CHMP2B - charged multivesicular body protein 2B Gene
Also Known as DMT1; ALS17; VPS2B; VPS2-2; CHMP2.5; FTDALS7
Species: Homo sapiens
About CHMP2B
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 |
| 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 |
CHMP2B Protein Structure
Snf7: Snf7 (16 - 185)
- 0
- 100
- 200
- 213 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
charged multivesicular body protein 2b |
|
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 | 23051622 | |
|
Intra
|
CHMP2B | Q9UQN3 | CHMP3 | Homo sapiens | Q9Y3E7 | 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 |
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 |
|
|
| Amyotrophic Lateral Sclerosis 1 |
|
|
| Frontotemporal Dementia |
|
|
| Pick Disease Of Brain |
|
|
| Progressive Non-Fluent Aphasia |
|
|
| Amyotrophic Lateral Sclerosis 7 |
|
|
| Dementia |
|
|
| Lateral Sclerosis |
|
|
| Amyotrophic Lateral Sclerosis Type 14 |
|
|
| Speech And Communication Disorders |
|
|
| Associative Agnosia |
|
|
| Amyotrophic Lateral Sclerosis 9 |
|
|
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
|
| Amyotrophic Lateral Sclerosis Type 15 |
|
|
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
|
| Nominal Aphasia |
|
|
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
|
| Amyotrophic Lateral Sclerosis Type 12 |
|
|
| Color Agnosia |
|
|
| Spinocerebellar Ataxia 2 |
|
|
| Perry Syndrome |
|
|
| Dyscalculia |
|
|
| Dysgraphia |
|
|
| Writing Disorder |
|
|
| Amyotrophic Lateral Sclerosis 11 |
|
|
| Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
|
| Amyotrophic Lateral Sclerosis 18 |
|
|
| Amyotrophic Lateral Sclerosis 16, Juvenile |
|
|
| Mutism |
|
|
| Prosopagnosia |
|
|
| Paget'S Disease Of Bone |
|
|
| Agraphia |
|
|
| Aphasia |
|
|
| Amyotrophic Lateral Sclerosis 8 |
|
|
| Amyotrophic Lateral Sclerosis Type 6 |
|
|
| Alexia |
|
|
| Supranuclear Palsy, Progressive, 1 |
|
|
| Progressive Muscular Atrophy |
|
|
| Dementia, Lewy Body |
|
|
| Neuronal Ceroid Lipofuscinosis |
|
|
| Movement Disease |
|
|
| Speech Disorder |
|
|
| Hemochromatosis, Type 1 |
|
|
| Motor Neuron Disease |
|
|
| Parkinson Disease, Late-Onset |
|
|
| Hereditary Spastic Paraplegia |
|
|
| Charcot-Marie-Tooth Disease |
|
|
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 |