U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

    Best3 bestrophin 3 [ Mus musculus (house mouse) ]

    Gene ID: 382427, updated on 27-Nov-2024

    Summary

    Official Symbol
    Best3provided by MGI
    Official Full Name
    bestrophin 3provided by MGI
    Primary source
    MGI:MGI:3580298
    See related
    Ensembl:ENSMUSG00000020169 AllianceGenome:MGI:3580298
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Vmd2l3; mBest4
    Summary
    Enables chloride channel activity and ligand-gated monoatomic anion channel activity. Acts upstream of or within inorganic anion transport and negative regulation of monoatomic ion transport. Located in plasma membrane. Used to study aortic dissection. Orthologous to human BEST3 (bestrophin 3). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in heart adult (RPKM 1.9), limb E14.5 (RPKM 1.5) and 10 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See Best3 in Genome Data Viewer
    Location:
    10 D2; 10 65.0 cM
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 10 NC_000076.7 (116822219..116865688)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 10 NC_000076.6 (116986314..117025687)

    Chromosome 10 - NC_000076.7Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA D630029K05 gene Neighboring gene predicted gene 5781 Neighboring gene predicted gene, 46182 Neighboring gene STARR-positive B cell enhancer ABC_E5187 Neighboring gene predicted gene 10747 Neighboring gene leucine rich repeat containing 10

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 
    • Targeted (1)  1 citation

    General gene information

    General protein information

    Preferred Names
    bestrophin-3
    Names
    vitelliform macular dystrophy 2-like 3
    vitelliform macular dystrophy 2-like protein 3

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001007583.1NP_001007584.1  bestrophin-3

      See identical proteins and their annotated locations for NP_001007584.1

      Status: PROVISIONAL

      Source sequence(s)
      AY450426
      Consensus CDS
      CCDS24188.1
      UniProtKB/Swiss-Prot
      Q6H1V1
      Related
      ENSMUSP00000020378.5, ENSMUST00000020378.5
      Conserved Domains (1) summary
      pfam01062
      Location:8315
      Bestrophin; Bestrophin, RFP-TM, chloride channel

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000076.7 Reference GRCm39 C57BL/6J

      Range
      116822219..116865688
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030245153.2XP_030101013.1  bestrophin-3 isoform X4

      Conserved Domains (2) summary
      PTZ00449
      Location:271530
      PTZ00449; 104 kDa microneme/rhoptry antigen; Provisional
      pfam01062
      Location:1183
      Bestrophin; RFP-TM, chloride channel
    2. XM_036155882.1XP_036011775.1  bestrophin-3 isoform X1

      Conserved Domains (2) summary
      PTZ00449
      Location:361620
      PTZ00449; 104 kDa microneme/rhoptry antigen; Provisional
      pfam01062
      Location:41274
      Bestrophin; RFP-TM, chloride channel
    3. XM_006513830.4XP_006513893.1  bestrophin-3 isoform X3

      See identical proteins and their annotated locations for XP_006513893.1

      Conserved Domains (2) summary
      PTZ00449
      Location:297556
      PTZ00449; 104 kDa microneme/rhoptry antigen; Provisional
      pfam01062
      Location:1209
      Bestrophin; RFP-TM, chloride channel
    4. XM_006513827.4XP_006513890.1  bestrophin-3 isoform X2

      Conserved Domains (2) summary
      PTZ00449
      Location:346605
      PTZ00449; 104 kDa microneme/rhoptry antigen; Provisional
      pfam01062
      Location:26258
      Bestrophin; RFP-TM, chloride channel
    5. XM_036155883.1XP_036011776.1  bestrophin-3 isoform X5

      Conserved Domains (1) summary
      pfam01062
      Location:8316
      Bestrophin; RFP-TM, chloride channel