Cyclic nucleotide gated channel beta 3

Protein-coding gene in the species Homo sapiens
CNGB3
Identifiers
AliasesCNGB3, ACHM1, Cyclic nucleotide gated channel beta 3, cyclic nucleotide gated channel subunit beta 3
External IDsOMIM: 605080 MGI: 1353562 HomoloGene: 40908 GeneCards: CNGB3
Gene location (Human)
Chromosome 8 (human)
Chr.Chromosome 8 (human)[1]
Chromosome 8 (human)
Genomic location for CNGB3
Genomic location for CNGB3
Band8q21.3Start86,553,977 bp[1]
End86,743,675 bp[1]
Gene location (Mouse)
Chromosome 4 (mouse)
Chr.Chromosome 4 (mouse)[2]
Chromosome 4 (mouse)
Genomic location for CNGB3
Genomic location for CNGB3
Band4|4 A3Start19,280,850 bp[2]
End19,510,623 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • retinal pigment epithelium

  • Achilles tendon

  • sperm

  • corpus callosum

  • bone marrow

  • canal of the cervix

  • renal cortex

  • striated muscle tissue

  • uterine tube

  • left uterine tube
Top expressed in
  • pineal gland

  • spermatid

  • myocardium of ventricle

  • trachea

  • right ventricle

  • stria vascularis

  • neck

  • testicle

  • digastric muscle

  • blastocyst
More reference expression data
BioGPS
More reference expression data
Gene ontology
Molecular function
  • intracellular cGMP-activated cation channel activity
  • voltage-gated potassium channel activity
  • nucleotide binding
  • cGMP binding
  • intracellular cyclic nucleotide activated cation channel activity
  • intracellular cAMP-activated cation channel activity
Cellular component
  • integral component of membrane
  • photoreceptor outer segment
  • membrane
  • transmembrane transporter complex
  • integral component of plasma membrane
Biological process
  • regulation of membrane potential
  • cation transport
  • ion transport
  • cation transmembrane transport
  • signal transduction
  • visual perception
  • response to stimulus
  • potassium ion transmembrane transport
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

54714

30952

Ensembl

ENSG00000170289

ENSMUSG00000056494

UniProt

Q9NQW8

Q9JJZ9

RefSeq (mRNA)

NM_019098

NM_013927

RefSeq (protein)

NP_061971

NP_038955

Location (UCSC)Chr 8: 86.55 – 86.74 MbChr 4: 19.28 – 19.51 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Cyclic nucleotide gated channel beta 3, also known as CNGB3, is a human gene encoding an ion channel protein.[5]


See also

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000170289 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000056494 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ "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. S2CID 45853869.
  • 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. S2CID 37487873.
  • 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. S2CID 22948732.
  • 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): 20e–20. 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. S2CID 16989789.
  • 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. S2CID 10889075.
  • 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. S2CID 25496962.
  • 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. S2CID 7955648.

External links

  • GeneReviews/NIH/NCBI/UW entry on Achromatopsia
  • OMIM entries on Achromatopsia
  • CNGB3+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)

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

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Ligand-gated
Voltage-gated
Constitutively active
Proton-gated
Voltage-gated
Calcium-activated
Inward-rectifier
Tandem pore domain
Voltage-gated
Miscellaneous
Cl−: Chloride channel
H+: Proton channel
M+: CNG cation channel
M+: TRP cation channel
H2O (+ solutes): Porin
Cytoplasm: Gap junction
By gating mechanism
Ion channel class
see also disorders


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