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
cyclic nucleotide gated channel beta 3
cyclic nucleotide gated channel beta 3
Protein Structure
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 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
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
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
KEGG
INOH
PID BIOCARTA
PID NCI
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