CNGB3

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]

Description

Cyclic nucleotide gated channel subunit beta 3

Tissue specificity

Tissue enhanced (bone marrow, retina)

Predicted location

Intracellular, Membrane

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Potential drug targets
Predicted intracellular proteins
Predicted membrane proteins
Protein evidence (Kim et al 2014)
Voltage-gated ion channels

Chromosome

8 (86553977 - 86743675)

Ensembl ID

ENSG00000170289  (ver. 103.38)

Orthologs

Mouse Cngb3: ENSMUSG00000056494

UniProt

Q9NQW8

neXtProt

NX_Q9NQW8

Human splice variants
Mouse splice variants

Protein structure