Cngb1 cyclic nucleotide gated channel beta 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Cngb1provided by MGI
Official Full Name: cyclic nucleotide gated channel beta 1provided by MGI
Primary source: MGI:MGI:2664102
See related: Ensembl:ENSMUSG00000031789 AllianceGenome:MGI:2664102
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: CNG4; CNG-4; Garp2; Cngb1b; Gm1959
Summary: Enables cyclic nucleotide-activated monoatomic ion channel activity. Acts upstream of or within several processes, including photoreceptor cell maintenance; photoreceptor cell outer segment organization; and sensory perception of smell. Located in membrane and photoreceptor outer segment. Is expressed in several structures, including head mesenchyme; incisor; limb; sensory organ; and skeleton. Used to study retinitis pigmentosa. Human ortholog(s) of this gene implicated in retinitis pigmentosa and retinitis pigmentosa 45. Orthologous to human CNGB1 (cyclic nucleotide gated channel subunit beta 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Low expression observed in reference dataset See more
Orthologs: human all
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Genomic context

Location:: 8 C5; 8 47.12 cM

Exon count:: 36

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	8	NC_000074.7 (95965671..96033213, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	8	NC_000074.6 (95239043..95306585, complement)

Chromosome 8 - NC_000074.7 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?

The GARP Domain of the Rod CNG Channel's beta1-Subunit Contains Distinct Sites for Outer Segment Targeting and Connecting to the Photoreceptor Disk Rim.
Title: The GARP Domain of the Rod CNG Channel's β1-Subunit Contains Distinct Sites for Outer Segment Targeting and Connecting to the Photoreceptor Disk Rim.
Patients and animal models of CNGbeta1-deficient retinitis pigmentosa support gene augmentation approach.
Title: Patients and animal models of CNGβ1-deficient retinitis pigmentosa support gene augmentation approach.
Retinal degeneration was slowed down in Cngb1/Pde6b double knock-out mice due to lowering of cGMP content in the retinas, and suggests that it may be caused by mislocalization of active Pde6b.
Title: The PDE6 mutation in the rd10 retinal degeneration mouse model causes protein mislocalization and instability and promotes cell death through increased ion influx.
olfactory sensory neurons in NCKX4(-/-);CNGB1(DeltaCaM) mice displayed markedly reduced electro-olfactogram amplitude accompanied by alterations in other response attributes
Title: Simultaneous Loss of NCKX4 and CNG Channel Desensitization Impairs Olfactory Sensitivity.
Overexpression of rod photoreceptor glutamic acid rich protein 2 (GARP2) increases gain and slows recovery in mouse retina
Title: Overexpression of rod photoreceptor glutamic acid rich protein 2 (GARP2) increases gain and slows recovery in mouse retina.
Eliminating Cngb1 and reducing RDS leads to additive defects in RDS expression levels and rod electroretinogram (ERG) function, (e.g., Cngb1-/-/rds+/- versus rds+/- or Cngb1-/-) but not to additive defects in rod ultrastructure.
Title: Role of RDS and Rhodopsin in Cngb1-Related Retinal Degeneration.
Peripherin-2 links CNGB1 to the light-detector rhodopsin in outer segments of rod photoreceptors.
Title: Peripherin-2 couples rhodopsin to the CNG channel in outer segments of rod photoreceptors.
These results confirm that rods are marginally functional in the absence of the beta-subunit and in addition show that CFF (critical flicker frequency)may be a more sensitive measure of remaining functional cone vision
Title: Age-related changes in Cngb1-X1 knockout mice: prolonged cone survival.
In Cngb1(-/-) x rd1 double mutants, cGMP levels are high, but rod photoreceptor viability and outer segment morphology are improved.
Title: A key role for cyclic nucleotide gated (CNG) channels in cGMP-related retinitis pigmentosa.
Deletion of the cyclic nucleotide gated channel CNGB1 alters response waveform but leaves light adaptation intact.
Title: Channel modulation and the mechanism of light adaptation in mouse rods.

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Variation

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Alleles

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

Chemically induced (ENU) (1)
Endonuclease-mediated (3)
Targeted (5) 1 citation

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables cAMP binding	ISO Inferred from Sequence Orthology more info
enables cGMP binding	IBA Inferred from Biological aspect of Ancestor more info
enables cGMP binding	ISO Inferred from Sequence Orthology more info
enables cyclic nucleotide-activated monoatomic ion channel activity	IMP Inferred from Mutant Phenotype 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	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 protein-containing complex binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein-containing complex binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in detection of light stimulus involved in visual perception	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
acts_upstream_of_or_within photoreceptor cell maintenance	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within photoreceptor cell outer segment organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within phototransduction	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within protein localization to organelle	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of cytosolic calcium ion concentration	ISO Inferred from Sequence Orthology more info
involved_in retina homeostasis	IBA Inferred from Biological aspect of Ancestor more info
involved_in retina homeostasis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within sensory perception of smell	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of intracellular cyclic nucleotide activated cation channel complex	IBA Inferred from Biological aspect of Ancestor more info
part_of intracellular cyclic nucleotide activated cation channel complex	ISO Inferred from Sequence Orthology more info
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in photoreceptor outer segment	IBA Inferred from Biological aspect of Ancestor more info
located_in photoreceptor outer segment	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in terminal bouton	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 channel beta-1; cyclic nucleotide-gated cation channel beta-1

Names: CNG channel 4; cyclic nucleotide-gated cation channel 4; cyclic nucleotide-gated channel beta subunit 1

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_001195413.1 → NP_001182342.1 cyclic nucleotide-gated channel beta-1 isoform 1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AC102518, BC016201, BC045114, BC046523

Consensus CDS

CCDS72151.1

UniProtKB/Swiss-Prot

E1AZ71

Related

ENSMUSP00000113827.3, ENSMUST00000119870.9

Conserved Domains (3) summary

COG0664
Location:1032 → 1165

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

cd00038
Location:1038 → 1147

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:756 → 957

Ion_trans; Ion transport protein
NM_145601.1 → NP_663576.1 cyclic nucleotide-gated channel beta-1 isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (2) has a distinct C-terminus and is shorter than isoform 1.

Source sequence(s)

BC016201

Consensus CDS

CCDS52641.1

UniProtKB/TrEMBL

Q91WA8

Related

ENSMUSP00000090956.5, ENSMUST00000093268.5

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_000074.7 Reference GRCm39 C57BL/6J

Range

95965671..96033213 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006531140.4 → XP_006531203.1 cyclic nucleotide-gated cation channel beta-1 isoform X1

UniProtKB/TrEMBL

E9PXX0, Q80XL8

Related

ENSMUSP00000113750.3, ENSMUST00000120044.9

Conserved Domains (2) summary

PLN03192
Location:265 → 651

PLN03192; Voltage-dependent potassium channel; Provisional

cd00038
Location:579 → 688

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 ...
XM_036154139.1 → XP_036010032.1 cyclic nucleotide-gated cation channel beta-1 isoform X2

Conserved Domains (2) summary

PLN03192
Location:75 → 461

PLN03192; Voltage-dependent potassium channel; Provisional

cd00038
Location:389 → 498

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 ...