CNGA3 Gene
protein-coding GIFtS: 60
GCID: GC02P098962
|
|
cyclic nucleotide gated channel alpha 3 (Previous symbols: CNCG3, ACHM2)
| |
Aliases for CNGA3 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb) About This Section
|
| Aliases |
|---|
| Cyclic Nucleotide Gated Channel Alpha 31 2 | | Cyclic Nucleotide-Gated Channel Alpha-32 3 | | CNG31 2 3 5 | | CNG-32 3 | | CNCG31 2 3 | | CNG Channel Alpha-32 3 | | ACHM21 2 5 | | CCNCalpha2 | | CCNC11 2 | | Cone Photoreceptor CGMP-Gated Channel Alpha Subunit2 | | CCNCa1 2 | | Cyclic Nucleotide-Gated Cation Channel Alpha-32 | | Cone Photoreceptor CGMP-Gated Channel Subunit Alpha2 3 | | |
Export aliases for CNGA3 gene to outside databasesPrevious GC identifers: GC02P096868 GC02P097438 GC02P098590 GC02P098607 GC02P098444 GC02P098329 GC02P092727 |
Summaries for CNGA3 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| Entrez Gene summary for CNGA3: This gene encodes a member of the cyclic nucleotide-gated cation channel protein family which is required for normalvision 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. (providedby RefSeq, Jul 2008) UniProtKB/Swiss-Prot: CNGA3_HUMAN, Q16281Function: Visual signal transduction is mediated by a G-protein coupled cascade using cGMP as second messenger. Thisprotein can be activated by cyclic GMP which leads to an opening of the cation channel and thereby causing adepolarization of cone photoreceptors. Induced a flickering channel gating, weakened the outward rectification in thepresence of extracellular calcium, increased sensitivity for L-cis diltiazem and enhanced the cAMP efficacy of thechannel when coexpressed with CNGB3 (By similarity). Essential for the generation of light-evoked electrical responsesin the red-, green- and blue sensitive cones Gene Wiki entry for CNGA3 (Cyclic nucleotide-gated channel alpha 3)
|
Genomic Views for CNGA3 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics) About This Section
| RefSeq DNA sequence:- NC_000002.11 NC_018913.1 NT_022171.15
Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the CNGA3 gene promoter: Pbx1a HOXA3 Olf-1 RelA AP-4 NF-kappaB YY1 HSF2 Meis-1a NF-kappaB1 Other transcription factors
Search SABiosciences Chromatin IP Primers for CNGA3
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CNGA3 |
Genomic Location: Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 2q11.2 Ensembl cytogenetic band: 2q11.2 HGNC cytogenetic band: 2q11.2CNGA3 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)

GeneLoc information about chromosome 2 GeneLoc Exon Structure GeneLoc location for GC02P098962: view genomic region
(about GC identifiers)
Start:
|
98,962,618 bp from pter |
End:
|
99,015,064 bp from pter |
Size:
|
52,447 bases |
Orientation:
|
plus strand |
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Proteins for CNGA3 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
| UniProtKB/Swiss-Prot: CNGA3_HUMAN, Q16281 (See
protein sequence)Recommended Name: Cyclic nucleotide-gated cation channel alpha-3 Size: 694 amino acids; 78838 Da
Subunit: Tetramer formed of two CNGA3 and two CNGB3 modulatory subunits
Subcellular location: Membrane; Multi-pass membrane protein
1 PDB 3D structure from and Proteopedia for CNGA3:3SWY (3D)
 
Secondary accessions: Q4VAP7 Q53RD2 Q9UP64Alternative splicing: 2 isoforms: Q16281-1 Q16281-2 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for CNGA3: NX_Q16281
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q16281 CNGA3 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (2 alternative transcripts):
NP_001073347.1 NP_001289.1 ENSEMBL proteins: ENSP00000410070 ENSP00000272602 ENSP00000386761 ENSP00000377140 Human Recombinant Protein Products:
Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0001750 | photoreceptor outer segment |
IEA | -- | | GO:0005886 | plasma membrane |
IEA | -- | | GO:0016021 | integral to membrane |
IEA | -- |
CNGA3 for ontologies About GeneDecksing
CNGA3 Antibody Products: Assay Products for CNGA3: |
Protein
Domains / Families for CNGA3 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
CNGA3 for domains About GeneDecksing
5 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q16281ProtoNet protein and cluster: Q16281 1 Blocks protein family: IPB000595 Cyclic nucleotide-binding domain
UniProtKB/Swiss-Prot: CNGA3_HUMAN, Q16281Similarity: Belongs to the cyclic nucleotide-gated cation channel (TC 1.A.1.5) family. CNGA3 subfamilySimilarity: Contains 1 cyclic nucleotide-binding domain |
Function for CNGA3 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
| Function Summary: UniProtKB/Swiss-Prot: CNGA3_HUMAN, Q16281Function: Visual signal transduction is mediated by a G-protein coupled cascade using cGMP as second messenger. Thisprotein can be activated by cyclic GMP which leads to an opening of the cation channel and thereby causing adepolarization of cone photoreceptors. Induced a flickering channel gating, weakened the outward rectification in thepresence of extracellular calcium, increased sensitivity for L-cis diltiazem and enhanced the cAMP efficacy of thechannel when coexpressed with CNGB3 (By similarity). Essential for the generation of light-evoked electrical responsesin the red-, green- and blue sensitive cones Genatlas biochemistry entry for CNGA3:cyclic guanine nucleotidealpha 3 subunit gated channel (cGMP),cone photoreceptor,alpha 3subunit,also expressed at lowlevels in bipolar cells,ganglion cells and Muller glial cells,also detected in sperm,kidney,heart,brain
Clone Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CNGA3 (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CNGA3 (see all 3) OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 2): CNGA3 (NM_001079878) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
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In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CNGA3 |
Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view): About this table
CNGA3 for ontologies About GeneDecksing
3 GenomeRNAi human phenotypes for CNGA3: Animal Models: Mouse knock-out Cnga3tm1Biel for CNGA3 4 MGI mutant phenotypes (inferred from 2 alleles ) (MGI details for Cnga3):
CNGA3 for phenotypes About GeneDecksing
|
Pathways & Interactions for CNGA3 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
| Unified GeneCards pathways - 5/9 super-pathways (see all 9) About this table  See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Activation of cAMP-Dependent PKA | | | 2 | Sweet Taste Signaling | | | 3 | Potassium transporters: inward current | | | 4 | Visual Cycle in Retinal Rods | | | 5 | Olfactory transduction | |
Pathway sources See GeneCards unified pathways Show all pathways
1 EMD Millipore Pathway for CNGA3 5/9 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for CNGA3 (see all 9) 1 BioSystems Pathway for CNGA3 
1
Kegg Pathway (Kegg details for CNGA3):
CNGA3 for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CNGA3
STRING Interaction
Network Preview (showing 5 interactants - click image to see 14)
 5/15 Interacting proteins for CNGA3 (Q162813 ENSP000002726024) via UniProtKB, MINT, STRING, and/or I2D (see all 15)About this table
Gene Ontology (GO): 4 biological process terms (GO ID links to tree view): About this table
CNGA3 for ontologies About GeneDecksing
|
Drugs & Compounds for CNGA3 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
CNGA3 for compounds About GeneDecksing
Browse Tocris compounds for CNGA3
4 HMDB Compounds for CNGA3 About this table 1 Novoseek chemical compound relationship for CNGA3 gene About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| cgmp |
52.8 |
4 |
15878705 (2), 9721202 (1) |
Search CenterWatch for drugs/clinical trials and news about CNGA3 
|
Transcripts for CNGA3 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
) About This Section
| REFSEQ mRNAs for CNGA3 gene (2 alternative transcripts): NM_001079878.1 NM_001298.2 Unigene Cluster for CNGA3: Cyclic nucleotide gated channel alpha 3 Hs.234785 [show with all ESTs]Unigene Representative Sequence: NM_0012985 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000436404 ENST00000272602(uc010fij.3) ENST00000409937 ENST00000393503 ENST00000393504(uc002syt.3 uc002syu.3)
Clone Products: |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CNGA3 (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CNGA3 (see all 3) OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 2): CNGA3 (NM_001079878) | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for CNGA3 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CNGA3  |
Additional cDNA sequence: AF065314.1 AK131300.1 AK308149.1 BC096298.1 BC096299.1 BC096300.1 DQ067460.1 DQ426863.1 DQ426864.1 3 DOTS entries: DT.403650 DT.120984934 DT.100657502 9 AceView cDNA sequences: NM_001298 AF065314 AK131300 BX283441 BI438551 BG473313 BI548103 AV750254 W27253 GeneLoc Exon Structure
|
Expression for CNGA3 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| CNGA3 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this imageBioGPS CGAP TAG: TTGCAAATTA
About this image See CNGA3 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for CNGA3
SOURCE GeneReport for Unigene cluster: Hs.234785 UniProtKB/Swiss-Prot: CNGA3_HUMAN, Q16281Tissue specificity: Prominently expressed in retina SABiosciences Expression via Pathway-Focused PCR Array including CNGA3:
Primer Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CNGA3 Browse OriGene validated miRNA SYBR primer pairs
| |  | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat CNGA3 | |  | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CNGA3 | |  | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CNGA3 | In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CNGA3 |
Orthologs for CNGA3 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for CNGA3 gene from 6/22 species (see all 22) About this table
| Organism |
Taxonomic classification |
Gene |
Description |
Human Similarity |
Orthology Type |
Details |
chicken (Gallus gallus) |
Aves |
CNGA31 |
cyclic nucleotide gated channel alpha 3 |
71.29(n) 76.73(a) |
  |
396144 NM_205221.1 NP_990552.1 |
lizard (Anolis carolinensis) |
Reptilia |
CNGA36 |
-- |
73(a) |
1 ↔ 1 |
3(109567184-109582129) |
African clawed frog (Xenopus laevis) |
Amphibia |
Xl.311262 |
Xenopus laevis transcribed sequence with strong similarity more |
76.31(n) |
  |
AW640105.1 |
zebrafish (Danio rerio) |
Actinopterygii |
570957592 |
-- |
74.77(n) |
  |
57095759 |
fruit fly (Drosophila melanogaster) |
Insecta |
CG35363 Cng1 |
intracellular cyclic nucleotide activated cation more3 Cyclic-nucleotide-gated ion channel protein1 |
63(a) (best of 3)3 60(n)1 59.01(a)1 |
  |
59A43 368061 NM_001202031.11 NP_001188960.11 |
worm (Caenorhabditis elegans) |
Secernentea |
tax-43 |
Cyclic-nucleotide-gated olfactory channel |
49(a) (best of 4) |
  |
III(9253275-9257290) -- |
ENSEMBL Gene Tree for CNGA3 (if available) TreeFam Gene Tree for CNGA3 (if available)  |
Paralogs for CNGA3 gene(Paralogs according to
1HomoloGene, 2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68) About This Section
| Paralogs for CNGA3 gene
- KCNH62 KCNH32 KCNH52 HCN32 HCN42 HCN22 KCNH42 CNGA22
- CNGA12 HCN12 KCNH72 KCNH22 CNGB12 CNGA42 CNGB32 KCNH12
- KCNH82
5 SIMAP similar genes for CNGA3 using alignment to 3 protein entries: CNGA3_HUMAN (see all proteins):CNGA1 CNGA2 CNGA4 CNGB3 CNGB1
CNGA3 for paralogs About GeneDecksing
|
Genomic Variants for CNGA3 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical significance | Chr 2 pos | Sequence | # | AA Chg | Type | More | # | Allele freq | Pop | Total sample | More |
|---|
HapMap Linkage Disequilibrium report for CNGA3 (98962618 - 99015064 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV) variations for CNGA3: -- Human Gene Mutation Database (HGMD): CNGA3
Locus Specific Mutation Databases (LSDB): CNGA3
 | SABiosciences Cancer Mutation PCR Assays |
|  | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CNGA3 |
|
Disorders
/ Diseases for CNGA3 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
CNGA3 for disorders About GeneDecksing
OMIM gene information: 600053 OMIM disorders: 216900 UniProtKB/Swiss-Prot: CNGA3_HUMAN, Q16281
Defects in CNGA3 are the cause of achromatopsia type 2 (ACHM2) [MIM:216900]; also known as totalcolorblindness or rod monochromacy (RMCH2). ACHM2 is an autosomal recessive condition characterized by day blindnessand photophobia. In ACHM2 patients the cones are defective and the subjects see better at night 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 bynystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus 20 diseases for CNGA3: About MalaCardscolor blindness achromatopsia blindness enhanced s-cone syndrome blue cone monochromacy cone-rod dystrophy achromatopsia 2 leber congenital amaurosis amelogenesis imperfecta cone dystrophy congenital nystagmus nystagmus macular degeneration hyperopia retinitis pigmentosa keratoconus retinitis retinal disease hypertension neuronitis 5 diseases from the University of Copenhagen DISEASES database for CNGA3:Achromatopsia Color blindness Congenital nystagmus Blue cone monochromacy Fundus dystrophy 5 Novoseek disease relationships for CNGA3 gene About this table
GeneTests: CNGA3 Achromatopsia Human Genome Epidemiology (HuGE) Navigator: CNGA3 (3 documents) Export disorders for CNGA3 gene to outside databases
|
Publications for CNGA3 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for CNGA3 gene, integrated from 9 sources (see all 66): (articles sorted by number of sources associating them with CNGA3) | |  | Utopia: connect your pdf to the dynamic world of online information |
- Cloning, chromosomal localization and functional expression of the gene encoding the alpha-subunit of the cGMP-gated channel in human cone photoreceptors. (PubMed id 9517456)1, 2, 3 Wissinger B....Zrenner E. (1997)
- Expression of cyclic nucleotide-gated cation channels in non-sensory tissues and cells. (PubMed id 7532814)1, 2, 3 Distler M.... Hofmann F. (1994)
- CNGA3 mutations in hereditary cone photoreceptor disorders. (PubMed id 11536077)1, 2, 9 Wissinger B.... Kohl S. (2001)
- Mutations in CNGA3 impair trafficking or function of cone cyclic nucleotide-gated channels, resulting in achromatopsia. (PubMed id 18521937)1, 2, 9 Reuter P.... Wissinger B. (2008)
- Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases. (PubMed id 15712225)1, 2, 9 Nishiguchi K.M....Dryja T.P. (2005)
- Achromatopsia caused by novel mutations in both CNGA3 and CNGB3. (PubMed id 14757870)1, 2, 9 Johnson S....Hunt D.M. (2004)
- Genetic basis of total colourblindness among the Pingelapese islanders. (PubMed id 10888875)1, 2, 9 Sundin O.H.... Maumenee I.H. (2000)
- Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel. (PubMed id 9662398)1, 2, 9 Kohl S.... Wissinger B. (1998)
- Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with leber congenital amaurosis. (PubMed id 21901789)1, 2 Wang X.... Chen R. (2011)
- Functional consequences of progressive cone dystrophy-associated mutations in the human cone photoreceptor cyclic nucleotide-gated channel CNGA3 subunit. (PubMed id 15743887)1, 2 Liu C. and Varnum M.D. (2005)
|
External Searches for CNGA3 gene
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing CNGA3 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing CNGA3 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing CNGA3 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| Name | Description |
| PharmGKB entry for CNGA3 | Pharmacogenomics, SNPs, Pathways | | Mutations of the CNGA3 gene | http://www.retina-international.org/files/sci-news/cnga3mut.htm | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CNGA3 |
|
| | |
About This Section
| Patent Information for CNGA3 gene: Search GeneIP for patents involving CNGA3
GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products for CNGA3 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences), In Situ Hybridization Assays from Advanced Cell Diagnostics About This Section
|
 | |
 | |
 |
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variant library, vector shuttling | | OriGene Custom Antibody Services for CNGA3 | | OriGene Custom Protein Services for CNGA3 | | OriGene Custom Immunoassay Development | | |
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| | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat CNGA3 | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CNGA3 | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CNGA3 | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CNGA3 | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CNGA3 | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CNGA3 |
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| | | Search Tocris compounds for CNGA3 |
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 | | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CNGA3 |
|  |  |  | | | Search ThermoFisher Antibodies for CNGA3 |
| | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CNGA3 |
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