1. Gene
  2. CHMP2B - charged multivesicular body protein 2B Gene

CHMP2B - charged multivesicular body protein 2B Gene

中文名称:带电多泡体蛋白 2B

种属: Homo sapiens

同用名: DMT1; ALS17; VPS2B; VPS2-2; CHMP2.5; FTDALS7

基因 ID: 25978 | 基因类型: protein coding

关于 CHMP2B

Cytogenetic location: 3p11.2 Genomic coordinates (GRCh38): 3:87,227,309-87,255,556 (from NCBI)

This gene has 10 transcripts (splice variants), 229 orthologues, 4 paralogues and is associated with 5 phenotypes. Ubiquitous expression in thyroid (RPKM 27.4), colon (RPKM 24.7) and 25 other tissues.

功能概要

该基因编码异聚 ESCRT-III 复合物 (运输 III 所需的内体分选复合物) 的一个组分,该复合物在细胞表面受体的再循环或降解中发挥作用。 ESCRT-III 在泛素化内体货物聚集和内陷到腔内囊泡中发挥作用。由该基因编码的蛋白质被发现作为胞质溶胶中的单体或作为内体膜上 ESCRT-III 复合物中的寡聚体。它在大脑所有主要区域的神经元中表达。该基因的突变导致一种形式的家族性额颞叶变性。[RefSeq 提供,2008 年 7 月]

This gene encodes a component of the heteromeric ESCRT-III complex (Endosomal Sorting Complex Required for Transport III) that functions in the recycling or degradation of cell surface receptors. ESCRT-III functions in the concentration and invagination of ubiquitinated endosomal cargos into intralumenal vesicles. The protein encoded by this gene is found as a monomer in the cytosol or as an oligomer in ESCRT-III complexes on endosomal membranes. It is expressed in neurons of all major regions of the brain. Mutations in this gene result in one form of familial frontotemporal lobar degeneration. [provided by RefSeq, Jul 2008]

CHMP2B 基因产物(3)

mRNA Protein Name
NM_001244644.2 NP_001231573.1 charged multivesicular body protein 2b isoform 2
NM_001410777.1 NP_001397706.1 charged multivesicular body protein 2b isoform 3
NM_014043.4 NP_054762.2 charged multivesicular body protein 2b isoform 1

CHMP2B 蛋白结构

Snf7

Snf7: Snf7 (16 - 185)

  • 0
  • 100
  • 200
  • 213 a.a.
蛋白主名 其他名称

charged multivesicular body protein 2b

VPS2 homolog B

关联疾病

疾病名称 别名
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7

Ftd3

Frontotemporal Dementia, Chromosome 3-Linked

Amyotrophic Lateral Sclerosis, Chmp2b-Related

Chromosome 3-Linked Frontotemporal Dementia

FTDALS7

Chmp2b-Related Frontotemporal Dementia

Amyotrophic Lateral Sclerosis 17, Formerly

Als17, Formerly

Amyotrophic Lateral Sclerosis Type 17

Dtm1

Ftd-3

Ftd-Chmp2b

Als17

Amyotrophic Lateral Sclerosis 17

Sclerosis, Lateral, Amyotrophic, Type 17

Dementia, Frontotemporal, Chromosome 3-Linked

Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis

ALS

Lou Gehrig Disease

Amyotrophic Lateral Sclerosis Type 1

Charcot Disease

ALS1

Amyotrophic Lateral Sclerosis, Susceptibility To

Fals

Lou Gehrig'S Disease

Mnd

Motor Neuron Disease

Familial Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis 1, Familial

Amyotrophic Lateral Sclerosis 1, Autosomal Dominant

Motor Neuron Disease, Bulbar

Motor Neurone Disease

Amyotrophic Lateral Sclerosis With Dementia

Dementia With Amyotrophic Lateral Sclerosis

Motor Neuron Disease, Amyotrophic Lateral Sclerosis

Sclerosis, Lateral, Amyotrophic

Sclerosis, Lateral, Amyotrophic, Type 1

Amyotrophic Sclerosis

Als - [Amyotrophic Lateral Sclerosis]

Wasting Palsy

Amyotrophic Paralysis

Amyotrophy Lateral Sclerosis

Wasting Paralysis

Spinal Progressive Amyotrophy

Progressive Atrophic Paralysis

Frontotemporal Dementia

Pallidopontonigral Degeneration

Frontotemporal Lobar Degeneration

Semantic Dementia

FTD

Frontotemporal Lobe Dementia

Multiple System Tauopathy With Presenile Dementia

Dementia, Frontotemporal

Frontotemporal Dementia With Parkinsonism

Mstd

Frontotemporal Lobar Degeneration With Tau Inclusions

Ftld With Tau Inclusions

Dementia, Frontotemporal, With Parkinsonism

Fldem

Ftdp17

Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex

Ddpac

Wilhelmsen-Lynch Disease

Wld

Ppnd

Dementia, Frontotemporal, With Or Without Parkinsonism

Semantic Primary Progressive Aphasia

Semantic Variant Ppa

Wilhemsen-Lynch Disease

Frontotemporal Dementia-Amyotrophic Lateral Sclerosis

Frontotemporal Dementia And Parkinsonism Linked To Chromosome 17

Ftd-Als

Ftld

Pick Complex

Pick Disease Of The Brain

Frontotemporal Dementia With Parkinsonism-17

Grn-Related Frontotemporal Dementia

Frontotemporal Dementia With Motor Neuron Disease

Dementia In Fronto-Temporal Lobar Degeneration

Ftd - [Frontotemporal Dementia]

Temple Dementia

Frontal Lobe Dementia

Pick Disease Of Brain

Pick Disease

Pick'S Disease

Pick Disease Of The Brain

Lobar Atrophy Of Brain

Dementia With Lobar Atrophy And Neuronal Cytoplasmic Inclusions

Behavioral Variant Of Frontotemporal Dementia

Dementia In Pick'S Disease

Lobar Atrophy Of The Brain

Bvftd

Bv-Ftd

PIDB

Picks Disease

Progressive Non-Fluent Aphasia

Non-Fluent Variant Ppa

Progressive Nonfluent Aphasia

Non-Fluent Primary Progressive Aphasia

Agramatic Variant Of Ppa

Agramatic Variant Of Primary Progressive Aphasia

Primary Progressive Non Fluent Aphasia

Primary Progressive Nonfluent Aphasia

Amyotrophic Lateral Sclerosis 7

ALS7

Amyotrophic Lateral Sclerosis Type 7

Dementia

Dementias

Presenile Dementia

Alzheimer Type Dementia

Alzheimer Sclerosis

Alzheimer Disease Dementia

Alzheimer Dementia

Primary Degenerative Alzheimer Type Dementia

End Stage Alzheimer'S Dementia

Alzheimer'S Type Atypical Dementia

Alzheimer Type Presenile Dementia

Early Onset Alzheimer Dementia

Dementia In Alzheimer Disease Type 2

Dementia In Alzheimer Disease With Early Onset

Early Onset Alzheimer Type Dementia, Uncomplicated

Primary Degenerative Alzheimer Type Dementia, Early Onset

Primary Degenerative Alzheimer Type Dementia, Presenile Onset, Uncomplicated

Alzheimer Disease Dementia With Early Onset

Presenile Sclerosis

Presenile Brain Sclerosis

Presenile Alzheimer Brain Sclerosis

Late Onset Alzheimer Dementia

Dementia In Alzheimer Disease Type 1

Dementia In Alzheimer Disease With Late Onset

Primary Degenerative Alzheimer Type Dementia, Late Onset

Sdat - [Senile Dementia, Alzheimer Type]

Alzheimer Disease Dementia With Late Onset

Late Onset Alzheimer Brain Sclerosis

Senile Alzheimer Brain Disease

Senile Alzheimer Brain Sclerosis

Senile Primary Degenerative Alzheimer Type Dementia

Senile Dementia Of The Alzheimer Type

Arteriosclerotic Dementia

Strategic-Infarct Dementia

Post Stroke Dementia

Vascular Cognitive Impairment

Vascular Dementia

Dementia Of The Lewy Body Type

Dementia With Lewy Bodies

Sdlt - [Senile Dementia Of The Lewy Body Type]

Senile Dementia Of The Lewy Body Type

Alcohol-Related Dementia

Alcoholic Dementia Nos

Alcohol-Induced Dementia

Alcoholic Brain Syndrome

Chronic Alcoholic Brain Syndrome

Alcohol Dementia

Late Onset Alcoholic Psychosis

Residual And Late-Onset Alcohol-Induced Psychotic Disorder

Mental And Behavioural Disorders Due To Use Of Sedatives Or Hypnotics, Residual And Late-Onset Psychotic Disorder

Late-Onset Psychoactive Substance-Induced Psychotic Disorder

Inhalant Dementia

Volatile Solvents Dementia

Dementia In Paralysis Agitans

Pdd - [Parkinson Disease Dementia]

Dementia Syndrome Of Parkinson Disease

Dementia In Parkinson Disease

Parkinson Related Dementia

Dementia In Huntington Chorea

Hiv - [Human Immunodeficiency Virus] Dementia

Hiv- [Human Immunodeficiency Virus] Associated Cognitive Motor Complex

Hiv- [Human Immunodeficiency Virus] Associated Dementia Complex

Aids - [Acquired Immunodeficiency Syndrome] Dementia Complex

Aids Related Dementia

Dementia Due To Niacin Deficiency

Lateral Sclerosis

Primary Lateral Sclerosis

Adult-Onset Primary Lateral Sclerosis

Adult-Onset Pls

Motor Neuron Disease

Pls

Pls - [Primary Lateral Sclerosis]

Lateral Spinal Sclerosis

Lateral Complete Paralysis

Lateral Incomplete Paralysis

Lateral Paralysis

Amyotrophic Lateral Sclerosis Type 14

Als14

Amyotrophic Lateral Sclerosis 14

Amyotrophic Lateral Sclerosis, With Or Without Frontotemporal Dementia

Amyotrophic Lateral Sclerosis 14 With Or Without Frontotemporal Dementia

Speech And Communication Disorders

Language Disorder

Communication Disorder

Language Disorders

Communication Disorders

Speech Language Disorder

Speech-Language Disorder

Communication Impairment

Speech And Language Disorder

Associative Agnosia
Amyotrophic Lateral Sclerosis 9

Amyotrophic Lateral Sclerosis Type 9

ALS9

Sclerosis, Lateral, Amyotrophic, Type Type 9

Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3

FTDALS3

Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis-3

Dementia, Frontotemporal, And/Or Amyotrophic Lateral Sclerosis, Type 3

Amyotrophic Lateral Sclerosis Type 15

Amyotrophic Lateral Sclerosis 15, With Or Without Frontotemporal Dementia

Als15

Amyotrophic Lateral Sclerosis 15

Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia

Ibmpfd

Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia

Pagetoid Amyotrophic Lateral Sclerosis

Pagetoid Neuroskeletal Syndrome

Inclusion Body Myopathy With Paget Disease Of Bone And/Or Frontotemporal Dementia

Inclusion Body Myopathy With Early-Onset Paget Disease Of Bone And/Or Frontotemporal Dementia

Multisystem Proteinopathy

Limb-Girdle Muscular Dystrophy With Paget Disease Of Bone

Inclusion Body Myopathy With Paget'S Disease Of Bone And Frontotemporal Dementia

Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dement

Lower Motor Neuron Degeneration With Paget-Like Bone Disease

Muscular Dystrophy, Limb-Girdle, With Paget Disease Of Bone

Myopathy, Inclusion Body, With Early-Onset Paget Disease And Frontotemporal Dementia

Nominal Aphasia

Anomia

Anomic Aphasia

Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1

FTDALS1

Frontotemporal Dementia And/Or Motor Neuron Disease

Ftdmnd

Amyotrophic Lateral Sclerosis And/Or Frontotemporal Dementia

Alsftd

Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis

Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis-1

Frontotemporal Dementia With Motor Neuron Disease

Ftdals

Ftd-Als

Ftd-Mnd

Frontotemporal Dementia With Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis With Frontotemporal Dementia 1

Amyotrophic Lateral Sclerosis/Frontotemporal Dementia

Dementia, Frontotemporal, And/Or Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis And/Or Frontotemporal Dementia 1

Frontotemporal Lobar Degeneration

Grn-Related Frontotemporal Dementia

Amyotrophic Lateral Sclerosis Type 12

Amyotrophic Lateral Sclerosis 12

Als12

Sclerosis, Lateral, Amyotrophic, Type Type 12

Color Agnosia
Spinocerebellar Ataxia 2

Spinocerebellar Ataxia Type 2

SCA2

Amyotrophic Lateral Sclerosis 13

Spinocerebellar Degeneration With Slow Eye Movements

SDSEM

Spinocerebellar Atrophy Ii

Olivopontocerebellar Atrophy Ii

Opca2

Cerebellar Degeneration With Slow Eye Movements

Wadia-Swami Syndrome

Amyotrophic Lateral Sclerosis Type 13

ALS13

Olivopontocerebellar Atrophy Holguin Type

Spinocerebellar Ataxia Cuban Type

Olivopontocerebellar Atrophy, Holguin Type

Spinocerebellar Ataxia, Cuban Type

Amyotrophic Lateral Sclerosis, Susceptibility To, 13

Olivopontocerebellar Atrophy 2

Sca 2

Spinocerebellar Ataxia With Slow Eye Movements

Spinocerebellar Atrophy 2

Wadia Swami Syndrome

Opca Ii

Spinocerebellar Ataxia-2

Ataxia, Spinocerebellar, Type 2

Perry Syndrome

Parkinsonism With Alveolar Hypoventilation And Mental Depression

PERRYS

Dyscalculia

Disorder Of Arithmetical Skills

Mathematics Disorder

Developmental Arithmetic Disorder

Dysgraphia

Agraphia

Writing Disorder
Amyotrophic Lateral Sclerosis 11

Amyotrophic Lateral Sclerosis Type 11

ALS11

Sclerosis, Lateral, Amyotrophic, Type Type 11

Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia

Amyotrophic Lateral Sclerosis Type 10

ALS10

Amyotrophic Lateral Sclerosis 10, With Or Without Ftd

Frontotemporal Lobar Degeneration, Tardbp-Related

Amyotrophic Lateral Sclerosis 10

Amyotrophic Lateral Sclerosis 10, With Or Without Frontotemporal Dementia

Tardbp-Related Frontotemporal Lobar Degeneration With Tdp43 Inclusions

Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia And With Tdp43 Inclusions

Sclerosis, Lateral, Amyotrophic, Type Type 10

Amyotrophic Lateral Sclerosis 18

Amyotrophic Lateral Sclerosis Type 18

ALS18

Sclerosis, Lateral, Amyotrophic, Type 18

Amyotrophic Lateral Sclerosis 16, Juvenile

Amyotrophic Lateral Sclerosis Type 16

ALS16

Amyotrophic Lateral Sclerosis 16

Sclerosis, Lateral, Amyotrophic, Type 16, Juvenile

Mutism
Prosopagnosia
Paget'S Disease Of Bone

Osteitis Deformans

Paget Disease Of Bone

Osseous Paget'S Disease

Paget Disease Of Bone, Familial

Bone Paget Disease

Familial Paget'S Disease Of Bone

Paget'S Bone Disease

Familial Paget Disease Of Bone

Paget Disease, Bone

Pdb

Pagets Bone Disease

Agraphia
Aphasia
Amyotrophic Lateral Sclerosis 8

Amyotrophic Lateral Sclerosis Type 8

ALS8

Sclerosis, Lateral, Amyotrophic, Type Type 8

Amyotrophic Lateral Sclerosis Type 6

Amyotrophic Lateral Sclerosis 6, Autosomal Recessive

Als6

Amyotrophic Lateral Sclerosis 6, With Or Without Frontotemporal Dementia

Autosomal Recessive Amyotrophic Lateral Sclerosis 6

Sclerosis, Lateral, Amyotrophic, Type Type 6

Amyotrophic Lateral Sclerosis 6

Alexia

Dyslexia

Dyslexia, Acquired

Acquired Dyslexia

Aphemesthaesia

Supranuclear Palsy, Progressive, 1

Progressive Supranuclear Palsy

Steele-Richardson-Olszewski Syndrome

Supranuclear Palsy, Progressive

Progressive Supranuclear Ophthalmoplegia

Psp

PSNP1

Familial Progressive Supranuclear Palsy

Richardson'S Syndrome

Psp Syndrome

Progressive Supranuclear Palsy 1

Supranuclear Palsy Progressive

Ophthalmoplegia, Supranuclear, Progressive

Steele-Richardson-Olszewksi Syndrome

Progressive Muscular Atrophy

Progressive Spinal Muscular Atrophy

Pure Progressive Muscular Atrophy

Pma

Hereditary Spinal Muscle Atrophy

Pma - [Progressive Muscular Atrophy]

Progressive Muscle Atrophy

Progressive Spinal Muscle Atrophy

Duchenne-Aran Atrophy

Duchenne-Aran Muscle Atrophy

Hereditary Sma - [Spinal Muscle Atrophy]

Dementia, Lewy Body

Lewy Body Dementia

Lewy Body Disease

Diffuse Lewy Body Disease

Dementia With Lewy Bodies

DLB

Autosomal Dominant Diffuse Lewy Body Disease

Cortical Lewy Body Disease

Dementia, Lewy Body, Susceptibility To

Lewy Body Dementia, Susceptibility To

Senile Dementia Of The Lewy Body Type

Dementia Of The Lewy Body Type

Lbd

Diffuse Lewy Body Disease With Gaze Palsy

Dysphasic Dementia Hereditary

Lewy Body Type Senile Dementia

Lewy Body Variant Of Alzheimer Disease

Lewy Bodies

Lewy Body

Dlbd - [Diffuse Lewy Body Disease]

Clbd - [Cortical Lewy Body Disease]

Neuronal Ceroid Lipofuscinosis

Hereditary Ceroid Lipofuscinosis

Batten Disease

Ncl

Neuronal Ceroid-Lipofuscinoses

Lipofuscinosis, Ceroid, Neuronal

Juvenile Neuronal Ceroid Lipofuscinosis

Cerebromacular Dystrophy

Cerebromacular Degeneration

Ceroid-Lipofuscinosis

Ncl - [Neuronal Ceroid Lipofuscinosis]

Amaurotic Familial Idiocy

Amaurotic Idiocy

Amaurotic Idiot

Neuronal Lipofuscinosis

Pigmentary Retinal Lipoid Neuronal Heredodegeneration

Movement Disease

Movement Disorders

Movement Disorder

Speech Disorder

Speech Disorders

Hemochromatosis, Type 1

Hemochromatosis

Hemochromatosis Type 1

Hereditary Hemochromatosis

Hh

HFE1

Hfe Hemochromatosis, Modifier Of

Symptomatic Form Of Classic Hemochromatosis

Symptomatic Form Of Hemochromatosis Type 1

Symptomatic Form Of Hfe-Related Hereditary Hemochromatosis

Haemochromatosis

Iron Storage Disorder

Bronze Diabetes

Hereditary Haemochromatosis

Hlah

Hfe

Hemochromatosis, Hereditary

Diabetes Bronze

Classic Hemochromatosis

Hfe-Associated Hereditary Hemochromatosis

Hemochromatosis Classic

Bronzed Cirrhosis

Familial Hemochromatosis

Genetic Hemochromatosis

Hc

Pigmentary Cirrhosis

Primary Hemochromatosis

Troisier-Hanot-Chauffard Syndrome

Von Recklenhausen-Applebaum Disease

Hemochromatosis 1

Primary Hereditary Hemochromatosis

Bronze Cirrhosis

Motor Neuron Disease

Anterior Horn Cell Disease

Motor Neuron Diseases

Mnd - [Motor Neurone Disease]

Lou Gehrig Disease

Creeping Palsy

Creeping Paralysis

Bulbar Motor Neuron Disease

Bulbar Syndrome

Anterior Horn Cell Disorder

Hereditary Motor Neuron Disease

Parkinson Disease, Late-Onset

Parkinson Disease

Parkinson'S Disease

PD

PARK

Parkinson Disease, Susceptibility To

Late Onset Parkinson'S Disease

Late Onset Parkinson Disease

Paralysis Agitans

Primary Parkinsonism

Idiopathic Parkinson Disease

Parkinson'S

Parkinson Disease, Late-Onset, Susceptibility To

Parkinson Disease, Age Of Onset, Modifier

Lewy Body Parkinson Disease

Idiopathic Parkinson'S Disease

Pd - [Parkinson Disease]

Parkinson Disease Nos

Parkinson, Nos

Primary Parkinson Disease

Hereditary Spastic Paraplegia

Familial Spastic Paraplegia

Hereditary Spastic Paraparesis

Strumpell-Lorrain Disease

Familial Spastic Paraparesis

Hsp

Spg

Strümpell-Lorrain Disease

Spastic Paraplegia, Hereditary

French Settlement Disease

Strumpell-Lorrain Syndrome

Fsp

Spastic Paraplegia, Familial

Spastic Paraplegia Hereditary

Spastic Paraplegia 3, Autosomal Dominant

Spastic Paraparesis

Hereditary Spastic Paralysis

Familial Spastic Paralysis

Hereditary Spastic Ataxia

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

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
Canis familiaris CHMP2B VGNC VGNC:39223
Macaca mulatta CHMP2B VGNC VGNC:71091
Bos taurus CHMP2B VGNC VGNC:27301
Mus musculus CHMP2B MGD MGI:1916192
Rattus norvegicus CHMP2B RGD RGD:1306781
Felis catus CHMP2B VGNC VGNC:60863