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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
  • Gene Overview
    MyGene.info: BEST2
Location & Maps
more
  • Sequence Map
    Chr8:85007202-85014531 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      7330 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 8, 41.46 cM
  • Mapping Data
    1 experiment
Homology
more
  • Human Ortholog
    BEST2, bestrophin 2
  • Vertebrate Orthologs
    9
  • Human Ortholog
    BEST2, bestrophin 2
    Orthology source: HomoloGene, HGNC
  • Synonyms
    VMD2L1
  • Links
    NCBI Gene ID: 54831
    neXtProt AC: NX_Q8NFU1

  • Chr Location
    19p13.2; chr19:12751676-12758458 (+)  GRCh38.p2

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    5 phenotypes from 1 allele in 1 genetic background
    35 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.
  • All Mutations and Alleles
    6
  • Chemically induced (other)
    1
  • Radiation induced
    1
  • Targeted
    4
  • Genomic Mutations
    2 involving Best2
  • Incidental Mutations
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
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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
less
  • cDNA Data
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000061399 VEGA Gene Model | MGI Sequence Detail 7330 C57BL/6J ±  kb
transcript OTTMUST00000149823 VEGA | MGI Sequence Detail 1944 Not Applicable  
polypeptide OTTMUSP00000077701 VEGA | MGI Sequence Detail 508 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    80 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 9
    cDNA 9

    Microarray probesets 2
References
more
  • Summaries
    All 28
    Gene Ontology 4
    Phenotypes 35
  • Earliest
    J:107882 Kramer F, et al., Cloning and characterization of the murine Vmd2 RFP-TM gene family. Cytogenet Genome Res. 2004;105(1):107-14
  • Latest
    J:178145 Lee YS, et al., Regulation of Anterior Chamber Drainage by Bicarbonate-sensitive Soluble Adenylyl Cyclase in the Ciliary Body. J Biol Chem. 2011 Dec 2;286(48):41353-8

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
09/27/2016
MGI 6.05
The Jackson Laboratory