BEST4 (bestrophin 4)

2014-11-01  

Identity

HGNC
BEST4
LOCATION
1p34.1
LOCUSID
266675
ALIAS
VMD2L2

Other Information

Locus ID:

NCBI: 266675
MIM: 607336
HGNC: 17106
Ensembl: ENSG00000142959

Variants:

dbSNP: 266675
ClinVar: 266675
TCGA: ENSG00000142959
COSMIC: BEST4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000142959ENST00000372207Q8NFU0

Expression (GTEx)

0
5
10
15
20
25
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
N/A

References

Pubmed IDYearTitleCitations
120327382002Three novel human VMD2-like genes are members of the evolutionary highly conserved RFP-TM family.26
192374322009Bestrophin expression and function in the human pancreatic duct cell line, CFPAC-1.6
242239982013Lineage-specific expression of bestrophin-2 and bestrophin-4 in human intestinal epithelial cells.6
167023552006Ca2+-activated Cl- current from human bestrophin-4 in excised membrane patches.0

Citation

Dessen P

BEST4 (bestrophin 4)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60742/best4