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    CNGB3 cyclic nucleotide gated channel subunit beta 3 [ Homo sapiens (human) ]

    Gene ID: 54714, updated on 5-May-2024

    Summary

    Official Symbol
    CNGB3provided by HGNC
    Official Full Name
    cyclic nucleotide gated channel subunit beta 3provided by HGNC
    Primary source
    HGNC:HGNC:2153
    See related
    Ensembl:ENSG00000170289 MIM:605080; AllianceGenome:HGNC:2153
    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
    ACHM1
    Summary
    This gene encodes the beta subunit of a cyclic nucleotide-gated ion channel. The encoded beta subunit appears to play a role in modulation of channel function in cone photoreceptors. This heterotetrameric channel is necessary for sensory transduction, and mutations in this gene have been associated with achromatopsia 3, progressive cone dystrophy, and juvenile macular degeneration, also known as Stargardt Disease. [provided by RefSeq, Feb 2010]
    Expression
    Biased expression in testis (RPKM 1.1), endometrium (RPKM 0.1) and 1 other tissue See more
    Orthologs
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    Genomic context

    Location:
    8q21.3
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (86574179..86743634, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (87694425..87863851, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (87586407..87755862, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27596 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19342 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19343 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27597 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27598 Neighboring gene solute carrier family 2 member 3 pseudogene 4 Neighboring gene regulator of microtubule dynamics 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:87604292-87604850 Neighboring gene copine 3 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:87669862-87670033 Neighboring gene myo-inositol oxygenase pseudogene 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:87706251-87706896 Neighboring gene UBE2Q2 pseudogene 10 Neighboring gene GOLGA2 pseudogene 1 Neighboring gene uncharacterized LOC107986895 Neighboring gene cyclic nucleotide binding domain containing 1 Neighboring gene NANOG hESC enhancer GRCh37_chr8:87980781-87981282 Neighboring gene NANOG hESC enhancer GRCh37_chr8:88152834-88153335 Neighboring gene NANOG hESC enhancer GRCh37_chr8:88208643-88209144 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:88354821-88355336 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:88437867-88438368

    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 Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cGMP binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables cGMP binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables intracellularly cAMP-activated cation channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables intracellularly cAMP-activated cation channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables intracellularly cGMP-activated cation channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables intracellularly cGMP-activated cation channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein-containing complex binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    involved_in monoatomic cation transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in monoatomic cation transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in signal transduction NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in visual perception IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    part_of intracellular cyclic nucleotide activated cation channel complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in photoreceptor outer segment IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of transmembrane transporter complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_016980.1 RefSeqGene

      Range
      5042..174497
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_019098.5NP_061971.3  cyclic nucleotide-gated cation channel beta-3

      See identical proteins and their annotated locations for NP_061971.3

      Status: REVIEWED

      Source sequence(s)
      AF228520, AF272900, BX118844
      Consensus CDS
      CCDS6244.1
      UniProtKB/Swiss-Prot
      C9JA51, Q9NQW8, Q9NRE9
      UniProtKB/TrEMBL
      B9EK43
      Related
      ENSP00000316605.5, ENST00000320005.6
      Conserved Domains (3) summary
      COG0664
      Location:521648
      Crp; cAMP-binding domain of CRP or a regulatory subunit of cAMP-dependent protein kinases [Signal transduction mechanisms]
      cd00038
      Location:524639
      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:238453
      Ion_trans; Ion transport protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      86574179..86743634 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011517138.3XP_011515440.1  cyclic nucleotide-gated cation channel beta-3 isoform X1

      UniProtKB/TrEMBL
      B9EK43
      Conserved Domains (3) summary
      COG0664
      Location:383510
      Crp; cAMP-binding domain of CRP or a regulatory subunit of cAMP-dependent protein kinases [Signal transduction mechanisms]
      cd00038
      Location:386501
      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:100315
      Ion_trans; Ion transport protein

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      87694425..87863851 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054360722.1XP_054216697.1  cyclic nucleotide-gated cation channel beta-3 isoform X1