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{{Infobox_gene}}
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'''Cyclic nucleotide gated channel beta 3''', also known as '''CNGB3''', is a human [[gene]] encoding an [[ion channel]] protein.<ref name="entrez">{{cite web | title = Entrez Gene: CNGB3 cyclic nucleotide gated channel beta 3| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=54714| accessdate = }}</ref>
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{{GNF_Protein_box
| image = 
| image_source = 
| PDB =
| Name = Cyclic nucleotide gated channel beta 3
| HGNCid = 2153
| Symbol = CNGB3
| AltSymbols =; ACHM3
| OMIM = 605080
| ECnumber = 
| Homologene = 40908
| MGIid = 1353562
| GeneAtlas_image1 = PBB_GE_CNGB3_220304_s_at_tn.png
| Function = {{GNF_GO|id=GO:0000166 |text = nucleotide binding}} {{GNF_GO|id=GO:0005216 |text = ion channel activity}} {{GNF_GO|id=GO:0005223 |text = intracellular cGMP activated cation channel activity}} {{GNF_GO|id=GO:0030553 |text = cGMP binding}}
| Component = {{GNF_GO|id=GO:0005887 |text = integral to plasma membrane}} {{GNF_GO|id=GO:0016020 |text = membrane}}
| Process = {{GNF_GO|id=GO:0006811 |text = ion transport}} {{GNF_GO|id=GO:0007165 |text = signal transduction}} {{GNF_GO|id=GO:0007601 |text = visual perception}} {{GNF_GO|id=GO:0050896 |text = response to stimulus}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 54714
    | Hs_Ensembl = ENSG00000170289
    | Hs_RefseqProtein = NP_061971
    | Hs_RefseqmRNA = NM_019098
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 8
    | Hs_GenLoc_start = 87655280
    | Hs_GenLoc_end = 87825017
    | Hs_Uniprot = Q9NQW8
    | Mm_EntrezGene = 30952
    | Mm_Ensembl = ENSMUSG00000056494
    | Mm_RefseqmRNA = NM_013927
    | Mm_RefseqProtein = NP_038955
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 4
    | Mm_GenLoc_start = 19207997
    | Mm_GenLoc_end = 19437770
    | Mm_Uniprot = Q9JJZ9
  }}
}}
'''Cyclic nucleotide gated channel beta 3''', also known as '''CNGB3''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: CNGB3 cyclic nucleotide gated channel beta 3| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=54714| accessdate = }}</ref>


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{{PBB_Summary
{{PBB Summary
| section_title =  
| section_title =  
| summary_text =  
| summary_text =  
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==See also==
==See also==
* [[Cyclic nucleotide-gated ion channel]]
* [[Cyclic nucleotide-gated ion channel]]
* [[Stargardt disease]]


==References==
==References==
{{reflist|2}}
{{reflist}}


==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin|35em}}
{{PBB_Further_reading  
{{PBB_Further_reading  
| citations =  
| citations =  
*{{cite journal  | author=Hofmann F, Biel M, Kaupp UB |title=International Union of Pharmacology. LI. Nomenclature and structure-function relationships of cyclic nucleotide-regulated channels. |journal=Pharmacol. Rev. |volume=57 |issue= 4 |pages= 455-62 |year= 2006 |pmid= 16382102 |doi= 10.1124/pr.57.4.8 }}
*{{cite journal  | vauthors=Hofmann F, Biel M, Kaupp UB |title=International Union of Pharmacology. LI. Nomenclature and structure-function relationships of cyclic nucleotide-regulated channels. |journal=Pharmacol. Rev. |volume=57 |issue= 4 |pages= 455–62 |year= 2006 |pmid= 16382102 |doi= 10.1124/pr.57.4.8 }}
*{{cite journal  | author=Koenekoop RK, Lopez I, den Hollander AI, ''et al.'' |title=Genetic testing for retinal dystrophies and dysfunctions: benefits, dilemmas and solutions. |journal=Clin. Experiment. Ophthalmol. |volume=35 |issue= 5 |pages= 473-85 |year= 2007 |pmid= 17651254 |doi= 10.1111/j.1442-9071.2007.01534.x }}
*{{cite journal  | vauthors=Koenekoop RK, Lopez I, den Hollander AI |title=Genetic testing for retinal dystrophies and dysfunctions: benefits, dilemmas and solutions. |journal=Clin. Experiment. Ophthalmol. |volume=35 |issue= 5 |pages= 473–85 |year= 2007 |pmid= 17651254 |doi= 10.1111/j.1442-9071.2007.01534.x |display-authors=etal}}
*{{cite journal  | author=Pentao L, Lewis RA, Ledbetter DH, ''et al.'' |title=Maternal uniparental isodisomy of chromosome 14: association with autosomal recessive rod monochromacy. |journal=Am. J. Hum. Genet. |volume=50 |issue= 4 |pages= 690-9 |year= 1992 |pmid= 1347967 |doi=  }}
*{{cite journal  | vauthors=Pentao L, Lewis RA, Ledbetter DH |title=Maternal uniparental isodisomy of chromosome 14: association with autosomal recessive rod monochromacy. |journal=Am. J. Hum. Genet. |volume=50 |issue= 4 |pages= 690–9 |year= 1992 |pmid= 1347967 |doi=  | pmc=1682625  |display-authors=etal}}
*{{cite journal  | author=Winick JD, Blundell ML, Galke BL, ''et al.'' |title=Homozygosity mapping of the Achromatopsia locus in the Pingelapese. |journal=Am. J. Hum. Genet. |volume=64 |issue= 6 |pages= 1679-85 |year= 1999 |pmid= 10330355 |doi=  }}
*{{cite journal  | vauthors=Winick JD, Blundell ML, Galke BL |title=Homozygosity mapping of the Achromatopsia locus in the Pingelapese. |journal=Am. J. Hum. Genet. |volume=64 |issue= 6 |pages= 1679–85 |year= 1999 |pmid= 10330355 |doi=10.1086/302423 | pmc=1377911  |display-authors=etal}}
*{{cite journal  | author=Sundin OH, Yang JM, Li Y, ''et al.'' |title=Genetic basis of total colourblindness among the Pingelapese islanders. |journal=Nat. Genet. |volume=25 |issue= 3 |pages= 289-93 |year= 2000 |pmid= 10888875 |doi= 10.1038/77162 }}
*{{cite journal  | vauthors=Sundin OH, Yang JM, Li Y |title=Genetic basis of total colourblindness among the Pingelapese islanders. |journal=Nat. Genet. |volume=25 |issue= 3 |pages= 289–93 |year= 2000 |pmid= 10888875 |doi= 10.1038/77162 |display-authors=etal}}
*{{cite journal  | author=Kohl S, Baumann B, Broghammer M, ''et al.'' |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. |journal=Hum. Mol. Genet. |volume=9 |issue= 14 |pages= 2107-16 |year= 2000 |pmid= 10958649 |doi=  }}
*{{cite journal  | vauthors=Kohl S, Baumann B, Broghammer M |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. |journal=Hum. Mol. Genet. |volume=9 |issue= 14 |pages= 2107–16 |year= 2000 |pmid= 10958649 |doi=10.1093/hmg/9.14.2107 |display-authors=etal}}
*{{cite journal  | author=Peng C, Rich ED, Thor CA, Varnum MD |title=Functionally important calmodulin-binding sites in both NH2- and COOH-terminal regions of the cone photoreceptor cyclic nucleotide-gated channel CNGB3 subunit. |journal=J. Biol. Chem. |volume=278 |issue= 27 |pages= 24617-23 |year= 2003 |pmid= 12730238 |doi= 10.1074/jbc.M301699200 }}
*{{cite journal  | vauthors=Peng C, Rich ED, Thor CA, Varnum MD |title=Functionally important calmodulin-binding sites in both NH2- and COOH-terminal regions of the cone photoreceptor cyclic nucleotide-gated channel CNGB3 subunit. |journal=J. Biol. Chem. |volume=278 |issue= 27 |pages= 24617–23 |year= 2003 |pmid= 12730238 |doi= 10.1074/jbc.M301699200 }}
*{{cite journal  | author=Peng C, Rich ED, Varnum MD |title=Achromatopsia-associated mutation in the human cone photoreceptor cyclic nucleotide-gated channel CNGB3 subunit alters the ligand sensitivity and pore properties of heteromeric channels. |journal=J. Biol. Chem. |volume=278 |issue= 36 |pages= 34533-40 |year= 2003 |pmid= 12815043 |doi= 10.1074/jbc.M305102200 }}
*{{cite journal  | vauthors=Peng C, Rich ED, Varnum MD |title=Achromatopsia-associated mutation in the human cone photoreceptor cyclic nucleotide-gated channel CNGB3 subunit alters the ligand sensitivity and pore properties of heteromeric channels. |journal=J. Biol. Chem. |volume=278 |issue= 36 |pages= 34533–40 |year= 2003 |pmid= 12815043 |doi= 10.1074/jbc.M305102200 }}
*{{cite journal  | author=Johnson S, Michaelides M, Aligianis IA, ''et al.'' |title=Achromatopsia caused by novel mutations in both CNGA3 and CNGB3. |journal=J. Med. Genet. |volume=41 |issue= 2 |pages= e20 |year= 2004 |pmid= 14757870 |doi=  }}
*{{cite journal  | vauthors=Johnson S, Michaelides M, Aligianis IA |title=Achromatopsia caused by novel mutations in both CNGA3 and CNGB3. |journal=J. Med. Genet. |volume=41 |issue= 2 |pages= e20 |year= 2004 |pmid= 14757870 |doi=10.1136/jmg.2003.011437 | pmc=1735666  |display-authors=etal}}
*{{cite journal  | author=Peng C, Rich ED, Varnum MD |title=Subunit configuration of heteromeric cone cyclic nucleotide-gated channels. |journal=Neuron |volume=42 |issue= 3 |pages= 401-10 |year= 2004 |pmid= 15134637 |doi=  }}
*{{cite journal  | vauthors=Peng C, Rich ED, Varnum MD |title=Subunit configuration of heteromeric cone cyclic nucleotide-gated channels. |journal=Neuron |volume=42 |issue= 3 |pages= 401–10 |year= 2004 |pmid= 15134637 |doi=10.1016/S0896-6273(04)00225-9 }}
*{{cite journal  | author=Michaelides M, Aligianis IA, Ainsworth JR, ''et al.'' |title=Progressive cone dystrophy associated with mutation in CNGB3. |journal=Invest. Ophthalmol. Vis. Sci. |volume=45 |issue= 6 |pages= 1975-82 |year= 2004 |pmid= 15161866 |doi=  }}
*{{cite journal  | vauthors=Michaelides M, Aligianis IA, Ainsworth JR |title=Progressive cone dystrophy associated with mutation in CNGB3. |journal=Invest. Ophthalmol. Vis. Sci. |volume=45 |issue= 6 |pages= 1975–82 |year= 2004 |pmid= 15161866 |doi=10.1167/iovs.03-0898 |display-authors=etal}}
*{{cite journal  | author=Okada A, Ueyama H, Toyoda F, ''et al.'' |title=Functional role of hCngb3 in regulation of human cone cng channel: effect of rod monochromacy-associated mutations in hCNGB3 on channel function. |journal=Invest. Ophthalmol. Vis. Sci. |volume=45 |issue= 7 |pages= 2324-32 |year= 2004 |pmid= 15223812 |doi=  }}
*{{cite journal  | vauthors=Okada A, Ueyama H, Toyoda F |title=Functional role of hCngb3 in regulation of human cone cng channel: effect of rod monochromacy-associated mutations in hCNGB3 on channel function. |journal=Invest. Ophthalmol. Vis. Sci. |volume=45 |issue= 7 |pages= 2324–32 |year= 2004 |pmid= 15223812 |doi=10.1167/iovs.03-1094 |display-authors=etal}}
*{{cite journal  | author=Kohl S, Varsanyi B, Antunes GA, ''et al.'' |title=CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia. |journal=Eur. J. Hum. Genet. |volume=13 |issue= 3 |pages= 302-8 |year= 2005 |pmid= 15657609 |doi= 10.1038/sj.ejhg.5201269 }}
*{{cite journal  | vauthors=Kohl S, Varsanyi B, Antunes GA |title=CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia. |journal=Eur. J. Hum. Genet. |volume=13 |issue= 3 |pages= 302–8 |year= 2005 |pmid= 15657609 |doi= 10.1038/sj.ejhg.5201269 |display-authors=etal}}
*{{cite journal  | author=Nishiguchi KM, Sandberg MA, Gorji N, ''et al.'' |title=Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases. |journal=Hum. Mutat. |volume=25 |issue= 3 |pages= 248-58 |year= 2006 |pmid= 15712225 |doi= 10.1002/humu.20142 }}
*{{cite journal  | vauthors=Nishiguchi KM, Sandberg MA, Gorji N |title=Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases. |journal=Hum. Mutat. |volume=25 |issue= 3 |pages= 248–58 |year= 2006 |pmid= 15712225 |doi= 10.1002/humu.20142 |display-authors=etal}}
*{{cite journal  | author=Varsányi B, Wissinger B, Kohl S, ''et al.'' |title=Clinical and genetic features of Hungarian achromatopsia patients. |journal=Mol. Vis. |volume=11 |issue=  |pages= 996-1001 |year= 2006 |pmid= 16319819 |doi=  }}
*{{cite journal  | vauthors=Varsányi B, Wissinger B, Kohl S |title=Clinical and genetic features of Hungarian achromatopsia patients. |journal=Mol. Vis. |volume=11 |issue=  |pages= 996–1001 |year= 2006 |pmid= 16319819 |doi=  |display-authors=etal}}
*{{cite journal  | author=Bright SR, Brown TE, Varnum MD |title=Disease-associated mutations in CNGB3 produce gain of function alterations in cone cyclic nucleotide-gated channels. |journal=Mol. Vis. |volume=11 |issue=  |pages= 1141-50 |year= 2006 |pmid= 16379026 |doi=  }}
*{{cite journal  | vauthors=Bright SR, Brown TE, Varnum MD |title=Disease-associated mutations in CNGB3 produce gain of function alterations in cone cyclic nucleotide-gated channels. |journal=Mol. Vis. |volume=11 |issue=  |pages= 1141–50 |year= 2006 |pmid= 16379026 |doi=  }}
*{{cite journal  | author=Bright SR, Rich ED, Varnum MD |title=Regulation of human cone cyclic nucleotide-gated channels by endogenous phospholipids and exogenously applied phosphatidylinositol 3,4,5-trisphosphate. |journal=Mol. Pharmacol. |volume=71 |issue= 1 |pages= 176-83 |year= 2007 |pmid= 17018579 |doi= 10.1124/mol.106.026401 }}
*{{cite journal  | vauthors=Bright SR, Rich ED, Varnum MD |title=Regulation of human cone cyclic nucleotide-gated channels by endogenous phospholipids and exogenously applied phosphatidylinositol 3,4,5-trisphosphate. |journal=Mol. Pharmacol. |volume=71 |issue= 1 |pages= 176–83 |year= 2007 |pmid= 17018579 |doi= 10.1124/mol.106.026401 }}
*{{cite journal  | author=Wiszniewski W, Lewis RA, Lupski JR |title=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. |journal=Hum. Genet. |volume=121 |issue= 3-4 |pages= 433-9 |year= 2007 |pmid= 17265047 |doi= 10.1007/s00439-006-0314-y }}
*{{cite journal  | vauthors=Wiszniewski W, Lewis RA, Lupski JR |title=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. |journal=Hum. Genet. |volume=121 |issue= 3-4 |pages= 433–9 |year= 2007 |pmid= 17265047 |doi= 10.1007/s00439-006-0314-y }}
}}
}}
{{refend}}
{{refend}}


== External links ==
==External links==
* [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=achm  GeneReviews/NIH/NCBI/UW entry on Achromatopsia]
* [https://www.ncbi.nlm.nih.gov/omim/216900,139340,216900,262300,600053,600827,605080,613093,139340,216900,262300,600053,600827,605080,613093  OMIM entries on Achromatopsia]
* {{MeshName|CNGB3+protein,+human}}
* {{MeshName|CNGB3+protein,+human}}


{{membrane-protein-stub}}
{{NLM content}}
{{NLM content}}
{{Ion channels}}
{{Ion channels|g4}}
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[[Category:Ion channels]]
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Latest revision as of 17:57, 30 August 2017

VALUE_ERROR (nil)
Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

n/a

n/a

Ensembl

n/a

n/a

UniProt

n/a

n/a

RefSeq (mRNA)

n/a

n/a

RefSeq (protein)

n/a

n/a

Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Cyclic nucleotide gated channel beta 3, also known as CNGB3, is a human gene encoding an ion channel protein.[1]


See also

References

  1. ↑ "Entrez Gene: CNGB3 cyclic nucleotide gated channel beta 3".

Further reading

  • Hofmann F, Biel M, Kaupp UB (2006). "International Union of Pharmacology. LI. Nomenclature and structure-function relationships of cyclic nucleotide-regulated channels". Pharmacol. Rev. 57 (4): 455–62. doi:10.1124/pr.57.4.8. PMID 16382102.
  • Koenekoop RK, Lopez I, den Hollander AI, et al. (2007). "Genetic testing for retinal dystrophies and dysfunctions: benefits, dilemmas and solutions". Clin. Experiment. Ophthalmol. 35 (5): 473–85. doi:10.1111/j.1442-9071.2007.01534.x. PMID 17651254.
  • Pentao L, Lewis RA, Ledbetter DH, et al. (1992). "Maternal uniparental isodisomy of chromosome 14: association with autosomal recessive rod monochromacy". Am. J. Hum. Genet. 50 (4): 690–9. PMC 1682625. PMID 1347967.
  • Winick JD, Blundell ML, Galke BL, et al. (1999). "Homozygosity mapping of the Achromatopsia locus in the Pingelapese". Am. J. Hum. Genet. 64 (6): 1679–85. doi:10.1086/302423. PMC 1377911. PMID 10330355.
  • Sundin OH, Yang JM, Li Y, et al. (2000). "Genetic basis of total colourblindness among the Pingelapese islanders". Nat. Genet. 25 (3): 289–93. doi:10.1038/77162. PMID 10888875.
  • Kohl S, Baumann B, Broghammer M, et al. (2000). "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". Hum. Mol. Genet. 9 (14): 2107–16. doi:10.1093/hmg/9.14.2107. PMID 10958649.
  • Peng C, Rich ED, Thor CA, Varnum MD (2003). "Functionally important calmodulin-binding sites in both NH2- and COOH-terminal regions of the cone photoreceptor cyclic nucleotide-gated channel CNGB3 subunit". J. Biol. Chem. 278 (27): 24617–23. doi:10.1074/jbc.M301699200. PMID 12730238.
  • Peng C, Rich ED, Varnum MD (2003). "Achromatopsia-associated mutation in the human cone photoreceptor cyclic nucleotide-gated channel CNGB3 subunit alters the ligand sensitivity and pore properties of heteromeric channels". J. Biol. Chem. 278 (36): 34533–40. doi:10.1074/jbc.M305102200. PMID 12815043.
  • Johnson S, Michaelides M, Aligianis IA, et al. (2004). "Achromatopsia caused by novel mutations in both CNGA3 and CNGB3". J. Med. Genet. 41 (2): e20. doi:10.1136/jmg.2003.011437. PMC 1735666. PMID 14757870.
  • Peng C, Rich ED, Varnum MD (2004). "Subunit configuration of heteromeric cone cyclic nucleotide-gated channels". Neuron. 42 (3): 401–10. doi:10.1016/S0896-6273(04)00225-9. PMID 15134637.
  • Michaelides M, Aligianis IA, Ainsworth JR, et al. (2004). "Progressive cone dystrophy associated with mutation in CNGB3". Invest. Ophthalmol. Vis. Sci. 45 (6): 1975–82. doi:10.1167/iovs.03-0898. PMID 15161866.
  • Okada A, Ueyama H, Toyoda F, et al. (2004). "Functional role of hCngb3 in regulation of human cone cng channel: effect of rod monochromacy-associated mutations in hCNGB3 on channel function". Invest. Ophthalmol. Vis. Sci. 45 (7): 2324–32. doi:10.1167/iovs.03-1094. PMID 15223812.
  • Kohl S, Varsanyi B, Antunes GA, et al. (2005). "CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia". Eur. J. Hum. Genet. 13 (3): 302–8. doi:10.1038/sj.ejhg.5201269. PMID 15657609.
  • Nishiguchi KM, Sandberg MA, Gorji N, et al. (2006). "Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases". Hum. Mutat. 25 (3): 248–58. doi:10.1002/humu.20142. PMID 15712225.
  • Varsányi B, Wissinger B, Kohl S, et al. (2006). "Clinical and genetic features of Hungarian achromatopsia patients". Mol. Vis. 11: 996–1001. PMID 16319819.
  • Bright SR, Brown TE, Varnum MD (2006). "Disease-associated mutations in CNGB3 produce gain of function alterations in cone cyclic nucleotide-gated channels". Mol. Vis. 11: 1141–50. PMID 16379026.
  • Bright SR, Rich ED, Varnum MD (2007). "Regulation of human cone cyclic nucleotide-gated channels by endogenous phospholipids and exogenously applied phosphatidylinositol 3,4,5-trisphosphate". Mol. Pharmacol. 71 (1): 176–83. doi:10.1124/mol.106.026401. PMID 17018579.
  • Wiszniewski W, Lewis RA, Lupski JR (2007). "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". Hum. Genet. 121 (3–4): 433–9. doi:10.1007/s00439-006-0314-y. PMID 17265047.

External links

This article incorporates text from the United States National Library of Medicine, which is in the public domain.


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