PMP2 - peripheral myelin protein 2 Gene

Homo sapiens

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

Gene ID: 5375 | Gene type: protein coding

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	Reference	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

Recombinant PMP2 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P71066	PMP2 Protein, Human (His)	P02689 (M1-V132)	≥95%

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10768	PMP2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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