SBF2 (SET binding factor 2)

2014-03-01  

Identity

HGNC
LOCATION
11p15.4
LOCUSID
ALIAS
CMT4B2,DENND7B,MTMR13
FUSION GENES

Other Information

Locus ID:

NCBI: 81846
MIM: 607697
HGNC: 2135
Ensembl: ENSG00000133812

Variants:

dbSNP: 81846
ClinVar: 81846
TCGA: ENSG00000133812
COSMIC: SBF2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000133812ENST00000256190Q86WG5
ENSG00000133812ENST00000420722H0Y767
ENSG00000133812ENST00000530741H0YD05
ENSG00000133812ENST00000532095H0YDZ1

Expression (GTEx)

0
5
10
15
20
25
30
35

Pathways

PathwaySourceExternal ID
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
RAB GEFs exchange GTP for GDP on RABsREACTOMER-HSA-8876198

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
199362222009Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.151
126874982003Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma.75
184299272008Endosomal phosphoinositides and human diseases.63
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
159986402005The phosphoinositide-3-phosphatase MTMR2 associates with MTMR13, a membrane-associated pseudophosphatase also mutated in type 4B Charcot-Marie-Tooth disease.39
187747182008PtdIns5P regulation through evolution: roles in membrane trafficking?30
256481482015Starvation-induced MTMR13 and RAB21 activity regulates VAMP8 to promote autophagosome-lysosome fusion.28
178807512007Charcot-Marie-Tooth type 4B demyelinating neuropathy: deciphering the role of MTMR phosphatases.22
231808692014Genome-wide association study of survival in patients with pancreatic adenocarcinoma.21
190390352009Genome-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)