RAB39B (RAB39B, member RAS oncogene family)

2003-12-01  

Identity

HGNC
LOCATION
Xq28
LOCUSID
ALIAS
BGMR,MRX72,WSMN,WSN

Other Information

Locus ID:

NCBI: 116442
MIM: 311510
HGNC: 16499
Ensembl: ENSG00000155961

Variants:

dbSNP: 116442
ClinVar: 116442
TCGA: ENSG00000155961
COSMIC: RAB39B

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000155961ENST00000369454Q96DA2

Expression (GTEx)

0
5
10
15
20
25

Pathways

PathwaySourceExternal ID
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
RAB GEFs exchange GTP for GDP on RABsREACTOMER-HSA-8876198
RAB geranylgeranylationREACTOMER-HSA-8873719

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
201591092010Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly.75
254340052014Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology.58
240064912013Identification and characterization of multiple novel Rab-myosin Va interactions.33
263995582015The RAB39B p.G192R mutation causes X-linked dominant Parkinson's disease.30
257845382015The intellectual disability protein RAB39B selectively regulates GluA2 trafficking to determine synaptic AMPAR composition.29
243574922014Increased dosage of RAB39B affects neuronal development and could explain the cognitive impairment in male patients with distal Xq28 copy number gains.18
124387422002Isolation and characterization of a human novel RAB (RAB39B) gene.12
261639852015Genetic analysis of the RAB39B gene in Chinese Han patients with Parkinson's disease.9
274599312016RAB39B gene mutations are not a common cause of Parkinson's disease or dementia with Lewy bodies.5
279434712016A novel RAB39B gene mutation in X-linked juvenile parkinsonism with basal ganglia calcification.4

Citation

Dessen P

RAB39B (RAB39B, member RAS oncogene family)

Atlas Genet Cytogenet Oncol Haematol. 2003-12-01

Online version: http://atlasgeneticsoncology.org/gene/41988/rab39b