BEST3

GENE INFORMATION

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Gene name

BEST3 (HGNC Symbol)

Synonyms

MGC13168, MGC40411, VMD2L3

Description

bestrophin 3 (HGNC Symbol)

Entrez gene 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 transmembrane (TM) proteins that share a homology region containing a high content of aromatic residues, including an invariant arg-phe-pro (RFP) motif. The bestrophin genes share a conserved gene structure, with almost identical sizes of the 8 RFP-TM domain-encoding exons and highly conserved exon-intron boundaries. Each of the 4 bestrophin genes has a unique 3-prime end of variable length (Stohr et al., 2002 [PubMed 12032738]; Tsunenari et al., 2003 [PubMed 12907679]).[supplied by OMIM, Mar 2008]

Chromosome

12 (Chromosome progress)

Cytoband

q15

Chromosome location (bp)

70037140 - 70093256

Ensembl

ENSG00000127325 (version 73.37)

Entrez gene

144453

UniProt

Q8N1M1 (UniProt - Evidence at transcript level)

neXtProt

NX_Q8N1M1

Antibodypedia

BEST3 antibodies
 

PROTEIN VIEW

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 « 
 
BEST3-001
 
BEST3-002
 
BEST3-003
 
BEST3-004
 
BEST3-008
 
BEST3-009
 
BEST3-010
 
BEST3-011
 
BEST3-012
 
BEST3-013
 
BEST3-201
 
 » 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

BEST3-001 ENSP00000332413
ENST00000330891
Q8N1M1
Show all »
Show » Show » 668 76.1 No 4
BEST3-002 ENSP00000433213
ENST00000488961
Q8N1M1
Show all »
Show » 455 51 No 0
BEST3-003 ENSP00000434713
ENST00000476098
E9PNM2
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197 22.8 No 0
BEST3-004 ENSP00000266661
ENST00000266661
Q8N1M1
Show all »
Show » 72 8.3 No 0
BEST3-008 ENSP00000329064
ENST00000331471
Q8N1M1
Show all »
Show » Show » 398 46.6 No 4
BEST3-009 ENSP00000449548
ENST00000553096
F8VVZ2
Show all »
Show » Show » 562 63.4 No 2
BEST3-010 ENSP00000449377
ENST00000551160
Q8N1M1
Show all »
Show » 72 8.3 No 0
BEST3-011 ENSP00000449868
ENST00000547208
F8VVX2
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143 17 No 0
BEST3-012 ENSP00000446575
ENST00000548658
F8VR37
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Show » 142 17 No 1
BEST3-013 ENSP00000447689
ENST00000552295
F8VZR0
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161 18.9 No 0
BEST3-201 ENSP00000377032
ENST00000393365
Q8N1M1
Show all »
Show » 72 8.3 No 0