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    Best2 bestrophin 2 [ Mus musculus (house mouse) ]

    Gene ID: 212989, updated on 11-Apr-2024

    Summary

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    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
    Contributes to chloride channel activity. Involved in chloride transmembrane transport and membrane depolarization. Acts upstream of or within chloride transport and sensory perception of smell. Located in 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, Apr 2022]
    Expression
    Restricted expression toward colon adult (RPKM 38.9) See more
    Orthologs
    human all
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    Genomic context

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    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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Calcium-activated chloride currents in olfactory sensory neurons from mice lacking bestrophin-2. Pifferi S, et al. J Physiol, 2009 Sep 1. PMID 19622610, Free PMC Article
    2. Bestrophin 2: an anion channel associated with neurogenesis in chemosensory systems. Klimmeck D, et al. J Comp Neurol, 2009 Aug 10. PMID 19480000
    3. Enhanced inflow and outflow rates despite lower IOP in bestrophin-2-deficient mice. Zhang Y, et al. Invest Ophthalmol Vis Sci, 2009 Feb. PMID 18936135, Free PMC Article
    4. Bestrophin-2 is involved in the generation of intraocular pressure. Bakall B, et al. Invest Ophthalmol Vis Sci, 2008 Apr. PMID 18385076, Free PMC Article
    5. Bestrophin-2 mediates bicarbonate transport by goblet cells in mouse colon. Yu K, et al. J Clin Invest, 2010 May. PMID 20407206, Free PMC Article

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Bestrophin-2 mediates bicarbonate transport by goblet cells in mouse colon
      Title: Bestrophin-2 mediates bicarbonate transport by goblet cells in mouse colon.
    2. Results suggest that bestrophin 2 plays a critical role during differentiation and growth of axons and cilia.
      Title: Bestrophin 2: an anion channel associated with neurogenesis in chemosensory systems.
    3. Asp-rich domain has two defined binding sites and D301A and D304A mutations may impact the binding of the metal ions
      Title: Regulation of bestrophins by Ca2+: a theoretical and experimental study.
    4. suggest a role of bestrophin 1 and 2 for Ca(2+) dependent Cl(-) secretion in mouse airways
      Title: Bestrophin 1 and 2 are components of the Ca(2+) activated Cl(-) conductance in mouse airways.
    5. Determined HCO3(-)/Cl(-) transport via Best2 and the effect of disease causing mutations.
      Title: Bestrophin Cl- channels are highly permeable to HCO3-.
    6. Best2 plays a role in the generation of IOP by regulating formation of aqueous humor, and inhibition of Best2 function represents an attractive new avenue for regulating IOP in individuals with glaucoma.
      Title: Bestrophin-2 is involved in the generation of intraocular pressure.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (3)  1 citation
    • Endonuclease-mediated (2) 

    General gene information

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    Homology

    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 ligand-gated monoatomic cation channel activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in bicarbonate transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within chloride transmembrane transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in chloride transmembrane transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within chloride transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in membrane depolarization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within monoatomic ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within monoatomic ion transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in sensory perception of smell IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    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 membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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

    NCBI Reference Sequences (RefSeq)

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    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_001130194.1 → NP_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:8 → 314
      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_006530820.1 → XP_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:8 → 314
      Bestrophin; RFP-TM, chloride channel

    2. XM_011248341.3 → XP_011246643.1  bestrophin-2 isoform X2

      UniProtKB/Swiss-Prot
      Q6H1U9, Q8BGM5, Q8VCM0
      Conserved Domains (1) summary
      pfam01062
      Location:31 → 285
      Bestrophin; RFP-TM, chloride channel
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8BGM5.1 GenPept UniProtKB/Swiss-Prot:Q8BGM5

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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