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

Gene ID: 1261, updated on 12-Aug-2018

Summary

Official Symbol
CNGA3provided by HGNC
Official Full Name
cyclic nucleotide gated channel alpha 3provided by HGNC
Primary source
HGNC:HGNC:2150
See related
Ensembl:ENSG00000144191 MIM:600053; Vega:OTTHUMG00000130561
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 current GRCh38.p12 (GCF_000001405.38) 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 Jun 15 11:32:44 2016

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
 
potassium ion transmembrane transport 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
 
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

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_001079878.1NP_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, OTTHUMP00000203132, ENST00000436404.6, OTTHUMT00000329557
    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 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_000002.12 Reference GRCh38.p12 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, OTTHUMP00000203133, ENST00000409937.1, OTTHUMT00000329558
    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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