BEST3

GENERAL INFORMATION

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Gene name

BEST3

Gene description

Bestrophin 3

Protein class

Predicted intracellular proteins
Predicted membrane proteins

Predicted localization

Intracellular,Membrane

Number of transcripts

9
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Tissue enhanced (cerebral cortex, skeletal muscle)
GTEx:Tissue enhanced (skeletal muscle)

Protein evidence

Evidence at transcript level

Protein localization

Most of the normal tissues displayed moderate cytoplasmic positivity. Strong staining was observed in gastrointestinal tract, parathyroid and renal tubules.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 1 antibody.
HPA054582
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Skeletal muscle

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Tissue enhanced (cerebral cortex, skeletal muscle)

Organ

Expression

GTEx dataset
RNA tissue category:  Tissue enhanced (skeletal muscle)

Organ

Expression



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

Cytoband

q15

Chromosome location (bp)

69643360 - 69699476

Protein evidence

Evidence at transcript level (all genes)

Ensembl

ENSG00000127325 (version 78.38)

Entrez gene

144453

UniProt

Q8N1M1 (UniProt - Evidence at transcript level)

neXtProt

NX_Q8N1M1

Antibodypedia

BEST3 antibodies


PROTEIN BROWSER

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ENST00000266661
 
ENST00000330891
 
ENST00000331471
 
ENST00000476098
 
ENST00000488961
 
ENST00000548658
 
ENST00000551160
 
ENST00000552295
 
ENST00000553096
 
 
 
 


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