CNGA3 Gene (Protein Coding)

Cyclic Nucleotide Gated Channel Subunit Alpha 3

GC02P098329
GIFtS:
43
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] See more...

Aliases for CNGA3 Gene

Aliases for CNGA3 Gene

  • Cyclic Nucleotide Gated Channel Subunit Alpha 3 2 3 5
  • CNG3 2 3 4
  • Cone Photoreceptor CGMP-Gated Channel Subunit Alpha 3 4
  • Cyclic Nucleotide-Gated Cation Channel Alpha-3 3 4
  • Cyclic Nucleotide Gated Channel Alpha 3 2 3
  • CNG Channel Alpha-3 3 4
  • CCNC1 2 3
  • CCNCa 2 3
  • CNCG3 3 4
  • CNG-3 3 4
  • Cone Photoreceptor CGMP-Gated Channel Alpha Subunit 3
  • Cyclic Nucleotide-Gated Channel Alpha-3 4
  • CCNCalpha 3
  • ACHM2 3
  • CNGA3 5

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 Subunit Alpha 3) is a Protein Coding gene. Diseases associated with CNGA3 include Achromatopsia 2 and Achromatopsia. Among its related pathways are Sweet Taste Signaling and Activation of cAMP-Dependent PKA. Gene Ontology (GO) annotations related to this gene include protein C-terminus binding and voltage-gated potassium channel activity. An important paralog of this gene is CNGA1.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for CNGA3 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CNGA3 Gene

Genomics for CNGA3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for CNGA3 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH02J098338 Promoter 0.7 Ensembl 600.7 +0.5 520 0.6 REST EZH2 ZNF140 ZBTB20 ZBTB26 MIER1 EHMT2 SIN3A ZNF143 MIER2 CNGA3 ENSG00000227987 UNC50 SMC3P1 ANKRD36B LIPT1 MITD1 ENSG00000222000 INPP4A
GH02J098347 Promoter 0.4 Ensembl 600.7 +1.6 1620 0.4 EZH2 CNGA3 ENSG00000227987 ENSG00000222000 INPP4A
GH02J098498 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 9.9 +162.4 162419 21.6 CTCF RFX1 LEF1 IKZF1 JUND PRDM1 DDX20 ZNF143 MTA2 PKNOX1 INPP4A MITD1 TMEM131 ENSG00000273306 REV1 UNC50 SMC3P1 CNGA3 ENSG00000227987 MGAT4A
GH02J098279 Enhancer 0.9 Ensembl ENCODE CraniofacialAtlas 10.8 -65.8 -65780 1.6 IKZF2 RCOR1 DPF2 RELB GATAD2B ARNT NBN IKZF1 NR2F1 TBX21 ENSG00000222000 CNGA3 ENSG00000227987 VWA3B C2orf92 piR-31199-170 ATP5F1BP1
GH02J098376 Enhancer 0.3 Ensembl 29.2 +30.3 30320 0.6 SMARCA4 EZH2 CNGA3 ENSG00000222000 ENSG00000227987 VWA3B piR-32810-054 piR-32559-221 INPP4A
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CNGA3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CNGA3

Top Transcription factor binding sites by QIAGEN in the CNGA3 gene promoter:
  • AP-4
  • HOXA3
  • HSF2
  • Meis-1a
  • NF-kappaB
  • NF-kappaB1
  • Olf-1
  • Pbx1a
  • RelA
  • YY1

Genomic Locations for CNGA3 Gene

Genomic Locations for CNGA3 Gene
chr2:98,346,181-98,399,154
(GRCh38/hg38)
Size:
52,974 bases
Orientation:
Plus strand
chr2:98,962,618-99,015,064
(GRCh37/hg19)
Size:
52,447 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 Structure • Gene Density

RefSeq DNA sequence for CNGA3 Gene

Proteins for CNGA3 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Protein Expression for CNGA3 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for CNGA3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CNGA3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CNGA3 Gene

Domains & Families for CNGA3 Gene

Gene Families for CNGA3 Gene

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

Protein Domains for CNGA3 Gene

InterPro:
Blocks:
  • Cyclic nucleotide-binding domain
ProtoNet:

Suggested Antigen Peptide Sequences for CNGA3 Gene

GenScript: Design optimal peptide antigens:
  • Cyclic nucleotide-gated channel alpha-3 (CNGA3_HUMAN)

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

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  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for CNGA3 Gene

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.
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

Gene Ontology (GO) - Molecular Function for CNGA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0005216 ion channel activity IEA --
GO:0005222 intracellular cAMP-activated cation channel activity IBA 21873635
GO:0005223 intracellular cGMP-activated cation channel activity IEA,IMP 24164424
GO:0008022 protein C-terminus binding IEA --
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:
  • Cnga3 Cnga3<tm1Biel>
  • Cnga3 Cnga3<tm1.1(KOMP)Vlcg>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CNGA3

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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 4
cytosol 2
extracellular 1
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for CNGA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane IEA --
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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CNGA3 Gene

Pathways & Interactions for CNGA3 Gene

PathCards logo

SuperPathways for CNGA3 Gene

SuperPathway Contained pathways
1 Activation of cAMP-Dependent PKA
Activation of cAMP-Dependent PKA
.77
cAMP Pathway
.77
PKA Signaling
.56
2 Sweet Taste Signaling
Cellular Effects of Sildenafil
.46
Sperm Motility
.37
3 cAMP signaling pathway
cAMP signaling pathway
-
4 Olfactory transduction
Olfactory transduction
.84
5 Neuropathic Pain-Signaling in Dorsal Horn Neurons
Cholera Infection
.40
genes like me logo Genes that share pathways with CNGA3: view

Pathways by source for CNGA3 Gene

1 BioSystems pathway for CNGA3 Gene
2 KEGG pathways for CNGA3 Gene
9 Qiagen pathways for CNGA3 Gene
  • Activation of cAMP-Dependent PKA
  • cAMP Pathway
  • Cellular Effects of Sildenafil
  • Cholera Infection
  • eNOS Signaling

Interacting Proteins for CNGA3 Gene

Selected Interacting proteins: Q16281-CNGA3_HUMAN for CNGA3 Gene via UniProtKB IID

GPS-Prot Interaction Network for CNGA3

Gene Ontology (GO) - Biological Process for CNGA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006812 cation transport IMP 24164424
GO:0007165 signal transduction TAS 9517456
GO:0007601 visual perception TAS,IEA --
GO:0031960 response to corticosteroid IEA --
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

Products:

  1. Drug

(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, Agonist, Activation, Inhibitor, Inhibition 0
cAMP Pharma Activator, Agonist 0
genes like me logo Genes that share compounds with CNGA3: view

Transcripts for CNGA3 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for CNGA3 Gene

2 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CNGA3

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

No ASD Table

Relevant External Links for CNGA3 Gene

GeneLoc Exon Structure for
CNGA3

Expression for CNGA3 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CNGA3 Gene

mRNA expression in normal human tissues for CNGA3 Gene
mRNA expression by GTEx for CNGA3 GenemRNA expression by BioGPS 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



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(2.9)
  • Nervous system(2.4)
  • Lung(2)

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
Regions:
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

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 30 31
  • 99.23 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia CNGA3 30 31
  • 86.29 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia CNGA3 30
  • 86.07 (n)
Rat
(Rattus norvegicus)
 Mammalia Cnga3 30
  • 83.89 (n)
Mouse
(Mus musculus)
 Mammalia Cnga3 30 17 31
  • 83.26 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia CNGA3 31
  • 80 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves CNGA3 30 31
  • 71.56 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia CNGA3 31
  • 72 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia LOC100494840 30
  • 67.54 (n)
African clawed frog
(Xenopus laevis)
 Amphibia Xl.31126 30
Zebrafish
(Danio rerio)
 Actinopterygii cnga3a 30 31
  • 67.13 (n)
 OneToMany
cnga3b 31
  • 60 (a)
 OneToMany
Rainbow Trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.151 30
Fruit Fly
(Drosophila melanogaster)
 Insecta CG3536 32
  • 63 (a)
Cng 30 31 32
  • 60.12 (n)
 OneToMany
cngl 32
  • 45 (a)
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP009050 30
  • 60.03 (n)
Worm
(Caenorhabditis elegans)
 Secernentea tax-4 30 31 32
  • 54.19 (n)
 ManyToMany
F14H8.6 32
  • 35 (a)
cng-1 31
  • 33 (a)
 ManyToMany
Y76B12C.1 32
  • 29 (a)
wrt-3 32
  • 28 (a)
che-6 31
  • 27 (a)
 ManyToMany
cng-3 31
  • 23 (a)
 ManyToMany
cng-2 31
  • 23 (a)
 ManyToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 57 (a)
 OneToMany
Species where no ortholog for CNGA3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for CNGA3: view image

Paralogs for CNGA3 Gene

Paralogs for CNGA3 Gene

(5) SIMAP similar genes for CNGA3 Gene using alignment to 3 proteins:

  • CNGA3_HUMAN
  • E9PF93_HUMAN
  • L8E7M2_HUMAN
genes like me logo Genes that share paralogs with CNGA3: view

Variants for CNGA3 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CNGA3 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
635158 Pathogenic: Retinal dystrophy; Achromatopsia 98,396,101(+) CTCA/C INFRAME_DELETION
689726 Pathogenic/Likely Pathogenic: Retinal dystrophy; Achromatopsia 2 98,395,948(+) G/A MISSENSE_VARIANT
711262 Conflicting Interpretations: Achromatopsia 2; not provided 98,397,033(+) G/A SYNONYMOUS_VARIANT
711330 Benign: not provided 98,370,056(+) C/T SYNONYMOUS_VARIANT
712356 Benign: not provided 98,380,312(+) A/G MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for CNGA3 Gene

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)

Additional Variant Information for CNGA3 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for CNGA3 Gene

MalaCards: The human disease database

(38) MalaCards diseases for CNGA3 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
achromatopsia 2
  • achm2
achromatopsia
  • achromatopsia 2
color vision deficiency
  • color blindness
eye disease
  • abnormality of the eye
ifap syndrome with or without bresheck syndrome
  • ichthyosis follicularis, atrichia, and photophobia with or without brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, hirschsprung disease, ear/eye anomalies, cleft palate/cryptorchidism, and kidney dysplasia/hypoplasia
- 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 autosomal recessive, 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.

Additional Disease Information for CNGA3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 AA … Klaver CC (Ophthalmology 2009) 3 23 41
  2. Mutations in CNGA3 impair trafficking or function of cone cyclic nucleotide-gated channels, resulting in achromatopsia. (PMID: 18521937) Reuter P … Achromatopsia Clinical Study Group (Human mutation 2008) 3 4 23
  3. Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases. (PMID: 15712225) Nishiguchi KM … Dryja TP (Human mutation 2005) 3 4 23
  4. Achromatopsia caused by novel mutations in both CNGA3 and CNGB3. (PMID: 14757870) Johnson S … Hunt DM (Journal of medical genetics 2004) 3 4 23
  5. CNGA3 mutations in hereditary cone photoreceptor disorders. (PMID: 11536077) Wissinger B … Kohl S (American journal of human genetics 2001) 3 4 23

ExternalLinks

View latest publications for CNGA3 gene in Mastermind

Products for CNGA3 Gene

  • Signalway Proteins for CNGA3

Sources for CNGA3 Gene