Identity
HGNC
LOCATION
3p25.1
LOCUSID
ALIAS
Rabenosyn-5,ZFYVE20
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: 64145
MIM: 609511
HGNC: 20759
Ensembl: ENSG00000131381
Variants:
dbSNP: 64145
ClinVar: 64145
TCGA: ENSG00000131381
COSMIC: RBSN
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 35652444 | 2022 | RABENOSYN separation-of-function mutations uncouple endosomal recycling from lysosomal degradation, causing a distinct Mendelian disorder. | 0 |
| 35652444 | 2022 | RABENOSYN separation-of-function mutations uncouple endosomal recycling from lysosomal degradation, causing a distinct Mendelian disorder. | 0 |
| 31988382 | 2020 | FERARI is required for Rab11-dependent endocytic recycling. | 35 |
| 31988382 | 2020 | FERARI is required for Rab11-dependent endocytic recycling. | 35 |
| 29784638 | 2018 | Syndromic congenital myelofibrosis associated with a loss-of-function variant in RBSN. | 0 |
| 29784638 | 2018 | Syndromic congenital myelofibrosis associated with a loss-of-function variant in RBSN. | 0 |
| 25233840 | 2014 | Single point mutation in Rabenosyn-5 in a female with intractable seizures and evidence of defective endocytotic trafficking. | 13 |
| 25233840 | 2014 | Single point mutation in Rabenosyn-5 in a female with intractable seizures and evidence of defective endocytotic trafficking. | 13 |
| 22308388 | 2012 | Rabenosyn-5 defines the fate of the transferrin receptor following clathrin-mediated endocytosis. | 44 |
| 22308388 | 2012 | Rabenosyn-5 defines the fate of the transferrin receptor following clathrin-mediated endocytosis. | 44 |
| 19931244 | 2010 | Common and distinct roles for the binding partners Rabenosyn-5 and Vps45 in the regulation of endocytic trafficking in mammalian cells. | 27 |
| 19931244 | 2010 | Common and distinct roles for the binding partners Rabenosyn-5 and Vps45 in the regulation of endocytic trafficking in mammalian cells. | 27 |
| 16034420 | 2005 | Structural basis of family-wide Rab GTPase recognition by rabenosyn-5. | 111 |
| 16034420 | 2005 | Structural basis of family-wide Rab GTPase recognition by rabenosyn-5. | 111 |
Citation
Dessen P
RBSN (rabenosyn, RAB effector)
Atlas Genet Cytogenet Oncol Haematol. 2016-10-01
Online version: http://atlasgeneticsoncology.org/gene/56002/rbsn-(rabenosyn-rab-effector)
