Gene Gene information from NCBI Gene database.
Entrez ID 144453
Gene name Bestrophin 3
Gene symbol BEST3
Synonyms (NCBI Gene)
VMD2L3
Chromosome 12
Chromosome location 12q15
Summary BEST3 belongs to the bestrophin family of anion channels, which includes BEST1 (MIM 607854), the gene mutant in vitelliform macular dystrophy (VMD; MIM 153700), and 2 other BEST1-like genes, BEST2 (MIM 607335) and BEST4 (MIM 607336). Bestrophins are trans
miRNA miRNA information provided by mirtarbase database.
100
miRTarBase ID miRNA Experiments Reference
MIRT042669 hsa-miR-196b-5p CLASH 23622248
MIRT712823 hsa-miR-532-5p HITS-CLIP 19536157
MIRT712822 hsa-miR-483-3p HITS-CLIP 19536157
MIRT712821 hsa-miR-6884-3p HITS-CLIP 19536157
MIRT712820 hsa-miR-625-5p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
18
GO ID Ontology Definition Evidence Reference
GO:0005229 Function Intracellularly calcium-gated chloride channel activity IDA 12907679
GO:0005254 Function Chloride channel activity IBA
GO:0005254 Function Chloride channel activity IEA
GO:0005515 Function Protein binding IPI 32296183
GO:0005886 Component Plasma membrane IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607337 17105 ENSG00000127325
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8N1M1
Protein name Bestrophin-3 (Vitelliform macular dystrophy 2-like protein 3)
Protein function Ligand-gated anion channel that allows the movement of chloride monoatomic anions across cell membranes when activated by calcium (Ca2+).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01062 Bestrophin 8 316 Bestrophin, RFP-TM, chloride channel Family
Tissue specificity TISSUE SPECIFICITY: Present in skeletal muscle and weakly in brain, spinal cord, bone marrow and retina. {ECO:0000269|PubMed:12032738}.
Sequence
MTVTYSSKVANATFFGFHRLLLKWRGSIYKLLYREFIVFAVLYTAISLVYRLLLTGVQKR
YFEKLSIYCDRYAEQIPVTFVLGFYVTLVVNRWWNQFVNLPWPDRLMFLISSSVHGSDEH
GRLLRRTLMRYVNLTSLLIFRSVSTAVYKRFPTMDHVVEAGFMTTDERKLFNHLKSPHLK
YWVPFIWFGNLATKARNEGRIRDSVDLQSLMTEMNRYRSWCSLLFGYDWVGIPLVYTQVV
TLAVYTFFFACLIGRQFLDPTKGYAGHDLDLYIPIFTLLQFFFYAGWLKVAEQLINPFGE
DDDDFETNWCIDRNLQ
VSLLAVDEMHMSLPKMKKDIYWDDSAARPPYTLAAADYCIPSFL
GSTVQMGLSGSDFPDEEWLWDYEKHGHRHSMIRRVKRFLSAHEHPSSPRRRSYRRQTSDS
SMFLPRDDLSPARDLLDVPSRNPPRASPTWKKSCFPEGSPTLHFSMGELSTIRETSQTST
LQSLTPQSSVRTSPIKMPLVPEVLITAAEAPVPTSGGYHHDSATSILSSEFTGVQPSKTE
QQQGPMGSILSPSEKETPPGGPSPQTVSASAEENIFNCEEDPGDTFLKRWSLPGFLGSSH
TSLGNLSPDPMSSQPALLIDTETSSEISGINIVAGSRVSSDMLYLMENLDTKETDIIELN
KETEESPK
Sequence length 668
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Stimuli-sensing channels