CNGB3

GENE INFORMATION

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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 78.38)

Entrez gene

54714

UniProt

Q9NQW8 (UniProt - Evidence at protein level)

neXtProt

NX_Q9NQW8

Antibodypedia

CNGB3 antibodies
 

PROTEIN VIEW

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CNGB3-001
 
CNGB3-003
 
 
 
 
 

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)

CNGB3-001 ENSP00000316605
ENST00000320005
Q9NQW8
Show all »
Show » Show » 809 92.2 No 5
CNGB3-003 ENSP00000428329
ENST00000517327
H0YAZ4
Show all »
Show » 111 12.3 No 0