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  2. PMP2 - peripheral myelin protein 2 Gene

PMP2 - peripheral myelin protein 2 Gene

中文名称:外周髓鞘蛋白 2

种属: Homo sapiens

同用名: P2; MP2; CMT1G; FABP8; M-FABP

基因 ID: 5375 | 基因类型: protein coding

关于 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).

功能概要

由该基因编码的蛋白质定位于周围神经系统的髓鞘。编码的蛋白质可以结合鞘的膜层和单体脂质,并被认为可以为鞘提供稳定性。该基因的缺陷被证明是显性脱髓鞘性 CMT 神经病的原因。[RefSeq 提供,2017 年 1 月]

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 基因产物(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
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables cholesterol binding IDA
IDA: 通过直接分析推断
20421974 GOA
enables fatty acid binding IDA
IDA: 通过直接分析推断
20421974 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
25416956 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

PMP2 蛋白结构

Lipocalin

Lipocalin: Lipocalin / cytosolic fatty-acid binding protein family (7 - 131)

  • 0
  • 100
  • 132 a.a.
蛋白主名 其他名称

myelin P2 protein

重组 PMP2 蛋白

目录号 产品名 蛋白编号 纯度
HY-P71066 PMP2 Protein, Human (His) P02689 (M1-V132) ≥95%

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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