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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes Human disease related genes Plasma proteins Potential drug targets Transporters
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
16
Cytoband
q21
Chromosome location (bp)
57882340 - 57971128
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Subunit of cyclic nucleotide-gated (CNG) channels, nonselective cation channels, which play important roles in both visual and olfactory signal transduction. When associated with CNGA1, it is involved in the regulation of ion flow into the rod photoreceptor outer segment (ROS), in response to light-induced alteration of the levels of intracellular cGMP....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Ion channel, Ligand-gated ion channel
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Ion transport, Olfaction, Sensory transduction, Transport, Vision
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
cAMP, cAMP-binding, Nucleotide-binding
Gene summary (Entrez)i
Useful information about the gene from Entrez
In humans, the rod photoreceptor cGMP-gated cation channel helps regulate ion flow into the rod photoreceptor outer segment in response to light-induced alteration of the levels of intracellular cGMP. This channel consists of two subunits, alpha and beta, with the protein encoded by this gene representing the beta subunit. Defects in this gene are a cause of cause of retinitis pigmentosa type 45. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2013]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
Transporters Transporter channels and pores Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Disease related genes Potential drug targets Human disease related genes Nervous system diseases Eye disease Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014)
Show all
GO:0000166[nucleotide binding] GO:0001750[photoreceptor outer segment] GO:0001895[retina homeostasis] GO:0005221[intracellular cyclic nucleotide activated cation channel activity] GO:0005222[intracellular cAMP-activated cation channel activity] GO:0005223[intracellular cGMP-activated cation channel activity] GO:0005515[protein binding] GO:0005886[plasma membrane] GO:0006811[ion transport] GO:0006812[cation transport] GO:0007601[visual perception] GO:0007608[sensory perception of smell] GO:0015276[ligand-gated ion channel activity] GO:0016020[membrane] GO:0017071[intracellular cyclic nucleotide activated cation channel complex] GO:0021630[olfactory nerve maturation] GO:0030552[cAMP binding] GO:0030553[cGMP binding] GO:0030660[Golgi-associated vesicle membrane] GO:0044877[protein-containing complex binding] GO:0050896[response to stimulus] GO:0050908[detection of light stimulus involved in visual perception] GO:0050911[detection of chemical stimulus involved in sensory perception of smell] GO:0051899[membrane depolarization] GO:0060170[ciliary membrane] GO:0098655[cation transmembrane transport] GO:0099105[ion channel modulating, G protein-coupled receptor signaling pathway] GO:1902495[transmembrane transporter complex] GO:1990834[response to odorant]
The Human Protein Atlas project is funded
