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

Gene ID: 54714, updated on 2-Oct-2018

Summary

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 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]
Expression
Biased expression in testis (RPKM 1.1), endometrium (RPKM 0.1) and 1 other tissue See more
Orthologs

Genomic context

See CNGB3 in Genome Data Viewer
Location:
8q21.3
Exon count:
19
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 8 NC_000008.11 (86573608..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 member 3 pseudogene 4 Neighboring gene regulator of microtubule dynamics 1 Neighboring gene copine 3 Neighboring gene myo-inositol oxygenase pseudogene 1 Neighboring gene ubiquitin conjugating enzyme E2 Q2 pseudogene 10 Neighboring gene GOLGA2 pseudogene 1 Neighboring gene uncharacterized LOC107986895 Neighboring gene cyclic nucleotide binding domain containing 1

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • 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 IDA
Inferred from Direct Assay
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 IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
cation transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
cation transport IDA
Inferred from Direct Assay
more info
PubMed 
signal transduction NAS
Non-traceable Author Statement
more info
PubMed 
visual perception IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
photoreceptor outer segment 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 beta-3
Names
CNG channel beta-3
cone photoreceptor cGMP-gated cation channel beta-subunit
cyclic nucleotide-gated cation channel modulatory subunit

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_016980.1 RefSeqGene

    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 identical proteins and their annotated locations for NP_061971.3

    Status: REVIEWED

    Source sequence(s)
    AF228520, AF272900, AL713036, BX118844
    Consensus CDS
    CCDS6244.1
    UniProtKB/Swiss-Prot
    Q9NQW8
    Related
    ENSP00000316605.5, OTTHUMP00000224709, ENST00000320005.5, OTTHUMT00000375107
    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: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p12 Primary Assembly

    Range
    86573608..86743675 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011517138.2XP_011515440.1  cyclic nucleotide-gated cation channel beta-3 isoform X1

    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
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