BEST2 (bestrophin 2)

2014-11-01  

Identity

HGNC
BEST2
LOCATION
19p13.13
LOCUSID
54831
ALIAS
VMD2L1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 54831
MIM: 607335
HGNC: 17107
Ensembl: ENSG00000039987

Variants:

dbSNP: 54831
ClinVar: 54831
TCGA: ENSG00000039987
COSMIC: BEST2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000039987ENST00000042931Q8NFU1
ENSG00000039987ENST00000549706Q8NFU1
ENSG00000039987ENST00000552539H0YIH1
ENSG00000039987ENST00000553030Q8NFU1

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
Salivary secretionKEGGko04970
Salivary secretionKEGGhsa04970
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
193980342009Functional roles of bestrophins in ocular epithelia.56
204072062010Bestrophin-2 mediates bicarbonate transport by goblet cells in mouse colon.46
120327382002Three novel human VMD2-like genes are members of the evolutionary highly conserved RFP-TM family.26
223604202012Proteomic analysis identifies dysfunction in cellular transport, energy, and protein metabolism in different brain regions of atypical frontotemporal lobar degeneration.18
201576192010Bestrophin 2 is expressed in human non-pigmented ciliary epithelium but not retinal pigment epithelium.7
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

Citation

Dessen P

BEST2 (bestrophin 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60740/best2