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Aliases for CNGA3 Gene

Aliases for CNGA3 Gene

  • Cyclic Nucleotide Gated Channel Alpha 3 2 3 5
  • Cone Photoreceptor CGMP-Gated Channel Subunit Alpha 3 4
  • CNG Channel Alpha-3 3 4
  • CNCG3 3 4
  • CNG-3 3 4
  • CNG3 3 4
  • Cone Photoreceptor CGMP-Gated Channel Alpha Subunit 3
  • Cyclic Nucleotide-Gated Cation Channel Alpha-3 3
  • Cyclic Nucleotide-Gated Channel Alpha-3 4
  • CCNCalpha 3
  • CCNC1 3
  • CCNCa 3
  • ACHM2 3

External Ids for CNGA3 Gene

Previous HGNC Symbols for CNGA3 Gene

  • CNCG3
  • ACHM2

Previous GeneCards Identifiers for CNGA3 Gene

  • GC02P096868
  • GC02P097438
  • GC02P098590
  • GC02P098607
  • GC02P098444
  • GC02P098962
  • GC02P092727

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 Achromatopsia. Among its related pathways are Phototransduction and Sweet Taste Signaling. GO annotations related to this gene include protein C-terminus binding and voltage-gated potassium channel activity. An important paralog of this gene is CNGA2.

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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CNGA3 Gene

Genomics for CNGA3 Gene

Regulatory Elements for CNGA3 Gene

Enhancers for CNGA3 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
GH02G098501 1.9 FANTOM5 Ensembl ENCODE dbSUPER 9.9 +159.6 159565 8.6 PKNOX1 ATF1 ARNT YY1 TCF12 ZNF766 GATA2 NCOA1 ZNF592 MEF2D INPP4A CNGA3 ENSG00000227987 MGAT4A LYG1 UNC50 PIR35284 PIR47012
GH02G098556 1 FANTOM5 ENCODE 9.8 +210.6 210589 1.3 PKNOX1 STAT1 MTA2 ZBED1 NR2F1 DPF2 TBX21 IKZF1 EED CREM INPP4A UNC50 COA5 ENSG00000227987 CNGA3 PIR35284
GH02G098279 0.7 ENCODE 10.8 -65.6 -65604 1.2 MXI1 PKNOX1 WRNIP1 EBF1 POLR2A RELB IKZF2 MTA2 NR2F1 DPF2 LOC105373502 CNGA3 ENSG00000227987 VWA3B LINC01125 GC02P098257
GH02G098171 0.6 dbSUPER 6.7 -174.0 -173973 1.7 POLR2A MAFG NFE2 ATF2 ZNF623 RAD21 NFE2L2 EGR2 LOC105373502 CNGA3 ATP5BP1 VWA3B
GH02G098671 0.5 FANTOM5 dbSUPER 5.7 +324.9 324855 0.0 RNU7-46P RNU4-84P KIAA1211L CNGA3 YWHAQP5 PIR38295
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CNGA3 on UCSC Golden Path with GeneCards custom track

Genomic Location for CNGA3 Gene

Chromosome:
2
Start:
98,346,155 bp from pter
End:
98,399,154 bp from pter
Size:
53,000 bases
Orientation:
Plus strand

Genomic View for CNGA3 Gene

Genes around CNGA3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CNGA3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CNGA3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

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 & Families for CNGA3 Gene

Gene Families for CNGA3 Gene

Suggested Antigen Peptide Sequences for CNGA3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q16281

UniProtKB/Swiss-Prot:

CNGA3_HUMAN :
  • 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. CNGA3 subfamily.
Domain:
  • The C-terminal coiled-coil domain mediates homotrimerization of CNGA subunits.
Family:
  • Belongs to the cyclic nucleotide-gated cation channel (TC 1.A.1.5) family. CNGA3 subfamily.
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 IEA --
GO:0005223 intracellular cGMP activated cation channel activity IMP 24164424
GO:0005249 voltage-gated potassium channel activity IBA --
GO:0008022 protein C-terminus binding IEA --
GO:0015276 ligand-gated ion channel activity TAS 9517456
genes like me logo Genes that share ontologies with CNGA3: view
genes like me logo Genes that share phenotypes with CNGA3: view

Human Phenotype Ontology for CNGA3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CNGA3 Gene

MGI Knock Outs for CNGA3:

Animal Model Products

CRISPR Products

miRNA for CNGA3 Gene

miRTarBase miRNAs that target CNGA3

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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
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 CNGA3 gene
Compartment Confidence
plasma membrane 5
cytosol 2
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for CNGA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005887 integral component of plasma membrane IBA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0030425 dendrite IEA --
genes like me logo Genes that share ontologies with CNGA3: view

Pathways & Interactions for CNGA3 Gene

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

Pathways by source 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 IEA --
GO:0006812 cation transport IMP 24164424
GO:0007165 signal transduction TAS 9517456
GO:0007601 visual perception IEA,TAS --
genes like me logo Genes that share ontologies with CNGA3: view

No data available for SIGNOR curated interactions for CNGA3 Gene

Drugs & Compounds for CNGA3 Gene

(7) Drugs for CNGA3 Gene - From: DGIdb, IUPHAR, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
cyclic amp Experimental Pharma 0
Cyclic GMP Experimental Pharma 0
Guanosine monophosphate Experimental Pharma 0
cgmp Pharma Activator 0
cAMP Pharma Agonist, Activator 0
genes like me logo Genes that share compounds with CNGA3: view

Transcripts for CNGA3 Gene

mRNA/cDNA for CNGA3 Gene

Unigene Clusters for CNGA3 Gene

Cyclic nucleotide gated channel alpha 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for CNGA3 Gene

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

This gene is overexpressed in Pituitary (x19.6), Brain - Hypothalamus (x5.7), and Colon - Sigmoid (x5.4).

Protein differential expression in normal tissues from HIPED for CNGA3 Gene

This gene is overexpressed in Monocytes (30.5), Cerebrospinal fluid (24.0), and Urine (9.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CNGA3 Gene



NURSA nuclear receptor signaling pathways regulating expression of CNGA3 Gene:

CNGA3

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.

Evidence on tissue expression from TISSUES for CNGA3 Gene

  • Eye(2.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CNGA3 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • head
  • lacrimal apparatus
  • pituitary gland
Thorax:
  • breast
Pelvis:
  • ovary
  • penis
  • prostate
  • testicle
  • uterus
  • vagina
  • vulva
General:
  • blood
  • blood vessel
  • hair
  • peripheral nervous system
  • skin
genes like me logo Genes that share expression patterns with CNGA3: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Protein tissue co-expression partners for CNGA3 Gene

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 35 34
  • 99.23 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CNGA3 34 35
  • 86.29 (n)
dog
(Canis familiaris)
Mammalia CNGA3 34
  • 86.07 (n)
rat
(Rattus norvegicus)
Mammalia Cnga3 34
  • 83.89 (n)
mouse
(Mus musculus)
Mammalia Cnga3 34 16 35
  • 83.26 (n)
oppossum
(Monodelphis domestica)
Mammalia CNGA3 35
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves CNGA3 35 34
  • 71.56 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CNGA3 35
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100494840 34
  • 67.54 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.31126 34
zebrafish
(Danio rerio)
Actinopterygii cnga3a 34 35
  • 67.13 (n)
cnga3b 35
  • 60 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.151 34
fruit fly
(Drosophila melanogaster)
Insecta CG3536 36
  • 63 (a)
Cng 36 34 35
  • 60.12 (n)
cngl 36
  • 45 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009050 34
  • 60.03 (n)
worm
(Caenorhabditis elegans)
Secernentea tax-4 36 34 35
  • 54.19 (n)
F14H8.6 36
  • 35 (a)
cng-1 35
  • 33 (a)
ManyToMany
Y76B12C.1 36
  • 29 (a)
wrt-3 36
  • 28 (a)
che-6 35
  • 27 (a)
ManyToMany
cng-2 35
  • 23 (a)
ManyToMany
cng-3 35
  • 23 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 57 (a)
OneToMany
Species where no ortholog for CNGA3 was found in the sources mined by GeneCards:
  • 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

(5) 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
rs104893612 Pathogenic, Achromatopsia 2 (ACHM2) [MIM:216900] 98,389,696(+) GGACC(C/T)GTCCA reference, missense
rs104893613 Pathogenic, Achromatopsia 2 (ACHM2) [MIM:216900] 98,396,017(+) TTTCC(C/T)GGCTC reference, missense
rs104893614 Pathogenic, Achromatopsia 2 (ACHM2) [MIM:216900] 98,396,018(+) TTCCC(A/G)GCTCT reference, missense
rs104893615 Pathogenic, Achromatopsia 2 (ACHM2) [MIM:216900] 98,396,839(+) TCAAG(A/G)GGAGC reference, missense
rs104893616 Pathogenic, Achromatopsia 2 (ACHM2) [MIM:216900] 98,396,042(+) CCGCA(C/G)AGAGA reference, missense

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

Variant ID Type Subtype PubMed ID
nsv1013617 CNV loss 25217958
nsv518056 CNV gain 19592680

Variation tolerance for CNGA3 Gene

Residual Variation Intolerance Score: 84% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.44; 71.44% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CNGA3 Gene

Human Gene Mutation Database (HGMD)
CNGA3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CNGA3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CNGA3 Gene

Disorders for CNGA3 Gene

MalaCards: The human disease database

(18) MalaCards diseases for CNGA3 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
achromatopsia-2
  • achromatopsia 2
achromatopsia
  • achm
retinitis pigmentosa
  • retinitis pigmentosa 1
color blindness
  • blindness color
oligocone trichromacy
  • oligocone syndrome
- elite association - COSMIC cancer census association via MalaCards
Search CNGA3 in MalaCards View complete list of genes associated with diseases

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:15743887, ECO:0000269 PubMed:18521937, ECO:0000269 PubMed:24903488, ECO:0000269 PubMed:26493561, ECO:0000269 PubMed:9662398}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CNGA3

Genetic Association Database (GAD)
CNGA3
Human Genome Epidemiology (HuGE) Navigator
CNGA3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CNGA3
genes like me logo Genes that share disorders with CNGA3: view

No data available for Genatlas for CNGA3 Gene

Publications for CNGA3 Gene

  1. Genetic etiology and clinical consequences of complete and incomplete achromatopsia. (PMID: 19592100) Thiadens A.A. … Klaver C.C. (Ophthalmology 2009) 3 22 46 64
  2. Mutations in CNGA3 impair trafficking or function of cone cyclic nucleotide-gated channels, resulting in achromatopsia. (PMID: 18521937) Reuter P. … Wissinger B. (Hum. Mutat. 2008) 3 4 22 64
  3. 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 22 64
  4. Achromatopsia caused by novel mutations in both CNGA3 and CNGB3. (PMID: 14757870) Johnson S. … Hunt D.M. (J. Med. Genet. 2004) 3 4 22 64
  5. CNGA3 mutations in hereditary cone photoreceptor disorders. (PMID: 11536077) Wissinger B. … Kohl S. (Am. J. Hum. Genet. 2001) 3 4 22 64

Products for CNGA3 Gene

Sources for CNGA3 Gene

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