CNGA3 - cyclic nucleotide gated channel subunit alpha 3 Gene
Also Known as CNG3; ACHM2; CCNC1; CCNCa; CNCG3; CCNCalpha
Species: Homo sapiens
About CNGA3
This gene has 4 transcripts (splice variants), 282 orthologues, 17 paralogues and is associated with 5 phenotypes. Low expression observed in reference dataset.
Summary
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 Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_001079878.2 | NP_001073347.1 | cyclic nucleotide-gated cation channel alpha-3 isoform 2 |
| NM_001298.3 | NP_001289.1 | cyclic nucleotide-gated cation channel alpha-3 isoform 1 |
CNGA3 Protein Structure
Ion_trans: Ion transport protein (206 - 399)
cNMP_binding: Cyclic nucleotide-binding domain (502 - 593)
- 0
- 200
- 400
- 600
- 694 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
cyclic nucleotide-gated cation channel alpha-3 |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Achromatopsia 2 |
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| Achromatopsia |
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| Cone Dystrophy |
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| Eye Disease |
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| Cone-Rod Dystrophy 2 |
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| Fundus Dystrophy |
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| Color Blindness |
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| Macular Degeneration, Age-Related, 1 |
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| Enhanced S-Cone Syndrome |
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| Achromatopsia 3 |
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| Retinoschisis 1, X-Linked, Juvenile |
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| Progressive Cone Dystrophy |
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| Retinitis Pigmentosa 69 |
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| Blue Cone Monochromacy |
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| Achromatopsia 4 |
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| Achromatopsia 7 |
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| Solar Retinopathy |
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| Cycloplegia |
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| Red-Green Color Blindness |
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| Microphthalmia, Syndromic 5 |
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| Choroid Disease |
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| Prolonged Electroretinal Response Suppression |
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| Cone-Rod Dystrophy 8 |
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| Pathologic Nystagmus |
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| Colorblindness, Partial, Protan Series |
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| Scotoma |
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| Retinitis Pigmentosa 4 |
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| Cone-Rod Dystrophy 9 |
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| Tritanopia |
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| Congenital Nystagmus |
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| Amelogenesis Imperfecta |
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| Chorioretinal Scar |
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| Occult Macular Dystrophy |
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| Stargardt Disease |
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| Choroideremia |
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| Peripheral Retinal Degeneration |
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| Eye Accommodation Disease |
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| Retinitis Pigmentosa 26 |
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| Gyrate Atrophy Of Choroid And Retina |
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| Vitelliform Macular Dystrophy |
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| Congenital Stationary Night Blindness |
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| Retinitis Pigmentosa |
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| Eye Degenerative Disease |
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| Leber Plus Disease |
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| Leber Congenital Amaurosis 1 |
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| Usher Syndrome |
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| Leber Hereditary Optic Neuropathy, Modifier Of |
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