PMP2

Protein-coding gene in humans
PMP2
Available structures
PDBOrtholog search: PDBe RCSB
List of PDB id codes

2WUT, 3NR3, 4A1H, 4A1Y, 4A8Z, 4BVM, 4D6A, 4D6B

Identifiers
AliasesPMP2, FABP8, M-FABP, MP2, P2, peripheral myelin protein 2, Myelin P2 protein, CMT1G
External IDsOMIM: 170715; MGI: 102667; HomoloGene: 20589; GeneCards: PMP2; OMA:PMP2 - orthologs
Gene location (Human)
Chromosome 8 (human)
Chr.Chromosome 8 (human)[1]
Chromosome 8 (human)
Genomic location for PMP2
Genomic location for PMP2
Band8q21.13Start81,440,326 bp[1]
End81,447,439 bp[1]
Gene location (Mouse)
Chromosome 3 (mouse)
Chr.Chromosome 3 (mouse)[2]
Chromosome 3 (mouse)
Genomic location for PMP2
Genomic location for PMP2
Band3 A1|3 2.54 cMStart10,244,911 bp[2]
End10,248,989 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • olfactory bulb

  • superior vestibular nucleus

  • trigeminal ganglion

  • inferior ganglion of vagus nerve

  • ventral tegmental area

  • subthalamic nucleus

  • external globus pallidus

  • pars reticulata

  • Pars compacta

  • internal globus pallidus
Top expressed in
  • blastocyst

  • morula

  • spermatocyte

  • neural layer of retina

  • skeletal muscle tissue

  • quadriceps femoris muscle

  • zone of skin

  • testicle

  • esophagus

  • white adipose tissue
More reference expression data
BioGPS
More reference expression data
Gene ontology
Molecular function
  • fatty acid binding
  • cholesterol binding
  • protein binding
  • lipid binding
  • transporter activity
Cellular component
  • cytoplasm
  • myelin sheath
  • extracellular exosome
Biological process
  • membrane organization
  • transport
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

5375

18857

Ensembl

ENSG00000147588

ENSMUSG00000052468

UniProt

P02689

P24526

RefSeq (mRNA)

NM_002677
NM_001348381

NM_001030305

RefSeq (protein)

NP_002668
NP_001335310

NP_001025476

Location (UCSC)Chr 8: 81.44 – 81.45 MbChr 3: 10.24 – 10.25 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Myelin P2 protein is a protein that in humans is encoded by the PMP2 gene.[5][6][7] Myelin protein P2 is a constituent of peripheral nervous system (PNS) myelin, also present in small amounts in central nervous system (CNS) myelin. As a structural protein, P2 is thought to stabilize the myelin membranes, and may play a role in lipid transport in Schwann cells. Structurally, P2 belongs to the family of cytoplasmic fatty acid-binding proteins (FABPs).

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000147588 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000052468 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Hayasaka K, Nanao K, Tahara M, Sato W, Takada G, Miura M, Uyemura K (Jan 1992). "Isolation and sequence determination of cDNA encoding P2 protein of human peripheral myelin". Biochem Biophys Res Commun. 181 (1): 204–7. doi:10.1016/S0006-291X(05)81402-0. PMID 1720307.
  6. ^ Hayasaka K, Himoro M, Takada G, Takahashi E, Minoshima S, Shimizu N (Feb 1994). "Structure and localization of the gene encoding human peripheral myelin protein 2 (PMP2)". Genomics. 18 (2): 244–8. doi:10.1006/geno.1993.1462. PMID 8288226.
  7. ^ "Entrez Gene: PMP2 peripheral myelin protein 2".

Further reading

  • Narayanan V, Barbosa E, Reed R, Tennekoon G (1988). "Characterization of a cloned cDNA encoding rabbit myelin P2 protein". J. Biol. Chem. 263 (17): 8332–7. doi:10.1016/S0021-9258(18)68481-9. PMID 2453513.
  • Jones TA, Bergfors T, Sedzik J, Unge T (1988). "The three-dimensional structure of P2 myelin protein". EMBO J. 7 (6): 1597–604. doi:10.1002/j.1460-2075.1988.tb02985.x. PMC 457142. PMID 2458918.
  • Ishaque A, Hofmann T, Eylar EH (1982). "The complete amino acid sequence of the rabbit P2 protein". J. Biol. Chem. 257 (2): 592–5. doi:10.1016/S0021-9258(19)68231-1. PMID 6172423.
  • Suzuki M, Kitamura K, Sakamoto Y, Uyemura K (1983). "The complete amino acid sequence of human P2 protein". J. Neurochem. 39 (6): 1759–62. doi:10.1111/j.1471-4159.1982.tb08017.x. PMID 6183401. S2CID 43779591.
  • Trapp BD, Dubois-Dalcq M, Quarles RH (1984). "Ultrastructural localization of P2 protein in actively myelinating rat Schwann cells". J. Neurochem. 43 (4): 944–8. doi:10.1111/j.1471-4159.1984.tb12828.x. PMID 6206203. S2CID 37059056.
  • Narayanan V, Ripepi B, Jabs EW, et al. (1994). "Partial structure and mapping of the human myelin P2 protein gene" (PDF). J. Neurochem. 63 (6): 2010–3. doi:10.1046/j.1471-4159.1994.63062010.x. hdl:2027.42/65484. PMID 7525873. S2CID 17388921.
  • Besançon R, Latour P, Lara K, et al. (2001). "Exonic SNPs at positions 220 (A/G) and 445 (C/T) of the peripheral myelin protein 2 (PMP2)". Hum. Mutat. 17 (3): 237. doi:10.1002/humu.11. PMID 11241848. S2CID 33419662.
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
  • Fortna A, Kim Y, MacLaren E, et al. (2006). "Lineage-Specific Gene Duplication and Loss in Human and Great Ape Evolution". PLoS Biol. 2 (7): E207. doi:10.1371/journal.pbio.0020207. PMC 449870. PMID 15252450.
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
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  • 1pmp: CRYSTALLOGRAPHIC STUDIES ON A FAMILY OF CELLULAR LIPOPHILIC TRANSPORT PROTEINS. REFINEMENT OF P2 MYELIN PROTEIN AND THE STRUCTURE DETERMINATION AND REFINEMENT OF CELLULAR RETINOL-BINDING PROTEIN IN COMPLEX WITH ALL-TRANS-RETINOL
    1pmp: CRYSTALLOGRAPHIC STUDIES ON A FAMILY OF CELLULAR LIPOPHILIC TRANSPORT PROTEINS. REFINEMENT OF P2 MYELIN PROTEIN AND THE STRUCTURE DETERMINATION AND REFINEMENT OF CELLULAR RETINOL-BINDING PROTEIN IN COMPLEX WITH ALL-TRANS-RETINOL
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Arrestin
Membrane-spanning 4A
  • MS4A1
  • MS4A2
  • MS4A3
  • MS4A4A
  • MS4A4E
  • MS4A5
  • MS4A6A
  • MS4A6E
  • MS4A7
  • MS4A8B
  • MS4A9
  • MS4A10
  • MS4A12
  • MS4A13
  • MS4A14
  • MS4A15
  • MS4A18
Myelin
Pulmonary surfactant
Tetraspanin
Other/ungrouped
see also other cell membrane protein disorders


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