Cnga3 cyclic nucleotide gated channel alpha 3 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Cnga3provided by MGI
Official Full Name: cyclic nucleotide gated channel alpha 3provided by MGI
Primary source: MGI:MGI:1341818
See related: Ensembl:ENSMUSG00000026114 AllianceGenome:MGI:1341818
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: CNG3; CNG-3
Summary: Enables intracellular cyclic nucleotide activated cation channel activity. Acts upstream of or within retinal cone cell development. Located in photoreceptor outer segment and plasma membrane. Is expressed in eye; gut; and male reproductive gland or organ. Used to study achromatopsia 2. Human ortholog(s) of this gene implicated in achromatopsia 2 and color blindness. Orthologous to human CNGA3 (cyclic nucleotide gated channel subunit alpha 3). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Low expression observed in reference dataset See more
Orthologs: human all
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Genomic context

Location:: 1 B; 1 15.46 cM

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	1	NC_000067.7 (37257317..37302465)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	1	NC_000067.6 (37218241..37263384)

Chromosome 1 - NC_000067.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

CNGA3 acts as a cold sensor in hypothalamic neurons.
Title: CNGA3 acts as a cold sensor in hypothalamic neurons.
Ryanodine Receptor 2 Contributes to Impaired Protein Localization in Cyclic Nucleotide-Gated Channel Deficiency. Work demonstrates a role of RyR2/ER calcium dysregulation in protein mislocalization, ER stress, and cone death.
Title: Ryanodine Receptor 2 Contributes to Impaired Protein Localization in Cyclic Nucleotide-Gated Channel Deficiency.
Accessory heterozygous mutations in cone photoreceptor CNGA3 exacerbate CNG channel-associated retinopathy.
Title: Accessory heterozygous mutations in cone photoreceptor CNGA3 exacerbate CNG channel-associated retinopathy.
AAV8 with capsid Y-F and T-V mutations may be one of the most effective AAV vectors for long-term treatment in a naturally occurring mouse model of CNGA3 achromatopsia
Title: Long-term retinal cone rescue using a capsid mutant AAV8 vector in a mouse model of CNGA3-achromatopsia.
CNGA3 expression restored cone function in in CNGA3-/-/Nrl-/- mice, an all-cone model of CNGA3 achromatopsia.
Title: Vitreal delivery of AAV vectored Cnga3 restores cone function in CNGA3-/-/Nrl-/- mice, an all-cone model of CNGA3 achromatopsia.
cGMP/protein kinase G signaling suppresses Itpr1 phosphorylation and promotes endoplasmic reticulum stress in photoreceptors of Cnga3-deficient mice.
Title: cGMP/Protein Kinase G Signaling Suppresses Inositol 1,4,5-Trisphosphate Receptor Phosphorylation and Promotes Endoplasmic Reticulum Stress in Photoreceptors of Cyclic Nucleotide-gated Channel-deficient Mice.
Homologous to the human disease, CNGA3 deficient mice reveal a loss of cone specific functionality leading to degeneration of affected cone photoreceptors. (review)
Title: [Gene replacement therapy in achromatopsia type 2].
This work investigated the functional modulation of cone CNG channel by exploring the channel-interacting proteins.
Title: Exploration of cone cyclic nucleotide-gated channel-interacting proteins using affinity purification and mass spectrometry.
The results of this study indicated that cGMP accumulation in photoreceptors can itself exert cytotoxic effect in cones, independently of CNG channel activity and Ca(2+) influx.
Title: cGMP accumulation causes photoreceptor degeneration in CNG channel deficiency: evidence of cGMP cytotoxicity independently of enhanced CNG channel function.
observed a nuclear translocation of apoptosis-inducing factor (AIF) and endonuclease G in CNGA3(-/-)/Nrl(-/-) and CNGB3(-/-)/Nrl(-/-) retinas, implying a mitochondrial insult in the endoplasmic reticulum stress-activated cell death process
Title: Endoplasmic reticulum stress-associated cone photoreceptor degeneration in cyclic nucleotide-gated channel deficiency.

Submit: New GeneRIF Correction See all GeneRIFs (21)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Spontaneous (1)
Targeted (3) 1 citation
Endonuclease-mediated (4)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables cGMP binding	IBA Inferred from Biological aspect of Ancestor more info
enables cGMP binding	ISO Inferred from Sequence Orthology more info
enables cadherin binding	ISO Inferred from Sequence Orthology more info
enables intracellularly cAMP-activated cation channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables intracellularly cAMP-activated cation channel activity	ISO Inferred from Sequence Orthology more info
enables intracellularly cGMP-activated cation channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables intracellularly cGMP-activated cation channel activity	ISO Inferred from Sequence Orthology more info
enables intracellularly cyclic nucleotide-activated monoatomic cation channel activity	IPI Inferred from Physical Interaction more info	PubMed
enables monoatomic ion channel activity	IEA Inferred from Electronic Annotation more info
enables myosin binding	ISO Inferred from Sequence Orthology more info
enables nucleotide binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-containing complex binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in inorganic cation import across plasma membrane	ISO Inferred from Sequence Orthology more info
involved_in monoatomic cation transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in monoatomic cation transport	ISO Inferred from Sequence Orthology more info
involved_in monoatomic ion transmembrane transport	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within monoatomic ion transport	IEA Inferred from Electronic Annotation more info
involved_in monoatomic ion transport	IEA Inferred from Electronic Annotation more info
involved_in response to cAMP	ISO Inferred from Sequence Orthology more info
involved_in response to magnesium ion	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within response to stimulus	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within retina development in camera-type eye	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within retinal cone cell development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in transmembrane transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within visual perception	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in axon initial segment	ISO Inferred from Sequence Orthology more info
located_in cone photoreceptor outer segment	IDA Inferred from Direct Assay more info	PubMed
located_in dendrite	ISO Inferred from Sequence Orthology more info
located_in glial cell projection	ISO Inferred from Sequence Orthology more info
part_of intracellular cyclic nucleotide activated cation channel complex	IBA Inferred from Biological aspect of Ancestor more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in neuronal cell body	ISO Inferred from Sequence Orthology more info
located_in perikaryon	ISO Inferred from Sequence Orthology more info
located_in photoreceptor outer segment	IDA Inferred from Direct Assay more info	PubMed
located_in photoreceptor outer segment	ISO Inferred from Sequence Orthology more info	PubMed
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
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
part_of transmembrane transporter complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: cyclic nucleotide-gated cation channel alpha-3

Names: CNG channel alpha-3; cone photoreceptor cGMP-gated channel subunit alpha; cyclic nucleotide-gated channel subunit alpha 3

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

NM_001282010.2 → NP_001268939.1 cyclic nucleotide-gated cation channel alpha-3 isoform 1

Status: VALIDATED

Source sequence(s)

AC133096

Consensus CDS

CCDS78566.1

UniProtKB/TrEMBL

A0A0A6YXW9

Related

ENSMUSP00000142175.2, ENSMUST00000195272.6

Conserved Domains (5) summary

COG0664
Location:455 → 577

Crp; cAMP-binding domain of CRP or a regulatory subunit of cAMP-dependent protein kinases [Signal transduction mechanisms]

cd00038
Location:461 → 577

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:165 → 387

Ion_trans; Ion transport protein

pfam16526
Location:577 → 647

CLZ; C-terminal leucine zipper domain of cyclic nucleotide-gated channels

cl18962
Location:422 → 475

Radical_SAM; Radical SAM superfamily. Enzymes of this family generate radicals by combining a 4Fe-4S cluster and S-adenosylmethionine (SAM) in close proximity. They are characterized by a conserved CxxxCxxC motif, which coordinates the conserved iron-sulfur cluster. ...
NM_001420073.1 → NP_001407002.1 cyclic nucleotide-gated cation channel alpha-3 isoform 3

Status: VALIDATED

Source sequence(s)

AC133096

UniProtKB/TrEMBL

A0A6H2E2T0
NM_001420074.1 → NP_001407003.1 cyclic nucleotide-gated cation channel alpha-3 isoform 4

Status: VALIDATED

Source sequence(s)

AC133096
NM_009918.3 → NP_034048.1 cyclic nucleotide-gated cation channel alpha-3 isoform 2

See identical proteins and their annotated locations for NP_034048.1

Status: VALIDATED

Source sequence(s)

AC133096

Consensus CDS

CCDS14890.1

UniProtKB/Swiss-Prot

Q8CFV6, Q9JJZ8, Q9WV01

Related

ENSMUSP00000027288.8, ENSMUST00000027288.10

Conserved Domains (3) summary

cd00038
Location:423 → 539

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:109 → 349

Ion_trans; Ion transport protein

pfam16526
Location:539 → 608

CLZ; C-terminal leucine zipper domain of cyclic nucleotide-gated channels

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000067.7 Reference GRCm39 C57BL/6J

Range

37257317..37302465

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017313745.3 → XP_017169234.1 cyclic nucleotide-gated cation channel alpha-3 isoform X1

UniProtKB/Swiss-Prot

Q8CFV6, Q9JJZ8, Q9WV01

Related

ENSMUSP00000142075.2, ENSMUST00000194195.6

Conserved Domains (3) summary

cd00038
Location:423 → 539

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:109 → 349

Ion_trans; Ion transport protein

pfam16526
Location:539 → 608

CLZ; C-terminal leucine zipper domain of cyclic nucleotide-gated channels
XM_017313748.3 → XP_017169237.1 cyclic nucleotide-gated cation channel alpha-3 isoform X2

UniProtKB/TrEMBL

A0A6H2E2T0

Conserved Domains (3) summary

cd00038
Location:422 → 538

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:108 → 348

Ion_trans; Ion transport protein

pfam16526
Location:538 → 607

CLZ; C-terminal leucine zipper domain of cyclic nucleotide-gated channels
XM_036157115.1 → XP_036013008.1 cyclic nucleotide-gated cation channel alpha-3 isoform X1

UniProtKB/Swiss-Prot

Q8CFV6, Q9JJZ8, Q9WV01

Conserved Domains (3) summary

cd00038
Location:423 → 539

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:109 → 349

Ion_trans; Ion transport protein

pfam16526
Location:539 → 608

CLZ; C-terminal leucine zipper domain of cyclic nucleotide-gated channels