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
Alliance Orthologs
More Info
more info ...
More Info
Species
Gene symbol and name
Data Source
Assertion derived from
less info ...
Orthologs 1
Homo sapiens (human):
CNGB3 (cyclic nucleotide gated channel subunit beta 3) HGNC
EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):
Cngb3 (cyclic nucleotide gated channel subunit beta 3) Transitive Ortholog Pipeline
Transitive Ortholog Pipeline
Chinchilla lanigera (long-tailed chinchilla):
Cngb3 (cyclic nucleotide gated channel subunit beta 3) Transitive Ortholog Pipeline
Transitive Ortholog Pipeline
Pan paniscus (bonobo/pygmy chimpanzee):
CNGB3 (cyclic nucleotide gated channel subunit beta 3) Transitive Ortholog Pipeline
Transitive Ortholog Pipeline
Canis lupus familiaris (dog):
CNGB3 (cyclic nucleotide gated channel subunit beta 3) Transitive Ortholog Pipeline
Transitive Ortholog Pipeline
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):
Cngb3 (cyclic nucleotide gated channel subunit beta 3) Transitive Ortholog Pipeline
Transitive Ortholog Pipeline
Sus scrofa (pig):
CNGB3 (cyclic nucleotide gated channel subunit beta 3) Transitive Ortholog Pipeline
Transitive Ortholog Pipeline
Chlorocebus sabaeus (green monkey):
CNGB3 (cyclic nucleotide gated channel subunit beta 3) Transitive Ortholog Pipeline
Transitive Ortholog Pipeline
Heterocephalus glaber (naked mole-rat):
Cngb3 (cyclic nucleotide gated channel subunit beta 3) Transitive Ortholog Pipeline
Transitive Ortholog Pipeline
Other homologs 2
Homo sapiens (human):
CNGB1 (cyclic nucleotide gated channel subunit beta 1) HGNC
OrthoMCL
Alliance orthologs 3
Homo sapiens (human):
CNGB3 (cyclic nucleotide gated channel subunit beta 3)
Alliance
DIOPT (Ensembl Compara|HGNC|Hieranoid|InParanoid|OMA|OrthoFinder|OrthoInspector|PANTHER|PhylomeDB|SonicParanoid)
Rattus norvegicus (Norway rat):
Cngb3 (cyclic nucleotide gated channel subunit beta 3)
Alliance
DIOPT (Ensembl Compara|Hieranoid|InParanoid|OMA|OrthoFinder|OrthoInspector|PANTHER|PhylomeDB|SonicParanoid)
Danio rerio (zebrafish):
cngb3.1 (cyclic nucleotide gated channel beta 3, tandem duplicate 1)
Alliance
DIOPT (Ensembl Compara|OrthoFinder|PANTHER)
Drosophila melanogaster (fruit fly):
CngB
Alliance
DIOPT (Ensembl Compara|Hieranoid|OrthoFinder|OrthoInspector|PANTHER|PhylomeDB)
Caenorhabditis elegans (roundworm):
tax-2
Alliance
DIOPT (Ensembl Compara|Hieranoid|InParanoid|OrthoFinder|OrthoInspector|PANTHER|PhylomeDB)
Xenopus tropicalis (tropical clawed frog):
cngb3
Alliance
DIOPT (Hieranoid|InParanoid|OMA|OrthoFinder|OrthoInspector|PANTHER|PhylomeDB)
Latest Assembly:
GRCm39 - Mouse Genome Assembly GRCm39
Position:
Mouse Assembly Chr Position (strand) Source Genome Browsers JBrowse NCBI UCSC Ensembl GRCm39 4 19,280,850 - 19,510,623 (+) NCBI GRCm39 GRCm39 mm39 GRCm39 Ensembl 4 19,280,850 - 19,510,623 (+) Ensembl GRCm39 Ensembl GRCm38 4 19,280,850 - 19,510,623 (+) NCBI GRCm38 GRCm38 mm10 GRCm38 GRCm38.p6 Ensembl 4 19,280,850 - 19,510,623 (+) Ensembl GRCm38 mm10 GRCm38 MGSCv37 4 19,207,997 - 19,437,770 (+) NCBI GRCm37 MGSCv37 mm9 NCBIm37 MGSCv36 4 19,207,997 - 19,437,770 (+) NCBI MGSCv36 mm8 Celera 4 19,042,770 - 19,272,553 (+) NCBI Celera Cytogenetic Map 4 A3 NCBI cM Map 4 7.42 NCBI
JBrowse:
View Region in Genome Browser (JBrowse)
Model
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.
Cngb3 Mouse Assembly Chr Position (strand) Source Genome Browsers JBrowse NCBI UCSC Ensembl GRCm39 4 19,280,850 - 19,510,623 (+) NCBI GRCm39 GRCm39 mm39 GRCm39 Ensembl 4 19,280,850 - 19,510,623 (+) Ensembl GRCm39 Ensembl GRCm38 4 19,280,850 - 19,510,623 (+) NCBI GRCm38 GRCm38 mm10 GRCm38 GRCm38.p6 Ensembl 4 19,280,850 - 19,510,623 (+) Ensembl GRCm38 mm10 GRCm38 MGSCv37 4 19,207,997 - 19,437,770 (+) NCBI GRCm37 MGSCv37 mm9 NCBIm37 MGSCv36 4 19,207,997 - 19,437,770 (+) NCBI MGSCv36 mm8 Celera 4 19,042,770 - 19,272,553 (+) NCBI Celera Cytogenetic Map 4 A3 NCBI cM Map 4 7.42 NCBI
CNGB3 Human Assembly Chr Position (strand) Source Genome Browsers JBrowse NCBI UCSC Ensembl GRCh38 8 86,574,179 - 86,743,634 (-) NCBI GRCh38 GRCh38 hg38 GRCh38 GRCh38.p14 Ensembl 8 86,553,977 - 86,743,675 (-) Ensembl GRCh38 hg38 GRCh38 GRCh37 8 87,586,407 - 87,755,862 (-) NCBI GRCh37 GRCh37 hg19 GRCh37 Build 36 8 87,655,277 - 87,825,017 (-) NCBI NCBI36 Build 36 hg18 NCBI36 Build 34 8 87,655,278 - 87,825,017 NCBI Celera 8 83,780,714 - 83,950,463 (-) NCBI Celera Cytogenetic Map 8 q21.3 NCBI HuRef 8 82,795,582 - 82,965,151 (-) NCBI HuRef CHM1_1 8 87,627,665 - 87,797,926 (-) NCBI CHM1_1 T2T-CHM13v2.0 8 87,694,425 - 87,863,851 (-) NCBI T2T-CHM13v2.0
Cngb3 Rat Assembly Chr Position (strand) Source Genome Browsers JBrowse NCBI UCSC Ensembl GRCr8 5 37,543,903 - 37,792,030 (+) NCBI GRCr8 mRatBN7.2 5 32,746,988 - 32,995,121 (+) NCBI mRatBN7.2 mRatBN7.2 mRatBN7.2 Ensembl 5 32,746,988 - 32,995,121 (+) Ensembl mRatBN7.2 Ensembl UTH_Rnor_SHR_Utx 5 34,860,111 - 35,109,275 (+) NCBI Rnor_SHR UTH_Rnor_SHR_Utx UTH_Rnor_SHRSP_BbbUtx_1.0 5 36,452,691 - 36,701,842 (+) NCBI Rnor_SHRSP UTH_Rnor_SHRSP_BbbUtx_1.0 UTH_Rnor_WKY_Bbb_1.0 5 36,391,804 - 36,640,963 (+) NCBI Rnor_WKY UTH_Rnor_WKY_Bbb_1.0 Rnor_6.0 5 33,097,353 - 33,507,467 (+) NCBI Rnor6.0 Rnor_6.0 rn6 Rnor6.0 Rnor_6.0 Ensembl 5 33,097,654 - 33,507,467 (+) Ensembl Rnor6.0 rn6 Rnor6.0 Rnor_5.0 5 38,090,335 - 38,161,871 (+) NCBI Rnor5.0 Rnor_5.0 rn5 Rnor5.0 Rnor_5.0 5 37,757,561 - 38,027,396 (+) NCBI Rnor5.0 Rnor_5.0 rn5 Rnor5.0 RGSC_v3.4 5 33,867,639 - 34,136,940 (+) NCBI RGSC3.4 RGSC_v3.4 rn4 RGSC3.4 Celera 5 31,864,644 - 32,091,469 (+) NCBI Celera Cytogenetic Map 5 q13 NCBI
Cngb3 Chinchilla Assembly Chr Position (strand) Source Genome Browsers JBrowse NCBI UCSC Ensembl ChiLan1.0 Ensembl NW_004955417 4,168,766 - 4,300,437 (-) Ensembl ChiLan1.0 ChiLan1.0 NW_004955417 4,164,328 - 4,288,516 (-) NCBI ChiLan1.0 ChiLan1.0
CNGB3 Bonobo Assembly Chr Position (strand) Source Genome Browsers JBrowse NCBI UCSC Ensembl NHGRI_mPanPan1-v2 7 103,976,343 - 104,146,902 (-) NCBI NHGRI_mPanPan1-v2 NHGRI_mPanPan1 8 79,515,298 - 79,685,793 (-) NCBI NHGRI_mPanPan1 Mhudiblu_PPA_v0 8 83,269,589 - 83,439,999 (-) NCBI Mhudiblu_PPA_v0 Mhudiblu_PPA_v0 panPan3 PanPan1.1 8 85,238,043 - 85,407,023 (-) NCBI panpan1.1 PanPan1.1 panPan2 PanPan1.1 Ensembl 8 85,238,043 - 85,407,059 (-) Ensembl panpan1.1 panPan2
CNGB3 Dog Assembly Chr Position (strand) Source Genome Browsers JBrowse NCBI UCSC Ensembl CanFam3.1 29 32,744,946 - 32,992,715 (-) NCBI CanFam3.1 CanFam3.1 canFam3 CanFam3.1 CanFam3.1 Ensembl 29 32,749,389 - 32,893,077 (-) Ensembl CanFam3.1 canFam3 CanFam3.1 Dog10K_Boxer_Tasha 29 32,904,962 - 33,048,456 (-) NCBI Dog10K_Boxer_Tasha ROS_Cfam_1.0 29 32,900,394 - 33,163,070 (-) NCBI ROS_Cfam_1.0 ROS_Cfam_1.0 Ensembl 29 32,904,840 - 33,048,604 (-) Ensembl ROS_Cfam_1.0 Ensembl UMICH_Zoey_3.1 29 32,947,981 - 33,091,326 (-) NCBI UMICH_Zoey_3.1 UNSW_CanFamBas_1.0 29 32,973,137 - 33,116,009 (-) NCBI UNSW_CanFamBas_1.0 UU_Cfam_GSD_1.0 29 33,393,790 - 33,536,962 (-) NCBI UU_Cfam_GSD_1.0
Cngb3 Squirrel Assembly Chr Position (strand) Source Genome Browsers JBrowse NCBI UCSC Ensembl HiC_Itri_2 NW_024405303 46,487,382 - 46,625,809 (+) NCBI HiC_Itri_2 SpeTri2.0 Ensembl NW_004936544 1,166,508 - 1,305,457 (-) Ensembl SpeTri2.0 SpeTri2.0 Ensembl SpeTri2.0 NW_004936544 1,166,896 - 1,305,339 (-) NCBI SpeTri2.0 SpeTri2.0 SpeTri2.0
CNGB3 Pig Assembly Chr Position (strand) Source Genome Browsers JBrowse NCBI UCSC Ensembl Sscrofa11.1 Ensembl 4 50,112,927 - 50,263,222 (+) Ensembl Sscrofa11.1 susScr11 Sscrofa11.1 Sscrofa11.1 4 50,112,927 - 50,263,264 (+) NCBI Sscrofa11.1 Sscrofa11.1 susScr11 Sscrofa11.1 Sscrofa10.2 4 55,027,871 - 55,179,235 (+) NCBI Sscrofa10.2 Sscrofa10.2 susScr3
CNGB3 Green Monkey Assembly Chr Position (strand) Source Genome Browsers JBrowse NCBI UCSC Ensembl ChlSab1.1 8 81,757,567 - 81,911,256 (-) NCBI ChlSab1.1 ChlSab1.1 chlSab2 ChlSab1.1 Ensembl 8 81,759,642 - 81,909,760 (-) Ensembl ChlSab1.1 ChlSab1.1 Ensembl chlSab2 Vero_WHO_p1.0 NW_023666039 59,040,485 - 59,192,743 (+) NCBI Vero_WHO_p1.0 Vero_WHO_p1.0
Cngb3
.
Predicted Target Of
Count of predictions: 580 Count of miRNA genes: 401 Interacting mature miRNAs: 448 Transcripts: ENSMUST00000102999 Prediction methods: Miranda Result types: miRGate_prediction
4142047 Mvwf3_m modifier of von Willebrand factor 3 (mouse) Not determined 14010457 117072206 Mouse 1301203 Alcp8_m alcohol preference locus 8 (mouse) Not determined 4 17395160 51395290 Mouse 11567249 Elorr3_m ethanol induced loss of righting response 3 (mouse) 4 3722677 156268235 Mouse 11049579 Lmr9b_m leishmaniasis resistance 9b (mouse) 4 1 20657234 Mouse 11049580 Lmr9a_m leishmaniasis resistance 9 (mouse) 4 1 20657234 Mouse 10401115 Pgia35_m proteoglycan induced arthritis 35 (mouse) Not determined 4 12562377 46562509 Mouse 25440481 Moaq1_m modifier of alien QTL 1 (mouse) 4 19500000 46000000 Mouse 1301237 Alcp7_m alcohol preference locus 7 (mouse) Not determined 4 17395160 51395290 Mouse 39128211 Lwq22_m liver weight QTL 22 (mouse) 4 17892616 88982216 Mouse 1558992 Ses8_m salmonella enteritidis susceptibility 8 (mouse) Not determined 4 8683240 42683429 Mouse 4141911 W6q15_m weight 6 weeks QTL 15 (mouse) Not determined 17892616 88982216 Mouse 1301274 Lmr9_m leishmaniasis resistance 9 (mouse) Not determined 4 1 20657234 Mouse 1302010 Wta1_m weight adult 1 (mouse) Not determined 4 8683240 42683429 Mouse 4141302 Ssrq5_m stress response QTL 5 (mouse) Not determined 8683240 42683430 Mouse 4141555 Nbwa2_m NZB and NZW autoimmunity 2 (mouse) Not determined 4 17892515 51892635 Mouse 10401905 Sicd3_m seizure-induced cell death 3 (mouse) Not determined 4 9395525 43760862 Mouse 10412079 Sm1_m susceptibility to Schistosoma mansoni infection 1 (mouse) Not determined 4 1 22955614 Mouse 12880405 Jcdq1_m joint cartilage degeneration QTL 1 (mouse) 4 12562377 46562509 Mouse 4142318 Lyr2_m lymphoma resistance 2 (mouse) Not determined 14010457 63283678 Mouse 1301473 Triglq1_m triglyceride QTL 1 (mouse) Not determined 4 8683240 42683429 Mouse 1301510 Bbaa13_m B.burgdorferi-associated arthritis 13 (mouse) Not determined 4 1 26395649 Mouse 1357453 Kidq4_m kidney weight QTL 4 (mouse) Not determined 4 17892616 88982216 Mouse 1302125 Lxw1_m lupus BXSB x NZW 1 (mouse) Not determined 4 8683240 42683429 Mouse
D4Dcr5
Mouse Assembly Chr Position (strand) Source JBrowse GRCm38 4 19,442,025 - 19,442,127 UniSTS GRCm38 MGSCv37 4 19,369,172 - 19,369,274 UniSTS GRCm37 Celera 4 19,203,813 - 19,203,915 UniSTS Cytogenetic Map 4 A3 UniSTS cM Map 4 UniSTS
Click on a value in the shaded box below the category label to view a detailed expression data table for that system.
Ensembl Acc Id:
ENSMUST00000102999 ⟹ ENSMUSP00000100064
Type:
CODING
Position:
Mouse Assembly Chr Position (strand) Source GRCm39 Ensembl 4 19,280,850 - 19,510,623 (+) Ensembl GRCm38.p6 Ensembl 4 19,280,850 - 19,510,623 (+) Ensembl
RefSeq Acc Id:
NM_013927 ⟹ NP_038955
RefSeq Status:
VALIDATED
Type:
CODING
Position:
Mouse Assembly Chr Position (strand) Source GRCm39 4 19,280,850 - 19,510,623 (+) NCBI GRCm38 4 19,280,850 - 19,510,623 (+) ENTREZGENE MGSCv37 4 19,207,997 - 19,437,770 (+) RGD Celera 4 19,042,770 - 19,272,553 (+) RGD cM Map 4 ENTREZGENE
Sequence:
TGGAAAGAAAAACAAAGCACATCTCTCCTCTTCGAGATACAGGGTCATATAATCGGAGGTCTTTCAGACCTGCCTCAGAGAAGATGTTAAAATCACTGACAGTAAAATTCAACAAAGTGAATCCCATG
hide sequence
RefSeq Acc Id:
NP_038955 ⟸ NM_013927
- UniProtKB:
Q9JJZ9 (UniProtKB/Swiss-Prot)
- Sequence:
MLKSLTVKFNKVNPMEGRMEKKLCPNLSSLSQPTIAQGDNQSEKEPLRSRTPITFEKSHSKEDNSTGENSLRDFTPNPDPECRAELTRTMAEMEKTRTGKERPVSFKTKVLETSIINEYTDAHLHNLV
hide sequence
Ensembl Acc Id:
ENSMUSP00000100064 ⟸ ENSMUST00000102999
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 Assembly Chr Position (strand) Source GRCm38 4 19,280,926 - 19,280,986 EPDNEW
