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CNGA3 Gene

protein-coding   GIFtS: 62
GCID: GC02P098962

Cyclic Nucleotide Gated Channel Alpha 3


(Previous symbols: CNCG3, ACHM2)
  See CNGA3-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Cyclic Nucleotide Gated Channel Alpha 31 2     CNG Channel Alpha-32 3
CNCG31 2 3     CCNC12
ACHM21 2 5     CCNCa2
CNG32 3 5     CCNCalpha2
Cone Photoreceptor CGMP-Gated Channel Subunit Alpha2 3     Cone Photoreceptor CGMP-Gated Channel Alpha Subunit2
Cyclic Nucleotide-Gated Channel Alpha-32 3     Cyclic Nucleotide-Gated Cation Channel Alpha-32
CNG-32 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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 color blindness. GO annotations related to this gene include ligand-gated ion channel activity and voltage-gated potassium channel activity. An important paralog of this gene is KCNH6.

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) 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000002.11  NT_005403.18  NC_018913.2  
Regulatory elements:
   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 Chromatin IP Primers for CNGA3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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 three CNGA3 and one CNGB3 modulatory subunits
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

Explore proteomics data for CNGA3 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See CNGA3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

    ENSEMBL proteins: 
     ENSP00000410070   ENSP00000272602   ENSP00000386761   ENSP00000377140  

    CNGA3 Human Recombinant Protein Products:

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    Novus Biologicals CNGA3 Protein
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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for CNGA3 

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    Search eBioscience for ELISAs for CNGA3 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    CNG: Voltage-gated ion channels / Cyclic nucleotide-regulated channels

    IUPHAR Guide to PHARMACOLOGY protein family classification: CNGA3
    Cyclic nucleotide-regulated channels

    5 InterPro protein domains:
     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 domain: IPB000595 Cyclic nucleotide-binding domain

    UniProtKB/Swiss-Prot: CNGA3_HUMAN, Q16281
    Domain: The C-terminal coiled-coil domain mediates homotrimerization of CNGA subunits
    Similarity: Belongs to the cyclic nucleotide-gated cation channel (TC 1.A.1.5) family. CNGA3 subfamily
    Similarity: Contains 1 cyclic nucleotide-binding domain


    Find genes that share domains with CNGA3           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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

         Gene Ontology (GO): Selected molecular function terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005216ion channel activity ----
    GO:0005221intracellular cyclic nucleotide activated cation channel activity ----
    GO:0005222intracellular cAMP activated cation channel activity IBA--
    GO:0005223intracellular cGMP activated cation channel activity IBA--
    GO:0005249voltage-gated potassium channel activity IBA--
         
    Find genes that share ontologies with CNGA3           About GenesLikeMe


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

         4 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Cnga3):
     behavior/neurological  nervous system  taste/olfaction  vision/eye 

    Find genes that share phenotypes with CNGA3           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Cnga3tm1Biel for CNGA3

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CNGA3
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CNGA3

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CNGA3
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CNGA3

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    hsa-miR-182 hsa-miR-19b hsa-miR-518a-5p hsa-miR-3119 hsa-miR-1914 hsa-miR-19a hsa-miR-450b-5p
    SwitchGear 3'UTR luciferase reporter plasmidCNGA3 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat CNGA3

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    Sino Biological Human cDNA Clone for CNGA3
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CNGA3_HUMAN, Q16281: Membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane3
    cytosol2
    endoplasmic reticulum1

    Gene Ontology (GO): Selected cellular component terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001750photoreceptor outer segment ----
    GO:0005737cytoplasm IEA--
    GO:0005886plasma membrane ----
    GO:0005887integral component of plasma membrane IBA--
    GO:0016020membrane ----

    Find genes that share ontologies with CNGA3           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for CNGA3 About   (see all 9)  
    See pathways by source

    SuperPathContained pathways About
    1Activation of cAMP-Dependent PKA
    Activation of cAMP-Dependent PKA0.77
    PKA Signaling0.56
    cAMP Pathway0.77
    2Sweet Taste Signaling
    Cellular Effects of Sildenafil0.46
    Sperm Motility0.37
    3Olfactory Signaling Pathway
    Olfactory transduction0.82
    4CREB Pathway
    Intracellular Calcium Signaling0.50
    5Nanog in Mammalian ESC Pluripotency
    eNOS Signaling0.48


    Find genes that share SuperPaths with CNGA3           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe 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

        Pathway & Disease-focused RT2 Profiler PCR Array including CNGA3: 
              Hypertension in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for CNGA3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 21)

    Selected Interacting proteins for CNGA3 (Q162813 ENSP000002726024) via UniProtKB, MINT, STRING, and/or I2D (see all 22)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ARRB1P494073I2D: score=1 
    GNAT2ENSP000002513374STRING: ENSP00000251337
    PDE6CENSP000003605024STRING: ENSP00000360502
    ADCY3ENSP000002606004STRING: ENSP00000260600
    CALM1ENSP000003494674STRING: ENSP00000349467
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    Gene Ontology (GO): Selected biological process terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport TAS9517456
    GO:0006811ion transport ----
    GO:0007165signal transduction TAS9517456
    GO:0007601visual perception IEA--
    GO:0007603phototransduction, visible light IBA--

    Find genes that share ontologies with CNGA3           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    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--

    3 IUPHAR Ligands for CNGA3 (CNGA3)    About this table
    LigandTypeActionAffinityPubmed IDs
    cGMP
    ActivatorAgonist4.88814292 9517456 12730238
    cAMP
    ActivatorAgonist2.888814292 12730238
    L-(cis)-diltiazem
    InhibitorNone2.88--

    1 Novoseek inferred 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)



    Find genes that share compounds with CNGA3           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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)
    miRNA
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    hsa-miR-182 hsa-miR-19b hsa-miR-518a-5p hsa-miR-3119 hsa-miR-1914 hsa-miR-19a hsa-miR-450b-5p
    SwitchGear 3'UTR luciferase reporter plasmidCNGA3 3' UTR sequence
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      QuantiFast Probe-based Assays in human, mouse, rat CNGA3

    Additional mRNA 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:

    AK131300 AF065314 NM_001298 BX283441 BG473313 BI438551 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CNGA3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTGCAAATTA
    CNGA3 Expression
    About this image

    CNGA3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CNGA3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.234785

    UniProtKB/Swiss-Prot: CNGA3_HUMAN, Q16281
    Tissue specificity: Prominently expressed in retina

        Pathway & Disease-focused RT2 Profiler PCR Array including CNGA3: 
              Hypertension in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CNGA3

    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for CNGA3 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cnga31 , 5 cyclic nucleotide gated channel alpha 31, 5 83.26(n)1
    82.61(a)1
      1 (15.46 cM)5
    127901  NM_001282010.11  NP_001268939.11 
     372183365 
    chicken
    (Gallus gallus)
    Aves CNGA31 cyclic nucleotide gated channel alpha 3 71.56(n)
    77.24(a)
      396144  NM_205221.1  NP_990552.1 
    lizard
    (Anolis carolinensis)
    Reptilia CNGA36
    cyclic nucleotide gated channel alpha 3
    72(a)
    1 ↔ 1
    3(109567184-109582226)
    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
    60.12(n)1
    58.94(a)1
      59A43
    368061  NM_057768.21  NP_477116.11 
    worm
    (Caenorhabditis elegans)
    Secernentea tax-41 , 3 Cyclic-nucleotide-gated olfactory
    channel3
    tax-41
    49(a)
    (best of 4)3
    54.19(n)1
    55.45(a)1
      III(9253275-9257290)3
    1762971  NM_066632.41  NP_499033.11 


    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)
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    Paralogs for CNGA3 gene
    KCNH62  KCNH32  KCNH52  HCN32  HCN42  KCNH42  HCN22  CNGA12  
    CNGA22  HCN12  KCNH22  KCNH72  CNGB12  CNGA42  CNGB32  KCNH82  
    KCNH12  
    5 SIMAP similar genes for CNGA3 using alignment to 3 protein entries:     CNGA3_HUMAN (see all proteins):
    CNGA1    CNGA2    CNGA4    CNGB3    CNGB1

    Find genes that share paralogs with CNGA3           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CNGA3 (see all 1333)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1474156411,2,,4
    C,FAchromatopsia 2 (ACHM2)4 --98669501(+) TTCTCG/AAGCAA 4 /K /E mis11Minor allele frequency- A:0.00NA 4550
    rs1413868911,2,,4
    C,FAchromatopsia 2 (ACHM2)4 --98670098(+) AGTTCC/TGCAAG 4 R C mis12Minor allele frequency- T:0.00NA EU 5873
    rs1175220101,2,,4
    C,FAchromatopsia 2 (ACHM2)4 --98670224(+) AGATCG/ACCATC 4 /T /A mis11Minor allele frequency- A:0.02EA 120
    VAR_0475934
    Achromatopsia 2 (ACHM2)4--see VAR_0475932 D V mis40--------
    VAR_0476014
    Achromatopsia 2 (ACHM2)4--see VAR_0476012 T M mis40--------
    VAR_0475954
    Achromatopsia 2 (ACHM2)4--see VAR_0475952 G E mis40--------
    VAR_0475864
    Achromatopsia 2 (ACHM2)4--see VAR_0475862 S P mis40--------
    VAR_0109044
    Achromatopsia 2 (ACHM2)4--see VAR_0109042 R Q mis40--------
    VAR_0475894
    Achromatopsia 2 (ACHM2)4--see VAR_0475892 R W mis40--------
    VAR_0109064
    Achromatopsia 2 (ACHM2)4--see VAR_0109062 T R mis40--------

    HapMap Linkage Disequilibrium report for CNGA3 (98962618 - 99015064 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for CNGA3:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv518056CNV Gain19592680

    Human Gene Mutation Database (HGMD): CNGA3
    Locus Specific Mutation Databases (LSDB): CNGA3

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CNGA3
    DNA2.0 Custom Variant and Variant Library Synthesis for CNGA3

    (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.)
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    OMIM gene information: 600053   
    OMIM disorders: 216900  
    UniProtKB/Swiss-Prot: CNGA3_HUMAN, Q16281
  • 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. Note=The disease is caused by mutations affecting the gene represented in this entry
  • 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

  • 6 diseases for CNGA3:    
    About MalaCards
    achromatopsia 2    color blindness    oligocone trichromacy    achromatopsia
    blue cone monochromacy    congenital nystagmus

    5 diseases from the University of Copenhagen DISEASES database for CNGA3:
    Achromatopsia     Color blindness     Congenital nystagmus     Blue cone monochromacy
    Fundus dystrophy

    Find genes that share disorders with CNGA3           About GenesLikeMe

    5 Novoseek inferred 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
    GeneReviews: CNGA3
    Genetic Association Database (GAD): CNGA3
    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)
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    PubMed articles for CNGA3 gene, integrated from 10 sources (see all 73):
    (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. (Eur. J. Neurosci. 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. (Neuropharmacology 1994)
    3. CNGA3 mutations in hereditary cone photoreceptor disorders. (PubMed id 11536077)1, 2, 9 Wissinger B.... Kohl S. (Am. J. Hum. Genet. 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. (Hum. Mutat. 2008)
    5. Genetic etiology and clinical consequences of complete and incomplete achromatopsia. (PubMed id 19592100)1, 4, 9 Thiadens A.A....Klaver C.C. (Ophthalmology 2009)
    6. 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. (Hum. Mutat. 2005)
    7. Achromatopsia caused by novel mutations in both CNGA3 and CNGB3. (PubMed id 14757870)1, 2, 9 Johnson S.... Hunt D.M. (J. Med. Genet. 2004)
    8. Genetic basis of total colourblindness among the Pingelapese islanders. (PubMed id 10888875)1, 2, 9 Sundin O.H.... Maumenee I.H. (Nat. Genet. 2000)
    9. 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. (Nat. Genet. 1998)
    10. Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip. (PubMed id 20801516)1, 4 Booij J.C....Florijn R.J. (Ophthalmology 2011)

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

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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/books/NBK1116/?term=CNGA3[genesymbol]

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