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

Summary

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; AllianceGenome:HGNC:9117
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; CMT1G; 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]
Expression: Restricted expression toward brain (RPKM 121.5) See more
Orthologs: all
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Genomic context

Location:: 8q21.13

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (81440326..81447439, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (81871924..81879037, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (82352561..82359674, complement)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

PMP2/FABP8 induces PI(4,5)P2-dependent transbilayer reorganization of sphingomyelin in the plasma membrane.
Title: PMP2/FABP8 induces PI(4,5)P(2)-dependent transbilayer reorganization of sphingomyelin in the plasma membrane.
Human myelin protein P2: from crystallography to time-lapse membrane imaging and neuropathy-associated variants.
Title: Human myelin protein P2: from crystallography to time-lapse membrane imaging and neuropathy-associated variants.
Early onset demyelinating Charcot-Marie-Tooth disease caused by a novel in-frame isoleucine deletion in peripheral myelin protein 2.
Title: Early onset demyelinating Charcot-Marie-Tooth disease caused by a novel in-frame isoleucine deletion in peripheral myelin protein 2.
Cryo-EM, X-ray diffraction, and atomistic simulations reveal determinants for the formation of a supramolecular myelin-like proteolipid lattice.
Title: Cryo-EM, X-ray diffraction, and atomistic simulations reveal determinants for the formation of a supramolecular myelin-like proteolipid lattice.
Peripheral myelin protein 2 - a novel cluster of mutations causing Charcot-Marie-Tooth neuropathy.
Title: Peripheral myelin protein 2 - a novel cluster of mutations causing Charcot-Marie-Tooth neuropathy.
High PMP2 expression is associated with melanoma cell invasion.
Title: The myelin protein PMP2 is regulated by SOX10 and drives melanoma cell invasion.
These findings demonstrate that altered biophysical properties and functional dynamics of P2 may cause myelin defects in Charcot-Marie-Tooth disease 1 patients.
Title: Molecular mechanisms of Charcot-Marie-Tooth neuropathy linked to mutations in human myelin protein P2.
The structural characterization of the F57A mutant of P2 which shows changes in the portal region and helix alpha2 and an unfolded status upon lipid bilayer binding. Further results suggest a central role for Phe57 in regulating the opening of the portal region in human P2, and the F57A mutation disturbs dynamic cross-correlation networks in the portal region of P2.
Title: Structure and dynamics of a human myelin protein P2 portal region mutant indicate opening of the β barrel in fatty acid binding proteins.
SH3TC2, PMP2, and BSCL2 pathogenic variants might be rare in Chinese Charcot-Marie-Tooth (CMT) patients.
Title: Screening for SH3TC2, PMP2, and BSCL2 Variants in a Cohort of Chinese Patients with Charcot-Marie-Tooth.
Our genetic and clinical findings in these kindred demonstrate that dominant PMP2 mutations cause Charcot-Marie- Tooth disease type 1.
Title: De novo PMP2 mutations in families with type 1 Charcot-Marie-Tooth disease.

Submit: New GeneRIF Correction See all GeneRIFs (14)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Charcot-Marie-Tooth disease, demyelinating, type 1G MedGen: C4748940 OMIM: 618279 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

STS-X62167 (e-PCR)
- UniSTS:63750

D8S1917 (e-PCR)
- UniSTS:76200

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cholesterol binding	IDA Inferred from Direct Assay more info	PubMed
enables fatty acid binding	IBA Inferred from Biological aspect of Ancestor more info
enables fatty acid binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in fatty acid transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in membrane organization	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular exosome	HDA more info	PubMed
located_in myelin sheath	IEA Inferred from Electronic Annotation more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: myelin P2 protein

NCBI Reference Sequences (RefSeq)

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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

NG_052979.1 RefSeqGene

Range

5085..12198

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001348381.2 → NP_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

Consensus CDS

CCDS87617.1

UniProtKB/TrEMBL

E5RH45

Related

ENSP00000429917.1, ENST00000519260.1
NM_002677.5 → NP_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, Q6FHL4

Related

ENSP00000256103.2, ENST00000256103.3

Conserved Domains (1) summary

cd19469
Location:3 → 131

FABP8; fatty acid binding protein 8