Cyclic nucleotide-gated channel alpha 3

Protein-coding gene in the species Homo sapiens
CNGA3
Available structures
PDBOrtholog search: PDBe RCSB
List of PDB id codes

3SWY

Identifiers
AliasesCNGA3, ACHM2, CCNC1, CCNCa, CCNCalpha, CNCG3, CNG3, Cyclic nucleotide-gated channel alpha 3, cyclic nucleotide gated channel alpha 3, cyclic nucleotide gated channel subunit alpha 3
External IDsOMIM: 600053 MGI: 1341818 HomoloGene: 994 GeneCards: CNGA3
Gene location (Human)
Chromosome 2 (human)
Chr.Chromosome 2 (human)[1]
Chromosome 2 (human)
Genomic location for CNGA3
Genomic location for CNGA3
Band2q11.2Start98,346,188 bp[1]
End98,398,601 bp[1]
Gene location (Mouse)
Chromosome 1 (mouse)
Chr.Chromosome 1 (mouse)[2]
Chromosome 1 (mouse)
Genomic location for CNGA3
Genomic location for CNGA3
Band1|1 BStart37,253,515 bp[2]
End37,302,465 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • ganglionic eminence

  • islet of Langerhans

  • pituitary gland

  • anterior pituitary

  • gastric mucosa

  • right uterine tube

  • rectum

  • hypothalamus

  • transverse colon

  • smooth muscle tissue
Top expressed in
  • spermatid

  • quadriceps femoris muscle

  • male reproductive system

  • testicle

  • muscle tissue

  • anterior segment of eyeball

  • lens

  • hypothalamus

  • adrenal gland

  • blastocyst
More reference expression data
BioGPS
More reference expression data
Gene ontology
Molecular function
  • intracellular cGMP-activated cation channel activity
  • nucleotide binding
  • cGMP binding
  • ion channel activity
  • ligand-gated ion channel activity
  • voltage-gated potassium channel activity
  • protein C-terminus binding
  • intracellular cAMP-activated cation channel activity
Cellular component
  • cytoplasm
  • integral component of membrane
  • perikaryon
  • membrane
  • neuronal cell body
  • dendrite
  • photoreceptor outer segment membrane
  • transmembrane transporter complex
  • integral component of plasma membrane
  • plasma membrane
  • axon initial segment
  • glial cell projection
Biological process
  • response to stimulus
  • regulation of membrane potential
  • cation transport
  • response to magnesium ion
  • ion transport
  • ion transmembrane transport
  • response to corticosteroid
  • transmembrane transport
  • response to cAMP
  • signal transduction
  • visual perception
  • cation transmembrane transport
  • potassium ion transmembrane transport
  • inorganic cation import across plasma membrane
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

1261

12790

Ensembl

ENSG00000144191

ENSMUSG00000026114

UniProt

Q16281

Q9JJZ8

RefSeq (mRNA)

NM_001079878
NM_001298

NM_001282010
NM_009918

RefSeq (protein)

NP_001073347
NP_001289

NP_001268939
NP_034048

Location (UCSC)Chr 2: 98.35 – 98.4 MbChr 1: 37.25 – 37.3 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Cyclic nucleotide-gated cation channel alpha-3 is a protein that in humans is encoded by the CNGA3 gene.[5][6][7][8]

Function

This gene encodes a member of the cyclic nucleotide-gated cation channel protein family, which is required for normal vision and olfactory signal transduction. CNGA3 is expressed in cone photoreceptors and is necessary for color vision.[9] Missense mutations in this gene are associated with rod monochromacy and segregate in an autosomal recessive pattern.[9] Two alternatively-spliced transcripts encoding different isoforms have been described.[8]

Clinical relevance

Variants in this gene have been shown to cause achromatopsia[10] and colour blindness.

See also

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000144191 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000026114 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Distler M, Biel M, Flockerzi V, Hofmann F (November 1994). "Expression of cyclic nucleotide-gated cation channels in non-sensory tissues and cells". Neuropharmacology. 33 (11): 1275–82. doi:10.1016/0028-3908(94)90027-2. PMID 7532814. S2CID 35784152.
  6. ^ Wissinger B, Müller F, Weyand I, Schuffenhauer S, Thanos S, Kaupp UB, Zrenner E (December 1997). "Cloning, chromosomal localization and functional expression of the gene encoding the alpha-subunit of the cGMP-gated channel in human cone photoreceptors". The European Journal of Neuroscience. 9 (12): 2512–21. doi:10.1111/j.1460-9568.1997.tb01680.x. PMID 9517456. S2CID 2839367.
  7. ^ Hofmann F, Biel M, Kaupp UB (December 2005). "International Union of Pharmacology. LI. Nomenclature and structure-function relationships of cyclic nucleotide-regulated channels". Pharmacological Reviews. 57 (4): 455–62. doi:10.1124/pr.57.4.8. PMID 16382102. S2CID 45853869.
  8. ^ a b "Entrez Gene: CNGA3 cyclic nucleotide gated channel alpha 3".
  9. ^ a b Kohl S, Marx T, Giddings I, Jägle H, Jacobson SG, Apfelstedt-Sylla E, et al. (July 1998). "Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel". Nature Genetics. 19 (3): 257–9. doi:10.1038/935. PMID 9662398. S2CID 12040233.
  10. ^ Lam K, Guo H, Wilson GA, Kohl S, Wong F (September 2011). "Identification of variants in CNGA3 as cause for achromatopsia by exome sequencing of a single patient". Archives of Ophthalmology. 129 (9): 1212–7. doi:10.1001/archophthalmol.2011.254. PMID 21911670. S2CID 36011909.

Further reading

  • Arbour NC, Zlotogora J, Knowlton RG, Merin S, Rosenmann A, Kanis AB, et al. (May 1997). "Homozygosity mapping of achromatopsia to chromosome 2 using DNA pooling". Human Molecular Genetics. 6 (5): 689–94. doi:10.1093/hmg/6.5.689. PMID 9158143.
  • Kohl S, Marx T, Giddings I, Jägle H, Jacobson SG, Apfelstedt-Sylla E, et al. (July 1998). "Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel". Nature Genetics. 19 (3): 257–9. doi:10.1038/935. PMID 9662398. S2CID 12040233.
  • Wissinger B, Jägle H, Kohl S, Broghammer M, Baumann B, Hanna DB, et al. (August 1998). "Human rod monochromacy: linkage analysis and mapping of a cone photoreceptor expressed candidate gene on chromosome 2q11". Genomics. 51 (3): 325–31. doi:10.1006/geno.1998.5390. PMID 9721202.
  • Sundin OH, Yang JM, Li Y, Zhu D, Hurd JN, Mitchell TN, et al. (July 2000). "Genetic basis of total colourblindness among the Pingelapese islanders". Nature Genetics. 25 (3): 289–93. doi:10.1038/77162. PMID 10888875. S2CID 22948732.
  • Wissinger B, Gamer D, Jägle H, Giorda R, Marx T, Mayer S, et al. (October 2001). "CNGA3 mutations in hereditary cone photoreceptor disorders". American Journal of Human Genetics. 69 (4): 722–37. doi:10.1086/323613. PMC 1226059. PMID 11536077.
  • Zhong H, Molday LL, Molday RS, Yau KW (November 2002). "The heteromeric cyclic nucleotide-gated channel adopts a 3A:1B stoichiometry". Nature. 420 (6912): 193–8. Bibcode:2002Natur.420..193Z. doi:10.1038/nature01201. PMC 2877395. PMID 12432397.
  • Johnson S, Michaelides M, Aligianis IA, Ainsworth JR, Mollon JD, Maher ER, et al. (February 2004). "Achromatopsia caused by novel mutations in both CNGA3 and CNGB3". Journal of Medical Genetics. 41 (2): 20e–20. doi:10.1136/jmg.2003.011437. PMC 1735666. PMID 14757870.
  • Faillace MP, Bernabeu RO, Korenbrot JI (May 2004). "Cellular processing of cone photoreceptor cyclic GMP-gated ion channels: a role for the S4 structural motif". The Journal of Biological Chemistry. 279 (21): 22643–53. doi:10.1074/jbc.M400035200. PMID 15024024.
  • Peng C, Rich ED, Varnum MD (May 2004). "Subunit configuration of heteromeric cone cyclic nucleotide-gated channels". Neuron. 42 (3): 401–10. doi:10.1016/S0896-6273(04)00225-9. PMID 15134637. S2CID 16989789.
  • Nishiguchi KM, Sandberg MA, Gorji N, Berson EL, Dryja TP (March 2005). "Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases". Human Mutation. 25 (3): 248–58. doi:10.1002/humu.20142. PMID 15712225. S2CID 10889075.
  • Liu C, Varnum MD (July 2005). "Functional consequences of progressive cone dystrophy-associated mutations in the human cone photoreceptor cyclic nucleotide-gated channel CNGA3 subunit". American Journal of Physiology. Cell Physiology. 289 (1): C187-98. doi:10.1152/ajpcell.00490.2004. PMID 15743887.
  • Varsányi B, Wissinger B, Kohl S, Koeppen K, Farkas A (November 2005). "Clinical and genetic features of Hungarian achromatopsia patients". Molecular Vision. 11: 996–1001. PMID 16319819.
  • Goto-Omoto S, Hayashi T, Gekka T, Kubo A, Takeuchi T, Kitahara K (2006). "Compound heterozygous CNGA3 mutations (R436W, L633P) in a Japanese patient with congenital achromatopsia". Visual Neuroscience. 23 (3–4): 395–402. doi:10.1017/S095252380623308X. PMID 16961972. S2CID 22582346.

External links

  • GeneReviews/NIH/NCBI/UW entry on Achromatopsia
  • OMIM entries on Achromatopsia
  • CNGA3+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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Ligand-gated
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Constitutively active
Proton-gated
Voltage-gated
Calcium-activated
Inward-rectifier
Tandem pore domain
Voltage-gated
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