CNGA3
entrez
1261
canonical
uniprot
Q16281
canonical
ensembl
ENSG00000144191
resolver
ensp
ENSP00000272602
resolver
ensp
ENSP00000410070
resolver
ensp
ENSP00000523326
resolver
ensp
ENSP00000523327
resolver
genesymbol
CNGA3
resolver
genesymbol_syn
CNCG3
resolver
hgnc
HGNC:2150
resolver
uniprot
E9PF93
resolver
uniprot
Q4VAP7
resolver
uniprot
Q53RD2
resolver
uniprot
Q6ZNA7
resolver
uniprot
Q9UP64
resolver
uniprot_entry
CNGA3_HUMAN
resolver
uniprot_sec
E9PF93
resolver
uniprot_sec
Q4VAP7
resolver
uniprot_sec
Q53RD2
resolver
uniprot_sec
Q6ZNA7
resolver
uniprot_sec
Q9UP64
resolver
activity_regulation
ACTIVITY REGULATION: Inhibited by L-cis-diltiazem. {ECO:0000269|PubMed:34969976}.
uniprot
proteins
amino_acid_sequence
MAKINTQYSHPSRTHLKVKTSDRDLNRAENGLSRAHSSSEETSSVLQPGIAMETRGLADSGQGSFTGQGIARLSRLIFLLRRWAARHVHHQDQGPDSFPDRFRGAELKEVSSQESNAQANVGSQEPADRGRSAWPLAKCNTNTSNNTEEEKKTKKKDAIVVDPSSNLYYRWLTAIALPVFYNWYLLICRACFDELQSEYLMLWLVLDYSADVLYVLDVLVRARTGFLEQGLMVSDTNRLWQHYKTTTQFKLDVLSLVPTDLAYLKVGTNYPEVRFNRLLKFSRLFEFFDRTETRTNYPNMFRIGNLVLYILIIIHWNACIYFAISKFIGFGTDSWVYPNISIPEHGRLSRKYIYSLYWSTLTLTTIGETPPPVKDEEYLFVVVDFLVGVLIFATIVGNVGSMISNMNASRAEFQAKIDSIKQYMQFRKVTKDLETRVIRWFDYLWANKKTVDEKEVLKSLPDKLKAEIAINVHLDTLKKVRIFQDCEAGLLVELVLKLRPTVFSPGDYICKKGDIGKEMYIINEGKLAVVADDGVTQFVVLSDGSYFGEISILNIKGSKSGNRRTANIRSIGYSDLFCLSKDDLMEALTEYPEAKKALEEKGRQILMKDNLIDEELARAGADPKDLEEKVEQLGSSLDTLQTRFARLLAEYNATQMKMKQRLSQLESQVKGGGDKPLADGEVPGDATKTEDKQQ
uniprot
proteins
disease_involvement
DISEASE: Achromatopsia 2 (ACHM2) [MIM:216900]: 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. {ECO:0000269|PubMed:11536077, ECO:0000269|PubMed:14757870, ECO:0000269|PubMed:15712225, ECO:0000269|PubMed:15743887, ECO:0000269|PubMed:18521937, ECO:0000269|PubMed:24903488, ECO:0000269|PubMed:26493561, ECO:0000269|PubMed:9662398}. 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 (PubMed:10888875, PubMed:12815043, PubMed:34969976, PubMed:37463923). Pore-forming subunit of the gustatory cyclic nucleotide-gated channel. In the taste buds, may sense oral extracellular pH and conduct ion currents that modulate the excitability of taste cells (By similarity). Conducts cGMP- and cAMP-gated ion currents, with permeability for monovalent and divalent cations (By similarity) (PubMed:12815043). {ECO:0000250|UniProtKB:Q29441, ECO:0000250|UniProtKB:Q9ER33, ECO:0000269|PubMed:10888875, ECO:0000269|PubMed:12815043, ECO:0000269|PubMed:34969976, ECO:0000269|PubMed:37463923}.
uniprot
proteins
mass_dalton
78838
uniprot
proteins
protein_family
CNGA3 subfamily
uniprot
proteins
protein_family
Cyclic nucleotide-gated cation channel (TC 1.A.1.5) family
uniprot
proteins
pubmed
10888875
uniprot
proteins
pubmed
11536077
uniprot
proteins
pubmed
11764791
uniprot
proteins
pubmed
12815043
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
14757870
uniprot
proteins
pubmed
15134637
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15712225
uniprot
proteins
pubmed
15743887
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
18521937
uniprot
proteins
pubmed
21878911
uniprot
proteins
pubmed
21901789
uniprot
proteins
pubmed
23033978
uniprot
proteins
pubmed
24903488
uniprot
proteins
pubmed
26493561
uniprot
proteins
pubmed
34969976
uniprot
proteins
pubmed
35233102
uniprot
proteins
pubmed
37463923
uniprot
proteins
pubmed
7532814
uniprot
proteins
pubmed
9517456
uniprot
proteins
pubmed
9662398
uniprot
proteins
sequence_length
694
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Photoreceptor outer segment membrane {ECO:0000250|UniProtKB:Q9JJZ8}; Multi-pass membrane protein {ECO:0000255}. Cell membrane {ECO:0000269|PubMed:12815043, ECO:0000269|PubMed:35233102}; Multi-pass membrane protein {ECO:0000255}. Note=Localized in cone outer segment membranes. {ECO:0000250|UniProtKB:Q9JJZ8}.
uniprot
proteins
transmembrane_region
TRANSMEM 171..192; /note="Helical; Name=S1"; /evidence="ECO:0000269|PubMed:34969976, ECO:0007744|PDB:7RHS"; TRANSMEM 199..219; /note="Helical; Name=S2"; /evidence="ECO:0000269|PubMed:34969976, ECO:0007744|PDB:7RHS"; TRANSMEM 247..266; /note="Helical; Name=S3"; /evidence="ECO:0000269|PubMed:34969976, ECO:0007744|PDB:7RHS"; TRANSMEM 271..288; /note="Helical; Name=S4"; /evidence="ECO:0000269|PubMed:34969976, ECO:0007744|PDB:7RHS"; TRANSMEM 299..321; /note="Helical; Name=S5"; /evidence="ECO:0000269|PubMed:34969976, ECO:0007744|PDB:7RHS"; TRANSMEM 348..378; /note="Helical; Name=P-helix"; /evidence="ECO:0000269|PubMed:34969976, ECO:0007744|PDB:7RHS"; TRANSMEM 379..403; /note="Helical; Name=S6"; /evidence="ECO:0000269|PubMed:34969976, ECO:0007744|PDB:7RHS
uniprot
proteins