| Type | Description |
|---|---|
| Definition | charged multivesicular body protein 2B |
| Date | Results | Publications |
|---|---|---|
| 2020-05-30 12:57:00 | Results suggest dysregulation of CHMP2B together with tau-pathology and possibly a disturbance of the regulation of vesicular compartments. The absence of combined Abeta- and tau-associated pathology in the transgenic mice may account for the difference in CHMP2B-immunoreactivity between the transgenic mice and human hippocampus. | 30414727 |
| 2017-07-22 12:37:00 | We directly link TDP-43 loss of function toxicity to two genes with rare amyotrophic lateral sclerosis and frontotemporal lobar degeneration-causing mutations, CHMP2B and ErbB4 | 27621269 |
| 2017-06-24 10:12:00 | these data indicate that the neuronal expression of human CHMP2B(intron5) in areas involved in motor and cognitive functions induces progressive motor alterations associated with dementia symptoms and with histopathological hallmarks reminiscent of both amyotrophic lateral sclerosis and frontotemporal dementia. | 27329763 |
| 2016-10-01 11:56:00 | Endogenous TMEM106B was partly sequestered in CHMP2B-positive structures. SNP T185 was more associated with CHMP2B than SNP S185, and it enhanced neurotoxicity caused by CHMP2B(Intron5) compared to S185-expressing cells. | 26651479 |
| 2016-07-02 10:58:00 | Study showed that mutant CHMP2B causes the pathological accumulation of endolysosomal components early in the frontotemporal dementia disease course | 26358247 |
| Type | IDs |
|---|---|
| Synonymous | ALS17, CHMP2.5, DMT1, VPS2-2, VPS2B |
| Gene |
UniProtKB-ID:
CHM2B_HUMAN,
B2RE76_HUMAN
UniprotKB:
Q9UQN3,
B2RE76
UniParc:
UPI00017A722E,
UPI00000701F8
EMBL:
AC123511,
AK002165,
AK316585,
CR533456,
AK222654,
AC130885,
CH471110,
BC001553,
AK002180,
AK296072,
AF151842,
AL080122
Ensembl:
ENSG00000083937
KO:
hsa:25978
|
| Nucleutide sequences |
EMBL-CDS:
BAG58830.1,
BAD96374.1,
AAH01553.1,
AAD34079.1,
CAG38487.1,
CAB45721.1,
BAG51022.1,
BAG38173.1,
EAW68868.1,
BAG51025.1
Gene_ORFName:
CGI-84,
hCG_27849
Ensembl_TRS:
ENST00000471660,
ENST00000263780
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000419998,
ENSP00000263780
RefSeq:
NP_054762.2,
XP_011531878.1,
NP_001231573.1
|
| Others |
UniRef100:
UniRef100_Q9UQN3
UniRef90:
UniRef90_Q9UQN3
UniRef50:
UniRef50_Q9UQN3
UniGene:
Hs.476930
CCDS:
CCDS2918.1,
CCDS58840.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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