BEST1 (bestrophin 1)

2014-11-01  

Identity

HGNC
BEST1
LOCATION
11q12.3
LOCUSID
7439
ALIAS
ARB,BEST,BMD,Best1V1Delta2,RP50,TU15B,VMD2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 7439
MIM: 607854
HGNC: 12703
Ensembl: ENSG00000167995

Variants:

dbSNP: 7439
ClinVar: 7439
TCGA: ENSG00000167995
COSMIC: BEST1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000167995ENST00000378043O76090
ENSG00000167995ENST00000449131O76090
ENSG00000167995ENST00000524926A0A0C4DGE9
ENSG00000167995ENST00000526988B7Z1N8
ENSG00000167995ENST00000534553E9PMB5

Expression (GTEx)

0
10
20
30
40
50
60
70
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
retina
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
369082342024Typical best vitelliform dystrophy secondary to biallelic variants in BEST1.0
377178272024The Retinal Phenotype Associated with the p.Pro101Thr BEST1 Variant.0
369082342024Typical best vitelliform dystrophy secondary to biallelic variants in BEST1.0
377178272024The Retinal Phenotype Associated with the p.Pro101Thr BEST1 Variant.0
363785622023BEST1 novel mutation causes Bestrophinopathies in six families with distinct phenotypic diversity.1
364502052023Photoreceptor function and structure in retinal degenerations caused by biallelic BEST1 mutations.4
377474032023Comprehensive Genetic Analysis Unraveled the Missing Heritability and a Founder Variant of BEST1 in a Chinese Cohort With Autosomal Recessive Bestrophinopathy.0
363785622023BEST1 novel mutation causes Bestrophinopathies in six families with distinct phenotypic diversity.1
364502052023Photoreceptor function and structure in retinal degenerations caused by biallelic BEST1 mutations.4
377474032023Comprehensive Genetic Analysis Unraveled the Missing Heritability and a Founder Variant of BEST1 in a Chinese Cohort With Autosomal Recessive Bestrophinopathy.0
343278162022Disease expression caused by different variants in the BEST1 gene: genotype and phenotype findings in bestrophinopathies.2
347516232022Clinical reassessments and whole-exome sequencing uncover novel BEST1 mutation associated with bestrophinopathy phenotype.0
352765352022Self-organization and surface properties of hBest1 in models of biological membranes.1
358064382022Impaired Bestrophin Channel Activity in an iPSC-RPE Model of Best Vitelliform Macular Dystrophy (BVMD) from an Early Onset Patient Carrying the P77S Dominant Mutation.1
359734422022Genetic and clinical features of BEST1-associated retinopathy based on 59 Chinese families and database comparisons.1

Citation

Dessen P

BEST1 (bestrophin 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60739/js/favicon/favicon/favicon-16x16.png