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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CNGA3 Gene

protein-coding   GIFtS: 60
GCID: GC02P098962

cyclic nucleotide gated channel alpha 3


(Previous symbols: CNCG3, ACHM2)
 Explore 20 diseases affiliated with
CNGA3 via our new
 Human Malady Compendium 
Biological research products
for CNGA3
    

(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     

External Ids:    HGNC: 21501   Entrez Gene: 12612   Ensembl: ENSG000001441917   OMIM: 6000535   UniProtKB: Q162813   

Export aliases for CNGA3 gene to outside databases

Previous GC identifers: GC02P096868 GC02P097438 GC02P098590 GC02P098607 GC02P098444 GC02P098329 GC02P092727


(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 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)

UniProtKB/Swiss-Prot: CNGA3_HUMAN, Q16281
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 Wiki entry for CNGA3 (Cyclic nucleotide-gated channel alpha 3)


(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

SwitchGear Promoter luciferase reporter plasmidCNGA3 promoter sequence
   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: 2q11.2

CNGA3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CNGA3 gene location

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

(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 Q9UP64
Alternative 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 PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q16281

  • CNGA3 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001073347.1  NP_001289.1  

    ENSEMBL proteins: 
     ENSP00000410070   ENSP00000272602   ENSP00000386761   ENSP00000377140  

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    Browse Proteins at Uscn

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001750photoreceptor outer segment IEA--
    GO:0005886plasma membrane IEA--
    GO:0016021integral to membrane IEA--


    CNGA3 for ontologies           About GeneDecksing



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    (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:
     IPR018488 cNMP-bd_CS
     IPR018490 cNMP-bd-like
     IPR005821 Ion_trans_dom
     IPR000595 cNMP-bd_dom
     IPR014710 RmlC-like_jellyroll

    Graphical View of Domain Structure for InterPro Entry Q16281

    ProtoNet protein and cluster: Q16281

    1 Blocks protein family: IPB000595 Cyclic nucleotide-binding domain

    UniProtKB/Swiss-Prot: CNGA3_HUMAN, Q16281
    Similarity: Belongs to the cyclic nucleotide-gated cation channel (TC 1.A.1.5) family. CNGA3 subfamily
    Similarity: Contains 1 cyclic nucleotide-binding domain


    (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, Q16281
    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 entry for CNGA3:
    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

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    Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005216ion channel activity ----
    GO:0005221intracellular cyclic nucleotide activated cation channel activity IEA--
    GO:0005515protein binding ----
    GO:0015276ligand-gated ion channel activity TAS9517456
    GO:0030553cGMP binding IEA--


    CNGA3 for ontologies           About GeneDecksing


    3 GenomeRNAi human phenotypes for CNGA3:
     Big cells  Increased homologous recombina  Synthetic lethal with paclitax 

    Animal Models:
         Mouse knock-out Cnga3tm1Biel for CNGA3
         4 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Cnga3):
     behavior/neurological  nervous system  taste/olfaction  vision/eye 

    CNGA3 for phenotypes           About GeneDecksing


    (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 9About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Activation of cAMP-Dependent PKA
    Activation of cAMP-Dependent PKA1.00
    PKA Signaling0.56
    cAMP Pathway0.77
    2Sweet Taste Signaling
    Cellular Effects of Sildenafil0.46
    Sperm Motility0.36
    3Potassium transporters: inward current
    Potassium transporters: inward current1.00
    4Visual Cycle in Retinal Rods
    Visual Cycle in Retinal Rods1.00
    5Olfactory transduction
    Olfactory transduction1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for CNGA3
        Potassium transporters- inward current

    5/9 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for CNGA3 (see all 9)
        Cellular Effects of Sildenafil
    Cholera Infection
    PKA Signaling
    eNOS Signaling
    cAMP Pathway

    1 BioSystems Pathway for CNGA3 
        Visual signal transduction- Cones


    1         Kegg Pathway  (Kegg details for CNGA3):
        Olfactory transduction


    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)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ARRB1P494073I2D: score=1 
    CNGB3ENSP000003166054STRING: ENSP00000316605
    GNAT2ENSP000002513374STRING: ENSP00000251337
    PDE6CENSP000003605024STRING: ENSP00000360502
    ADCY3ENSP000002606004STRING: ENSP00000260600
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport TAS9517456
    GO:0007165signal transduction TAS9517456
    GO:0007601visual perception IEA--
    GO:0046549retinal cone cell development IEA--


    CNGA3 for ontologies           About GeneDecksing



    (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 Small Molecules at EMD Millipore
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    Browse Tocris compounds for CNGA3

    4 HMDB Compounds for CNGA3    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    Cyclic AMPCyclic AMP (see all 19)60-92-4--
    Cyclic GMP3',5'-cyclic GMP (see all 13)7665-99-8--
    Guanosine monophosphate5'-GMP (see all 14)85-32-5--
    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 

    (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_001298
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000436404 ENST00000272602(uc010fij.3) ENST00000409937 ENST00000393503
    ENST00000393504(uc002syt.3 uc002syu.3)

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    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


    (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

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    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, Q16281
    Tissue specificity: Prominently expressed in retina

        SABiosciences Expression via Pathway-Focused PCR Array including CNGA3: 
              Hypertension in human mouse rat

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    In Situ
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    (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 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



    (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

    10/1050 NCBI SNPs in CNGA3 are shown (see all 1050    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1048936151,2
    Cpathogenic108786088(+) TCAAGG/AGGAGC 4 /R /G mis11Minor allele frequency- A:0.00EU 1323
    rs1048936191,2
    Cpathogenic108786172(+) TGGCCA/GTGGTG 4 M V mis10--------
    rs1048936211,2
    Cpathogenic108786451(+) AGACGC/TGGGTT 4 R W mis10--------
    rs1048936161,2
    Cpathogenic108786885(+) CCGCAC/GAGAGA 4 T R mis10--------
    rs1048936141,2
    Cpathogenic108786909(+) TTCCCG/AGCTCT 4 /Q /R mis11Minor allele frequency- A:0.00NA 4542
    rs1048936131,2
    Cpathogenic108786910(+) TTTCCC/TGGCTC 4 R W mis11Minor allele frequency- T:0.00NA 4542
    rs1048936201,2
    Cpathogenic108786928(+) TCAACC/TGCCTA 4 R C mis10--------
    rs1048936121,2
    Cpathogenic108793232(+) GGACCC/TGTCCA 4 P L mis10--------
    rs1410866491,2
    Cother108805234(+) CCACTC/TGTCAA 4 S L mis11Minor allele frequency- T:0.00NA 4466
    rs1161509111,2
    C,F,--92725866(+) CTGTGG/ATCTCC 2 -- us2k11Minor allele frequency- A:0.04WA 118

    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
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    (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 total
  • colorblindness or rod monochromacy (RMCH2). ACHM2 is an autosomal recessive condition characterized by day blindness
    and 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 by
    nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus

    20 diseases for CNGA3:    About MalaCards
    color 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

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    achromatopsia 98.6 38 18636117 (3), 11536077 (2), 18445228 (2), 20079539 (2) (see all 22)
    progressive cone dystrophy 92.4 4 20079539 (2), 11536077 (1), 12205108 (1)
    color blindness 87 2 18445228 (2)
    enhanced s-cone syndrome 84.9 2 12187427 (1)
    retinopathy 48.6 1 18521937 (1)

    GeneTests: CNGA3
    Achromatopsia

    Human Genome Epidemiology (HuGE) Navigator: CNGA3 (3 documents)

    Export disorders for CNGA3 gene to outside databases

    (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

    1. 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)
    2. Expression of cyclic nucleotide-gated cation channels in non-sensory tissues and cells. (PubMed id 7532814)1, 2, 3 Distler M.... Hofmann F. (1994)
    3. CNGA3 mutations in hereditary cone photoreceptor disorders. (PubMed id 11536077)1, 2, 9 Wissinger B.... Kohl S. (2001)
    4. 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)
    5. 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)
    6. Achromatopsia caused by novel mutations in both CNGA3 and CNGB3. (PubMed id 14757870)1, 2, 9 Johnson S....Hunt D.M. (2004)
    7. Genetic basis of total colourblindness among the Pingelapese islanders. (PubMed id 10888875)1, 2, 9 Sundin O.H.... Maumenee I.H. (2000)
    8. 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)
    9. 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)
    10. 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)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
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    NCBI Bookshelf
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 1261 HGNC: 2150 AceView: CNGA3 Ensembl:ENSG00000144191 euGenes: HUgn1261
    ECgene: CNGA3 Kegg: 1261 H-InvDB: CNGA3

    (According to HUGE)
    About This Section
      --

    (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
    NameDescription
    PharmGKB entry for CNGA3 Pharmacogenomics, SNPs, Pathways
    Mutations of the CNGA3 genehttp://www.retina-international.org/files/sci-news/cnga3mut.htm
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CNGA3

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    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



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