Identity
HGNC
LOCATION
11p15.4
LOCUSID
ALIAS
CMT4B2,DENND7B,MTMR13
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: 81846
MIM: 607697
HGNC: 2135
Ensembl: ENSG00000133812
Variants:
dbSNP: 81846
ClinVar: 81846
TCGA: ENSG00000133812
COSMIC: SBF2
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000133812 | ENST00000256190 | Q86WG5 |
| ENSG00000133812 | ENST00000420722 | H0Y767 |
| ENSG00000133812 | ENST00000530741 | H0YD05 |
| ENSG00000133812 | ENST00000532095 | H0YDZ1 |
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Vesicle-mediated transport | REACTOME | R-HSA-5653656 |
| Membrane Trafficking | REACTOME | R-HSA-199991 |
| RAB GEFs exchange GTP for GDP on RABs | REACTOME | R-HSA-8876198 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 34986146 | 2022 | The impact of SBF2 on taxane-induced peripheral neuropathy. | 4 |
| 34986146 | 2022 | The impact of SBF2 on taxane-induced peripheral neuropathy. | 4 |
| 27732968 | 2016 | Charcot-Marie-Tooth gene, SBF2, associated with taxane-induced peripheral neuropathy in African Americans. | 23 |
| 27732968 | 2016 | Charcot-Marie-Tooth gene, SBF2, associated with taxane-induced peripheral neuropathy in African Americans. | 23 |
| 25648148 | 2015 | Starvation-induced MTMR13 and RAB21 activity regulates VAMP8 to promote autophagosome-lysosome fusion. | 48 |
| 25648148 | 2015 | Starvation-induced MTMR13 and RAB21 activity regulates VAMP8 to promote autophagosome-lysosome fusion. | 48 |
| 23180869 | 2014 | Genome-wide association study of survival in patients with pancreatic adenocarcinoma. | 31 |
| 25462154 | 2014 | Identification of a novel SBF2 frameshift mutation in charcot-marie-tooth disease type 4B2 using whole-exome sequencing. | 3 |
| 23180869 | 2014 | Genome-wide association study of survival in patients with pancreatic adenocarcinoma. | 31 |
| 25462154 | 2014 | Identification of a novel SBF2 frameshift mutation in charcot-marie-tooth disease type 4B2 using whole-exome sequencing. | 3 |
| 23334996 | 2013 | Identification of a novel SBF2 missense mutation associated with a rare case of thrombocytopenia using whole-exome sequencing. | 6 |
| 23334996 | 2013 | Identification of a novel SBF2 missense mutation associated with a rare case of thrombocytopenia using whole-exome sequencing. | 6 |
| 20379614 | 2010 | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. | 78 |
| 20379614 | 2010 | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. | 78 |
| 19039035 | 2009 | Genome-wide association study identifies two novel loci containing FLNB and SBF2 genes underlying stature variation. | 16 |
Citation
Dessen P
SBF2 (SET binding factor 2)
Atlas Genet Cytogenet Oncol Haematol. 2014-03-01
Online version: http://atlasgeneticsoncology.org/gene/53828/sbf2-(set-binding-factor-2)
