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CNGB3

GENERAL INFORMATION

Gene name

 CNGB3

Gene description

 Cyclic nucleotide gated channel beta 3

Protein class

 Disease related genes
Potential drug targets
Predicted intracellular proteins
Predicted membrane proteins
Voltage-gated ion channels

Predicted localization

 Intracellular,Membrane

Number of transcripts

 2
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Tissue enhanced (testis)
GTEx:Group enriched (testis, fallopian tube)
FANTOM5:Tissue enriched (retina)

Protein evidence

 Evidence at protein level

Protein expression

 Expression in basal membrane in photoreceptor layer in retina.

DATA RELIABILITY

Data reliability
description

 Presumed off target binding observed and disregarded. External characterization data supports antibody staining but no internal RNA data available for correlation.

Reliability score

 Approved based on 1 antibody.
HPA057244
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Eye
N/A
Retina
N/A
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

Retina

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (testis)
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Group enriched (testis, fallopian tube)
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enriched (retina)

GENE INFORMATION

Gene name

 CNGB3 (HGNC Symbol)

Synonyms

 ACHM1, ACHM3, RMCH

Description

 Cyclic nucleotide gated channel beta 3 (HGNC Symbol)

Entrez gene summary

 This gene encodes the beta subunit of a cyclic nucleotide-gated ion channel. The encoded beta subunit appears to play a role in modulation of channel function in cone photoreceptors. This heterotetrameric channel is necessary for sensory transduction, and mutations in this gene have been associated with achromatopsia 3, progressive cone dystrophy, and juvenile macular degeneration, also known as Stargardt Disease. [provided by RefSeq, Feb 2010]

Chromosome

 8

Cytoband

 q21.3

Chromosome location (bp)

 86553977 - 86743675

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000170289 (version 83.38)

Entrez gene

 54714

UniProt

 Q9NQW8 (UniProt - Evidence at protein level)

neXtProt

 NX_Q9NQW8

Antibodypedia

 CNGB3 antibodies

PROTEIN BROWSER
CNGB3-001
CNGB3-003

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
CNGB3-001
ENSP00000316605
ENST00000320005
Q9NQW8 [Direct mapping]
Cyclic nucleotide-gated cation channel beta-3
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Voltage-gated ion channels
   Cyclic Nucleotide-Regulated Channels
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   5TM proteins predicted by MDM
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
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GO:0001750 [photoreceptor outer segment]
GO:0005222 [intracellular cAMP activated cation channel activity]
GO:0005223 [intracellular cGMP activated cation channel activity]
GO:0005249 [voltage-gated potassium channel activity]
GO:0005515 [protein binding]
GO:0005887 [integral component of plasma membrane]
GO:0006810 [transport]
GO:0006812 [cation transport]
GO:0007165 [signal transduction]
GO:0007601 [visual perception]
GO:0030553 [cGMP binding]
GO:0042391 [regulation of membrane potential]
GO:0071805 [potassium ion transmembrane transport]
GO:1902495 [transmembrane transporter complex]
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 809 aa
92.2 kDa 		No 5
CNGB3-003
ENSP00000428329
ENST00000517327
H0YAZ4 [Direct mapping]
Cyclic nucleotide-gated cation channel beta-3
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Predicted intracellular proteins
Show all
GO:0005222 [intracellular cAMP activated cation channel activity]
GO:0005249 [voltage-gated potassium channel activity]
GO:0005887 [integral component of plasma membrane]
GO:0042391 [regulation of membrane potential]
GO:0071805 [potassium ion transmembrane transport]
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 111 aa
12.3 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.