CHMP2B - charged multivesicular body protein 2B Gene

Also Known as DMT1; ALS17; VPS2B; VPS2-2; CHMP2.5; FTDALS7

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 25978

About 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.

Summary

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 Products (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
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
16730941 GOA
enables protein domain specific binding IPI
IPI: Inferred from physical interaction
17928862 GOA
Biological Process GO Annotation Evidence References Source
involved in autophagosome maturation IMP
IMP: Inferred from mutant phenotype
17984323 GOA
involved in autophagy IMP
IMP: Inferred from mutant phenotype
17984323 GOA
involved in cognition IMP
IMP: Inferred from mutant phenotype
16041373 GOA
involved in endosome organization IMP
IMP: Inferred from mutant phenotype
16041373 GOA
involved in late endosome to lysosome transport IMP
IMP: Inferred from mutant phenotype
17984323 GOA
involved in midbody abscission IMP
IMP: Inferred from mutant phenotype
20616062 GOA
involved in mitotic metaphase chromosome alignment IMP
IMP: Inferred from mutant phenotype
20616062 GOA
involved in multivesicular body sorting pathway IDA
IDA: Inferred from direct assay
16554368 GOA
involved in neuron cellular homeostasis IMP
IMP: Inferred from mutant phenotype
16041373 GOA
involved in nuclear membrane reassembly IMP
IMP: Inferred from mutant phenotype
26040713 GOA
involved in nucleus organization IMP
IMP: Inferred from mutant phenotype
20616062 GOA
involved in plasma membrane repair IDA
IDA: Inferred from direct assay
24482116 GOA
involved in regulation of centrosome duplication IMP
IMP: Inferred from mutant phenotype
20616062 GOA
involved in regulation of mitotic spindle assembly IMP
IMP: Inferred from mutant phenotype
20616062 GOA
involved in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway IDA
IDA: Inferred from direct assay
17984323 GOA
involved in viral budding from plasma membrane IDA
IDA: Inferred from direct assay
24878737 GOA
involved in viral budding via host ESCRT complex IDA
IDA: Inferred from direct assay
24878737 GOA
involved in viral budding via host ESCRT complex IGI
IGI: Inferred from genetic interaction
24107264 GOA
involved in viral budding via host ESCRT complex IMP
IMP: Inferred from mutant phenotype
23051622 GOA
involved in viral release from host cell IGI
IGI: Inferred from genetic interaction
23051622 GOA
involved in viral release from host cell IMP
IMP: Inferred from mutant phenotype
23051622 GOA
Cellular Component GO Annotation Evidence References Source
part of ESCRT III complex IDA
IDA: Inferred from direct assay
24878737 GOA
located in amphisome membrane IDA
IDA: Inferred from direct assay
17984323 GOA
located in autophagosome membrane IDA
IDA: Inferred from direct assay
17984323 GOA
located in cytoplasm IDA
IDA: Inferred from direct assay
24878737 GOA
located in cytosol IDA
IDA: Inferred from direct assay
16041373 GOA
colocalizes with endosome IDA
IDA: Inferred from direct assay
24878737 GOA
located in kinetochore IDA
IDA: Inferred from direct assay
26040712 GOA
located in kinetochore microtubule IDA
IDA: Inferred from direct assay
26040712 GOA
colocalizes with late endosome IDA
IDA: Inferred from direct assay
16041373 GOA
located in lysosomal membrane IDA
IDA: Inferred from direct assay
17984323 GOA
colocalizes with lysosome IDA
IDA: Inferred from direct assay
16041373 GOA
located in midbody IDA
IDA: Inferred from direct assay
26040712 GOA
located in multivesicular body membrane IDA
IDA: Inferred from direct assay
16554368 GOA
part of nuclear pore IDA
IDA: Inferred from direct assay
26040713 GOA
colocalizes with plasma membrane IDA
IDA: Inferred from direct assay
24878737 GOA
located in plasma membrane IDA
IDA: Inferred from direct assay
24878737 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

CHMP2B Protein Structure

Snf7

Snf7: Snf7 (16 - 185)

  • 0
  • 100
  • 200
  • 213 a.a.
Protein Preferred Names Protein Names

charged multivesicular body protein 2b

  • VPS2 homolog B

CHMP2B Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
CHMP2B Q9UQN3 CHMP3 Homo sapiens Q9Y3E7
SPR
23051622
Intra
CHMP2B Q9UQN3 CHMP3 Homo sapiens Q9Y3E7
Y2H
16730941
Cross
CHMP2B Q9UQN3 P0C6X7-PRO_0000037309 Human SARS coronavirus P0C6X7-PRO_0000037309 22046132
Cross
CHMP2B Q9UQN3 P0C6X7-PRO_0000037309 Human SARS coronavirus P0C6X7-PRO_0000037309 22046132
Cross
CHMP2B Q9UQN3 P0C6X7-PRO_0000037316 Human SARS coronavirus P0C6X7-PRO_0000037316 22046132
Cross
CHMP2B Q9UQN3 P0C6X7-PRO_0000037316 Human SARS coronavirus P0C6X7-PRO_0000037316 22046132
Intra
CHMP2B Q9UQN3 TERF2IP Homo sapiens Q9NYB0 21044950
Cross: Cross-species interaction Intra: Intraspecies interaction

CHMP2B Antibodies

Cat. No. Product Name Application Reactivity
HY-P83110 CHMP2B Antibody (YA2855) WB, ICC/IF, IP, FC Human, Mouse, Rat

Related Diseases

Diseases Alias
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

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

Orthologs Information

Species Symbol Source 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
Others CHMP2B NCBI