PMP2 - peripheral myelin protein 2 Gene

Also Known as P2; MP2; CMT1G; FABP8; M-FABP

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5375

About PMP2

Cytogenetic location: 8q21.13 Genomic coordinates (GRCh38): 8:81,440,326-81,447,439 (from NCBI)

This gene has 2 transcripts (splice variants), 453 orthologues, 15 paralogues and is associated with 2 phenotypes. Restricted expression toward brain (RPKM 121.5).

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]

PMP2 Products (2)

mRNA	Protein	Name
NM_001348381.2	NP_001335310.1	myelin P2 protein isoform 2
NM_002677.5	NP_002668.1	myelin P2 protein isoform 1

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables cholesterol binding	IDA IDA: Inferred from direct assay	20421974	GOA
enables fatty acid binding	IDA IDA: Inferred from direct assay	20421974	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PMP2 Protein Structure

Lipocalin

0
100
132 a.a.

Protein Preferred Names	Protein Names
myelin P2 protein

PMP2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	PMP2	P02689	CCNDBP1	Homo sapiens	O95273	Y2H Array	31515488

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant PMP2 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P71066	PMP2 Protein, Human (His)	P02689 (M1-V132)	≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases	Alias
Charcot-Marie-Tooth Disease, Demyelinating, Type 1g	CMT1G Charcot-Marie-Tooth Disease, Demyelinating, 1g
Charcot-Marie-Tooth Disease Type 1g	Pmp2-Related Charcot-Marie-Tooth Disease Type 1 Pmp2-Related Charcot-Marie-Tooth Neuropathy Type 1 Pmp2-Related Cmt1 Pmp2-Related Hereditary Motor And Sensory Neuropathy Type 1 Cmt1g
Neuritis	Peripheral Neuritis
Peripheral Nervous System Disease	Peripheral Neuropathy Peripheral Nerve Disease Peripheral Nerve Disorders Neuropathy, Peripheral Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation
Tooth Disease	Tooth Diseases Teeth Disease Tooth Disorders
Charcot-Marie-Tooth Disease	Cmt Hmsn Hereditary Motor And Sensory Neuropathy Pma Cmt - Charcot-Marie-Tooth Disease Charcot Marie Tooth Disease Charcot-Marie-Tooth Hereditary Neuropathy Charcot-Marie-Tooth Syndrome Peroneal Muscular Atrophy Hereditary Motor And Sensory Neuropathies
Leech Infestation	Hirudiniasis Leeches
Encephalitozoonosis	Infection By Encephalitozoon
Charcot-Marie-Tooth Disease And Deafness	Charcot-Marie-Tooth Disease Type 1e CMT1E Charcot-Marie-Tooth Disease Type 1 Hereditary Motor And Sensory Neuropathy Type 1 Charcot-Marie-Tooth Disease, Demyelinating, Type 1e Charcot-Marie-Tooth Disease, Type I Charcot-Marie-Tooth Neuropathy And Deafness, Autosomal Dominant Charcot-Marie-Tooth Disease, Type 1e Charcot-Marie-Tooth Disease Demyelinating Type 1e Autosomal Dominant Demyelinating Charcot-Marie-Tooth Disease Cmt1 Charcot-Marie-Tooth Neuropathy Type 1 Autosomal Dominant Charcot-Marie-Tooth Neuropathy And Deafness Charcot-Marie-Tooth Disease-Deafness Charcot-Marie-Tooth Type 1 Hmsn1 Hereditary Motor And Sensory Neuropathy 1 Cmt 1e Charcot Marie Tooth Disease Type 1e Charcot-Marie-Tooth Disease-Deafness Syndrome Charcot-Marie-Tooth Disease-Hearing Loss Syndrome Charcot-Marie-Tooth Disease 1e Charcot-Marie-Tooth Disease And Deafness Autosomal Dominant Charcot-Marie-Tooth Neuropathy Type 1e Charcot-Marie-Tooth Disease, Type Ie Hereditary Motor And Sensory Neuropathy Type I
Polyradiculoneuropathy
Guillain-Barre Syndrome	Guillain-Barré Syndrome Acute Inflammatory Polyneuropathy Gbs Acute Inflammatory Demyelinating Polyneuropathy Acute Inflammatory Demyelinating Polyradiculoneuropathy Acute Infective Polyneuritis Acute Inflammatory Demyelinating Polyradiculopathy Acute Postinfectious Polyneuropathy Infectious Neuronitis Post-Infectious Polyneuritis Postinfectious Polyneuritis Acute Autoimmune Peripheral Neuropathy Acute Immune-Mediated Polyneuropathy Acute Inflammatory Neuropathy Guillain-Barré-Strohl Syndrome Landry'S Ascending Paralysis Landry-Guillain-Barre-Strohl Syndrome Post-Infective Polyneuritis Acute Infectious Polyneuritis Fisher Syndrome Landry-Guillain-Barre Syndrome Guillain-Barre-Strohl Syndrome Variant Of Guillain-Barre Syndrome Variant Of Gbs Aidp Acute Idiopathic Demyelinating Polyneuropathy Gbs, Acute Inflammatory Demyelinating Polyradiculoneuropathic Form Guillain-Barre Syndrome, Acute Inflammatory Demyelinating Polyradiculoneuropathic Form Miller Fisher Syndrome
Neuropathy	Peripheral Neuropathy Peripheral Neuropathies
Microsporidiosis	Infection By Microspora Microsporidiasis Infection By Microsporea Infection By Microsporida Intestinal Microsporidiosis Microsporidia Infection Infection By Microsporidia
Hyperoxaluria, Primary, Type Ii	Primary Hyperoxaluria Type 2 D-Glycerate Dehydrogenase Deficiency Glyoxylate Reductase/Hydroxypyruvate Reductase Deficiency HP2 Oxalosis Ii Glyceric Aciduria L-Glyceric Aciduria Primary Hyperoxaluria, Type Ii Oxalosis 2 Hyperoxaluria Primary 2 Hyperoxaluria Primary Type Ii Ph2 Primary Hyperoxaluria Type Ii
Charcot-Marie-Tooth Disease, Demyelinating, Type 1d	Charcot-Marie-Tooth Disease Type 1d CMT1D Hmsn Id Hmsn1d Charcot-Marie-Tooth Disease, Type 1d Hereditary Motor And Sensory Neuropathy 1d Charcot-Marie-Tooth Neuropathy Type 1d Charcot-Marie-Tooth Neuropathy, Type 1d Charcot-Marie-Tooth Disease 1d Charcot-Marie-Tooth Disease Demyelinating Type 1d Hereditary Motor And Sensory Neuropathy Id Charcot-Marie-Tooth Disease, Type Id
Polyposis Syndrome, Hereditary Mixed, 2	HMPS2 Hereditary Mixed Polyposis Syndrome 2 Polyposis Syndrome, Mixed Hereditary 2 Polyposis Syndrome, Hereditary Mixed, Type 2
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive	Charcot-Marie-Tooth Disease Type 4 Charcot-Marie-Tooth Disease Type 4e Hereditary Motor And Sensory Neuropathy Cmt4e CHN1 Hypomyelinating Neuropathy, Congenital, 1 Charcot-Marie-Tooth Neuropathy Type 4e Neuropathy, Congenital Hypomyelinating, 1 Ar-Cmt1 Autosomal Recessive Demyelinating Charcot-Marie-Tooth Cmt4 Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive Hypomyelination, Severe Congenital Charcot-Marie-Tooth Disease, Type 4e Charcot-Marie-Tooth Neuropathy, Type 4e Autosomal Recessive Congenital Hypomyelinating Or Amyelinating Neuropathy Autosomal Recessive Congenital Hypomyelinating Neuropathy Congenital Amyelinating Neuropathy Congenital Hypomyelinating Neuropathy Autosomal Recessive Neuropathy, Congenital Hypomyelinating Or Amyelinating Severe Congenital Hypomyelination Hereditary Sensory Motor Neuropathy Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive Neuropathy, Hypomyelinating, Congenital, Type 1 Neuropathy, Motor And Sensory, Hereditary Congenital Hypomyelinating Neuropathy Hereditary Motor And Sensory Neuropathies Hereditary Sensorimotor Neuropathy Hmsn - [Hereditary Motor And Sensory Neuropathy] Hsmn - [Hereditary Sensory And Motor Neuropathy] Hereditary Motor And Sensory Neuropathy, Types I-Iv
Charcot-Marie-Tooth Disease, Type 4a	Charcot-Marie-Tooth Disease Type 4a CMT4A Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4a Charcot-Marie-Tooth Neuropathy, Type 4a Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease Type 4a Charcot-Marie-Tooth Neuropathy Type 4a Charcot-Marie-Tooth Disease 4a Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive, Type 4a Charcot-Marie-Tooth Disease Neuropathy Type 4a
Autoimmune Peripheral Neuropathy
Charcot-Marie-Tooth Disease, Demyelinating, Type 1a	Charcot-Marie-Tooth Disease Type 1a CMT1A Charcot-Marie-Tooth Disease, Type Ia Hmsn1a Hereditary Motor And Sensory Neuropathy Ia Hmsn Ia Charcot-Marie-Tooth Neuropathy, Type 1a Charcot-Marie-Tooth Disease, Type 1a Charcot-Marie-Tooth Neuropathy Type 1a Hereditary Motor And Sensory Neuropathy 1a Microduplication 17p12 Charcot-Marie-Tooth Disease, Autosomal Dominant, With Focally Folded Myelin Sheaths, Type 1a Autosomal Dominant Charcot-Marie-Tooth Disease With Focally Folded Myelin Sheaths Type 1a Cmt 1a Charcot Marie Tooth Disease Type 1a Hmsn 1a Charcot-Marie-Tooth Disease 1a Charcot-Marie-Tooth Disease Demyelinating Type 1a Charcot-Marie-Tooth Disease Slow Nerve Conduction Type Unlinked To Duffy
Autoimmune Neuropathy
Charcot-Marie-Tooth Disease, Axonal, Type 2e	Charcot-Marie-Tooth Disease Type 2 CMT2E CMT2S CMT2Y Charcot-Marie-Tooth Disease Type 2e Charcot-Marie-Tooth Disease Type 2y Charcot-Marie-Tooth Disease Axonal Type 2s Charcot-Marie-Tooth Disease, Axonal, Type 2s Charcot-Marie-Tooth Disease, Type 2e Hereditary Motor And Sensory Neuropathy Type 2 Charcot-Marie-Tooth Neuropathy, Type 2s Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2s Charcot-Marie-Tooth Disease, Axonal, Type 2y Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y Charcot-Marie-Tooth Neuropathy, Type 2y Charcot-Marie-Tooth Disease, Type 2y Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e Charcot-Marie-Tooth Neuropathy Type 2e Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Vcp Mutation Cmt2 Due To Vcp Mutation Charcot-Marie-Tooth Disease Type 2s Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Cmt2 Charcot-Marie-Tooth Neuropathy, Type 2e Hereditary Motor And Sensory Neuropathy Guadalajara Neuronal Type Hereditary Motor And Sensory Neuropathy Okinawa Type Autosomal Dominant Axonal Charcot-Marie-Tooth Type 2y Charcot-Marie-Tooth Neuropathy Type 2y Autosomal Recessive Axonal Charcot-Marie-Tooth Type 2s Charcot-Marie-Tooth Neuropathy Type 2s Charcot-Marie-Tooth Type 2 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2y Charcot-Marie-Tooth Disease 2e Charcot-Marie-Tooth Disease Axonal Type 2e Charcot-Marie-Tooth Disease Neuronal Type 2e Charcot-Marie-Tooth Disease 2s Charcot-Marie-Tooth Neuropathy Axonal Type 2s Charcot-Marie-Tooth Disease 2y Charcot-Marie-Tooth Disease, Type 2 Hereditary Motor And Sensory-Neuropathy Type Ii
Neuromuscular Disease	Neuromuscular Diseases Neuromuscular Disorders Neuromuscular Disorder

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10768	PMP2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20327	Pmp2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26835	Pmp2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	PMP2	VGNC	VGNC:53876
Mus musculus	PMP2	MGD	MGI:102667
Rattus norvegicus	PMP2	RGD	RGD:1585218
Felis catus	PMP2	VGNC	VGNC:81703
Macaca mulatta	PMP2	VGNC	VGNC:84101
Others	PMP2	NCBI