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: 144453
MIM: 607337
HGNC: 17105
Ensembl: ENSG00000127325
Variants:
dbSNP: 144453
ClinVar: 144453
TCGA: ENSG00000127325
COSMIC: BEST3
RNA/Proteins
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Transmembrane transport of small molecules | REACTOME | R-HSA-382551 |
| Ion channel transport | REACTOME | R-HSA-983712 |
| Stimuli-sensing channels | REACTOME | R-HSA-2672351 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 30849546 | 2019 | Whole-exome sequencing in a Japanese pedigree implicates a rare non-synonymous single-nucleotide variant in BEST3 as a candidate for mandibular prognathism. | 2 |
| 30849546 | 2019 | Whole-exome sequencing in a Japanese pedigree implicates a rare non-synonymous single-nucleotide variant in BEST3 as a candidate for mandibular prognathism. | 2 |
| 25329324 | 2014 | Bestrophin 3 ameliorates TNFα-induced inflammation by inhibiting NF-κB activation in endothelial cells. | 10 |
| 25329324 | 2014 | Bestrophin 3 ameliorates TNFα-induced inflammation by inhibiting NF-κB activation in endothelial cells. | 10 |
| 19237432 | 2009 | Bestrophin expression and function in the human pancreatic duct cell line, CFPAC-1. | 8 |
| 19237432 | 2009 | Bestrophin expression and function in the human pancreatic duct cell line, CFPAC-1. | 8 |
| 17442670 | 2007 | Activation of bestrophin Cl- channels is regulated by C-terminal domains. | 22 |
| 17442670 | 2007 | Activation of bestrophin Cl- channels is regulated by C-terminal domains. | 22 |
| 12032738 | 2002 | Three novel human VMD2-like genes are members of the evolutionary highly conserved RFP-TM family. | 29 |
| 12032738 | 2002 | Three novel human VMD2-like genes are members of the evolutionary highly conserved RFP-TM family. | 29 |
Citation
Dessen P
BEST3 (bestrophin 3)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/60741/best3-(bestrophin-3)
