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CNGA1 Gene

protein-coding   GIFtS: 66
GCID: GC04M047853

Cyclic Nucleotide Gated Channel Alpha 1


(Previous symbols: CNCG1, CNCG)
  See CNGA1-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 11 2     CNG12 3
CNCG11 2 3 5     CNG Channel Alpha-12 3
CNCG1 2 3     RP492 5
Cyclic Nucleotide-Gated Cation Channel 12 3     RCNC12
Cyclic Nucleotide-Gated Channel Alpha-12 3     RCNCa2
Cyclic Nucleotide-Gated Channel, Photoreceptor2 3     RCNCalpha2
Rod Photoreceptor CGMP-Gated Channel Subunit Alpha2 3     CGMP-Gated Cation Channel Alpha-12
CNG-12 3     Interleukin-1 Homologue2

External Ids:    HGNC: 21481   Entrez Gene: 12592   Ensembl: ENSG000001985157   OMIM: 1238255   UniProtKB: P299733   

Export aliases for CNGA1 gene to outside databases

Previous GC identifers: GC04M048014 GC04M048247 GC04M047787 GC04M047778 GC04M047632 GC04M047257


(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 CNGA1 Gene:
The protein encoded by this gene is involved in phototransduction. Along with another protein, the encoded protein
forms a cGMP-gated cation channel in the plasma membrane, allowing depolarization of rod photoreceptors. This
represents the last step in the phototransduction pathway. Defects in this gene are a cause of retinitis
pigmentosa autosomal recessive (ARRP) disease. Two transcript variants encoding different isoforms have been
found for this gene. (provided by RefSeq, Dec 2008)

GeneCards Summary for CNGA1 Gene:
CNGA1 (cyclic nucleotide gated channel alpha 1) is a protein-coding gene. Diseases associated with CNGA1 include retinitis pigmentosa 49, and retinitis pigmentosa autosomal recessive. GO annotations related to this gene include intracellular cAMP activated cation channel activity and voltage-gated potassium channel activity. An important paralog of this gene is KCNH6.

UniProtKB/Swiss-Prot: CNGA1_HUMAN, P29973
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 rod photoreceptors

Gene Wiki entry for CNGA1 (Cyclic nucleotide-gated channel alpha 1) 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_000004.11  NT_006238.12  NC_018915.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CNGA1 gene promoter:
         NF-YB   CBF-B   CBF-A   NF-YA   NF-YC   CP1C   CP1A   NF-Y   CBF-C   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCNGA1 promoter sequence
   Search Chromatin IP Primers for CNGA1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CNGA1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 4p12   Ensembl cytogenetic band:  4p12   HGNC cytogenetic band: 4p12

CNGA1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CNGA1 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04M047853:  view genomic region     (about GC identifiers)

Start:
47,937,994 bp from pter      End:
48,018,689 bp from pter
Size:
80,696 bases      Orientation:
minus 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: CNGA1_HUMAN, P29973 (See protein sequence)
Recommended Name: cGMP-gated cation channel alpha-1  
Size: 690 amino acids; 79586 Da
Subunit: Tetramer formed of three CNGA1 and one CNGB1 modulatory subunits (By similarity)
Caution: It is uncertain whether Met-1 or Met-5 is the initiator
Sequence caution: Sequence=AAB22778.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: A8K7K6 J3KPZ2 Q16279 Q16485 Q4W5E3
Alternative splicing: 2 isoforms:  P29973-1   P29973-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CNGA1: NX_P29973

Explore proteomics data for CNGA1 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn425
  • Modification sites at PhosphoSitePlus

  • See CNGA1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_000078.2  NP_001136036.1  

    ENSEMBL proteins: 
     ENSP00000384264   ENSP00000426862   ENSP00000389881   ENSP00000423721   ENSP00000421110  
     ENSP00000423327   ENSP00000443401   ENSP00000351320  
    Reactome Protein details: P29973

    CNGA1 Human Recombinant Protein Products:

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    Browse Proteins at Cloud-Clone Corp.

     
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    (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: CNGA1
    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 P29973

    ProtoNet protein and cluster: P29973

    1 Blocks protein domain: IPB000595 Cyclic nucleotide-binding domain

    UniProtKB/Swiss-Prot: CNGA1_HUMAN, P29973
    Domain: The C-terminal coiled-coil domain mediates homotrimerization of CNGA subunits (By similarity)
    Similarity: Belongs to the cyclic nucleotide-gated cation channel (TC 1.A.1.5) family. CNGA1 subfamily
    Similarity: Contains 1 cyclic nucleotide-binding domain


    Find genes that share domains with CNGA1           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: CNGA1_HUMAN, P29973
    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 rod photoreceptors

         Genatlas biochemistry entry for CNGA1:
    cyclic guanine nucleotide gated channel (cGMP),rod photoreceptor,expressed in the rod outer segment alpha 1
    subunit,heterodimerizing with CNGB4

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005216ion 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--
    GO:0005515protein binding IPI--
         
    Find genes that share ontologies with CNGA1           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for CNGA1:
     Decreased viability with pacli  Increased homologous recombina 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CNGA1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CNGA1
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    miRNA
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    1 qRT-PCR Assays for microRNA that regulate CNGA1:
    hsa-miR-330-3p
    SwitchGear 3'UTR luciferase reporter plasmidCNGA1 3' UTR sequence
    Inhib. RNA
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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
    CNGA1_HUMAN, P29973: Membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    cytosol1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001750photoreceptor outer segment ----
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane TAS7479749
    GO:0016020membrane ----
    GO:0042622photoreceptor outer segment membrane IEA--

    Find genes that share ontologies with CNGA1           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 CNGA1 About   (see all 11)  
    See pathways by source

    SuperPathContained pathways About
    1The phototransduction cascade
    The phototransduction cascade0.51
    Inactivation, recovery and regulation of the phototransduction cascade0.49
    Visual signal transduction- Rods0.51
    Activation of the phototransduction cascade0.00
    Phototransduction0.51
    2Activation of cAMP-Dependent PKA
    Activation of cAMP-Dependent PKA0.77
    PKA Signaling0.56
    cAMP Pathway0.77
    3Diseases associated with visual transduction
    Visual phototransduction0.44
    Diseases associated with visual transduction0.43
    4Sweet Taste Signaling
    Cellular Effects of Sildenafil0.46
    Sperm Motility0.37
    5Signaling by GPCR
    Signal Transduction0.58


    Find genes that share SuperPaths with CNGA1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for CNGA1 (see all 9)
        Cellular Effects of Sildenafil
    Cholera Infection
    PKA Signaling
    eNOS Signaling
    cAMP Pathway

    1 BioSystems Pathway for CNGA1
        Visual signal transduction- Rods

    2 Reactome Pathways for CNGA1
        Activation of the phototransduction cascade
    Inactivation, recovery and regulation of the phototransduction cascade


    1 Kegg Pathway  (Kegg details for CNGA1):
        Phototransduction

        Pathway & Disease-focused RT2 Profiler PCR Array including CNGA1: 
              Hypertension in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for CNGA1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 17)

    Selected Interacting proteins for CNGA1 (P299731, 2, 3 ENSP000003842644) via UniProtKB, MINT, STRING, and/or I2D (see all 22)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SLC24A1O607213, ENSP000002618924I2D: score=2 STRING: ENSP00000261892
    GRB14Q144493, ENSP000002639154I2D: score=1 STRING: ENSP00000263915
    GJA1P173023I2D: score=1 
    GNAT1ENSP000002324614STRING: ENSP00000232461
    PDE6AENSP000002552664STRING: ENSP00000255266
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport TAS7479749
    GO:0006811ion transport ----
    GO:0007601visual perception IEA--
    GO:0007603phototransduction, visible light TAS--
    GO:0016056rhodopsin mediated signaling pathway TAS--

    Find genes that share ontologies with CNGA1           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 CNGA1

    1 HMDB Compound for CNGA1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Cyclic GMP3',5'-cyclic GMP (see all 13)7665-99-8--

    2 IUPHAR Ligands for CNGA1 (CNGA1)    About this table
    LigandTypeActionAffinityPubmed IDs
    cGMP
    ActivatorAgonist4.167526403 7479749 9512030 12467592 1379636 9874685 7530019
    L-(cis)-diltiazem
    Pore BlockerAntagonist47682292



    (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 CNGA1 gene (2 alternative transcripts): 
    NM_000087.3  NM_001142564.1  

    Unigene Cluster for CNGA1:

    Cyclic nucleotide gated channel alpha 1
    Hs.1323  [show with all ESTs]
    Unigene Representative Sequence: NM_001142564
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000402813(uc003gxu.3) ENST00000514170(uc003gxv.1) ENST00000420489(uc003gxt.4)
    ENST00000506118 ENST00000504722 ENST00000514520 ENST00000513178 ENST00000544810
    ENST00000358519
    miRNA
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    1 qRT-PCR Assays for microRNA that regulate CNGA1:
    hsa-miR-330-3p
    SwitchGear 3'UTR luciferase reporter plasmidCNGA1 3' UTR sequence
    Inhib. RNA
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      QuantiFast Probe-based Assays in human, mouse, rat CNGA1

    Additional mRNA sequence: 

    AK292021.1 M84741.1 S42457.1 X64802.1 

    6 DOTS entries:

    DT.312592  DT.100659925  DT.99932944  DT.121240741  DT.40306891  DT.95175958 

    Selected AceView cDNA sequences (see all 46):

    AL711841 AI206400 BM668529 AL711805 BM664585 BM696079 BX109510 W93472 
    BM693218 AI800043 AI669887 BM677264 W89169 M84741 AI380866 BM721661 
    BX509701 BQ637979 BX500913 AI658669 AI738459 BG209012 S42457 W57704 

    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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    CNGA1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TACATCATAT
    CNGA1 Expression
    About this image


    CNGA1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Eye (Sensory Organs)    fully expand to see all 3 entries
             Mature Rod Cells Outer Nuclear Layer
             Photoreceptor-like cells
     
     NULL (Sensory Organs)    fully expand to see all 2 entries
             Photoreceptor-like cells
     
     Neurons
             Mature Rod Cells Outer Nuclear Layer
     
     Bone (Muscoskeletal System)
             Zeugopod Growth Plate
    CNGA1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CNGA1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.1323

    UniProtKB/Swiss-Prot: CNGA1_HUMAN, P29973
    Tissue specificity: Rod cells in the retina

        Pathway & Disease-focused RT2 Profiler PCR Array including CNGA1: 
              Hypertension in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CNGA1

    (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 CNGA1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cnga11 , 5 cyclic nucleotide gated channel alpha 11, 5 85.88(n)1
    89.12(a)1
      5 (38.44 cM)5
    127881  NM_007723.21  NP_031749.21 
     726036965 
    chicken
    (Gallus gallus)
    Aves CNGA11 cyclic nucleotide gated channel alpha 1 76.08(n)
    80.32(a)
      396143  NM_205220.2  NP_990551.1 
    lizard
    (Anolis carolinensis)
    Reptilia CNGA16
    cyclic nucleotide gated channel alpha 1
    77(a)
    1 ↔ 1
    GL343293.1(592340-603518)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia cnga11 cyclic nucleotide gated channel alpha 1 72.22(n)
    74.39(a)
      100491997  XM_002933461.2  XP_002933507.1 
    zebrafish
    (Danio rerio)
    Actinopterygii cnga11 cyclic nucleotide gated channel alpha 1 68.66(n)
    75.9(a)
      572249  XM_695944.6  XP_701036.4 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG35363 intracellular cyclic nucleotide
    activated cation more
    59(a)
    (best of 3)
      59A4   --
    worm
    (Caenorhabditis elegans)
    Secernentea tax-43 Cyclic-nucleotide-gated olfactory
    channel
    51(a)
    (best of 5)
      III(9253275-9257290)   --


    ENSEMBL Gene Tree for CNGA1 (if available)
    TreeFam Gene Tree for CNGA1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CNGA1 gene
    KCNH62  KCNH32  KCNH52  HCN32  HCN42  KCNH42  HCN22  CNGA22  
    HCN12  KCNH22  KCNH72  CNGB12  CNGA42  CNGA32  CNGB32  KCNH82  
    KCNH12  
    4 SIMAP similar genes for CNGA1 using alignment to 3 protein entries:     CNGA1_HUMAN (see all proteins):
    CNGA2    CNGA3    CNGA4    CNGB3

    Find genes that share paralogs with CNGA1           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for CNGA1
    PGOHUM00000242361


    (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 CNGA1 (see all 1668)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs626250141,2,,4
    CRetinitis pigmentosa 49 (RP49)4 pathogenic147819489(+) AAATAG/AAGTAG 4 /S /F mis11Minor allele frequency- A:0.00EU 1323
    rs1219095991,2
    Cpathogenic147831847(-) CCAGGA/G/TAGCAG 4 E * stg10--------
    rs76904061,2
    C,F,H--47817579(+) TAATCA/GTCCAG 2 -- ds500132Minor allele frequency- G:0.08NS EA NA WA CSA 2948
    rs92913181,2
    C,F,A,H--47817664(+) TCTTAA/GTAATC 2 -- ds500128Minor allele frequency- G:0.18NS NA EA WA CSA 2474
    rs765630431,2
    C,F--47817665(+) CTTAGT/CAATCA 2 -- ds50011Minor allele frequency- C:0.14WA 118
    rs1383872101,2
    C--47817751(+) GTGTG-/TATATAT 2 -- ds50010--------
    rs76695671,2
    C,A--47817753(+) tgtgtA/Gtatat 2 -- ds50010--------
    rs1475807781,2
    --47817997(+) GTACAC/TGGTAA 2 -- ut310--------
    rs1863621151,2
    --47818033(+) ACTCAA/GCAATG 2 -- ut310--------
    rs1419780201,2
    C--47818101(+) TGAGCA/GTATGT 2 -- ut310--------

    HapMap Linkage Disequilibrium report for CNGA1 (47937994 - 48018689 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for CNGA1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2727535CNV Deletion23290073
    esv2727536CNV Deletion23290073
    esv2498611CNV Deletion19546169
    esv2663876CNV Deletion23128226
    esv2174980CNV Deletion18987734
    esv2727534CNV Deletion23290073
    nsv290106CNV Loss16902084
    nsv509895CNV Loss20534489

    Human Gene Mutation Database (HGMD): CNGA1
    Locus Specific Mutation Databases (LSDB): CNGA1

    Site Specific Mutation Identification with PCR Assays
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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.)
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    OMIM gene information: 123825   
    OMIM disorders: 613756  
    UniProtKB/Swiss-Prot: CNGA1_HUMAN, P29973
  • Retinitis pigmentosa 49 (RP49) [MIM:613756]: A retinal dystrophy belonging to the group of pigmentary
    retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination
    and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically
    have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose
    their far peripheral visual field and eventually central vision as well. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 5 diseases for CNGA1:    
    About MalaCards
    retinitis pigmentosa 49    retinitis pigmentosa autosomal recessive    cnga1-related retinitis pigmentosa    retinitis pigmentosa
    leber congenital amaurosis

    1 disease from the University of Copenhagen DISEASES database for CNGA1:
    Hypertrichosis

    Find genes that share disorders with CNGA1           About GenesLikeMe

    1 Novoseek inferred disease relationship for CNGA1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    retinitis pigmentosa 66.1 2 12362048 (1), 11970862 (1)

    Genetic Association Database (GAD): CNGA1
    Human Genome Epidemiology (HuGE) Navigator: CNGA1 (1 document)

    Export disorders for CNGA1 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 CNGA1 gene, integrated from 10 sources (see all 27):
    (articles sorted by number of sources associating them with CNGA1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human rod photoreceptor cGMP-gated channel: amino acid sequence, gene structure, and functional expression. (PubMed id 1379636)1, 2, 9 Dhallan R.S....Nathans J. (J. Neurosci. 1992)
    2. 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)
    3. International Union of Pharmacology. LI. Nomenclature and structure-function relationships of cyclic nucleotide-regulated channels. (PubMed id 16382102)1, 3 Hofmann F....Kaupp U.B. (Pharmacol. Rev. 2005)
    4. Autosomal recessive retinitis pigmentosa in a Pakistani family mapped to CNGA1 with identification of a novel mutation. (PubMed id 15570217)1, 2 Zhang Q.... Hejtmancik J.F. (Mol. Vis. 2004)
    5. Mutations in the gene encoding the alpha subunit of the rod cGMP- gated channel in autosomal recessive retinitis pigmentosa. (PubMed id 7479749)1, 2 Dryja T.P.... Yau K.-W. (Proc. Natl. Acad. Sci. U.S.A. 1995)
    6. Expression of cyclic nucleotide-gated cation channels in non-sensory tissues and cells. (PubMed id 7532814)1, 2 Distler M.... Hofmann F. (Neuropharmacology 1994)
    7. Human rod cGMP-gated cation channel gene maps to 4p12--&gt;centromere by chromosomal in situ hybridization. (PubMed id 7683629)1, 3 Griffin C.A....Levine M.A. (Genomics 1993)
    8. Primary structure and chromosomal localization of human and mouse rod photoreceptor cGMP-gated cation channel. (PubMed id 1372902)1, 2 Pittler S.J.... Baehr W. (J. Biol. Chem. 1992)
    9. Novel homozygous mutation in the alpha subunit of the rod cGMP gated channel (CNGA1) in two Spanish sibs affected with autosomal recessive retinitis pigmentosa. (PubMed id 12362048)1, 9 Paloma E....Balcells S. (J. Med. Genet. 2002)
    10. Insulin receptor regulates photoreceptor CNG channel activity. (PubMed id 23032687)1 Gupta V.K....Rajala R.V. (Am. J. Physiol. Endocrinol. Metab. 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 1259 HGNC: 2148 AceView: CNGA1 Ensembl:ENSG00000198515 euGenes: HUgn1259
    ECgene: CNGA1 Kegg: 1259 H-InvDB: CNGA1

    (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 CNGA1 Pharmacogenomics, SNPs, Pathways
    Mutations of the CNGA1 genehttp://www.retina-international.org/files/sci-news/cnga1mut.htm
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=CNGA1[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 CNGA1 gene:
    Search GeneIP for patents involving CNGA1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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