| Type | Description |
|---|---|
| Definition | RAB39B, member RAS oncogene family |
| Date | Results | Publications |
|---|---|---|
| 2018-07-28 10:45:00 | we report on two novel RAB39B frameshift variants associated with X-linked Parkinsonism associated with Intellectual Disability and we also describe, for the first time, a somatic mosaicism in a patient carrying RAB39B mutation | 28851564 |
| 2018-06-16 11:20:00 | results suggest that RAB39B mutation is very rare in familial PD and may not be a major cause of familial PD in the Chinese Han Population | 27694831 |
| 2018-05-19 11:20:00 | This study identified two patients carrying a variant in RAB39B out of 344 male patients with Parkinsonsim. | 27448726 |
| 2018-04-21 10:53:00 | Direct sequencing analysis of all coding exons and exon-intron boundaries was performed to detect small sequence alterations in RAB39B gene | 27036214 |
| 2018-03-24 11:19:00 | penetrance for autism spectrum disorder is high among males but more variable among females with RAB39B mutations; a critical role for this gene in brain development and function is demonstrated | 29152164 |
| Type | IDs |
|---|---|
| Synonymous | BGMR, MRX72, WSMN, WSN |
| Gene |
UniProtKB-ID:
RB39B_HUMAN
UniprotKB:
Q96DA2
UniParc:
UPI00000412A6
EMBL:
AL834460,
AL356738,
AY052478,
BC009714
Ensembl:
ENSG00000155961
KO:
hsa:116442
|
| Nucleutide sequences |
EMBL-CDS:
AAL12244.1,
CAD39120.1,
AAH09714.1,
CAI41468.1
Ensembl_TRS:
ENST00000369454
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000358466
RefSeq:
NP_741995.1
|
| Others |
UniRef100:
UniRef100_Q96DA2
UniRef90:
UniRef90_Q96DA2
UniRef50:
UniRef50_Q96DA2
UniGene:
Hs.632832
CCDS:
CCDS14766.1
|
| {{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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