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

Gene ID: 54714, updated on 11-Sep-2014
Official Symbol
CNGB3provided by HGNC
Official Full Name
cyclic nucleotide gated channel beta 3provided by HGNC
Primary source
HGNC:HGNC:2153
See related
Ensembl:ENSG00000170289; HPRD:05468; MIM:605080; Vega:OTTHUMG00000163738
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]
See CNGB3 in Epigenomics, MapViewer
Location:
8q21.3
Exon count:
18
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 8 NC_000008.11 (86573935..86743675, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (87586163..87755903, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene solute carrier family 2 (facilitated glucose transporter), member 3 pseudogene 4 Neighboring gene regulator of microtubule dynamics 1 Neighboring gene copine III Neighboring gene myo-inositol oxygenase pseudogene 1 Neighboring gene ubiquitin-conjugating enzyme E2Q family member 2 pseudogene 10 Neighboring gene golgin A2 pseudogene 1 Neighboring gene cyclic nucleotide binding domain containing 1 Neighboring gene vesicle (multivesicular body) trafficking 1 pseudogene 2

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • 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...

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cGMP binding IBA
Inferred from Biological aspect of Ancestor
more info
 
cGMP binding IDA
Inferred from Direct Assay
more info
 
intracellular cAMP activated cation channel activity IBA
Inferred from Biological aspect of Ancestor
more info
 
intracellular cGMP activated cation channel activity IBA
Inferred from Biological aspect of Ancestor
more info
 
intracellular cGMP activated cation channel activity IDA
Inferred from Direct Assay
more info
 
voltage-gated potassium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
 
Process Evidence Code Pubs
cation transport IDA
Inferred from Direct Assay
more info
 
phototransduction, visible light IBA
Inferred from Biological aspect of Ancestor
more info
 
potassium ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
 
regulation of membrane potential IBA
Inferred from Biological aspect of Ancestor
more info
 
signal transduction NAS
Non-traceable Author Statement
more info
PubMed 
transport NAS
Non-traceable Author Statement
more info
PubMed 
visual perception IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
photoreceptor outer segment IEA
Inferred from Electronic Annotation
more info
 
transmembrane transporter complex IDA
Inferred from Direct Assay
more info
 
Preferred Names
cyclic nucleotide-gated cation channel beta-3
Names
cyclic nucleotide-gated cation channel beta-3
CNG channel beta-3
cone photoreceptor cGMP-gated cation channel beta-subunit
cyclic nucleotide-gated cation channel modulatory subunit

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 

    Range
    5001..174741
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_019098.4NP_061971.3  cyclic nucleotide-gated cation channel beta-3

    See proteins identical to NP_061971.3

    Status: REVIEWED

    Source sequence(s)
    AF228520, AF272900, AL713036, BX118844
    Consensus CDS
    CCDS6244.1
    UniProtKB/Swiss-Prot
    Q9NQW8
    Related
    ENSP00000316605, OTTHUMP00000224709, ENST00000320005, OTTHUMT00000375107
    Conserved Domains (3) summary
    COG0664
    Location:521648
    Crp; cAMP-binding proteins - catabolite gene activator and 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:255441
    Ion_trans; Ion transport protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000008.11 

    Range
    86573935..86743675
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006716593.1XP_006716656.1  

    Conserved Domains (4) summary
    COG0664
    Location:383505
    Crp; cAMP-binding proteins - catabolite gene activator and regulatory subunit of cAMP-dependent protein kinases [Signal transduction mechanisms]
    cd00038
    Location:386496
    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:117303
    Ion_trans; Ion transport protein
    pfam05672
    Location:524623
    MAP7; MAP7 (E-MAP-115) family

Alternate HuRef

Genomic

  1. AC_000140.1 

    Range
    82795582..82965151
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018919.2 

    Range
    87627665..87797926
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)