CNGA3 - cyclic nucleotide gated channel subunit alpha 3 Gene

Also Known as CNG3; ACHM2; CCNC1; CCNCa; CNCG3; CCNCalpha

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 1261

About CNGA3

Cytogenetic location: 2q11.2 Genomic coordinates (GRCh38): 2:98,346,456-98,398,601 (from NCBI)

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_trans: Ion transport protein (206 - 399)

cNMP_binding

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

  • CNG channel alpha-3

CNGA3 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
CNGA3 Q16281 MIS18A Homo sapiens Q9NYP9 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Achromatopsia 2
  • ACHM2

  • Rod Monochromatism 2

  • Rod Monochromacy 2

  • Rmch2

  • Colorblindness, Total

  • Complete Achromatopsia

  • Total Colorblindness

  • Achromatopsia-2

  • Achromatopsia, Type 2

  • Color Blindness

  • Achromatopsia

Achromatopsia
  • Achm

  • Rod Monochromatism

  • Total Color Blindness

  • Rod Monochromacy

  • Monochromatism

  • Achromatism

  • Complete Or Incomplete Color Blindness

  • Pingelapese Blindness

  • Achromatopsia 1

  • Achromatopsia 2

  • Achromatopsia 3

Cone Dystrophy
  • Retinal Cone Dystrophy

  • Dystrophy, Cone

  • Cone Dystrophy 3

Eye Disease
  • Eye Diseases

  • Abnormality Of The Eye

  • Toxoplasma Oculopathy

Cone-Rod Dystrophy 2
  • Cone-Rod Dystrophy

  • CORD2

  • Cone-Rod Retinal Dystrophy

  • Rcrd2

  • Cone-Rod Retinal Dystrophy 2

  • Crd2

  • Cord

  • Crd

  • Retinal Cone-Rod Dystrophy

  • Cone-Rod Retinal Dystrophy-2

  • Retinal Cone-Rod Dystrophy 2

  • Tapetoretinal Degeneration

  • Cone-Rod Degeneration

  • Cone Rod Dystrophy

  • Dystrophy, Cone-Rod

  • Dystrophy, Cone-Rod, Type 2

  • Retinitis Pigmentosa

  • Retinitis Pigmentosa 2

  • Progressive Cone-Rod Dystrophy

Fundus Dystrophy
  • Retinal Dystrophy

  • Retinal Dystrophies

  • Dystrophy, Retinal

Color Blindness
  • Color Vision Defect

  • Blindness Color

  • Colour Blindness

  • Colour Vision Deficiency

  • Color Vision Deficiency

  • Color Vision Defects

  • Defective Color Vision

  • Vision Defect, Color

  • Color-Vision Disease

  • Dyschromatopsia

Macular Degeneration, Age-Related, 1
  • Macular Degeneration

  • Age-Related Macular Degeneration

  • Macular Degeneration, Age-Related

  • Age Related Macular Degeneration

  • Age Related Macular Degeneration 1

  • ARMD1

  • Senile Macular Degeneration

  • Maculopathy, Age-Related, 1

  • Macular Degeneration, Age-Related, Reduced Risk Of

  • Age Related Maculopathy 1

  • Age Related Maculopathies

  • Age Related Maculopathy

  • Senile Macular Retinal Degeneration

  • Macular Degeneration Of Retina

  • Age-Related Maculopathy

  • Amd

  • Armd

  • Age-Related Maculopathy, Susceptibility To

  • Maculopathy Age-Related

  • Macular Degeneration, Age-Related, 1, Susceptibility To

  • Maculopathy, Age-Related

  • Macular Degeneration, Age-Related, Type 1

  • Macular Degeneration, Age-Related, 2

Enhanced S-Cone Syndrome
  • Goldmann-Favre Syndrome

  • ESCS

  • Favre Hyaloideoretinal Degeneration

  • Retinoschisis With Early Hemeralopia

  • Retinoschisis With Early Nyctalopia

  • Enhanced S Cone Syndrome

  • S-Cone Syndrome, Enhanced

Achromatopsia 3
  • ACHM3

  • Pingelapese Blindness

  • Total Colorblindness With Myopia

  • Achromatopsia With Myopia

  • Achm1

  • Rmch1

  • Rod Monochromacy 1

  • Rod Monochromatism 1

  • Achm1, Formerly

  • Rod Monochromatism 1, Formerly

  • Rod Monochromacy 1, Formerly

  • Rmch1, Formerly

  • Achromatopsia-3

  • Achromatopsia, Type 3

Retinoschisis 1, X-Linked, Juvenile
  • Retinoschisis

  • X-Linked Retinoschisis

  • X-Linked Juvenile Retinoschisis

  • RS1

  • XLRS1

  • X-Linked Juvenile Retinoschisis 1

  • Xlrs

  • Retinoschisis, X-Linked

  • Rs

  • Congenital X-Linked Retinoschisis

  • Degenerative Retinoschisis

  • Juvenile Retinoschisis

  • Xjr

  • Retinoschisis Juvenile X-Linked 1

  • Retinoschisis, Juvenile, X-Linked

  • Retinoschisis, Degenerative

Progressive Cone Dystrophy
  • Cone Dystrophy

  • Cone Dystrophy Progressive

Retinitis Pigmentosa 69
  • RP69

  • Retinitis Pigmentosa, Type 69

Blue Cone Monochromacy
  • Blue Cone Monochromatism

  • BCM

  • Cbbm

  • Color Blindness Blue Mono Cone Monochromatic Type

  • Cone Dystrophy 5, X-Linked

  • Colorblindness, Blue-Mono-Cone-Monochromatic Type

  • Achromatopsia Incomplete X-Linked

  • Incomplete Achromatopsia X-Linked

  • X-Chromosome-Linked Achromatopsia

  • X-Linked Achromatopsia Incomplete

  • Atypical X-Linked Achromatopsia

  • Color Blindness, Blue Monocone Monochromatic Type

  • S Cone Monochromacy

  • S Cone Monochromatism

  • X-Linked Incomplete Achromatopsia

  • Colorblindness Blue-Mono-Cone-Monochromatic Type

  • Cone Dystrophy 5

  • COD5

  • Cone Dystrophy 5 X-Linked

  • Monochromacy, Blue Cone

  • Cone Monochromatism

  • Achromatopsia Incomplete, X-Linked

Achromatopsia 4
  • ACHM4

  • Achromatopsia, Type 4

Achromatopsia 7
  • ACHM7

  • Achromatopsia, Type 7

Solar Retinopathy
  • Solar Retinitis

Cycloplegia
  • Ciliary Muscle Paresis

  • Cycloplegic Paralysis Of Accommodation

  • Paresis Of Accommodation

  • Visual Accommodation Paralysis

  • Accommodation Paralysis

  • Intrinsic Paralysis Of Eye Muscle

  • Cycloplegic

Red-Green Color Blindness
  • Deutan Defect

  • Deuteranopia

  • Reduced Red-Green Discrimination

  • Color Blindness, Red-Green

  • Colorblindness, Partial, Deutan Series

Microphthalmia, Syndromic 5
  • MCOPS5

  • Syndromic Microphthalmia Type 5

  • Retinal Dystrophy, Early-Onset, With Or Without Pituitary Dysfunction

  • Syndromic Microphthalmia 5

  • Syndromic Microphthalmia/Anophthalmia Due To Otx2 Mutation

  • Microphthalmia Syndromic 5

  • Otx2-Related Eye Disorders

  • Microphthalmia, Syndromic, 5

  • RDEOP

  • Microphthalmia, Syndromic, Type 5

Choroid Disease
  • Choroid Diseases

  • Abnormality Of The Choroid

Prolonged Electroretinal Response Suppression
  • Bradyopsia

  • PERRS

Cone-Rod Dystrophy 8
  • CORD8

Pathologic Nystagmus
  • Nystagmus

Colorblindness, Partial, Protan Series
  • Protanopia

  • Red Color Blindness

  • Protan Defect

  • CBP

  • Red Colorblindness

  • Colorblindness, Protan

  • Color Blindness, Red

Scotoma
  • Enlarged Blind Spot

  • Scotoma Of Blind Spot Area

  • Blind Spot Area Scotoma

  • Enlarged Angioscotoma

  • Enlarged Paracaecal Scotoma

  • Generalized Visual Field Contraction Or Constriction

  • Sector Or Arcuate Visual Field Defects

Retinitis Pigmentosa 4
  • RP4

  • Retinitis Pigmentosa 4, Autosomal Dominant Or Recessive

  • Retinitis Pigmentosa, Rhodopsin-Related

  • Retinitis Pigmentosa, Type 4

Cone-Rod Dystrophy 9
  • CORD9

  • Dystrophy, Cone-Rod, Type 9

  • Retinitis Pigmentosa 9

Tritanopia
  • Blue Color Blindness

  • Colorblindness, Tritan

  • Blue Colorblindness

  • CBT

  • Colorblindness, Tritanopic

  • Tritan Defect

  • Blue Colour Blindness

  • Congenital Tritanopia

  • Tritan Colour Blindness

  • Tritan Color Blindness

  • Color Vision Defects

  • Color Blindness, Blue

  • Color Vision Defect

  • Color Blindness

Congenital Nystagmus
  • Nystagmus, Congenital

  • Nystagmus Congenital

Amelogenesis Imperfecta
  • Ai

  • Congenital Enamel Hypoplasia

  • Al - [Amelogenesis Imperfecta]

Chorioretinal Scar
  • Chorioretinal Cicatrix

  • Cicatrix Of Choroid

  • Choroid Scar

  • Macula Scar

  • Macular Scarring

  • Retinal Cicatrix

  • Retinal Scar

Occult Macular Dystrophy
  • OCMD

  • Omd

  • Dystrophy, Macular, Occult

Stargardt Disease
  • Stargardt Disease 1

  • Stargardt Macular Dystrophy

  • Stargardt Disease-1

  • Juvenile Onset Macular Degeneration

  • Stargardt Macular Degeneration

  • Juvenile Macular Degeneration

  • Macular Dystrophy With Flecks, Type 1

  • Stgd

  • Fundus Flavimaculatus

  • Stargardt 1

  • Stargardts Disease

Choroideremia
  • CHM

  • Tcd

  • Progressive Tapetochoroidal Dystrophy

  • Choroidal Sclerosis

  • Tapetochoroidal Dystrophy, Progressive

  • Progressive Choroidal Atrophy

  • Tapetochoroidal Dystrophy

Peripheral Retinal Degeneration
  • Peripheral Degeneration Of Retina

  • Degeneration Of Retina Nos

  • Reticular Retinal Degeneration

  • Retinal Degeneration

Eye Accommodation Disease
Retinitis Pigmentosa 26
  • RP26

  • Retinitis Pigmentosa-26

  • Retinitis Pigmentosa, Type 26

Gyrate Atrophy Of Choroid And Retina
  • Gyrate Atrophy

  • Ornithine Aminotransferase Deficiency

  • HOGA

  • Hyperornithinemia With Gyrate Atrophy Of Choroid And Retina

  • Oat Deficiency

  • Okt Deficiency

  • Hyperornithinemia

  • Ornithine Keto Acid Aminotransferase Deficiency

  • Ornithine-Delta-Aminotransferase Deficiency

  • Gyrate Atrophy Of The Choroid And Retina

  • GACR

  • Gyrate Atrophy Of Choroid And Retina With Or Without Ornithinemia

  • Gyrate Atrophy Of The Retina

  • Ornithinemia With Gyrate Atrophy

  • Ornithinemia

  • Fuchs Atrophia Gyrata Chorioideae Et Retinae

  • Hyperornithinemia-Gyrate Atrophy Of Choroid And Retina Syndrome

  • Gyrate Atrophy Of The Choroid And/Or Retina

  • Girate Atrophy Of The Retina

  • Ornithine Ketoacid Aminotransferase Deficiency

  • Atrophy, Gyrate, Of Choroid And Retina

Vitelliform Macular Dystrophy
  • Best Disease

  • Juvenile-Onset Vitelliform Macular Dystrophy

  • Macular Dystrophy, Vitelliform

  • Best Macular Dystrophy

  • Vitelliform Dystrophy

Congenital Stationary Night Blindness
  • Night Blindness, Congenital Stationary

  • Congenital Essential Nyctalopia

  • Oguchi Disease

  • Blindness, Night, Stationary, Congenital

Retinitis Pigmentosa
  • RP

  • Rod-Cone Dystrophy

  • Autosomal Recessive Retinitis Pigmentosa

  • Non-Syndromic Retinitis Pigmentosa

  • Pericentral Pigmentary Retinopathy

  • Pigmentary Retinopathy

  • Tapetoretinal Degeneration

  • Rcd

  • Retinitis Pigmentosa Autosomal Recessive

  • ARRP

  • Retinitis Pigmentosa, Autosomal Recessive

  • Retinitis Pigmentosa 1

Eye Degenerative Disease
Leber Plus Disease
  • Leber Congenital Amaurosis

  • Lca

  • Leber'S Amaurosis

  • Leber'S Disease

  • Amaurosis Congenita Of Leber

  • Amaurosis Congenita Of Leber, Type 1

  • Lhon Plus Disease

  • Congenital Absence Of The Rods And Cones

  • Congenital Retinal Blindness

  • Crb

  • Congenital Amaurosis Of Retinal Origin

  • Leber'S Congenital Amaurosis

  • Leber Congenital Amaurosis 1

  • Leber'S Congenital Tapetoretinal Degeneration

  • Leber'S Congenital Tapetoretinal Dysplasia

  • Lca1

  • Leber Congenital Amaurosis Type 1

  • Retinal Blindness, Congenital

  • Amaurosis, Leber Congenital

  • Dysgenesis Neuroepithelialis Retinae

  • Hereditary Epithelial Dysplasia Of Retina

  • Hereditary Retinal Aplasia

  • Heredoretinopathia Congenitalis

  • Leber Abiotrophy

  • Leber Congenital Tapetoretinal Degeneration

  • Lebers Congenital Amaurosis

  • Optic Atrophy, Hereditary, Leber

Leber Congenital Amaurosis 1
  • LCA1

  • Amaurosis Congenita Of Leber I

  • Lca

  • Retinal Blindness, Congenital

  • Crb

  • Leber Congenital Amaurosis Type I

  • Leber Congenital Amaurosis, Type 1

  • Amaurosis Congenita Of Leber, Type 1

Usher Syndrome
  • Deafness-Retinitis Pigmentosa Syndrome

  • Dystrophia Retinae Pigmentosa-Dysostosis Syndrome

  • Graefe-Usher Syndrome

  • Hallgren Syndrome

  • Usher'S Syndrome

  • Retinitis Pigmentosa-Deafness Syndrome

  • Retinitis Pigmentosa-Hearing Loss Syndrome

  • Ush

  • Usher Syndromes

Leber Hereditary Optic Neuropathy, Modifier Of
  • Leber Optic Atrophy

  • Leber Hereditary Optic Neuropathy

  • LHON

  • Leber'S Hereditary Optic Neuropathy

  • Leber Optic Atrophy, Susceptibility To

  • Leber'S Optic Atrophy

  • LOAM

  • Loas

  • Leber'S Disease

  • Leber'S Optic Neuropathy

  • Optic Atrophy, Hereditary, Leber

  • Lhon, Modifier Of

  • Optic Atrophy, Leber Type

  • Hereditary Optic Neuroretinopathy

  • Leber Hereditary Optic Atrophy

  • Loa

  • Optic Atrophy Leber Type

  • Leber Hereditary Optic Neuropathy, Modifier

  • Leber Hereditary Optic Neuropathy Susceptibility

  • Modifier Of Leber Hereditary Optic Neuropathy

  • Lebers Hereditary Optic Neuropathy

  • Leber Congenital Amaurosis

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Macaca mulatta CNGA3 VGNC VGNC:71274
Bos taurus CNGA3 VGNC VGNC:27499
Felis catus CNGA3 VGNC VGNC:80070
Mus musculus CNGA3 MGD MGI:1341818
Rattus norvegicus CNGA3 RGD RGD:70948