Identity
HGNC
LOCATION
1q41
LOCUSID
ALIAS
RAB3-GAP150,RAB3GAP150,SPG69,WARBM2,p150
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 25782
MIM: 609275
HGNC: 17168
Ensembl: ENSG00000118873
Variants:
dbSNP: 25782
ClinVar: 25782
TCGA: ENSG00000118873
COSMIC: RAB3GAP2
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000118873 | ENST00000358951 | Q9H2M9 |
| ENSG00000118873 | ENST00000474178 | F8WDJ2 |
| ENSG00000118873 | ENST00000484658 | H7C4Y9 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 32248620 | 2021 | The Warburg Micro Syndrome-associated Rab3GAP-Rab18 module promotes autolysosome maturation through the Vps34 Complex I. | 12 |
| 32248620 | 2021 | The Warburg Micro Syndrome-associated Rab3GAP-Rab18 module promotes autolysosome maturation through the Vps34 Complex I. | 12 |
| 32376645 | 2020 | Hypogonadotropic hypogonadism due to variants in RAB3GAP2: expanding the phenotypic and genotypic spectrum of Martsolf syndrome. | 2 |
| 32740904 | 2020 | Micro and Martsolf syndromes in 34 new patients: Refining the phenotypic spectrum and further molecular insights. | 4 |
| 32376645 | 2020 | Hypogonadotropic hypogonadism due to variants in RAB3GAP2: expanding the phenotypic and genotypic spectrum of Martsolf syndrome. | 2 |
| 32740904 | 2020 | Micro and Martsolf syndromes in 34 new patients: Refining the phenotypic spectrum and further molecular insights. | 4 |
| 29419336 | 2018 | Case report of four siblings in southeast Turkey with a novel RAB3GAP2 splice site mutation: Warburg micro syndrome or Martsolf syndrome? | 3 |
| 29419336 | 2018 | Case report of four siblings in southeast Turkey with a novel RAB3GAP2 splice site mutation: Warburg micro syndrome or Martsolf syndrome? | 3 |
| 28342870 | 2017 | The RAB GTPase RAB18 modulates macroautophagy and proteostasis. | 24 |
| 28575017 | 2017 | FOXC1 modulates MYOC secretion through regulation of the exocytic proteins RAB3GAP1, RAB3GAP2 and SNAP25. | 5 |
| 28342870 | 2017 | The RAB GTPase RAB18 modulates macroautophagy and proteostasis. | 24 |
| 28575017 | 2017 | FOXC1 modulates MYOC secretion through regulation of the exocytic proteins RAB3GAP1, RAB3GAP2 and SNAP25. | 5 |
| 24891604 | 2014 | Rab18 and a Rab18 GEF complex are required for normal ER structure. | 56 |
| 25495476 | 2014 | RAB3GAP1 and RAB3GAP2 modulate basal and rapamycin-induced autophagy. | 42 |
| 24891604 | 2014 | Rab18 and a Rab18 GEF complex are required for normal ER structure. | 56 |
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-(rab3-gtpase-activating-non-catalytic-protein-subunit-2)
