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This gene encodes a member of the cyclic nucleotide-gated cation channel protein family which is required for normal vision and olfactory signal transduction. Mutations in this gene are associated with achromatopsia (rod monochromacy) and color blindness. Two alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
CNGA3 (Cyclic Nucleotide Gated Channel Subunit Alpha 3) is a Protein Coding gene. Diseases associated with CNGA3 include Achromatopsia 2 and Achromatopsia. Among its related pathways are Sweet Taste Signaling and Activation of cAMP-Dependent PKA. Gene Ontology (GO) annotations related to this gene include protein C-terminus binding and voltage-gated potassium channel activity. An important paralog of this gene is CNGA1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0005216 | ion channel activity | IEA | -- |
GO:0005222 | intracellular cAMP-activated cation channel activity | IBA | 21873635 |
GO:0005223 | intracellular cGMP-activated cation channel activity | IEA,IMP | 24164424 |
GO:0008022 | protein C-terminus binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA | -- |
GO:0005886 | plasma membrane | IEA | -- |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
GO:0030425 | dendrite | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Activation of cAMP-Dependent PKA |
Activation of cAMP-Dependent PKA
.77
cAMP Pathway
.77
|
PKA Signaling
.56
|
2 | Sweet Taste Signaling |
Cellular Effects of Sildenafil
.46
|
Sperm Motility
.37
|
3 | cAMP signaling pathway | ||
4 | Olfactory transduction | ||
5 | Neuropathic Pain-Signaling in Dorsal Horn Neurons |
Cholera Infection
.40
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006811 | ion transport | IEA | -- |
GO:0006812 | cation transport | IMP | 24164424 |
GO:0007165 | signal transduction | TAS | 9517456 |
GO:0007601 | visual perception | TAS,IEA | -- |
GO:0031960 | response to corticosteroid | IEA | -- |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CNGA3 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | CNGA3 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | CNGA3 30 |
|
||
Rat (Rattus norvegicus) |
Mammalia | Cnga3 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Cnga3 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | CNGA3 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | CNGA3 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | CNGA3 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100494840 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.31126 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | cnga3a 30 31 |
|
OneToMany | |
cnga3b 31 |
|
OneToMany | |||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.151 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG3536 32 |
|
|
|
Cng 30 31 32 |
|
OneToMany | |||
cngl 32 |
|
|
|||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP009050 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | tax-4 30 31 32 |
|
ManyToMany | |
F14H8.6 32 |
|
|
|||
cng-1 31 |
|
ManyToMany | |||
Y76B12C.1 32 |
|
|
|||
wrt-3 32 |
|
|
|||
che-6 31 |
|
ManyToMany | |||
cng-3 31 |
|
ManyToMany | |||
cng-2 31 |
|
ManyToMany | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
635158 | Pathogenic: Retinal dystrophy; Achromatopsia | 98,396,101(+) | CTCA/C | INFRAME_DELETION | |
689726 | Pathogenic/Likely Pathogenic: Retinal dystrophy; Achromatopsia 2 | 98,395,948(+) | G/A | MISSENSE_VARIANT | |
711262 | Conflicting Interpretations: Achromatopsia 2; not provided | 98,397,033(+) | G/A | SYNONYMOUS_VARIANT | |
711330 | Benign: not provided | 98,370,056(+) | C/T | SYNONYMOUS_VARIANT | |
712356 | Benign: not provided | 98,380,312(+) | A/G | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
nsv1013617 | CNV | loss | 25217958 |
nsv518056 | CNV | gain | 19592680 |
Disorder | Aliases | PubMed IDs |
---|---|---|
achromatopsia 2 |
|
|
achromatopsia |
|
|
color vision deficiency |
|
|
eye disease |
|
|
ifap syndrome with or without bresheck syndrome |
|
|