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    Best2 bestrophin 2 [ Mus musculus (house mouse) ]

    Gene ID: 212989, updated on 9-Dec-2024

    Summary

    Official Symbol
    Best2provided by MGI
    Official Full Name
    bestrophin 2provided by MGI
    Primary source
    MGI:MGI:2387588
    See related
    Ensembl:ENSMUSG00000052819 AllianceGenome:MGI:2387588
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Vmd2l1
    Summary
    Enables bicarbonate channel activity. Contributes to chloride channel activity. Involved in several processes, including bicarbonate transport; chloride transmembrane transport; and sensory perception of smell. Acts upstream of or within chloride transport. Located in basolateral plasma membrane and cilium. Part of chloride channel complex. Is expressed in ovary; submandibular gland; testis; and thymus. Orthologous to human BEST2 (bestrophin 2). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Restricted expression toward colon adult (RPKM 38.9) See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See Best2 in Genome Data Viewer
    Location:
    8 C3; 8 41.46 cM
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 8 NC_000074.7 (85733831..85741160, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 8 NC_000074.6 (85007202..85014531, complement)

    Chromosome 8 - NC_000074.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_22143 Neighboring gene STARR-positive B cell enhancer ABC_E1764 Neighboring gene STARR-positive B cell enhancer ABC_E706 Neighboring gene jun B proto-oncogene Neighboring gene STARR-positive B cell enhancer ABC_E5029 Neighboring gene STARR-positive B cell enhancer ABC_E3789 Neighboring gene hook microtubule tethering protein 2 Neighboring gene STARR-seq mESC enhancer starr_22148 Neighboring gene guided entry of tail-anchored proteins factor 3, ATPase Neighboring gene STARR-positive B cell enhancer ABC_E884 Neighboring gene STARR-positive B cell enhancer ABC_E8254 Neighboring gene telomerase RNA component interacting RNase

    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 (2) 
    • Targeted (3)  1 citation

    General gene information

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables bicarbonate channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables bicarbonate channel activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables bicarbonate channel activity ISO
    Inferred from Sequence Orthology
    more info
     
    contributes_to chloride channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables chloride channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables chloride channel activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables intracellularly ligand-gated monoatomic ion channel activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables intracellularly ligand-gated monoatomic ion channel activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables ligand-gated monoatomic anion channel activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables ligand-gated monoatomic cation channel activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables ligand-gated monoatomic cation channel activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in basolateral plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of chloride channel complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cilium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    bestrophin-2
    Names
    vitelliform macular dystrophy 2-like protein 1

    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_001130194.1NP_001123666.1  bestrophin-2

      See identical proteins and their annotated locations for NP_001123666.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the functional protein.
      Source sequence(s)
      AC163703, AY450428, BY096795
      Consensus CDS
      CCDS52621.1
      UniProtKB/Swiss-Prot
      Q6H1U9, Q8BGM5, Q8VCM0
      UniProtKB/TrEMBL
      A0A0R4J0P0
      Related
      ENSMUSP00000053408.5, ENSMUST00000059072.6
      Conserved Domains (1) summary
      pfam01062
      Location:8314
      Bestrophin; RFP-TM, chloride channel

    RNA

    1. NR_052011.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate 5' exon structure, compared to variant 1. This variant is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC163703, AY450428

    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_000074.7 Reference GRCm39 C57BL/6J

      Range
      85733831..85741160 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006530820.1XP_006530883.1  bestrophin-2 isoform X1

      See identical proteins and their annotated locations for XP_006530883.1

      UniProtKB/Swiss-Prot
      Q6H1U9, Q8BGM5, Q8VCM0
      UniProtKB/TrEMBL
      A0A0R4J0P0
      Related
      ENSMUSP00000147837.2, ENSMUST00000209421.2
      Conserved Domains (1) summary
      pfam01062
      Location:8314
      Bestrophin; RFP-TM, chloride channel
    2. XM_011248341.3XP_011246643.1  bestrophin-2 isoform X2

      UniProtKB/Swiss-Prot
      Q6H1U9, Q8BGM5, Q8VCM0
      Conserved Domains (1) summary
      pfam01062
      Location:31285
      Bestrophin; RFP-TM, chloride channel