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PLP2 proteolipid protein 2 [ Homo sapiens (human) ]

Gene ID: 5355, updated on 7-Jun-2020

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
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

Genomic context

See PLP2 in Genome Data Viewer
Location:
Xp11.23
Exon count:
5
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (49171898..49175235)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (49028184..49031469)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene ZFP161 motif-containing MPRA enhancer 76/77 Neighboring gene MAGI family member, X-linked Neighboring gene prickle planar cell polarity protein 3 Neighboring gene synaptophysin Neighboring gene SYP antisense RNA 1 Neighboring gene calcium voltage-gated channel subunit alpha1 F

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC126187

Gene Ontology Provided by GOA

Function Evidence Code Pubs
chemokine binding IPI
Inferred from Physical Interaction
more info
PubMed 
ion transmembrane transporter activity TAS
Traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
chemotaxis NAS
Non-traceable Author Statement
more info
PubMed 
cytokine-mediated signaling pathway NAS
Non-traceable Author Statement
more info
PubMed 
ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
ion transport TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
endoplasmic reticulum TAS
Traceable Author Statement
more info
PubMed 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
PubMed 
integral component of membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
membrane TAS
Traceable Author Statement
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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)

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.

Genomic

  1. NG_016420.1 RefSeqGene

    Range
    5062..8401
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_002668.3NP_002659.1  proteolipid protein 2

    See identical proteins and their annotated locations for NP_002659.1

    Status: REVIEWED

    Source sequence(s)
    AC232271, BC109066, DB220888
    Consensus CDS
    CCDS14319.1
    UniProtKB/Swiss-Prot
    Q04941
    UniProtKB/TrEMBL
    A0A024QYW3
    Related
    ENSP00000365505.5, ENST00000376327.6
    Conserved Domains (1) summary
    pfam01284
    Location:19131
    MARVEL; Membrane-associating domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    49171898..49175235
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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