| Type |
Details |
Score |
| Gene |
| Type: |
gene |
| Organism: |
human |
|
•
•
•
•
•
|
| Gene |
| Type: |
gene |
| Organism: |
frog, western clawed |
|
•
•
•
•
•
|
| Gene |
|
•
•
•
•
•
|
| Gene |
| Type: |
gene |
| Organism: |
dog, domestic |
|
•
•
•
•
•
|
| Gene |
| Type: |
gene |
| Organism: |
chimpanzee |
|
•
•
•
•
•
|
| Gene |
| Type: |
gene |
| Organism: |
cattle |
|
•
•
•
•
•
|
| Gene |
| Type: |
gene |
| Organism: |
chicken |
|
•
•
•
•
•
|
| Gene |
| Type: |
gene |
| Organism: |
macaque, rhesus |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| Gene |
| Type: |
gene |
| Organism: |
human |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Kohl S |
| Year: |
2000 |
| Journal: |
Hum Mol Genet |
| Title: |
Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21. |
| Volume: |
9 |
| Issue: |
14 |
| Pages: |
2107-16 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Xu J |
| Year: |
2011 |
| Journal: |
Invest Ophthalmol Vis Sci |
| Title: |
Early-onset, slow progression of cone photoreceptor dysfunction and degeneration in CNG channel subunit CNGB3 deficiency. |
| Volume: |
52 |
| Issue: |
6 |
| Pages: |
3557-66 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Ding XQ |
| Year: |
2009 |
| Journal: |
Hum Mol Genet |
| Title: |
Impaired cone function and cone degeneration resulting from CNGB3 deficiency: down-regulation of CNGA3 biosynthesis as a potential mechanism. |
| Volume: |
18 |
| Issue: |
24 |
| Pages: |
4770-80 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Hassall MM |
| Year: |
2018 |
| Journal: |
Invest Ophthalmol Vis Sci |
| Title: |
A Novel Achromatopsia Mouse Model Resulting From a Naturally Occurring Missense Change in Cngb3. |
| Volume: |
59 |
| Issue: |
15 |
| Pages: |
6102-6110 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Marangoni D |
| Year: |
2015 |
| Journal: |
Invest Ophthalmol Vis Sci |
| Title: |
Intravitreal Ciliary Neurotrophic Factor Transiently Improves Cone-Mediated Function in a CNGB3-/- Mouse Model of Achromatopsia. |
| Volume: |
56 |
| Issue: |
11 |
| Pages: |
6810-22 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Gerstner A |
| Year: |
2000 |
| Journal: |
J Neurosci |
| Title: |
Molecular cloning and functional characterization of a new modulatory cyclic nucleotide-gated channel subunit from mouse retina. |
| Volume: |
20 |
| Issue: |
4 |
| Pages: |
1324-32 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Thapa A |
| Year: |
2012 |
| Journal: |
J Biol Chem |
| Title: |
Endoplasmic reticulum stress-associated cone photoreceptor degeneration in cyclic nucleotide-gated channel deficiency. |
| Volume: |
287 |
| Issue: |
22 |
| Pages: |
18018-29 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Ma H |
| Year: |
2013 |
| Journal: |
Hum Mol Genet |
| Title: |
Loss of cone cyclic nucleotide-gated channel leads to alterations in light response modulating system and cellular stress response pathways: a gene expression profiling study. |
| Volume: |
22 |
| Issue: |
19 |
| Pages: |
3906-19 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Ding XQ |
| Year: |
2016 |
| Journal: |
J Biol Chem |
| Title: |
The B3 Subunit of the Cone Cyclic Nucleotide-gated Channel Regulates the Light Responses of Cones and Contributes to the Channel Structural Flexibility. |
| Volume: |
291 |
| Issue: |
16 |
| Pages: |
8721-34 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Matveev AV |
| Year: |
2008 |
| Journal: |
J Neurochem |
| Title: |
Native cone photoreceptor cyclic nucleotide-gated channel is a heterotetrameric complex comprising both CNGA3 and CNGB3: a study using the cone-dominant retina of Nrl-/- mice. |
| Volume: |
106 |
| Issue: |
5 |
| Pages: |
2042-55 |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
Mus caroli |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
Mus pahari |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
Mus spretus |
|
•
•
•
•
•
|
| GXD Expression |
| Probe: |
MGI:7343620 |
| Assay Type: |
RT-PCR |
| Annotation Date: |
2022-10-05 |
| Strength: |
Present |
| Sex: |
Not Specified |
| Emaps: |
EMAPS:1716828 |
|
| Stage: |
TS28 |
| Assay Id: |
MGI:7343737 |
| Age: |
postnatal day 21 |
|
|
| Specimen Label: |
+/+ |
| Detected: |
true |
| Specimen Num: |
1 |
|
•
•
•
•
•
|
| GXD Expression |
| Probe: |
MGI:7343620 |
| Assay Type: |
RT-PCR |
| Annotation Date: |
2022-10-05 |
| Strength: |
Present |
| Sex: |
Not Specified |
| Emaps: |
EMAPS:1716828 |
|
| Stage: |
TS28 |
| Assay Id: |
MGI:7343737 |
| Age: |
postnatal day 21 |
|
|
| Specimen Label: |
sg/+ |
| Detected: |
true |
| Specimen Num: |
2 |
|
•
•
•
•
•
|
| GXD Expression |
| Probe: |
MGI:7343620 |
| Assay Type: |
RT-PCR |
| Annotation Date: |
2022-10-05 |
| Strength: |
Present |
| Sex: |
Not Specified |
| Emaps: |
EMAPS:1716828 |
|
| Stage: |
TS28 |
| Assay Id: |
MGI:7343737 |
| Age: |
postnatal day 21 |
|
|
| Specimen Label: |
sg/sg |
| Detected: |
true |
| Specimen Num: |
3 |
|
•
•
•
•
•
|
| GXD Expression |
| Probe: |
MGI:3834420 |
| Assay Type: |
RNA in situ |
| Annotation Date: |
2009-03-09 |
| Strength: |
Absent |
| Sex: |
Not Specified |
| Emaps: |
EMAPS:1716828 |
|
| Stage: |
TS28 |
| Assay Id: |
MGI:3834841 |
| Age: |
postnatal day 14 |
| Image: |
S1 wt |
|
| Specimen Label: |
S1 wt |
| Detected: |
false |
| Specimen Num: |
1 |
|
•
•
•
•
•
|
| GXD Expression |
| Probe: |
MGI:3834420 |
| Assay Type: |
RNA in situ |
| Annotation Date: |
2009-03-09 |
| Strength: |
Absent |
| Sex: |
Not Specified |
| Emaps: |
EMAPS:1716828 |
|
| Stage: |
TS28 |
| Assay Id: |
MGI:3834841 |
| Age: |
postnatal day 14 |
| Image: |
S1 Nr2e3-/- |
|
| Specimen Label: |
S1 Nr2e3-/- |
| Detected: |
false |
| Specimen Num: |
2 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Bareil C |
| Year: |
2001 |
| Journal: |
Hum Genet |
| Title: |
Segregation of a mutation in CNGB1 encoding the beta-subunit of the rod cGMP-gated channel in a family with autosomal recessive retinitis pigmentosa. |
| Volume: |
108 |
| Issue: |
4 |
| Pages: |
328-34 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Du W |
| Year: |
2015 |
| Journal: |
Hum Mol Genet |
| Title: |
Vitreal delivery of AAV vectored Cnga3 restores cone function in CNGA3-/-/Nrl-/- mice, an all-cone model of CNGA3 achromatopsia. |
| Volume: |
24 |
| Issue: |
13 |
| Pages: |
3699-707 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Yang F |
| Year: |
2016 |
| Journal: |
FASEB J |
| Title: |
Targeting iodothyronine deiodinases locally in the retina is a therapeutic strategy for retinal degeneration. |
| Volume: |
30 |
| Issue: |
12 |
| Pages: |
4313-4325 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Ma H |
| Year: |
2014 |
| Journal: |
Proc Natl Acad Sci U S A |
| Title: |
Suppressing thyroid hormone signaling preserves cone photoreceptors in mouse models of retinal degeneration. |
| Volume: |
111 |
| Issue: |
9 |
| Pages: |
3602-7 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Hüttl S |
| Year: |
2005 |
| Journal: |
J Neurosci |
| Title: |
Impaired channel targeting and retinal degeneration in mice lacking the cyclic nucleotide-gated channel subunit CNGB1. |
| Volume: |
25 |
| Issue: |
1 |
| Pages: |
130-8 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Ma H |
| Year: |
2017 |
| Journal: |
FASEB J |
| Title: |
Inhibition of thyroid hormone receptor locally in the retina is a therapeutic strategy for retinal degeneration. |
| Volume: |
31 |
| Issue: |
8 |
| Pages: |
3425-3438 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Yamada R |
| Year: |
2021 |
| Journal: |
Dis Model Mech |
| Title: |
MAB21L1 modulates gene expression and DNA metabolic processes in the lens placode. |
| Volume: |
14 |
| Issue: |
12 |
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Cisneros-Mejorado A |
| Year: |
2012 |
| Journal: |
FEBS Lett |
| Title: |
cGMP and cyclic nucleotide-gated channels participate in mouse sperm capacitation. |
| Volume: |
586 |
| Issue: |
2 |
| Pages: |
149-53 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Fujieda H |
| Year: |
2009 |
| Journal: |
J Neurochem |
| Title: |
Retinoic acid receptor-related orphan receptor alpha regulates a subset of cone genes during mouse retinal development. |
| Volume: |
108 |
| Issue: |
1 |
| Pages: |
91-101 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Corbo JC |
| Year: |
2005 |
| Journal: |
PLoS Genet |
| Title: |
A hybrid photoreceptor expressing both rod and cone genes in a mouse model of enhanced S-cone syndrome. |
| Volume: |
1 |
| Issue: |
2 |
| Pages: |
e11 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Collin GB |
| Year: |
2020 |
| Journal: |
Cells |
| Title: |
Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss. |
| Volume: |
9 |
| Issue: |
4 |
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Shanghai Model Organisms Center |
| Year: |
2017 |
| Journal: |
MGI Direct Data Submission |
| Title: |
Information obtained from the Shanghai Model Organisms Center (SMOC), Shanghai, China |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
MGI and IMPC |
| Year: |
2018 |
| Journal: |
Database Release |
| Title: |
MGI Load of Endonuclease-Mediated Alleles (CRISPR) from the International Mouse Phenotyping Consortium (IMPC) |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
The Gene Ontology Consortium |
| Year: |
2016 |
|
| Title: |
Automatic assignment of GO terms using logical inference, based on on inter-ontology links |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Wellcome Trust Sanger Institute |
| Year: |
2010 |
| Journal: |
MGI Direct Data Submission |
| Title: |
Alleles produced for the EUCOMM and EUCOMMTools projects by the Wellcome Trust Sanger Institute |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Mouse Genome Informatics and the International Mouse Phenotyping Consortium (IMPC) |
| Year: |
2014 |
| Journal: |
Database Release |
| Title: |
Obtaining and Loading Phenotype Annotations from the International Mouse Phenotyping Consortium (IMPC) Database |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Mouse Genome Informatics Scientific Curators |
| Year: |
2002 |
|
| Title: |
Chromosome assignment of mouse genes using the Mouse Genome Sequencing Consortium (MGSC) assembly and the ENSEMBL Database |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Adams DJ |
| Year: |
2024 |
| Journal: |
Nature |
| Title: |
Genetic determinants of micronucleus formation in vivo. |
| Volume: |
627 |
| Issue: |
8002 |
| Pages: |
130-136 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
MGD Nomenclature Committee |
| Year: |
1995 |
|
| Title: |
Nomenclature Committee Use |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
GemPharmatech |
| Year: |
2020 |
|
| Title: |
GemPharmatech Website. |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Skarnes WC |
| Year: |
2011 |
| Journal: |
Nature |
| Title: |
A conditional knockout resource for the genome-wide study of mouse gene function. |
| Volume: |
474 |
| Issue: |
7351 |
| Pages: |
337-42 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
UniProt-GOA |
| Year: |
2012 |
|
| Title: |
Gene Ontology annotation based on UniProtKB/Swiss-Prot keyword mapping |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
GOA curators |
| Year: |
2016 |
|
| Title: |
Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara |
|
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•
•
•
•
•
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| Publication |
| First Author: |
The Gene Ontology Consortium |
| Year: |
2010 |
|
| Title: |
Automated transfer of experimentally-verified manual GO annotation data to mouse-human orthologs |
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•
•
•
•
•
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| Publication |
| First Author: |
Diez-Roux G |
| Year: |
2011 |
| Journal: |
PLoS Biol |
| Title: |
A high-resolution anatomical atlas of the transcriptome in the mouse embryo. |
| Volume: |
9 |
| Issue: |
1 |
| Pages: |
e1000582 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
MGI Genome Annotation Group and UniGene Staff |
| Year: |
2015 |
| Journal: |
Database Download |
| Title: |
MGI-UniGene Interconnection Effort |
|
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•
•
•
•
•
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| Publication |
| First Author: |
Marc Feuermann, Huaiyu Mi, Pascale Gaudet, Dustin Ebert, Anushya Muruganujan, Paul Thomas |
| Year: |
2010 |
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| Title: |
Annotation inferences using phylogenetic trees |
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•
•
•
•
•
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| Publication |
| First Author: |
Mouse Genome Database and National Center for Biotechnology Information |
| Year: |
2000 |
| Journal: |
Database Release |
| Title: |
Entrez Gene Load |
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•
•
•
•
•
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| Publication |
| First Author: |
Allen Institute for Brain Science |
| Year: |
2004 |
| Journal: |
Allen Institute |
| Title: |
Allen Brain Atlas: mouse riboprobes |
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•
•
•
•
•
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| First Author: |
Mouse Genome Informatics Scientific Curators |
| Year: |
2009 |
| Journal: |
Database Download |
| Title: |
Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Gene 1.0 ST Array Platform |
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•
•
•
•
•
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| First Author: |
Mouse Genome Informatics (MGI) and The National Center for Biotechnology Information (NCBI) |
| Year: |
2010 |
| Journal: |
Database Download |
| Title: |
Consensus CDS project |
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•
•
•
•
•
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| Publication |
| First Author: |
Mouse Genome Informatics Group |
| Year: |
2003 |
| Journal: |
Database Procedure |
| Title: |
Automatic Encodes (AutoE) Reference |
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|
•
•
•
•
•
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| Publication |
| First Author: |
Bairoch A |
| Year: |
1999 |
| Journal: |
Database Release |
| Title: |
SWISS-PROT Annotated protein sequence database |
|
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|
•
•
•
•
•
|
| Publication |
| First Author: |
Mouse Genome Informatics Scientific Curators |
| Year: |
2005 |
|
| Title: |
Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Mouse Genome Informatics |
| Year: |
2010 |
| Journal: |
Database Release |
| Title: |
Protein Ontology Association Load. |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Mouse Genome Informatics Scientific Curators |
| Year: |
2005 |
|
| Title: |
Obtaining and loading genome assembly coordinates from NCBI annotations |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Mouse Genome Informatics Scientific Curators |
| Year: |
2009 |
| Journal: |
Database Download |
| Title: |
Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome 430 2.0 Array Platform |
|
|
|
|
•
•
•
•
•
|
| Allele |
| Name: |
cyclic nucleotide gated channel beta 3; endonuclease-mediated mutation 1, Shanghai Model Organisms Center |
| Allele Type: |
Endonuclease-mediated |
| Attribute String: |
Null/knockout |
|
•
•
•
•
•
|
| Strain |
| Attribute String: |
coisogenic, mutant strain, endonuclease-mediated mutation |
|
•
•
•
•
•
|
| Allele |
| Name: |
cyclic nucleotide gated channel beta 3; targeted mutation 1, Deltagen |
| Allele Type: |
Targeted |
| Attribute String: |
Null/knockout |
|
•
•
•
•
•
|
| Allele |
| Name: |
cyclic nucleotide gated channel beta 3; cone photoreceptor function loss 10 |
| Allele Type: |
Spontaneous |
| Attribute String: |
Not Specified |
|
•
•
•
•
•
|
| Genotype |
| Symbol: |
Cngb3/Cngb3 |
| Background: |
involves: C57BL/6 |
| Zygosity: |
hm |
| Has Mutant Allele: |
true |
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| DO Term |
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| Genotype |
| Symbol: |
Cngb3/Cngb3 |
| Background: |
involves: 129S6/SvEvTac * C57BL/6J |
| Zygosity: |
hm |
| Has Mutant Allele: |
true |
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| HT Experiment |
| Series Id: |
GSE40982 |
| Experiment Type: |
transcription profiling by array |
| Study Type: |
WT vs. Mutant |
| Source: |
ArrayExpress |
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| Protein Domain |
| Type: |
Family |
| Description: |
Cyclic nucleotide-gated cation channel beta-3 (CNGB3, also known as CNG6) is a beta subunit of the cyclic nucleotide-gated (CNG) channel. CNG channels control the influx of Ca2+ and Na+ in response to signal-induced changes of cGMP or cAMP levels. They play a key role in olfactory and visual transduction []. Mutations in the CNGB3 gene have been linked to achromatopsia (rod monochromacy, total colour blindness) []. |
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| Publication |
| First Author: |
Yang F |
| Year: |
2020 |
| Journal: |
FASEB J |
| Title: |
Potential contribution of ryanodine receptor 2 upregulation to cGMP/PKG signaling-induced cone degeneration in cyclic nucleotide-gated channel deficiency. |
| Volume: |
34 |
| Issue: |
5 |
| Pages: |
6335-6350 |
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| Publication |
| First Author: |
Ma H |
| Year: |
2015 |
| Journal: |
J Biol Chem |
| 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. |
| Volume: |
290 |
| Issue: |
34 |
| Pages: |
20880-92 |
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| Publication |
| First Author: |
Ma H |
| Year: |
2019 |
| Journal: |
eNeuro |
| Title: |
Ryanodine Receptor 2 Contributes to Impaired Protein Localization in Cyclic Nucleotide-Gated Channel Deficiency. |
| Volume: |
6 |
| Issue: |
3 |
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| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
694
 |
| Fragment?: |
false |
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