U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

PLP2 proteolipid protein 2 [ Homo sapiens (human) ]

Gene ID: 5355, updated on 25-Dec-2023

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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See PLP2 in Genome Data Viewer
Location:
Xp11.23
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (49171898..49175235)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (48583646..48586985)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (49028245..49031584)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373195 Neighboring gene CRISPRi-FlowFISH-validated PLP2 regulatory element 1 Neighboring gene RNA, 7SL, cytoplasmic 262, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:49019052-49019751 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20837 Neighboring gene CRISPRi-FlowFISH-validated PLP2 regulatory element 8 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:49022309-49023254 Neighboring gene CRISPRi-FlowFISH-validated PLP2 regulatory element 10 Neighboring gene MAGI family member, X-linked Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20838 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20839 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:49032849-49033350 Neighboring gene CRISPRi-FlowFISH-validated PLP2 regulatory element 11 Neighboring gene prickle planar cell polarity protein 3 Neighboring gene CRISPRi-FlowFISH-validated GATA1 and PLP2 regulatory element Neighboring gene CRISPRi-FlowFISH-validated PLP2 regulatory element 12 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20841 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29635 Neighboring gene CRISPRi-FlowFISH-validated PLP2 regulatory element 13 Neighboring gene synaptophysin Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20842 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20843 Neighboring gene SYP antisense RNA 1 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chrX:49065732-49066931 Neighboring gene calcium voltage-gated channel subunit alpha1 F Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:49086994-49087652

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 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)

NEW Try the new Transcript table

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_016420.2 RefSeqGene

    Range
    5002..8339
    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
    A6NDT7, Q04941, Q32MM8
    Related
    ENSP00000365505.5, ENST00000376327.6
    Conserved Domains (1) summary
    pfam01284
    Location:19131
    MARVEL; Membrane-associating domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    48583646..48586985
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)