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    CNGA3 cyclic nucleotide gated channel subunit alpha 3 [ Homo sapiens (human) ]

    Gene ID: 1261, updated on 19-Jun-2019

    Summary

    Official Symbol
    CNGA3provided by HGNC
    Official Full Name
    cyclic nucleotide gated channel subunit alpha 3provided by HGNC
    Primary source
    HGNC:HGNC:2150
    See related
    Ensembl:ENSG00000144191 MIM:600053
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CNG3; ACHM2; CCNC1; CCNCa; CNCG3; CCNCalpha
    Summary
    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]
    Expression
    Low expression observed in reference dataset See more
    Orthologs

    Genomic context

    See CNGA3 in Genome Data Viewer
    Location:
    2q11.2
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (98346155..98399154)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (98962618..99015064)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373501 Neighboring gene von Willebrand factor A domain containing 3B Neighboring gene ATP synthase F1 subunit beta pseudogene 1 Neighboring gene inositol polyphosphate-4-phosphatase type I A Neighboring gene cytochrome c oxidase assembly factor 5

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Pathways from BioSystems

    • Olfactory transduction, organism-specific biosystem (from KEGG)
      Olfactory transduction, organism-specific biosystemWithin the compact cilia of the olfactory receptor neurons (ORNs) a cascade of enzymatic activity transduces the binding of an odorant molecule to a receptor into an electrical signal that can be tra...
    • Olfactory transduction, conserved biosystem (from KEGG)
      Olfactory transduction, conserved biosystemWithin the compact cilia of the olfactory receptor neurons (ORNs) a cascade of enzymatic activity transduces the binding of an odorant molecule to a receptor into an electrical signal that can be tra...
    • Visual signal transduction: Cones, organism-specific biosystem (from Pathway Interaction Database)
      Visual signal transduction: Cones, organism-specific biosystem
      Visual signal transduction: Cones
    • cAMP signaling pathway, organism-specific biosystem (from KEGG)
      cAMP signaling pathway, organism-specific biosystemcAMP is one of the most common and universal second messengers, and its formation is promoted by adenylyl cyclase (AC) activation after ligation of G protein-coupled receptors (GPCRs) by ligands incl...
    • cAMP signaling pathway, conserved biosystem (from KEGG)
      cAMP signaling pathway, conserved biosystemcAMP is one of the most common and universal second messengers, and its formation is promoted by adenylyl cyclase (AC) activation after ligation of G protein-coupled receptors (GPCRs) by ligands incl...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    cGMP binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cGMP binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    intracellular cAMP-activated cation channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    intracellular cGMP-activated cation channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    intracellular cGMP-activated cation channel activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    ligand-gated ion channel activity TAS
    Traceable Author Statement
    more info
    PubMed 
    protein C-terminus binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    cation transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    inorganic cation import across plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    response to cAMP IEA
    Inferred from Electronic Annotation
    more info
     
    response to corticosteroid IEA
    Inferred from Electronic Annotation
    more info
     
    response to magnesium ion IEA
    Inferred from Electronic Annotation
    more info
     
    signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    visual perception IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    axon initial segment IEA
    Inferred from Electronic Annotation
    more info
     
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    dendrite IEA
    Inferred from Electronic Annotation
    more info
     
    glial cell projection IEA
    Inferred from Electronic Annotation
    more info
     
    perikaryon IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    transmembrane transporter complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    cyclic nucleotide-gated cation channel alpha-3
    Names
    CNG channel alpha-3
    CNG-3
    cone photoreceptor cGMP-gated channel alpha subunit
    cone photoreceptor cGMP-gated channel subunit alpha
    cyclic nucleotide gated channel alpha 3

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_009097.1 RefSeqGene

      Range
      5001..57447
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001079878.2NP_001073347.1  cyclic nucleotide-gated cation channel alpha-3 isoform 2

      See identical proteins and their annotated locations for NP_001073347.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the coding region, compared to variant 1. The resulting protein (isoform 2) is shorter and lacks an internal segment, compared to isoform 1.
      Source sequence(s)
      AC092675, BC096299, DR002103
      Consensus CDS
      CCDS42719.1
      UniProtKB/Swiss-Prot
      Q16281
      Related
      ENSP00000410070.2, ENST00000436404.6
      Conserved Domains (4) summary
      COG0664
      Location:458628
      Crp; cAMP-binding domain of CRP or a regulatory subunit of cAMP-dependent protein kinases [Signal transduction mechanisms]
      cd00038
      Location:464580
      CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...
      pfam00520
      Location:168392
      Ion_trans; Ion transport protein
      pfam16526
      Location:580650
      CLZ; C-terminal leucine zipper domain of cyclic nucleotide-gated channels
    2. NM_001298.2NP_001289.1  cyclic nucleotide-gated cation channel alpha-3 isoform 1

      See identical proteins and their annotated locations for NP_001289.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer protein (isoform 1).
      Source sequence(s)
      AC092675
      Consensus CDS
      CCDS2034.1
      UniProtKB/Swiss-Prot
      Q16281
      Related
      ENSP00000377140.1, ENST00000393504.5
      Conserved Domains (3) summary
      cd00038
      Location:482598
      CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...
      pfam00520
      Location:168410
      Ion_trans; Ion transport protein
      pfam16526
      Location:598668
      CLZ; C-terminal leucine zipper domain of cyclic nucleotide-gated channels

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

      Range
      98346155..98399154
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011510554.2XP_011508856.1  cyclic nucleotide-gated cation channel alpha-3 isoform X1

      Related
      ENSP00000386761.1, ENST00000409937.1
      Conserved Domains (4) summary
      COG0664
      Location:531701
      Crp; cAMP-binding domain of CRP or a regulatory subunit of cAMP-dependent protein kinases [Signal transduction mechanisms]
      cd00038
      Location:537653
      CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...
      pfam00520
      Location:241465
      Ion_trans; Ion transport protein
      pfam16526
      Location:653723
      CLZ; C-terminal leucine zipper domain of cyclic nucleotide-gated channels
    2. XM_006712243.2XP_006712306.1  cyclic nucleotide-gated cation channel alpha-3 isoform X2

      Conserved Domains (4) summary
      COG0664
      Location:513683
      Crp; cAMP-binding domain of CRP or a regulatory subunit of cAMP-dependent protein kinases [Signal transduction mechanisms]
      cd00038
      Location:519635
      CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...
      pfam00520
      Location:223447
      Ion_trans; Ion transport protein
      pfam16526
      Location:635705
      CLZ; C-terminal leucine zipper domain of cyclic nucleotide-gated channels
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