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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
  • Alliance
    genome feature page
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr19:9962538-9978997 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 19, 6.24 cM, cytoband B
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    495 from dbSNP Build 142
  • Strain Annotations
    19
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1346332
 protein coding gene Chr19:9962536-9978997 (-)
129S1/SvImJ ENSMUSG00200049560
 protein coding gene Chr19:6640235-6657818 (-)
A/J ENSMUSG00195049031
 protein coding gene Chr19:6850084-6867461 (-)
AKR/J ENSMUSG00220049041
 protein coding gene Chr19:6760775-6778378 (-)
BALB/cJ ENSMUSG00180039308
 protein coding gene Chr19:7214072-7231441 (-)
C3H/HeJ ENSMUSG00175008849
 protein coding gene Chr19:6487763-6505126 (-)
C57BL/6NJ ENSMUSG00215040414
 protein coding gene Chr19:6557568-6575145 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0022677
 protein coding gene Chr19:7208617-7225194 (-)
CAST/EiJ ENSTCUG00005039793
 protein coding gene Chr19:6348521-6365628 (-)
CBA/J ENSMUSG00210045658
 protein coding gene Chr19:6688293-6705874 (-)
DBA/2J ENSMUSG00185052036
 protein coding gene Chr19:7098020-7115608 (-)
FVB/NJ ENSMUSG00205042977
 protein coding gene Chr19:6579925-6597520 (-)
JF1/MsJ ENSUMUG00000047759
 protein coding gene Chr19:7218327-7234150 (-)
LP/J ENSMUSG00230052520
 protein coding gene Chr19:8014956-8032537 (-)
NOD/ShiLtJ ENSMUSG00190032919
 protein coding gene Chr19:6313467-6331066 (-)
NZO/HlLtJ ENSMUSG00225044075
 protein coding gene Chr19:11723792-11741373 (-)
PWK/PhJ ENSLUMG00010003947
 protein coding gene Chr19:6603856-6619645 (-)
SPRET/EiJ ENSMSPG00010045598
 protein coding gene Chr19:6450775-6466627 (-)
WSB/EiJ ENSIUOG00005046934
 protein coding gene Chr19:6205812-6223202 (-)



Homology
more
  • Human Ortholog
    BEST1, bestrophin 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    BEST1, bestrophin 1
  • Synonyms
    ARB, BEST, Best1V1Delta2, BMD, RP50, TU15B, VMD2
  • Links
    NCBI Gene ID: 7439
    UniProt: O76090

  • Chr Location
    11q12.3; chr11:61949821-61965515 (+)  GRCh38
Human Diseases
more
  • Diseases
    2 with Best1 mouse models; 5 with human BEST1 associations

Human Disease Mouse Models
      
IDs
 View 2 models
IDs
 View 2 models
      
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    18 phenotypes from 4 alleles in 6 genetic backgrounds
    1 images
    16 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
less
  • All GO Annotations
    44
  • GO References
    14
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    606
  • Tissues
    4
  • cDNA Data
    8
  • Literature Summary
    3
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000037418 Ensembl Gene Model | MGI Sequence Detail 16460 C57BL/6J ±  kb
    transcript ENSMUST00000117346 Ensembl | MGI Sequence Detail 2080 Not Applicable  
    polypeptide ENSMUSP00000113053 Ensembl | MGI Sequence Detail 551 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 9
      cDNA 8
      Primer pair 1
      Antibodies 1

      Microarray probesets 3
    References
    more
    • Summaries
      All 80
      Developmental Gene Expression 3
      Diseases 2
      Gene Ontology 14
      Phenotypes 16
    • 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:391655 Xiong S, et al., BEST1-mediated tonic excitation facilitates anxiety-like behaviors in a mouse model of chronic neuropathic pain. Cell Rep. 2026 Apr 8;45(4):117229
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    09/08/2026
    MGI 6.24     		The Jackson Laboratory