Homo sapiens Gene: CNGB3

Summary
InnateDB Gene IDBG-27753.5
Last Modified 2012-02-14   [Report errors or provide feedback]
Gene Symbol CNGB3
Gene Name cyclic nucleotide gated channel beta 3
Synonyms ACHM1
Species Homo sapiens
Ensembl Gene ENSG00000170289
Encoded Proteins
IDBP-27757 cyclic nucleotide gated channel beta 3
IDBP-478110 cyclic nucleotide gated channel beta 3
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 8: 87566205-87755903
Strand Reverse strand
Band q21.3
Transcripts
ENST00000320005  ENSP00000316605
ENST00000517327  ENSP00000428329
ENST00000519777 
Interactions
Number of Interactions   This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
 
Predicted by orthology
Total [view]
Gene Ontology
Accession GO Term
Molecular Function
GO:0005223 intracellular cGMP activated cation channel activity
GO:0005515 protein binding
GO:0030553 cGMP binding
Biological Process
GO:0006810 transport
GO:0007165 signal transduction
GO:0007601 visual perception
Cellular Component
GO:0001750 photoreceptor outer segment
GO:0016021 integral to membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID Gene Order Method Confidence Comments
ENSMUSG00000056494 Ortholuge SSD Ortholog Ortholog supports species divergence
ENSBTAG00000036304 Not yet available Ortholuge SSD Ortholog Ortholog supports species divergence
Pathways
NETPATH
REACTOME
KEGG
INOH
PID BIOCARTA
PID NCI
cone_pathway Visual signal transduction: Cones
Cross-References
SwissProt Q9NQW8 
TrEMBL H0YAZ4
UniProt Splice Variant
Entrez Gene 54714 
UniGene Hs.154433
RefSeq NM_019098 
HUGO 2153 
OMIM 605080
CCDS CCDS6244 
HPRD 05468
IMGT
EMBL AC013751 AC090572 AC103817 AF228520 AF272900
GenPept AAF80179  AAF86274 
ImmGen CNGB3 (murine) 
RNA Seq Atlas 54714