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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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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

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