Best3 bestrophin 3 [Mus musculus (house mouse)] - Gene

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, Dec 2024]
Expression: Biased expression in heart adult (RPKM 1.9), limb E14.5 (RPKM 1.5) and 10 other tissues See more
Orthologs: human all
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Genomic context

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_000076.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Bestrophin3 Deficiency in Vascular Smooth Muscle Cells Activates MEKK2/3-MAPK Signaling to Trigger Spontaneous Aortic Dissection.
Title: Bestrophin3 Deficiency in Vascular Smooth Muscle Cells Activates MEKK2/3-MAPK Signaling to Trigger Spontaneous Aortic Dissection.
The authors propose that Best3V2 isoform in myoblasts may work as a tuner to control Ca(2+) release from intracellular Ca(2+) stores.
Title: A C-terminally truncated mouse Best3 splice variant targets and alters the ion balance in lysosome-endosome hybrids and the endoplasmic reticulum.
Our experiments present clear evidence of Best3 mRNA and protein expression in mouse kidney glomeruli
Title: Bestrophin-3 is differently expressed in normal and injured mouse glomerular podocytes.
results demonstrated that Best-3 is an endogenous inhibitor of NF-kappaB signaling pathway in endothelial cells, suggesting that forced Best-3 expression may be a novel approach for the treatment of vascular inflammatory diseases.
Title: Bestrophin 3 ameliorates TNFα-induced inflammation by inhibiting NF-κB activation in endothelial cells.
These results suggest that an auto-inhibitory mechanism in C termini of bestrophin 3 may be universal among bestrophins investigated in the study.
Title: Activation of bestrophin Cl- channels is regulated by C-terminal domains.
The channel activity of the mBest4 protein lacking the C-terminus (residues 353-669) was specifically inhibited by co-expression of C-terminal fragments of mBest4 having the inhibitory motif.
Title: A short motif in the C-terminus of mouse bestrophin 3 [corrected] inhibits its activation as a Cl channel.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Targeted (1) 1 citation

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables chloride channel activity	IDA Inferred from Direct Assay more info	PubMed
enables intracellularly calcium-gated chloride channel activity	ISO Inferred from Sequence Orthology more info
enables intracellularly calcium-gated chloride channel activity	ISS Inferred from Sequence or Structural Similarity more info
NOT enables ligand-gated monoatomic anion channel activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables ligand-gated monoatomic anion channel activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in chloride transmembrane transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within inorganic anion transport	IDA Inferred from Direct Assay more info	PubMed
involved_in monoatomic anion transmembrane transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within negative regulation of monoatomic ion transport	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
part_of chloride channel complex	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: bestrophin-3

Names: vitelliform macular dystrophy 2-like 3; vitelliform macular dystrophy 2-like protein 3

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)

NM_001007583.1 → NP_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:8 → 315

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

NC_000076.7 Reference GRCm39 C57BL/6J

Range

116822219..116865688

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Conserved Domains (2) summary

PTZ00449
Location:271 → 530

PTZ00449; 104 kDa microneme/rhoptry antigen; Provisional

pfam01062
Location:1 → 183

Bestrophin; RFP-TM, chloride channel
XM_036155882.1 → XP_036011775.1 bestrophin-3 isoform X1

Conserved Domains (2) summary

PTZ00449
Location:361 → 620

PTZ00449; 104 kDa microneme/rhoptry antigen; Provisional

pfam01062
Location:41 → 274

Bestrophin; RFP-TM, chloride channel
XM_006513830.4 → XP_006513893.1 bestrophin-3 isoform X3

See identical proteins and their annotated locations for XP_006513893.1

Conserved Domains (2) summary

PTZ00449
Location:297 → 556

PTZ00449; 104 kDa microneme/rhoptry antigen; Provisional

pfam01062
Location:1 → 209

Bestrophin; RFP-TM, chloride channel
XM_006513827.4 → XP_006513890.1 bestrophin-3 isoform X2

Conserved Domains (2) summary

PTZ00449
Location:346 → 605

PTZ00449; 104 kDa microneme/rhoptry antigen; Provisional

pfam01062
Location:26 → 258

Bestrophin; RFP-TM, chloride channel
XM_036155883.1 → XP_036011776.1 bestrophin-3 isoform X5

Conserved Domains (1) summary

pfam01062
Location:8 → 316

Bestrophin; RFP-TM, chloride channel