Cngb3 (cyclic nucleotide gated channel beta 3) - Rat Genome Database

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Gene: Cngb3 (cyclic nucleotide gated channel beta 3) Mus musculus
Analyze
Symbol: Cngb3
Name: cyclic nucleotide gated channel beta 3
RGD ID: 1557161
MGI Page MGI
Description: Enables intracellularly cGMP-activated cation channel activity. Predicted to be involved in monoatomic cation transmembrane transport. Located in photoreceptor outer segment. Is expressed in retina. Used to study achromatopsia 3. Human ortholog(s) of this gene implicated in achromatopsia 3 and color blindness. Orthologous to human CNGB3 (cyclic nucleotide gated channel subunit beta 3).
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: CCNC; CCNC2; CNG; CNG channel beta-3; CNG6; Cngbet; Cngbeta2; cone photoreceptor cGMP-gated channel subunit beta; cyclic nucleotide gated channel beta 6; cyclic nucleotide-gated cation channel beta-3; cyclic nucleotide-gated cation channel modulatory subunit; cyclic nucleotide-gated channel beta-3; cyclic nucleotide-gated channel subunit CNG6
RGD Orthologs
Human
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Latest Assembly: GRCm39 - Mouse Genome Assembly GRCm39
Position:
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39419,280,850 - 19,510,623 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl419,280,850 - 19,510,623 (+)EnsemblGRCm39 Ensembl
GRCm38419,280,850 - 19,510,623 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl419,280,850 - 19,510,623 (+)EnsemblGRCm38mm10GRCm38
MGSCv37419,207,997 - 19,437,770 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36419,207,997 - 19,437,770 (+)NCBIMGSCv36mm8
Celera419,042,770 - 19,272,553 (+)NCBICelera
Cytogenetic Map4A3NCBI
cM Map47.42NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Segregation of a mutation in CNGB1 encoding the beta-subunit of the rod cGMP-gated channel in a family with autosomal recessive retinitis pigmentosa. Bareil C, etal., Hum Genet 2001 Apr;108(4):328-34.
2. Calcium signalling remodelling and disease. Berridge MJ Biochem Soc Trans. 2012 Apr;40(2):297-309. doi: 10.1042/BST20110766.
3. Long-term and age-dependent restoration of visual function in a mouse model of CNGB3-associated achromatopsia following gene therapy. Carvalho LS, etal., Hum Mol Genet. 2011 Aug 15;20(16):3161-75. doi: 10.1093/hmg/ddr218. Epub 2011 May 15.
4. Cyclic nucleotide-gated ion channels. Kaupp UB and Seifert R, Physiol Rev. 2002 Jul;82(3):769-824.
5. 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. Kohl S, etal., Hum Mol Genet. 2000 Sep 1;9(14):2107-16.
6. MGDs mouse GO annotations MGD data from the GO Consortium
7. Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Okazaki Y, etal., Nature. 2002 Dec 5;420(6915):563-73.
8. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
9. Mouse MP Annotation Import Pipeline RGD automated import pipeline
10. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
11. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
12. Achromatopsia: the CNGB3 p.T383fsX mutation results from a founder effect and is responsible for the visual phenotype in the original report of uniparental disomy 14. Wiszniewski W, etal., Hum Genet. 2007 May;121(3-4):433-9. Epub 2007 Jan 31.
Additional References at PubMed
PMID:10349636   PMID:10662822   PMID:11042159   PMID:11076861   PMID:11217851   PMID:12432397   PMID:12477932   PMID:15634774   PMID:16110338   PMID:16141072   PMID:16141073   PMID:18665891  
PMID:19014374   PMID:19767295   PMID:20238003   PMID:21267068   PMID:21273547   PMID:21677750   PMID:21873635   PMID:22183405   PMID:22192355   PMID:22493484   PMID:23740940   PMID:24550448  
PMID:24664681   PMID:25855802   PMID:26567794   PMID:26893377   PMID:27623928   PMID:28428265   PMID:30592498   PMID:32290105   PMID:32869108   PMID:34779479   PMID:38355793  


Genomics

Comparative Map Data
Cngb3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39419,280,850 - 19,510,623 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl419,280,850 - 19,510,623 (+)EnsemblGRCm39 Ensembl
GRCm38419,280,850 - 19,510,623 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl419,280,850 - 19,510,623 (+)EnsemblGRCm38mm10GRCm38
MGSCv37419,207,997 - 19,437,770 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36419,207,997 - 19,437,770 (+)NCBIMGSCv36mm8
Celera419,042,770 - 19,272,553 (+)NCBICelera
Cytogenetic Map4A3NCBI
cM Map47.42NCBI
CNGB3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38886,574,179 - 86,743,634 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl886,553,977 - 86,743,675 (-)EnsemblGRCh38hg38GRCh38
GRCh37887,586,407 - 87,755,862 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36887,655,277 - 87,825,017 (-)NCBINCBI36Build 36hg18NCBI36
Build 34887,655,278 - 87,825,017NCBI
Celera883,780,714 - 83,950,463 (-)NCBICelera
Cytogenetic Map8q21.3NCBI
HuRef882,795,582 - 82,965,151 (-)NCBIHuRef
CHM1_1887,627,665 - 87,797,926 (-)NCBICHM1_1
T2T-CHM13v2.0887,694,425 - 87,863,851 (-)NCBIT2T-CHM13v2.0
Cngb3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8537,543,903 - 37,792,030 (+)NCBIGRCr8
mRatBN7.2532,746,988 - 32,995,121 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl532,746,988 - 32,995,121 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx534,860,111 - 35,109,275 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0536,452,691 - 36,701,842 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0536,391,804 - 36,640,963 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0533,097,353 - 33,507,467 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl533,097,654 - 33,507,467 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0538,090,335 - 38,161,871 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.0537,757,561 - 38,027,396 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4533,867,639 - 34,136,940 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera531,864,644 - 32,091,469 (+)NCBICelera
Cytogenetic Map5q13NCBI
Cngb3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554174,168,766 - 4,300,437 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554174,164,328 - 4,288,516 (-)NCBIChiLan1.0ChiLan1.0
CNGB3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v27103,976,343 - 104,146,902 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1879,515,298 - 79,685,793 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0883,269,589 - 83,439,999 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1885,238,043 - 85,407,023 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl885,238,043 - 85,407,059 (-)Ensemblpanpan1.1panPan2
CNGB3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12932,744,946 - 32,992,715 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2932,749,389 - 32,893,077 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2932,904,962 - 33,048,456 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02932,900,394 - 33,163,070 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2932,904,840 - 33,048,604 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12932,947,981 - 33,091,326 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02932,973,137 - 33,116,009 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02933,393,790 - 33,536,962 (-)NCBIUU_Cfam_GSD_1.0
Cngb3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530346,487,382 - 46,625,809 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365441,166,508 - 1,305,457 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365441,166,896 - 1,305,339 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CNGB3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl450,112,927 - 50,263,222 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1450,112,927 - 50,263,264 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2455,027,871 - 55,179,235 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CNGB3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1881,757,567 - 81,911,256 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl881,759,642 - 81,909,760 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603959,040,485 - 59,192,743 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Cngb3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247445,042,494 - 5,207,818 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247445,059,957 - 5,209,144 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in Cngb3
8145 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:580
Count of miRNA genes:401
Interacting mature miRNAs:448
Transcripts:ENSMUST00000102999
Prediction methods:Miranda
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCm39)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
4142047Mvwf3_mmodifier of von Willebrand factor 3 (mouse)Not determined14010457117072206Mouse
1301203Alcp8_malcohol preference locus 8 (mouse)Not determined41739516051395290Mouse
11567249Elorr3_methanol induced loss of righting response 3 (mouse)43722677156268235Mouse
11049579Lmr9b_mleishmaniasis resistance 9b (mouse)4120657234Mouse
11049580Lmr9a_mleishmaniasis resistance 9 (mouse)4120657234Mouse
10401115Pgia35_mproteoglycan induced arthritis 35 (mouse)Not determined41256237746562509Mouse
25440481Moaq1_mmodifier of alien QTL 1 (mouse)41950000046000000Mouse
1301237Alcp7_malcohol preference locus 7 (mouse)Not determined41739516051395290Mouse
39128211Lwq22_mliver weight QTL 22 (mouse)41789261688982216Mouse
1558992Ses8_msalmonella enteritidis susceptibility 8 (mouse)Not determined4868324042683429Mouse
4141911W6q15_mweight 6 weeks QTL 15 (mouse)Not determined1789261688982216Mouse
1301274Lmr9_mleishmaniasis resistance 9 (mouse)Not determined4120657234Mouse
1302010Wta1_mweight adult 1 (mouse)Not determined4868324042683429Mouse
4141302Ssrq5_mstress response QTL 5 (mouse)Not determined868324042683430Mouse
4141555Nbwa2_mNZB and NZW autoimmunity 2 (mouse)Not determined41789251551892635Mouse
10401905Sicd3_mseizure-induced cell death 3 (mouse)Not determined4939552543760862Mouse
10412079Sm1_msusceptibility to Schistosoma mansoni infection 1 (mouse)Not determined4122955614Mouse
12880405Jcdq1_mjoint cartilage degeneration QTL 1 (mouse)41256237746562509Mouse
4142318Lyr2_mlymphoma resistance 2 (mouse)Not determined1401045763283678Mouse
1301473Triglq1_mtriglyceride QTL 1 (mouse)Not determined4868324042683429Mouse
1301510Bbaa13_mB.burgdorferi-associated arthritis 13 (mouse)Not determined4126395649Mouse
1357453Kidq4_mkidney weight QTL 4 (mouse)Not determined41789261688982216Mouse
1302125Lxw1_mlupus BXSB x NZW 1 (mouse)Not determined4868324042683429Mouse

Markers in Region
D4Dcr5  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm38419,442,025 - 19,442,127UniSTSGRCm38
MGSCv37419,369,172 - 19,369,274UniSTSGRCm37
Celera419,203,813 - 19,203,915UniSTS
Cytogenetic Map4A3UniSTS
cM Map4 UniSTS


Sequence


Ensembl Acc Id: ENSMUST00000102999   ⟹   ENSMUSP00000100064
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl419,280,850 - 19,510,623 (+)Ensembl
GRCm38.p6 Ensembl419,280,850 - 19,510,623 (+)Ensembl
RefSeq Acc Id: NM_013927   ⟹   NP_038955
RefSeq Status: VALIDATED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39419,280,850 - 19,510,623 (+)NCBI
GRCm38419,280,850 - 19,510,623 (+)ENTREZGENE
MGSCv37419,207,997 - 19,437,770 (+)RGD
Celera419,042,770 - 19,272,553 (+)RGD
cM Map4 ENTREZGENE
Sequence:
Protein Sequences
Protein RefSeqs NP_038955 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein CAB71152 (Get FASTA)   NCBI Sequence Viewer  
  EDL05582 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSMUSP00000100064
  ENSMUSP00000100064.2
GenBank Protein Q9JJZ9 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_038955   ⟸   NM_013927
- UniProtKB: Q9JJZ9 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSMUSP00000100064   ⟸   ENSMUST00000102999

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9JJZ9-F1-model_v2 AlphaFold Q9JJZ9 1-694 view protein structure

Promoters
RGD ID:6882950
Promoter ID:EPDNEW_M4895
Type:initiation region
Name:Cngb3_1
Description:Mus musculus cyclic nucleotide gated channel beta 3 , mRNA.
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm38419,280,926 - 19,280,986EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene MGI:1353562 AgrOrtholog
Ensembl Genes ENSMUSG00000056494 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENSMUST00000102999 ENTREZGENE
  ENSMUST00000102999.2 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.287.70 UniProtKB/Swiss-Prot
  2.60.120.10 UniProtKB/Swiss-Prot
  Helix hairpin bin UniProtKB/Swiss-Prot
InterPro CNG_Cation_Channel UniProtKB/Swiss-Prot
  cNMP-bd-like UniProtKB/Swiss-Prot
  cNMP-bd_CS UniProtKB/Swiss-Prot
  cNMP-bd_dom UniProtKB/Swiss-Prot
  Ion_trans_dom UniProtKB/Swiss-Prot
  RmlC-like_jellyroll UniProtKB/Swiss-Prot
KEGG Report mmu:30952 UniProtKB/Swiss-Prot
MGD MGI:1353562 ENTREZGENE
NCBI Gene 30952 ENTREZGENE
PANTHER CYCLIC NUCLEOTIDE-GATED CATION CHANNEL SUBUNIT A UniProtKB/Swiss-Prot
  PTHR45638:SF8 UniProtKB/Swiss-Prot
Pfam cNMP_binding UniProtKB/Swiss-Prot
  Ion_trans UniProtKB/Swiss-Prot
PhenoGen Cngb3 PhenoGen
PROSITE CNMP_BINDING_1 UniProtKB/Swiss-Prot
  CNMP_BINDING_2 UniProtKB/Swiss-Prot
  CNMP_BINDING_3 UniProtKB/Swiss-Prot
SMART cNMP UniProtKB/Swiss-Prot
Superfamily-SCOP SSF51206 UniProtKB/Swiss-Prot
  Voltage-gated potassium channels UniProtKB/Swiss-Prot
UniProt CNGB3_MOUSE UniProtKB/Swiss-Prot, ENTREZGENE