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PMP2 peripheral myelin protein 2 [ Homo sapiens (human) ]

Gene ID: 5375, updated on 5-Nov-2017
Official Symbol
PMP2provided by HGNC
Official Full Name
peripheral myelin protein 2provided by HGNC
Primary source
HGNC:HGNC:9117
See related
Ensembl:ENSG00000147588 MIM:170715; Vega:OTTHUMG00000164600
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
P2; MP2; FABP8; M-FABP
Summary
The protein encoded by this gene localizes to myelin sheaths of the peripheral nervous system. The encoded protein can bind both the membrane layers of the sheaths and monomeric lipids, and is thought to provide stability to the sheath. A defect in this gene was shown to be a cause of dominant demyelinating CMT neuropathy. [provided by RefSeq, Jan 2017]
Orthologs
Location:
8q21.13
Exon count:
4
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 8 NC_000008.11 (81440326..81447484, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (82352561..82359719, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375925 Neighboring gene uncharacterized LOC105375926 Neighboring gene uncharacterized LOC101927118 Neighboring gene fatty acid binding protein 9 Neighboring gene fatty acid binding protein 4

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cholesterol binding IDA
Inferred from Direct Assay
more info
PubMed 
fatty acid binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
transporter activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
membrane organization IEA
Inferred from Electronic Annotation
more info
 
transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
extracellular exosome IDA
Inferred from Direct Assay
more info
PubMed 
myelin sheath IEA
Inferred from Electronic Annotation
more info
 

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_052979.1 RefSeqGene

    Range
    5001..12198
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001348381.1NP_001335310.1  myelin P2 protein isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate exon compared to variant 1, that causes a frameshift. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AC018616
    UniProtKB/TrEMBL
    E5RH45
  2. NM_002677.4NP_002668.1  myelin P2 protein isoform 1

    See identical proteins and their annotated locations for NP_002668.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC018616, BC034997, DA160405
    Consensus CDS
    CCDS6229.1
    UniProtKB/Swiss-Prot
    P02689
    Related
    ENSP00000256103.2, OTTHUMP00000227024, ENST00000256103.2, OTTHUMT00000379365
    Conserved Domains (1) summary
    pfam00061
    Location:6132
    Lipocalin; Lipocalin / cytosolic fatty-acid binding protein family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

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

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p7 Primary Assembly

    Range
    81440326..81447484 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018919.2 Alternate CHM1_1.1

    Range
    82404170..82411323 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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