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
349025112022Low expression of bestrophin-2 is associated with poor prognosis in colon cancer.1
349025112022Low expression of bestrophin-2 is associated with poor prognosis in colon cancer.1
242239982013Lineage-specific expression of bestrophin-2 and bestrophin-4 in human intestinal epithelial cells.21
242239982013Lineage-specific expression of bestrophin-2 and bestrophin-4 in human intestinal epithelial cells.21
223604202012Proteomic analysis identifies dysfunction in cellular transport, energy, and protein metabolism in different brain regions of atypical frontotemporal lobar degeneration.24
223604202012Proteomic analysis identifies dysfunction in cellular transport, energy, and protein metabolism in different brain regions of atypical frontotemporal lobar degeneration.24
201576192010Bestrophin 2 is expressed in human non-pigmented ciliary epithelium but not retinal pigment epithelium.10
204072062010Bestrophin-2 mediates bicarbonate transport by goblet cells in mouse colon.57
201576192010Bestrophin 2 is expressed in human non-pigmented ciliary epithelium but not retinal pigment epithelium.10
204072062010Bestrophin-2 mediates bicarbonate transport by goblet cells in mouse colon.57
192374322009Bestrophin expression and function in the human pancreatic duct cell line, CFPAC-1.8
193980342009Functional roles of bestrophins in ocular epithelia.68
192374322009Bestrophin expression and function in the human pancreatic duct cell line, CFPAC-1.8
193980342009Functional roles of bestrophins in ocular epithelia.68
120327382002Three novel human VMD2-like genes are members of the evolutionary highly conserved RFP-TM family.29

Citation

Dessen P

BEST2 (bestrophin 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60740/teaching-explorer/css/lib/dataTables.bootstrap.min.css