Human Gene PLP2 (ENST00000376327.6) from GENCODE V44
  Description: Homo sapiens proteolipid protein 2 (PLP2), mRNA. (from RefSeq NM_002668)
RefSeq Summary (NM_002668): 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]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments.
Gencode Transcript: ENST00000376327.6
Gencode Gene: ENSG00000102007.11
Transcript (Including UTRs)
   Position: hg38 chrX:49,171,898-49,175,235 Size: 3,338 Total Exon Count: 5 Strand: +
Coding Region
   Position: hg38 chrX:49,172,001-49,174,694 Size: 2,694 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chrX:49,171,898-49,175,235)mRNA (may differ from genome)Protein (152 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: PLP2_HUMAN
DESCRIPTION: RecName: Full=Proteolipid protein 2; AltName: Full=Differentiation-dependent protein A4; AltName: Full=Intestinal membrane A4 protein;
FUNCTION: May play a role in cell differentiation in the intestinal epithelium.
INTERACTION: P32246:CCR1; NbExp=3; IntAct=EBI-608347, EBI-608322;
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
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.
SIMILARITY: Contains 1 MARVEL domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: PLP2
Diseases sorted by gene-association score: choline deficiency disease (5)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 192.53 RPKM in Whole Blood
Total median expression: 3031.60 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -29.10103-0.283 Picture PostScript Text
3' UTR -142.30541-0.263 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR008253 - Marvel
IPR021128 - MARVEL-like_dom

Pfam Domains:
PF01284 - Membrane-associating domain

ModBase Predicted Comparative 3D Structure on Q04941
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl   
Protein SequenceProtein SequenceProtein Sequence   
AlignmentAlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0015075 ion transmembrane transporter activity
GO:0019956 chemokine binding

Biological Process:
GO:0006811 ion transport
GO:0006935 chemotaxis
GO:0019221 cytokine-mediated signaling pathway
GO:0034220 ion transmembrane transport

Cellular Component:
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  LF211399 - JP 2014500723-A/18902: Polycomb-Associated Non-Coding RNAs.
MA446976 - JP 2018138019-A/18902: Polycomb-Associated Non-Coding RNAs.
LF209871 - JP 2014500723-A/17374: Polycomb-Associated Non-Coding RNAs.
MA445448 - JP 2018138019-A/17374: Polycomb-Associated Non-Coding RNAs.
L09604 - Homo sapiens differentiation-dependent A4 protein mRNA, complete cds.
BC109066 - Homo sapiens proteolipid protein 2 (colonic epithelium-enriched), mRNA (cDNA clone MGC:126187 IMAGE:40033888), complete cds.
LF379034 - JP 2014500723-A/186537: Polycomb-Associated Non-Coding RNAs.
MA614611 - JP 2018138019-A/186537: Polycomb-Associated Non-Coding RNAs.
AB591027 - Synthetic construct DNA, clone: pFN21AE1639, Homo sapiens PLP2 gene for proteolipid protein 2, without stop codon, in Flexi system.
KJ891828 - Synthetic construct Homo sapiens clone ccsbBroadEn_01222 PLP2 gene, encodes complete protein.
LF332367 - JP 2014500723-A/139870: Polycomb-Associated Non-Coding RNAs.
MA567944 - JP 2018138019-A/139870: Polycomb-Associated Non-Coding RNAs.
LF379031 - JP 2014500723-A/186534: Polycomb-Associated Non-Coding RNAs.
MA614608 - JP 2018138019-A/186534: Polycomb-Associated Non-Coding RNAs.
LF211397 - JP 2014500723-A/18900: Polycomb-Associated Non-Coding RNAs.
MA446974 - JP 2018138019-A/18900: Polycomb-Associated Non-Coding RNAs.
JD508489 - Sequence 489513 from Patent EP1572962.
JD290330 - Sequence 271354 from Patent EP1572962.
JD304347 - Sequence 285371 from Patent EP1572962.
JD383885 - Sequence 364909 from Patent EP1572962.
LF379030 - JP 2014500723-A/186533: Polycomb-Associated Non-Coding RNAs.
MA614607 - JP 2018138019-A/186533: Polycomb-Associated Non-Coding RNAs.
LF332365 - JP 2014500723-A/139868: Polycomb-Associated Non-Coding RNAs.
MA567942 - JP 2018138019-A/139868: Polycomb-Associated Non-Coding RNAs.
JD260228 - Sequence 241252 from Patent EP1572962.
JD154808 - Sequence 135832 from Patent EP1572962.
LF332364 - JP 2014500723-A/139867: Polycomb-Associated Non-Coding RNAs.
MA567941 - JP 2018138019-A/139867: Polycomb-Associated Non-Coding RNAs.
JD130142 - Sequence 111166 from Patent EP1572962.
LF379029 - JP 2014500723-A/186532: Polycomb-Associated Non-Coding RNAs.
MA614606 - JP 2018138019-A/186532: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: A4, A6NDT7, ENST00000376327.1, ENST00000376327.2, ENST00000376327.3, ENST00000376327.4, ENST00000376327.5, NM_002668, PLP2_HUMAN, Q04941, Q32MM8, uc004dmx.1, uc004dmx.2, uc004dmx.3, uc004dmx.4, uc004dmx.5
UCSC ID: ENST00000376327.6
RefSeq Accession: NM_002668
Protein: Q04941 (aka PLP2_HUMAN)
CCDS: CCDS14319.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.