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Aliases for CNGA3 Gene

Aliases for CNGA3 Gene

  • Cyclic Nucleotide Gated Channel Alpha 3 2 3
  • CNG3 3 4 6
  • Cone Photoreceptor CGMP-Gated Channel Subunit Alpha 3 4
  • Cyclic Nucleotide-Gated Channel Alpha-3 3 4
  • CNG Channel Alpha-3 3 4
  • CNCG3 3 4
  • ACHM2 3 6
  • CNG-3 3 4
  • Cone Photoreceptor CGMP-Gated Channel Alpha Subunit 3
  • Cyclic Nucleotide-Gated Cation Channel Alpha-3 3
  • CCNCalpha 3
  • CCNC1 3
  • CCNCa 3

External Ids for CNGA3 Gene

Previous Symbols for CNGA3 Gene

  • CNCG3
  • ACHM2

Summaries for CNGA3 Gene

Entrez Gene Summary for CNGA3 Gene

  • 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]

GeneCards Summary for CNGA3 Gene

CNGA3 (Cyclic Nucleotide Gated Channel Alpha 3) is a Protein Coding gene. Diseases associated with CNGA3 include achromatopsia-2 and color blindness. Among its related pathways are CREB Pathway and Activation of cAMP-Dependent PKA. GO annotations related to this gene include voltage-gated potassium channel activity and ligand-gated ion channel activity. An important paralog of this gene is KCNH1.

UniProtKB/Swiss-Prot for CNGA3 Gene

  • Visual signal transduction is mediated by a G-protein coupled cascade using cGMP as second messenger. This protein can be activated by cyclic GMP which leads to an opening of the cation channel and thereby causing a depolarization of cone photoreceptors. Induced a flickering channel gating, weakened the outward rectification in the presence of extracellular calcium, increased sensitivity for L-cis diltiazem and enhanced the cAMP efficacy of the channel when coexpressed with CNGB3 (By similarity). Essential for the generation of light-evoked electrical responses in the red-, green- and blue sensitive cones.

Gene Wiki entry for CNGA3 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CNGA3 Gene

Genomics for CNGA3 Gene

Genomic Location for CNGA3 Gene

Start:
98,346,155 bp from pter
End:
98,398,601 bp from pter
Size:
52,447 bases
Orientation:
Plus strand

Genomic View for CNGA3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CNGA3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CNGA3 Gene

Regulatory Elements for CNGA3 Gene

Proteins for CNGA3 Gene

  • Protein details for CNGA3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q16281-CNGA3_HUMAN
    Recommended name:
    Cyclic nucleotide-gated cation channel alpha-3
    Protein Accession:
    Q16281
    Secondary Accessions:
    • E9PF93
    • Q4VAP7
    • Q53RD2
    • Q6ZNA7
    • Q9UP64

    Protein attributes for CNGA3 Gene

    Size:
    694 amino acids
    Molecular mass:
    78838 Da
    Quaternary structure:
    • Tetramer formed of three CNGA3 and one CNGB3 modulatory subunits.

    Three dimensional structures from OCA and Proteopedia for CNGA3 Gene

    Alternative splice isoforms for CNGA3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CNGA3 Gene

Proteomics data for CNGA3 Gene at MOPED

Post-translational modifications for CNGA3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CNGA3 Gene

No data available for DME Specific Peptides for CNGA3 Gene

Domains for CNGA3 Gene

Gene Families for CNGA3 Gene

HGNC:
  • CNG :Voltage-gated ion channels / Cyclic nucleotide-regulated channels
IUPHAR :

UniProtKB/Swiss-Prot:

CNGA3_HUMAN
Domain:
  • The C-terminal coiled-coil domain mediates homotrimerization of CNGA subunits:
    • Q16281
  • Contains 1 cyclic nucleotide-binding domain.:
    • Q16281
Family:
  • Belongs to the cyclic nucleotide-gated cation channel (TC 1.A.1.5) family. CNGA3 subfamily.:
    • Q16281
genes like me logo Genes that share domains with CNGA3: view

Function for CNGA3 Gene

Molecular function for CNGA3 Gene

GENATLAS Biochemistry: cyclic guanine nucleotidealpha 3 subunit gated channel (cGMP),cone photoreceptor,alpha 3subunit,also expressed at low levels in bipolar cells,ganglion cells and Muller glial cells,also detected in sperm,kidney,heart,brain
UniProtKB/Swiss-Prot Function: Visual signal transduction is mediated by a G-protein coupled cascade using cGMP as second messenger. This protein can be activated by cyclic GMP which leads to an opening of the cation channel and thereby causing a depolarization of cone photoreceptors. Induced a flickering channel gating, weakened the outward rectification in the presence of extracellular calcium, increased sensitivity for L-cis diltiazem and enhanced the cAMP efficacy of the channel when coexpressed with CNGB3 (By similarity). Essential for the generation of light-evoked electrical responses in the red-, green- and blue sensitive cones.

Gene Ontology (GO) - Molecular Function for CNGA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005216 ion channel activity --
GO:0005221 intracellular cyclic nucleotide activated cation channel activity --
GO:0005222 intracellular cAMP activated cation channel activity IBA --
GO:0005223 intracellular cGMP activated cation channel activity IMP 24164424
GO:0005249 voltage-gated potassium channel activity IBA --
genes like me logo Genes that share ontologies with CNGA3: view
genes like me logo Genes that share phenotypes with CNGA3: view

Animal Models for CNGA3 Gene

MGI Knock Outs for CNGA3:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for CNGA3 Gene

Localization for CNGA3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CNGA3 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CNGA3 Gene COMPARTMENTS Subcellular localization image for CNGA3 gene
Compartment Confidence
plasma membrane 3
cytosol 2
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for CNGA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001750 photoreceptor outer segment --
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane --
GO:0005887 integral component of plasma membrane IBA --
GO:0016020 membrane --
genes like me logo Genes that share ontologies with CNGA3: view

Pathways for CNGA3 Gene

genes like me logo Genes that share pathways with CNGA3: view

Pathways by source for CNGA3 Gene

Interacting Proteins for CNGA3 Gene

Gene Ontology (GO) - Biological Process for CNGA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport TAS 9517456
GO:0006811 ion transport --
GO:0006812 cation transport IMP 24164424
GO:0007165 signal transduction TAS 9517456
GO:0007601 visual perception IEA --
genes like me logo Genes that share ontologies with CNGA3: view

Compounds for CNGA3 Gene

(4) HMDB Compounds for CNGA3 Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2
Cyclic AMP
  • Cyclic AMP
60-92-4
Cyclic GMP
  • 3',5'-cyclic GMP
7665-99-8
Guanosine monophosphate
  • 5'-GMP
85-32-5

(3) IUPHAR Ligand for CNGA3 Gene

Ligand Type Action Affinity Pubmed IDs
L-(cis)-diltiazem Pore Blocker Antagonist 4
cGMP Activator Activation
cAMP Activator None

(1) Novoseek inferred chemical compound relationships for CNGA3 Gene

Compound -log(P) Hits PubMed IDs
cgmp 52.8 3
genes like me logo Genes that share compounds with CNGA3: view

Transcripts for CNGA3 Gene

mRNA/cDNA for CNGA3 Gene

(4) REFSEQ mRNAs :
(9) Additional mRNA sequences :
(9) Selected AceView cDNA sequences:
(5) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CNGA3 Gene

Cyclic nucleotide gated channel alpha 3:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CNGA3 Gene

No ASD Table

Relevant External Links for CNGA3 Gene

GeneLoc Exon Structure for
CNGA3
ECgene alternative splicing isoforms for
CNGA3

Expression for CNGA3 Gene

mRNA expression in normal human tissues for CNGA3 Gene

mRNA differential expression in normal tissues according to GTEx for CNGA3 Gene

This gene is overexpressed in Pituitary (19.6), Brain - Hypothalamus (5.7), and Colon - Sigmoid (5.4).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for CNGA3 Gene

SOURCE GeneReport for Unigene cluster for CNGA3 Gene Hs.234785

mRNA Expression by UniProt/SwissProt for CNGA3 Gene

Q16281-CNGA3_HUMAN
Tissue specificity: Prominently expressed in retina
genes like me logo Genes that share expressions with CNGA3: view

Orthologs for CNGA3 Gene

This gene was present in the common ancestor of animals.

Orthologs for CNGA3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CNGA3 36
  • 99.23 (n)
  • 99.42 (a)
CNGA3 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CNGA3 36
  • 86.29 (n)
  • 85.21 (a)
CNGA3 37
  • 83 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CNGA3 36
  • 86.07 (n)
  • 84.91 (a)
mouse
(Mus musculus)
Mammalia Cnga3 36
  • 83.26 (n)
  • 82.61 (a)
Cnga3 16
Cnga3 37
  • 83 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CNGA3 37
  • 80 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cnga3 36
  • 83.89 (n)
  • 84.95 (a)
chicken
(Gallus gallus)
Aves CNGA3 36
  • 71.56 (n)
  • 77.24 (a)
CNGA3 37
  • 77 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CNGA3 37
  • 72 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.31126 36
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100494840 36
  • 67.54 (n)
  • 75.04 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.151 36
zebrafish
(Danio rerio)
Actinopterygii cnga3a 36
  • 67.13 (n)
  • 69.79 (a)
cnga3a 37
  • 62 (a)
OneToMany
cnga3b 37
  • 60 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009050 36
  • 60.03 (n)
  • 60.36 (a)
fruit fly
(Drosophila melanogaster)
Insecta Cng 36
  • 60.12 (n)
  • 58.94 (a)
Cng 37
  • 39 (a)
OneToMany
Cng 38
  • 56 (a)
CG3536 38
  • 63 (a)
cngl 38
  • 45 (a)
worm
(Caenorhabditis elegans)
Secernentea che-6 37
  • 27 (a)
ManyToMany
cng-1 37
  • 33 (a)
ManyToMany
cng-2 37
  • 23 (a)
ManyToMany
cng-3 37
  • 23 (a)
ManyToMany
tax-4 36
  • 54.19 (n)
  • 55.45 (a)
tax-4 37
  • 41 (a)
ManyToMany
wrt-3 38
  • 28 (a)
Y76B12C.1 38
  • 29 (a)
F14H8.6 38
  • 35 (a)
tax-4 38
  • 49 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 57 (a)
OneToMany
Species with no ortholog for CNGA3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CNGA3 Gene

ENSEMBL:
Gene Tree for CNGA3 (if available)
TreeFam:
Gene Tree for CNGA3 (if available)

Paralogs for CNGA3 Gene

Selected SIMAP similar genes for CNGA3 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with CNGA3: view

Variants for CNGA3 Gene

Sequence variations from dbSNP and Humsavar for CNGA3 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs867588 -- 98,358,114(-) GATAA(C/T)GAAAC intron-variant
rs937725 -- 98,377,951(+) ATCAG(C/T)GAGTA intron-variant
rs937727 -- 98,357,475(+) CCATC(A/G)TGCCT intron-variant
rs937728 -- 98,357,662(+) TGGCA(A/G)GGGGA intron-variant
rs937729 -- 98,357,926(+) CATAA(G/T)GTGGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CNGA3 Gene

Variant ID Type Subtype PubMed ID
nsv518056 CNV Gain 19592680

Relevant External Links for CNGA3 Gene

HapMap Linkage Disequilibrium report
CNGA3
Human Gene Mutation Database (HGMD)
CNGA3
Locus Specific Mutation Databases (LSDB)
CNGA3

Disorders for CNGA3 Gene

(1) OMIM Diseases for CNGA3 Gene (600053)

UniProtKB/Swiss-Prot

CNGA3_HUMAN
  • Achromatopsia 2 (ACHM2) [MIM:216900]: An 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:18521937, ECO:0000269 PubMed:24903488, ECO:0000269 PubMed:9662398}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=Defects in CNGA3 may be a cause of Leber congenital amaurosis (LCA), a severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus.

(5) Novoseek inferred disease relationships for CNGA3 Gene

Disease -log(P) Hits PubMed IDs
achromatopsia 98.6 33
progressive cone dystrophy 92.4 4
color blindness 87 2
enhanced s-cone syndrome 84.9 1
retinopathy 48.6 1

Relevant External Links for CNGA3

GeneTests
CNGA3
GeneReviews
CNGA3
Genetic Association Database (GAD)
CNGA3
Human Genome Epidemiology (HuGE) Navigator
CNGA3
genes like me logo Genes that share disorders with CNGA3: view

Publications for CNGA3 Gene

  1. CNGA3 mutations in hereditary cone photoreceptor disorders. (PMID: 11536077) Wissinger B. … Kohl S. (Am. J. Hum. Genet. 2001) 3 4 23
  2. Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel. (PMID: 9662398) Kohl S. … Wissinger B. (Nat. Genet. 1998) 3 4 23
  3. Genetic basis of total colourblindness among the Pingelapese islanders. (PMID: 10888875) Sundin O.H. … Maumenee I.H. (Nat. Genet. 2000) 3 4 23
  4. Achromatopsia caused by novel mutations in both CNGA3 and CNGB3. (PMID: 14757870) Johnson S. … Hunt D.M. (J. Med. Genet. 2004) 3 4 23
  5. Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases. (PMID: 15712225) Nishiguchi K.M. … Dryja T.P. (Hum. Mutat. 2005) 3 4 23

Products for CNGA3 Gene

Sources for CNGA3 Gene

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