CNGB3

Ciklični nukleotidno usidreni kanal beta 3, znan i kao CNGB3, je ljudski gen koji kodira preotein ionskog kanala.

CNGB3
Identifikatori
Aliasi	CNGB3
Vanjski ID-jevi	OMIM: 605080 MGI: 1353562 HomoloGene: 40908 GeneCards: CNGB3
Lokacija gena (čovjek) Hrom. Hromosom 8 (čovjek) Bend 8q21.3 Početak 86,553,977 bp Kraj 86,743,675 bp
Lokacija gena (miš) Hrom. Hromosom 4 (miš) Bend 4|4 A3 Početak 19,280,850 bp Kraj 19,510,623 bp
Obrazac RNK ekspresije Više referentnih podataka o ekspresiji
Ontologija gena Molekularna funkcija • 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 Ćelijska komponenta • integral component of membrane • photoreceptor outer segment • membrana • transmembrane transporter complex • integral component of plasma membrane Biološki proces • regulation of membrane potential • cation transport • ion transport • cation transmembrane transport • GO:0072468 Transdukcija signala • Vid • response to stimulus • potassium ion transmembrane transport Izvori:Amigo / QuickGO
Ortolozi
Vrste	Čovjek	Miš
Entrez	54714	30952
Ensembl	ENSG00000170289	ENSMUSG00000056494
UniProt	Q9NQW8	Q9JJZ9
RefSeq (mRNK)	NM_019098	NM_013927
RefSeq (bjelančevina)	NP_061971	NP_038955
Lokacija (UCSC)	Chr 8: 86.55 – 86.74 Mb	Chr 4: 19.28 – 19.51 Mb
PubMed pretraga
Wikipodaci
Pogledaj/uredi – čovjek Pogledaj/uredi – miš

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 809 aminokiselina, а molekulska težina 92.167 Da.

• C: Cistein
• D: Asparaginska kiselina
• E: Glutaminska kiselina
• F: Fenilalanin
• G: Glicin
• H: Histidin
• I: Izoleucin
• K: Lizin
• L: Leucin
• M: Metionin
• N: Asparagin
• P: Prolin
• Q: Glutamin
• R: Arginin
• S: Serin
• T: Treonin
• V: Valin
• W: Triptofan
• Y: Tirozin

10		20		30		40		50
MFKSLTKVNK		VKPIGENNEN		EQSSRRNEEG		SHPSNQSQQT		TAQEENKGEE
KSLKTKSTPV		TSEEPHTNIQ		DKLSKKNSSG		DLTTNPDPQN		AAEPTGTVPE
QKEMDPGKEG		PNSPQNKPPA		APVINEYADA		QLHNLVKRMR		QRTALYKKKL
VEGDLSSPEA		SPQTAKPTAV		PPVKESDDKP		TEHYYRLLWF		KVKKMPLTEY
LKRIKLPNSI		DSYTDRLYLL		WLLLVTLAYN		WNCCFIPLRL		VFPYQTADNI
HYWLIADIIC		DIIYLYDMLF		IQPRLQFVRG		GDIIVDSNEL		RKHYRTSTKF
QLDVASIIPF		DICYLFFGFN		PMFRANRMLK		YTSFFEFNHH		LESIMDKAYI
YRVIRTTGYL		LFILHINACV		YYWASNYEGI		GTTRWVYDGE		GNEYLRCYYW
AVRTLITIGG		LPEPQTLFEI		VFQLLNFFSG		VFVFSSLIGQ		MRDVIGAATA
NQNYFRACMD		DTIAYMNNYS		IPKLVQKRVR		TWYEYTWDSQ		RMLDESDLLK
TLPTTVQLAL		AIDVNFSIIS		KVDLFKGCDT		QMIYDMLLRL		KSVLYLPGDF
VCKKGEIGKE		MYIIKHGEVQ		VLGGPDGTKV		LVTLKAGSVF		GEISLLAAGG
GNRRTANVVA		HGFANLLTLD		KKTLQEILVH		YPDSERILMK		KARVLLKQKA
KTAEATPPRK		DLALLFPPKE		ETPKLFKTLL		GGTGKASLAR		LLKLKREQAA
QKKENSEGGE		EEGKENEDKQ		KENEDKQKEN		EDKGKENEDK		DKGREPEEKP
LDRPECTASP		IAVEEEPHSV		RRTVLPRGTS		RQSLIISMAP		SAEGGEEVLT
IEVKEKAKQ

Također pogledajte

• Ionski kanal
• Stargardtova bolest

Dopunska literatura

• 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.

Vanjski linkovi

• GeneReviews/NIH/NCBI/UW entry on Achromatopsia
• OMIM entries on Achromatopsia
• CNGB3 protein, human na US National Library of Medicine Medical Subject Headings (MeSH)