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

Summary

Official Symbol: CNGB3provided by HGNC
Official Full Name: cyclic nucleotide gated channel subunit beta 3provided by HGNC
Primary source: HGNC:HGNC:2153
See related: Ensembl:ENSG00000170289 MIM:605080; AllianceGenome:HGNC:2153
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: mouse all
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Genomic context

Location:: 8q21.3

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (86574179..86743634, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (87694425..87863851, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (87586407..87755862, complement)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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 Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Absent meibomian glands and cone dystrophy in ADULT syndrome: identification by whole exome sequencing of pathogenic variants in two causal genes TP63 and CNGB3.
Title: Absent meibomian glands and cone dystrophy in ADULT syndrome: identification by whole exome sequencing of pathogenic variants in two causal genes TP63 and CNGB3.
Molecular and Clinical Characterization of CNGA3 and CNGB3 Genes in Brazilian Patients Affected with Achromatopsia.
Title: Molecular and Clinical Characterization of CNGA3 and CNGB3 Genes in Brazilian Patients Affected with Achromatopsia.
A deep intronic substitution in CNGB3 is one of the major causes of achromatopsia among Jewish patients.
Title: A deep intronic substitution in CNGB3 is one of the major causes of achromatopsia among Jewish patients.
Disease Progression in CNGA3 and CNGB3 Retinopathy; Characteristics of Slovenian Cohort and Proposed OCT Staging Based on Pooled Data from 126 Patients from 7 Studies.
Title: Disease Progression in CNGA3 and CNGB3 Retinopathy; Characteristics of Slovenian Cohort and Proposed OCT Staging Based on Pooled Data from 126 Patients from 7 Studies.
Nystagmus and optical coherence tomography findings in CNGB3-associated achromatopsia.
Title: Nystagmus and optical coherence tomography findings in CNGB3-associated achromatopsia.
Ametropia and Emmetropization in CNGB3 Achromatopsia.
Title: Ametropia and Emmetropization in CNGB3 Achromatopsia.
Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activation.
Title: Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activation.
Identification of disease-causing mutations in CNGB3 in achromatopsia
Title: Molecular genetic cause of achromatopsia in two patients of Czech origin.
The results of this study do not support the hypothesis that the focal chorioretinitis seen with high doses of AAV5-PR2.1-hCNGB3 in the initial studies was due to an immune response to human CNGB3.
Title: Safety and Efficacy of AAV5 Vectors Expressing Human or Canine CNGB3 in CNGB3-Mutant Dogs.
a comprehensive view on the spectrum and prevalence of CNGB3 mutations in achromatopsia patients.
Title: CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients.

Submit: New GeneRIF Correction See all GeneRIFs (42)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Achromatopsia 3 MedGen: C1849792 OMIM: 262300 GeneReviews: Achromatopsia	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH66511 (e-PCR)
- UniSTS:76645

RH66512 (e-PCR)
- UniSTS:21109

D8S167 (e-PCR)
- UniSTS:80809

G17220 (e-PCR)
- UniSTS:21993

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cGMP binding	IBA Inferred from Biological aspect of Ancestor more info
enables cGMP binding	IDA Inferred from Direct Assay more info	PubMed
enables intracellularly cAMP-activated cation channel activity	IBA Inferred from Biological aspect of Ancestor 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	IDA Inferred from Direct Assay more info	PubMed
enables protein-containing complex binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in monoatomic cation transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in monoatomic cation transport	IDA Inferred from Direct Assay more info	PubMed
involved_in signal transduction	NAS Non-traceable Author Statement more info	PubMed
involved_in visual perception	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of intracellular cyclic nucleotide activated cation channel complex	IBA Inferred from Biological aspect of Ancestor more info
is_active_in photoreceptor outer segment	IBA Inferred from Biological aspect of Ancestor more info
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
part_of transmembrane transporter complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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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 channel beta 3; cyclic nucleotide-gated cation channel modulatory subunit

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.

Genomic

NG_016980.1 RefSeqGene

Range

5042..174497

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_019098.5 → NP_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, BX118844

Consensus CDS

CCDS6244.1

UniProtKB/Swiss-Prot

C9JA51, Q9NQW8, Q9NRE9

UniProtKB/TrEMBL

B9EK43

Related

ENSP00000316605.5, ENST00000320005.6

Conserved Domains (3) summary

COG0664
Location:521 → 648

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

cd00038
Location:524 → 639

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:238 → 453

Ion_trans; Ion transport protein

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000008.11 Reference GRCh38.p14 Primary Assembly

Range

86574179..86743634 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

B9EK43

Conserved Domains (3) summary

COG0664
Location:383 → 510

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

cd00038
Location:386 → 501

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:100 → 315

Ion_trans; Ion transport protein