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Aliases for CNGA1 Gene

Aliases for CNGA1 Gene

  • Cyclic Nucleotide Gated Channel Alpha 1 2 3 5
  • Rod Photoreceptor CGMP-Gated Channel Subunit Alpha 3 4
  • Cyclic Nucleotide-Gated Channel, Photoreceptor 3 4
  • Cyclic Nucleotide-Gated Cation Channel 1 3 4
  • CNG Channel Alpha-1 3 4
  • CNCG1 3 4
  • CNG-1 3 4
  • CNCG 3 4
  • CNG1 3 4
  • Cyclic Nucleotide-Gated Channel Alpha-1 4
  • CGMP-Gated Cation Channel Alpha-1 3
  • Interleukin-1 Homologue 3
  • RCNCalpha 3
  • RCNC1 3
  • RCNCa 3
  • RP49 3

External Ids for CNGA1 Gene

Previous HGNC Symbols for CNGA1 Gene

  • CNCG1
  • CNCG

Previous GeneCards Identifiers for CNGA1 Gene

  • GC04M048014
  • GC04M048247
  • GC04M047787
  • GC04M047778
  • GC04M047632
  • GC04M047257

Summaries for CNGA1 Gene

Entrez Gene Summary for CNGA1 Gene

  • The protein encoded by this gene is involved in phototransduction. Along with another protein, the encoded protein forms a cGMP-gated cation channel in the plasma membrane, allowing depolarization of rod photoreceptors. This represents the last step in the phototransduction pathway. Defects in this gene are a cause of retinitis pigmentosa autosomal recessive (ARRP) disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]

GeneCards Summary for CNGA1 Gene

CNGA1 (Cyclic Nucleotide Gated Channel Alpha 1) is a Protein Coding gene. Diseases associated with CNGA1 include Retinitis Pigmentosa 49 and Retinitis Pigmentosa. Among its related pathways are Phototransduction and Nanog in Mammalian ESC Pluripotency. GO annotations related to this gene include ion channel activity and cGMP binding. An important paralog of this gene is CNGA3.

UniProtKB/Swiss-Prot for CNGA1 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 rod photoreceptors.

Gene Wiki entry for CNGA1 Gene

Additional gene information for CNGA1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CNGA1 Gene

Genomics for CNGA1 Gene

Regulatory Elements for CNGA1 Gene

Enhancers for CNGA1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04H048014 1.5 Ensembl ENCODE dbSUPER 45.2 -2.5 -2478 8.7 FOXA2 ATF1 SIN3A DMAP1 YY1 GLIS2 FOS ATF7 ZNF202 SP3 CNGA1 NFXL1 NIPAL1 RNU6-838P GC04P048104
GH04H048036 1 Ensembl ENCODE 45.3 -20.2 -20230 1.3 HDGF PKNOX1 BATF EED ZNF207 ATF7 ETV6 RUNX3 IKZF2 CREM CNGA1 NIPAL1 RNU6-838P GC04P048104
GH04H048046 1.1 Ensembl ENCODE 30.3 -30.9 -30928 2.1 PKNOX1 FOXA2 TBL1XR1 BMI1 BATF YY1 ZNF207 ATF7 ETV6 RUNX3 CNGA1 NIPAL1 RNU6-838P NFXL1 ENSG00000259959 GC04P048104
GH04H048042 0.9 ENCODE 30.9 -26.6 -26614 1.1 ELF3 FOXA2 ATF1 TBL1XR1 BATF RARA YY1 ATF7 CREM IKZF2 CNGA1 NIPAL1 RNU6-838P GC04P048104
GH04H047926 1 Ensembl ENCODE 26.4 +89.8 89842 1.1 BCOR CTCF FOXA2 RB1 RAD21 CTBP1 FOXK2 SCRT2 SMC3 ZNF143 CNGA1 NFXL1 SLAIN2 PIR42399
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CNGA1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for CNGA1 Gene

Genomic Locations for CNGA1 Gene
81,665 bases
Minus strand

Genomic View for CNGA1 Gene

Genes around CNGA1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CNGA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CNGA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CNGA1 Gene

Proteins for CNGA1 Gene

  • Protein details for CNGA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    cGMP-gated cation channel alpha-1
    Protein Accession:
    Secondary Accessions:
    • A8K7K6
    • J3KPZ2
    • Q16279
    • Q16485
    • Q4W5E3

    Protein attributes for CNGA1 Gene

    690 amino acids
    Molecular mass:
    79586 Da
    Quaternary structure:
    • Tetramer formed of three CNGA1 and one CNGB1 modulatory subunits.
    • Sequence=AAB22778.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for CNGA1 Gene


neXtProt entry for CNGA1 Gene

Post-translational modifications for CNGA1 Gene

  • Glycosylation at Asn425
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CNGA1 Gene

Domains & Families for CNGA1 Gene

Gene Families for CNGA1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters
  • Voltage-gated ion channels

Suggested Antigen Peptide Sequences for CNGA1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • The C-terminal coiled-coil domain mediates homotrimerization of CNGA subunits.
  • Belongs to the cyclic nucleotide-gated cation channel (TC 1.A.1.5) family. CNGA1 subfamily.
  • The C-terminal coiled-coil domain mediates homotrimerization of CNGA subunits.
  • Belongs to the cyclic nucleotide-gated cation channel (TC 1.A.1.5) family. CNGA1 subfamily.
genes like me logo Genes that share domains with CNGA1: view

Function for CNGA1 Gene

Molecular function for CNGA1 Gene

GENATLAS Biochemistry:
cyclic guanine nucleotide gated channel (cGMP),rod photoreceptor,expressed in the rod outer segment alpha 1 subunit,heterodimerizing with CNGB4
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 rod photoreceptors.

Gene Ontology (GO) - Molecular Function for CNGA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005216 ion channel activity IEA --
GO:0005221 intracellular cyclic nucleotide activated cation channel activity IEA --
GO:0005249 voltage-gated potassium channel activity IBA --
GO:0005515 protein binding IPI 20890309
GO:0030553 cGMP binding IEA --
genes like me logo Genes that share ontologies with CNGA1: view
genes like me logo Genes that share phenotypes with CNGA1: view

Human Phenotype Ontology for CNGA1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for CNGA1 Gene

Localization for CNGA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CNGA1 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CNGA1 gene
Compartment Confidence
plasma membrane 5
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CNGA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001750 photoreceptor outer segment IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 7479749
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with CNGA1: view

Pathways & Interactions for CNGA1 Gene

genes like me logo Genes that share pathways with CNGA1: view

Gene Ontology (GO) - Biological Process for CNGA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport TAS 7479749
GO:0006811 ion transport IEA --
GO:0007601 visual perception TAS,IEA --
GO:0016056 rhodopsin mediated signaling pathway TAS --
GO:0022400 regulation of rhodopsin mediated signaling pathway TAS --
genes like me logo Genes that share ontologies with CNGA1: view

No data available for SIGNOR curated interactions for CNGA1 Gene

Drugs & Compounds for CNGA1 Gene

(4) Drugs for CNGA1 Gene - From: DrugBank, DGIdb, IUPHAR, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Dequalinium Approved Pharma Target, blocker 2
Cyclic GMP Experimental Pharma 0
cgmp Pharma Activator 0
L-(cis)-diltiazem Pharma Antagonist, Pore Blocker 0
genes like me logo Genes that share compounds with CNGA1: view

Transcripts for CNGA1 Gene

Unigene Clusters for CNGA1 Gene

Cyclic nucleotide gated channel alpha 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for CNGA1 Gene

No ASD Table

Relevant External Links for CNGA1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CNGA1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CNGA1 Gene

mRNA differential expression in normal tissues according to GTEx for CNGA1 Gene

This gene is overexpressed in Liver (x8.0) and Esophagus - Mucosa (x4.1).

Protein differential expression in normal tissues from HIPED for CNGA1 Gene

This gene is overexpressed in Retina (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CNGA1 Gene

Protein tissue co-expression partners for CNGA1 Gene

NURSA nuclear receptor signaling pathways regulating expression of CNGA1 Gene:


SOURCE GeneReport for Unigene cluster for CNGA1 Gene:


mRNA Expression by UniProt/SwissProt for CNGA1 Gene:

Tissue specificity: Rod cells in the retina.

Evidence on tissue expression from TISSUES for CNGA1 Gene

  • Eye(4.4)
  • Spleen(4)
  • Lung(3.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CNGA1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • middle ear
  • nose
  • outer ear
  • skull
  • penis
  • testicle
  • blood
  • blood vessel
  • peripheral nervous system
  • red blood cell
  • skin
genes like me logo Genes that share expression patterns with CNGA1: view

Primer Products

Orthologs for CNGA1 Gene

This gene was present in the common ancestor of animals.

Orthologs for CNGA1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia CNGA1 33 34
  • 99.43 (n)
(Canis familiaris)
Mammalia CNGA1 33 34
  • 89.34 (n)
(Bos Taurus)
Mammalia CNGA1 33 34
  • 88.29 (n)
(Mus musculus)
Mammalia Cnga1 33 16 34
  • 85.88 (n)
(Rattus norvegicus)
Mammalia Cnga1 33
  • 85.49 (n)
(Ornithorhynchus anatinus)
Mammalia CNGA1 34
  • 83 (a)
(Monodelphis domestica)
Mammalia CNGA1 34
  • 80 (a)
(Gallus gallus)
Aves CNGA1 33 34
  • 76.08 (n)
(Anolis carolinensis)
Reptilia CNGA1 34
  • 77 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia cnga1 33
  • 72.22 (n)
(Danio rerio)
Actinopterygii cnga1 33 34
  • 68.66 (n)
CNGA1 (2 of 2) 34
  • 60 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG3536 35
  • 59 (a)
Cng 35 34
  • 53 (a)
cngl 35
  • 43 (a)
(Caenorhabditis elegans)
Secernentea tax-4 35 34
  • 51 (a)
F14H8.6 35
  • 34 (a)
cng-1 34
  • 31 (a)
C23H5.7 35
  • 30 (a)
Y76B12C.1 35
  • 29 (a)
che-6 34
  • 27 (a)
wrt-3 35
  • 24 (a)
cng-3 34
  • 23 (a)
cng-2 34
  • 22 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 58 (a)
Species where no ortholog for CNGA1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • 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 CNGA1 Gene

Gene Tree for CNGA1 (if available)
Gene Tree for CNGA1 (if available)

Paralogs for CNGA1 Gene

Paralogs for CNGA1 Gene

(4) SIMAP similar genes for CNGA1 Gene using alignment to 3 proteins: Pseudogenes for CNGA1 Gene

genes like me logo Genes that share paralogs with CNGA1: view

Variants for CNGA1 Gene

Sequence variations from dbSNP and Humsavar for CNGA1 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs62625014 Pathogenic, Retinitis pigmentosa 49 (RP49) [MIM:613756] 47,937,535(+) AAATA(A/C/G)AGTAG intron-variant, reference, missense
rs121909599 Pathogenic 47,949,894(-) CCAGG(A/G/T)AGCAG intron-variant, reference, missense, stop-gained
rs121909600 Pathogenic 47,943,203(-) AGGAG(A/T)AAAGC intron-variant, reference, stop-gained
rs759781200 Pathogenic 47,940,775(+) TGTTC(A/G)TACAA intron-variant, reference, stop-gained
rs199584830 Likely pathogenic 47,936,954(+) CTCTC(A/G)TCCGA intron-variant, reference, stop-gained

Structural Variations from Database of Genomic Variants (DGV) for CNGA1 Gene

Variant ID Type Subtype PubMed ID
nsv509895 OTHER sequence alteration 20534489
nsv478149 CNV novel sequence insertion 20440878
nsv290106 CNV deletion 16902084
esv3600457 CNV loss 21293372
esv3600456 CNV gain 21293372
esv2727536 CNV deletion 23290073
esv2727535 CNV deletion 23290073
esv2727534 CNV deletion 23290073
esv2663876 CNV deletion 23128226
esv2498611 CNV deletion 19546169
esv2174980 CNV deletion 18987734

Variation tolerance for CNGA1 Gene

Residual Variation Intolerance Score: 31.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.47; 82.08% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CNGA1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CNGA1 Gene

Disorders for CNGA1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for CNGA1 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
retinitis pigmentosa 49
  • rp49
retinitis pigmentosa
  • retinitis pigmentosa 1
cnga1-related retinitis pigmentosa
rhyns syndrome
  • retinitis pigmentosa syndrome
retinitis pigmentosa 19
  • rp19
- elite association - COSMIC cancer census association via MalaCards
Search CNGA1 in MalaCards View complete list of genes associated with diseases


  • Retinitis pigmentosa 49 (RP49) [MIM:613756]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269 PubMed:15570217, ECO:0000269 PubMed:7479749}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CNGA1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with CNGA1: view

No data available for Genatlas for CNGA1 Gene

Publications for CNGA1 Gene

  1. Human rod photoreceptor cGMP-gated channel: amino acid sequence, gene structure, and functional expression. (PMID: 1379636) Dhallan RS … Nathans J (The Journal of neuroscience : the official journal of the Society for Neuroscience 1992) 3 4 22 60
  2. Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip. (PMID: 20801516) Booij JC … Florijn RJ (Ophthalmology 2011) 3 45 60
  3. International Union of Pharmacology. LI. Nomenclature and structure-function relationships of cyclic nucleotide-regulated channels. (PMID: 16382102) Hofmann F … Kaupp UB (Pharmacological reviews 2005) 2 3 60
  4. Autosomal recessive retinitis pigmentosa in a Pakistani family mapped to CNGA1 with identification of a novel mutation. (PMID: 15570217) Zhang Q … Hejtmancik JF (Molecular vision 2004) 3 4 60
  5. Novel homozygous mutation in the alpha subunit of the rod cGMP gated channel (CNGA1) in two Spanish sibs affected with autosomal recessive retinitis pigmentosa. (PMID: 12362048) Paloma E … Balcells S (Journal of medical genetics 2002) 3 22 60

Products for CNGA1 Gene

Sources for CNGA1 Gene

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