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Best1 Gene Detail
Summary
  • Symbol
    Best1
  • Name
    bestrophin 1
  • Synonyms
    best macular dystrophy, mBest1, Vmd2
  • Feature Type
    protein coding gene
  • IDs
    MGI:1346332
    NCBI Gene: 24115
  • Gene Overview
    MyGene.info: BEST1
Location & Maps
more
  • Sequence Map
    Chr19:9985174-10001633 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      16460 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 19, 6.24 cM, cytoband B
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    BEST1, bestrophin 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    BEST1, bestrophin 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    ARB, BEST, BMD, RP50, TU15B, VMD2
  • Links
    NCBI Gene ID: 7439
    neXtProt AC: NX_O76090

  • Chr Location
    11q13; chr11:61946715-61964463 (+)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 37895
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;1 zebrafish
  • HCOP
    human homology predictions: BEST1
  • Gene Tree
Human Diseases
more
  • Diseases
    2 with Best1 mouse models; 4 with human BEST1 associations

Human Disease Mouse Models
       Bestrophinopathy, Autosomal Recessive; ARB   OMIM: 611809 View 2 models
Macular Dystrophy, Vitelliform, 2; VMD2   OMIM: 153700 View 2 models
       Retinitis Pigmentosa 50; RP50   OMIM: 613194
Vitreoretinochoroidopathy; VRCP   OMIM: 193220
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    16 phenotypes from 3 alleles in 4 genetic backgrounds
    1 images
    5 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Homozygous null mutations of this gene generally result in abnormal retinal pigment epithelium morphology and/or altered eye electrophysiology. Homozygotes for a null allele show male subfertility associated with abnormal sperm morphology and reduced motility in the absence of retinal pathology.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000028256 VEGA Gene Model | MGI Sequence Detail 16460 C57BL/6J ±  kb
transcript OTTMUST00000070017 VEGA | MGI Sequence Detail 2080 Not Applicable  
polypeptide OTTMUSP00000035635 VEGA | MGI Sequence Detail 551 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    168 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 7
    cDNA 7

    Microarray probesets 3
References
more
  • Summaries
    All 43
    Developmental Gene Expression 1
    Diseases 1
    Gene Ontology 6
    Phenotypes 5
  • Earliest
    J:57560 Petrukhin K, et al., Identification of the gene responsible for Best macular dystrophy. Nat Genet. 1998 Jul;19(3):241-7
  • Latest
    J:221655 Milenkovic A, et al., Bestrophin 1 is indispensable for volume regulation in human retinal pigment epithelium cells. Proc Natl Acad Sci U S A. 2015 May 19;112(20):E2630-9

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
07/19/2016
MGI 6.04
The Jackson Laboratory