BEST3 (bestrophin 3)

2014-11-01  

Identity

HGNC
BEST3
LOCATION
12q15
LOCUSID
144453
ALIAS
VMD2L3
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 144453
MIM: 607337
HGNC: 17105
Ensembl: ENSG00000127325

Variants:

dbSNP: 144453
ClinVar: 144453
TCGA: ENSG00000127325
COSMIC: BEST3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000127325ENST00000266661Q8N1M1
ENSG00000127325ENST00000330891Q8N1M1
ENSG00000127325ENST00000331471Q8N1M1
ENSG00000127325ENST00000476098E9PNM2
ENSG00000127325ENST00000488961Q8N1M1
ENSG00000127325ENST00000547208F8VVX2
ENSG00000127325ENST00000548658F8VR37
ENSG00000127325ENST00000551160Q8N1M1
ENSG00000127325ENST00000552295F8VZR0
ENSG00000127325ENST00000553096Q8N1M1

Expression (GTEx)

0
5
10
15
20
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

PathwaySourceExternal ID
Transmembrane transport of small moleculesREACTOMER-HSA-382551
Ion channel transportREACTOMER-HSA-983712
Stimuli-sensing channelsREACTOMER-HSA-2672351

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
308495462019Whole-exome sequencing in a Japanese pedigree implicates a rare non-synonymous single-nucleotide variant in BEST3 as a candidate for mandibular prognathism.2
308495462019Whole-exome sequencing in a Japanese pedigree implicates a rare non-synonymous single-nucleotide variant in BEST3 as a candidate for mandibular prognathism.2
253293242014Bestrophin 3 ameliorates TNFα-induced inflammation by inhibiting NF-κB activation in endothelial cells.10
253293242014Bestrophin 3 ameliorates TNFα-induced inflammation by inhibiting NF-κB activation in endothelial cells.10
192374322009Bestrophin expression and function in the human pancreatic duct cell line, CFPAC-1.8
192374322009Bestrophin expression and function in the human pancreatic duct cell line, CFPAC-1.8
174426702007Activation of bestrophin Cl- channels is regulated by C-terminal domains.22
174426702007Activation of bestrophin Cl- channels is regulated by C-terminal domains.22
120327382002Three novel human VMD2-like genes are members of the evolutionary highly conserved RFP-TM family.29
120327382002Three 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)