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Best2 Gene Detail
Summary
  • Symbol
    Best2
  • Name
    bestrophin 2
  • Synonyms
    Vmd2l1
  • Feature Type
    protein coding gene
  • IDs
    MGI:2387588
    NCBI Gene: 212989
  • Alliance
    gene page
Location &
Maps
more
  • Sequence Map
    Chr8:85733831-85741160 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 8, 41.46 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    258 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2387588
 protein coding gene Chr8:85733831-85741160 (-)
129S1/SvImJ MGP_129S1SvImJ_G0033886
 protein coding gene Chr8:85951632-85960434 (-)
A/J MGP_AJ_G0033869
 protein coding gene Chr8:82554071-82562181 (-)
AKR/J MGP_AKRJ_G0033795
 protein coding gene Chr8:85008480-85015712 (-)
BALB/cJ MGP_BALBcJ_G0033862
 protein coding gene Chr8:82689971-82698875 (-)
C3H/HeJ MGP_C3HHeJ_G0033572
 protein coding gene Chr8:85625234-85635048 (-)
C57BL/6NJ MGP_C57BL6NJ_G0034382
 protein coding gene Chr8:89241508-89248225 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0031323
 protein coding gene Chr8:76356915-76364315 (-)
CAST/EiJ MGP_CASTEiJ_G0032902
 protein coding gene Chr8:85059615-85067661 (-)
CBA/J MGP_CBAJ_G0033548
 protein coding gene Chr8:92264153-92271060 (-)
DBA/2J MGP_DBA2J_G0033701
 protein coding gene Chr8:82194268-82201653 (-)
FVB/NJ MGP_FVBNJ_G0033649
 protein coding gene Chr8:81152452-81160098 (-)
LP/J MGP_LPJ_G0033793
 protein coding gene Chr8:86054881-86061894 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0033691
 protein coding gene Chr8:94832556-94839968 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0034399
 protein coding gene Chr8:84994292-85002395 (-)
PWK/PhJ MGP_PWKPhJ_G0032606
 protein coding gene Chr8:81442238-81449435 (-)
SPRET/EiJ MGP_SPRETEiJ_G0032442
 protein coding gene Chr8:83802846-83809628 (-)
WSB/EiJ MGP_WSBEiJ_G0033015
 protein coding gene Chr8:85421811-85429322 (-)



Homology
more
  • Human Ortholog
    BEST2, bestrophin 2
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    BEST2, bestrophin 2
  • Synonyms
    VMD2L1
  • Links
    NCBI Gene ID: 54831
    neXtProt AC: NX_Q8NFU1
    UniProt: Q8NFU1

  • Chr Location
    19p13.13; chr19:12751702-12758458 (+)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    7 phenotypes from 2 alleles in 2 genetic backgrounds
    43 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.
Mice homozygous for a null allele exhibit ocular hypotension. Both heterozygous and homozygous null mice show a greater reduction in intraocular pressure following treatment with brinzolamide.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    22
  • GO References
    8
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
    710
  • Tissues
    4
  • cDNA Data
    10
  • Literature Summary
    1
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 212989 NCBI Gene Model | MGI Sequence Detail 7330 C57BL/6J ±  kb
    transcript NR_052011 RefSeq | MGI Sequence Detail 2212 C57BL/6  
    polypeptide Q8BGM5 UniProt | EBI | MGI Sequence Detail 508 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 10
      cDNA 10

      Microarray probesets 2
    References
    more
    • Summaries
      All 71
      Developmental Gene Expression 1
      Gene Ontology 8
      Phenotypes 43
    • Earliest
      J:13049 Gruneberg H, Genetical studies on the skeleton of the mouse. XVIII. Three genes for syndactylism. J Genet. 1956;54(1):113-145
    • Latest
      J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    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)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory