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
382938222024Novel RAB39B Mutation Causes Parkinsonism in Males with Developmental Disorder.0
382938222024Novel RAB39B Mutation Causes Parkinsonism in Males with Developmental Disorder.0
367159212023Deficiency of RAB39B Activates ER Stress-Induced Pro-apoptotic Pathway and Causes Mitochondrial Dysfunction and Oxidative Stress in Dopaminergic Neurons by Impairing Autophagy and Upregulating α-Synuclein.2
367159212023Deficiency of RAB39B Activates ER Stress-Induced Pro-apoptotic Pathway and Causes Mitochondrial Dysfunction and Oxidative Stress in Dopaminergic Neurons by Impairing Autophagy and Upregulating α-Synuclein.2
347612592022Clinical characterization of a novel RAB39B nonstop mutation in a family with ASD and severe ID causing RAB39B downregulation and study of a Rab39b knock down mouse model.4
347612592022Clinical characterization of a novel RAB39B nonstop mutation in a family with ASD and severe ID causing RAB39B downregulation and study of a Rab39b knock down mouse model.4
327620912021RAB39B is redistributed in dementia with Lewy bodies and is sequestered within aβ plaques and Lewy bodies.6
327620912021RAB39B is redistributed in dementia with Lewy bodies and is sequestered within aβ plaques and Lewy bodies.6
278380472017Lack of RAB39B mutations in early-onset and familial Parkinson's disease in a Taiwanese cohort.3
288515642017X-linked Parkinsonism with Intellectual Disability caused by novel mutations and somatic mosaicism in RAB39B gene.17
291521642017Mutations in RAB39B in individuals with intellectual disability, autism spectrum disorder, and macrocephaly.25
278380472017Lack of RAB39B mutations in early-onset and familial Parkinson's disease in a Taiwanese cohort.3
288515642017X-linked Parkinsonism with Intellectual Disability caused by novel mutations and somatic mosaicism in RAB39B gene.17
291521642017Mutations in RAB39B in individuals with intellectual disability, autism spectrum disorder, and macrocephaly.25
267392472016RAB39B mutations are a rare finding in Parkinson disease patients.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