RAB3GAP2 (RAB3 GTPase activating non-catalytic protein subunit 2)

2014-11-01  

Identity

HGNC
LOCATION
1q41
LOCUSID
ALIAS
RAB3-GAP150,RAB3GAP150,SPG69,WARBM2,p150
FUSION GENES

Other Information

Locus ID:

NCBI: 25782
MIM: 609275
HGNC: 17168
Ensembl: ENSG00000118873

Variants:

dbSNP: 25782
ClinVar: 25782
TCGA: ENSG00000118873
COSMIC: RAB3GAP2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000118873ENST00000358951Q9H2M9
ENSG00000118873ENST00000474178F8WDJ2
ENSG00000118873ENST00000484658H7C4Y9

Expression (GTEx)

0
5
10
15
20
25
30
35

Pathways

PathwaySourceExternal ID
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
Intra-Golgi and retrograde Golgi-to-ER trafficREACTOMER-HSA-6811442
Golgi-to-ER retrograde transportREACTOMER-HSA-8856688
COPI-independent Golgi-to-ER retrograde trafficREACTOMER-HSA-6811436
RAB GEFs exchange GTP for GDP on RABsREACTOMER-HSA-8876198

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
188499812008KIF1Bbeta- and KIF1A-mediated axonal transport of presynaptic regulator Rab3 occurs in a GTP-dependent manner through DENN/MADD.68
184854832008Rab GTPases and their roles in brain neurons and glia.49
248916042014Rab18 and a Rab18 GEF complex are required for normal ER structure.36
234205202013Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome.31
209674652011A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome.27
254954762014RAB3GAP1 and RAB3GAP2 modulate basal and rapamycin-induced autophagy.26
283428702017The RAB GTPase RAB18 modulates macroautophagy and proteostasis.14
231764872012RAB3GAP1, RAB3GAP2 and RAB18: disease genes in Micro and Martsolf syndromes.8
285750172017FOXC1 modulates MYOC secretion through regulation of the exocytic proteins RAB3GAP1, RAB3GAP2 and SNAP25.3
294193362018Case report of four siblings in southeast Turkey with a novel RAB3GAP2 splice site mutation: Warburg micro syndrome or Martsolf syndrome?1

Citation

Dessen P

RAB3GAP2 (RAB3 GTPase activating non-catalytic protein subunit 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/72456/rab3gap2