• Gene id: 144453

Gene Summary

• Gene Symbol: BEST3   Gene   UCSC   Ensembl
• Aliases: VMD2L3
• Gene name: bestrophin 3
• Alternate names: bestrophin-3, vitelliform macular dystrophy 2-like 3, vitelliform macular dystrophy 2-like protein 3,
• Gene location: 12q15 (69699415: 69643507)     Exons: 14     NC_000012.12
• Gene summary(Entrez): 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
• OMIM: 607337

Protein Summary

• Protein general information: Q8N1M1  
  • Name: Bestrophin 3 (Vitelliform macular dystrophy 2 like protein 3)
  • Length: 668  
  • Mass: 76107
  • Tissue specificity: Present in skeletal muscle and weakly in brain, spinal cord, bone marrow and retina. {ECO
• Sequence:

  MTVTYSSKVANATFFGFHRLLLKWRGSIYKLLYREFIVFAVLYTAISLVYRLLLTGVQKRYFEKLSIYCDRYAEQ
  IPVTFVLGFYVTLVVNRWWNQFVNLPWPDRLMFLISSSVHGSDEHGRLLRRTLMRYVNLTSLLIFRSVSTAVYKR
  FPTMDHVVEAGFMTTDERKLFNHLKSPHLKYWVPFIWFGNLATKARNEGRIRDSVDLQSLMTEMNRYRSWCSLLF
  GYDWVGIPLVYTQVVTLAVYTFFFACLIGRQFLDPTKGYAGHDLDLYIPIFTLLQFFFYAGWLKVAEQLINPFGE
  DDDDFETNWCIDRNLQVSLLAVDEMHMSLPKMKKDIYWDDSAARPPYTLAAADYCIPSFLGSTVQMGLSGSDFPD
  EEWLWDYEKHGHRHSMIRRVKRFLSAHEHPSSPRRRSYRRQTSDSSMFLPRDDLSPARDLLDVPSRNPPRASPTW
  KKSCFPEGSPTLHFSMGELSTIRETSQTSTLQSLTPQSSVRTSPIKMPLVPEVLITAAEAPVPTSGGYHHDSATS
  ILSSEFTGVQPSKTEQQQGPMGSILSPSEKETPPGGPSPQTVSASAEENIFNCEEDPGDTFLKRWSLPGFLGSSH
  TSLGNLSPDPMSSQPALLIDTETSSEISGINIVAGSRVSSDMLYLMENLDTKETDIIELNKETEESPK

• Structural information:
  • Interpro: IPR000615  IPR021134  
  • STRING: ENSP00000332413
• Other Databases: GeneCards:  BEST3  Malacards:  BEST3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006821	chloride transport	IEA	biological process
GO:0034707	chloride channel complex	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005254	chloride channel activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0015698	inorganic anion transport	IEA	biological process
GO:0043271	negative regulation of ion transport	IEA	biological process
GO:0005254	chloride channel activity	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:1902476	chloride transmembrane transport	IEA	biological process
GO:1902476	chloride transmembrane transport	IEA	biological process
GO:0003674	molecular_function	ND	molecular function
GO:0008150	biological_process	ND	biological process

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)