Homo sapiens guanine nucleotide binding protein (G protein), beta polypeptide 3 (GNB3), mRNA.
| RefSeq Version | NM_002075.2, 21071080 |
| Length | 1923 bp |
| Structure | linear |
| Update Date | 09-APR-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens guanine nucleotide binding protein (G protein), beta polypeptide 3 (GNB3), mRNA. |
| Product | guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-3 |
| Comment | Summary: Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. A single-nucleotide polymorphism (C825T) in this gene is associated with essential hypertension and obesity. This polymorphism is also associated with the occurrence of the splice variant GNB3-s, which appears to have increased activity. GNB3-s is an example of alternative splicing caused by a nucleotide change outside of the splice donor and acceptor sites. Additional splice variants may exist for this gene, but they have not been fully described. [provided by RefSeq]. |
| RefSeq | NP_002066.1 |
| CDS | 406..1428 | Exon (1) | 1..210 | Exon (2) | 1..210 | Exon (3) | 211..375 | Exon (4) | 376..462 | Exon (5) | 463..501 | Exon (6) | 502..608 | Exon (7) | 609..672 | Exon (8) | 673..835 | Exon (9) | 836..902 | Exon (10) | 903..1104 | Exon (11) | 1105..1321 | Exon (12) | 1322..1923 |
| Translation | MGEMEQLRQEAEQLKKQIADARKACADVTLAELVSGLEVVGRVQMRTRRTLRGHLAKIYA
MHWATDSKLLVSASQDGKLIVWDSYTTNKVHAIPLRSSWVMTCAYAPSGNFVACGGLDNM
CSIYNLKSREGNVKVSRELSAHTGYLSCCRFLDDNNIVTSSGDTTCALWDIETGQQKTVF
VGHTGDCMSLAVSPDFNLFISGACDASAKLWDVREGTCRQTFTGHESDINAICFFPNGEA
ICTGSDDASCRLFDLRADQELICFSHESIICGITSVAFSLSGRLLFAGYDDFNCNVWDSM
KSERVGILSGHDNRVSCLGVTADGMAVATGSWDSFLKIWN
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| Position | Chain | Variation | Link |
| 41 | + | c, g | dbSNP:77419422 |
| 226 | + | c, t | dbSNP:114075135 |
| 230 | + | a, g | dbSNP:2071057 |
| 523 | + | a, g | dbSNP:45569331 |
| 545 | + | c, t | dbSNP:116400596 |
| 631 | + | a, g | dbSNP:2234756 |
| 646 | + | a, g | dbSNP:45616032 |
| 660 | + | a, g | dbSNP:28395774 |
| 806 | + | a, g | dbSNP:61747607 |
| 888 | + | a, g | dbSNP:75977062 |
| 1062 | + | a, t | dbSNP:45476395 |
| 1115 | + | a, g | dbSNP:113437937 |
| 1140 | + | a, g | dbSNP:112732503 |
| complement(1146) | - | g, a | dbSNP:13306410 |
| 1159 | + | c, t | dbSNP:28395780 |
| 1167 | + | c, t | dbSNP:2234757 |
| 1219 | + | a, g | dbSNP:5442 |
| 1230 | + | c, t | dbSNP:5443 |
| 1243 | + | c, t | dbSNP:28395776 |
| 1376 | + | a, g | dbSNP:28395775 |
| 1421 | + | g, t | dbSNP:5444 |
| 1546 | + | c, t | dbSNP:5445 |
| 1644 | + | c, t | dbSNP:117859393 |
| 1828 | + | c, t | dbSNP:5446 |
| 1883 | + | a, t | dbSNP:7975574 |
| Title | Association of single-nucleotide polymorphisms from 17 candidate genes with baseline symptom-limited exercise test duration and decrease in duration over 20 years: the Coronary Artery Risk Development in Young Adults (CARDIA) fitness study . |
| Author | Sarzynski,M.A., Rankinen,T., Sternfeld,B., Grove,M.L., Fornage,M., Jacobs,D.R. Jr., Sidney,S. and Bouchard,C. |
| Journal | Circ Cardiovasc Genet 3 (6), 531-538 (2010) |
| Title | The IFNG (IFN-gamma) genotype predicts cytogenetic and molecular response to imatinib therapy in chronic myeloid leukemia . |
| Author | Kim,D.H., Kong,J.H., Byeun,J.Y., Jung,C.W., Xu,W., Liu,X., Kamel-Reid,S., Kim,Y.K., Kim,H.J. and Lipton,J.H. |
| Journal | Clin. Cancer Res. 16 (21), 5339-5350 (2010) |
| Title | SNP-by-fitness and SNP-by-BMI interactions from seven candidate genes and incident hypertension after 20 years of follow-up: the . |
| Author | Sarzynski,M.A., Rankinen,T., Sternfeld,B., Fornage,M., Sidney,S. and Bouchard,C. |
| Journal | J Hum Hypertens (2010) In press |
| Title | The genetics of loop diuretic effects . |
| Author | Vormfelde,S.V. and Brockmoller,J. |
| Journal | Pharmacogenomics J. (2010) In press |
| Title | Beta2-adrenoceptor gene variant Arg16Gly is associated with idiopathic ventricular outflow-tract tachycardia . |
| Author | Ran,Y.Q., Li,N., Yang,Y., Chen,J.Z., Feng,L., Zhang,S. and Pu,J.L. |
| Journal | Chin. Med. J. 123 (17), 2299-2304 (2010) |
| Title | Differential ability to form the G protein betagamma complex among members of the beta and gamma subunit families . |
| Author | Yan,K., Kalyanaraman,V. and Gautam,N. |
| Journal | J. Biol. Chem. 271 (12), 7141-7146 (1996) |
| Title | Intersubunit surfaces in G protein alpha beta gamma heterotrimers. Analysis by cross-linking and mutagenesis of beta gamma . |
| Author | Garcia-Higuera,I., Thomas,T.C., Yi,F. and Neer,E.J. |
| Journal | J. Biol. Chem. 271 (1), 528-535 (1996) |
| Title | Lipid modifications of trimeric G proteins . |
| Author | Wedegaertner,P.B., Wilson,P.T. and Bourne,H.R. |
| Journal | J. Biol. Chem. 270 (2), 503-506 (1995) |
| Title | Chromosomal localization of the genes encoding two forms of the G protein beta polypeptide, beta 1 and beta 3, in man . |
| Author | Levine,M.A., Modi,W.S. and O'Brien,S.J. |
| Journal | Genomics 8 (2), 380-386 (1990) |
| Title | Molecular cloning of beta 3 subunit, a third form of the G protein beta-subunit polypeptide . |
| Author | Levine,M.A., Smallwood,P.M., Moen,P.T. Jr., Helman,L.J. and Ahn,T.G. |
| Journal | Proc. Natl. Acad. Sci. U.S.A. 87 (6), 2329-2333 (1990) |
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