CNGB3
entrez
54714
canonical
uniprot
Q9NQW8
canonical
ensembl
ENSG00000170289
resolver
ensp
ENSP00000316605
resolver
genesymbol
CNGB3
resolver
hgnc
HGNC:2153
resolver
uniprot
C9JA51
resolver
uniprot
Q9NRE9
resolver
uniprot_entry
CNGB3_HUMAN
resolver
uniprot_sec
C9JA51
resolver
uniprot_sec
Q9NRE9
resolver
amino_acid_sequence
MFKSLTKVNKVKPIGENNENEQSSRRNEEGSHPSNQSQQTTAQEENKGEEKSLKTKSTPVTSEEPHTNIQDKLSKKNSSGDLTTNPDPQNAAEPTGTVPEQKEMDPGKEGPNSPQNKPPAAPVINEYADAQLHNLVKRMRQRTALYKKKLVEGDLSSPEASPQTAKPTAVPPVKESDDKPTEHYYRLLWFKVKKMPLTEYLKRIKLPNSIDSYTDRLYLLWLLLVTLAYNWNCCFIPLRLVFPYQTADNIHYWLIADIICDIIYLYDMLFIQPRLQFVRGGDIIVDSNELRKHYRTSTKFQLDVASIIPFDICYLFFGFNPMFRANRMLKYTSFFEFNHHLESIMDKAYIYRVIRTTGYLLFILHINACVYYWASNYEGIGTTRWVYDGEGNEYLRCYYWAVRTLITIGGLPEPQTLFEIVFQLLNFFSGVFVFSSLIGQMRDVIGAATANQNYFRACMDDTIAYMNNYSIPKLVQKRVRTWYEYTWDSQRMLDESDLLKTLPTTVQLALAIDVNFSIISKVDLFKGCDTQMIYDMLLRLKSVLYLPGDFVCKKGEIGKEMYIIKHGEVQVLGGPDGTKVLVTLKAGSVFGEISLLAAGGGNRRTANVVAHGFANLLTLDKKTLQEILVHYPDSERILMKKARVLLKQKAKTAEATPPRKDLALLFPPKEETPKLFKTLLGGTGKASLARLLKLKREQAAQKKENSEGGEEEGKENEDKQKENEDKQKENEDKGKENEDKDKGREPEEKPLDRPECTASPIAVEEEPHSVRRTVLPRGTSRQSLIISMAPSAEGGEEVLTIEVKEKAKQ
uniprot
proteins
disease_involvement
DISEASE: Stargardt disease 1 (STGD1) [MIM:248200]: An autosomal recessive form of Stargardt disease, a retinal degenerative disease characterized by macular dystrophy, progressive bilateral atrophy of the foveal retinal pigment epithelium, and accumulation of fluorescent flecks around the macula and/or in the central and near-peripheral areas of the retina. STGD1 patients typically lose central vision in their first or second decade of life. {ECO:0000269|PubMed:15712225}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Achromatopsia 3 (ACHM3) [MIM:262300]: An autosomal recessive, ocular stationary disorder due to the absence of functioning cone photoreceptors in the retina. It is characterized by total colorblindness, low visual acuity, photophobia and nystagmus. Achromatopsia type 3 patients manifest severe myopia. {ECO:0000269|PubMed:10888875, ECO:0000269|PubMed:10958649, ECO:0000269|PubMed:12357335, ECO:0000269|PubMed:12815043, ECO:0000269|PubMed:14757870, ECO:0000269|PubMed:15657609, ECO:0000269|PubMed:15712225}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Pore-forming subunit of the cone cyclic nucleotide-gated channel. Mediates cone photoresponses at bright light converting transient changes in intracellular cGMP levels into electrical signals. In the dark, cGMP levels are high and keep the channel open enabling a steady inward current carried by Na(+) and Ca(2+) ions that leads to membrane depolarization and neurotransmitter release from synaptic terminals. Upon photon absorption cGMP levels decline leading to channel closure and membrane hyperpolarization that ultimately slows neurotransmitter release and signals the presence of light, the end point of the phototransduction cascade. Conducts cGMP- and cAMP-gated ion currents, with permeability for monovalent and divalent cations. {ECO:0000269|PubMed:10888875, ECO:0000269|PubMed:12815043, ECO:0000269|PubMed:34969976, ECO:0000269|PubMed:37463923}.
uniprot
proteins
mass_dalton
92167
uniprot
proteins
protein_family
CNGB3 subfamily
uniprot
proteins
protein_family
Cyclic nucleotide-gated cation channel (TC 1.A.1.5) family
uniprot
proteins
pubmed
10888875
uniprot
proteins
pubmed
10958649
uniprot
proteins
pubmed
11764791
uniprot
proteins
pubmed
12357335
uniprot
proteins
pubmed
12815043
uniprot
proteins
pubmed
14757870
uniprot
proteins
pubmed
15657609
uniprot
proteins
pubmed
15712225
uniprot
proteins
pubmed
16421571
uniprot
proteins
pubmed
21878911
uniprot
proteins
pubmed
34969976
uniprot
proteins
pubmed
37463923
uniprot
proteins
sequence_length
809
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Photoreceptor outer segment membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000255}. Cell membrane {ECO:0000269|PubMed:12815043}; Multi-pass membrane protein {ECO:0000255}. Note=Localized in cone outer segment membranes. {ECO:0000305}.
uniprot
proteins
transmembrane_region
TRANSMEM 219..242; /note="Helical; Name=S1"; /evidence="ECO:0000269|PubMed:34969976, ECO:0007744|PDB:7RHS"; TRANSMEM 250..270; /note="Helical; Name=S2"; /evidence="ECO:0000269|PubMed:34969976, ECO:0007744|PDB:7RHS"; TRANSMEM 300..317; /note="Helical; Name=S3"; /evidence="ECO:0000269|PubMed:34969976, ECO:0007744|PDB:7RHS"; TRANSMEM 321..335; /note="Helical; Name=S4"; /evidence="ECO:0000269|PubMed:34969976, ECO:0007744|PDB:7RHS"; TRANSMEM 349..371; /note="Helical; Name=S5"; /evidence="ECO:0000269|PubMed:34969976, ECO:0007744|PDB:7RHS"; TRANSMEM 394..420; /note="Helical; Name=P-helix"; /evidence="ECO:0000269|PubMed:34969976, ECO:0007744|PDB:7RHS"; TRANSMEM 421..445; /note="Helical; Name=S6"; /evidence="ECO:0000269|PubMed:34969976, ECO:0007744|PDB:7RHS
uniprot
proteins