SBF2 (SET binding factor 2)

2014-03-01 Affiliation

Identity

HGNC

SBF2

LOCATION

11p15.4

LOCUSID

81846

ALIAS

CMT4B2,DENND7B,MTMR13

FUSION GENES

Show Gene Fusions

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)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

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)

Not detected

Low

Medium

High

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/gene-fusions-explorer/js/lib/js/lib/gene-explorer/