87.5 (n)
MGC133647 34
  • 70 (a)
(Rattus norvegicus)
Mammalia Plp2 33
  • 85.43 (n)
(Mus musculus)
Mammalia Plp2 16 34 33
  • 84.33 (n)
Gm6169 34
  • 80 (a)
(Ornithorhynchus anatinus)
Mammalia PLP2 34
  • 54 (a)
(Anolis carolinensis)
Reptilia PLP2 34
  • 44 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia plp2 33
  • 53.11 (n)
(Danio rerio)
Actinopterygii plp2 34 33
  • 55.78 (n)
Species where no ortholog for PLP2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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

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

Paralogs for PLP2 Gene

Paralogs for PLP2 Gene Pseudogenes for PLP2 Gene

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

Variants for PLP2 Gene

Sequence variations from dbSNP and Humsavar for PLP2 Gene

SNP ID Clin Chr 0X pos Variation AA Info Type
rs1000441232 -- 49,172,441(+) G/A intron_variant
rs1000822608 -- 49,174,266(+) C/A intron_variant
rs1001940945 -- 49,173,716(+) G/A intron_variant
rs1004391357 -- 49,171,018(+) C/T upstream_transcript_variant
rs1004675270 -- 49,173,571(+) G/A intron_variant

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)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

(2) MalaCards diseases for PLP2 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
choline deficiency disease
  • choline deficiency
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

Additional Disease Information for PLP2

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 58
  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 58
  3. 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 22 58
  4. 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 58
  5. Colonic epithelium-enriched protein A4 is a proteolipid that exhibits ion channel characteristics. (PMID: 9124532) Breitwieser GE … Yang VW (The American journal of physiology 1997) 3 22 58

Products for PLP2 Gene

Sources for PLP2 Gene

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