Homo sapiens B-cell CLL/lymphoma 2 (BCL2), nuclear gene encoding mitochondrial protein, transcript variant alpha, mRNA.
| RefSeq Version | NM_000633.2, 72198188 |
| Length | 6492 bp |
| Structure | linear |
| Update Date | 01-MAY-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens B-cell CLL/lymphoma 2 (BCL2), nuclear gene encoding mitochondrial protein, transcript variant alpha, mRNA. |
| Product | apoptosis regulator Bcl-2 alpha isoform |
| Comment | Summary: This gene encodes an integral outer mitochondrial membrane protein that blocks the apoptotic death of some cells such as lymphocytes. Constitutive expression of BCL2, such as in the case of translocation of BCL2 to Ig heavy chain locus, is thought to be the cause of follicular lymphoma. Two transcript variants, produced by alternate splicing, differ in their C-terminal ends. [provided by RefSeq]. Transcript Variant: This variant (alpha) represents the longer transcript and encodes the longer isoform (alpha). |
| RefSeq | NP_000624.2 |
| CDS | 494..1213 | Exon (1) | 1..207 | Exon (2) | 1..207 | Exon (3) | 208..1078 | Exon (4) | 1079..6492 |
| Translation | MAHAGRTGYDNREIVMKYIHYKLSQRGYEWDAGDVGAAPPGAAPAPGIFSSQPGHTPHPA
ASRDPVARTSPLQTPAAPGAAAGPALSPVPPVVHLTLRQAGDDFSRRYRRDFAEMSSQLH
LTPFTARGRFATVVEELFRDGVNWGRIVAFFEFGGVMCVESVNREMSPLVDNIALWMTEY
LNRHLHTWIQDNGGWDAFVELYGPSMRPLFDFSWLSLKTLLSLALVGACITLGAYLGHK
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| Position | Chain | Variation | Link |
| complement(18..19) | - | , t | dbSNP:34360708 |
| 65 | + | c, g | dbSNP:1473418 |
| complement(123) | - | c, a | dbSNP:34223591 |
| complement(361) | - | g, a | dbSNP:55805819 |
| complement(370) | - | t, g | dbSNP:78860833 |
| complement(452) | - | g, a | dbSNP:114373512 |
| 514 | + | a, g | dbSNP:1801018 |
| 620 | + | a, g | dbSNP:1800477 |
| complement(793) | - | g, a | dbSNP:61733416 |
| complement(863) | - | g, a | dbSNP:61733415 |
| complement(1157) | - | t, c | dbSNP:113163226 |
| complement(1315) | - | c, a | dbSNP:79240470 |
| complement(1362..1363) | - | , gt | dbSNP:34883036 |
| 1471 | + | a, t | dbSNP:4987842 |
| 1530 | + | a, g | dbSNP:4987843 |
| complement(1578) | - | c, a | dbSNP:116616724 |
| complement(1734) | - | t, g | dbSNP:113379949 |
| complement(1753) | - | c, a | dbSNP:41301945 |
| 1798 | + | a, c | dbSNP:4987844 |
| complement(1880) | - | t, c | dbSNP:3744937 |
| 1883 | + | a, g | dbSNP:4987845 |
| complement(1890) | - | t, c | dbSNP:3744936 |
| 1893 | + | a, g | dbSNP:4987846 |
| 1997 | + | a, g | dbSNP:1016860 |
| 2050 | + | a, g | dbSNP:4987847 |
| complement(2118) | - | t, c | dbSNP:116117134 |
| 2155 | + | a, g | dbSNP:4987848 |
| 2278 | + | c, t | dbSNP:2078303 |
| complement(2391) | - | t, c | dbSNP:3744935 |
| 2399 | + | g, t | dbSNP:4987849 |
| 2417 | + | a, g | dbSNP:1564483 |
| 2555 | + | a, g | dbSNP:4987850 |
| 2658 | + | a, g | dbSNP:1050618 |
| complement(2795) | - | t, a | dbSNP:113207678 |
| complement(2795) | - | , t | dbSNP:5825508 |
| complement(2803) | - | , t | dbSNP:34741396 |
| 2812 | + | a, g | dbSNP:4987851 |
| 3150 | + | a, g | dbSNP:4987852 |
| complement(3287) | - | c, a | dbSNP:76586202 |
| 3416 | + | a, g | dbSNP:4987853 |
| 3445 | + | a, g | dbSNP:4987854 |
| 3522 | + | a, g | dbSNP:4987855 |
| complement(3550) | - | t, c | dbSNP:117640948 |
| 3577 | + | a, g | dbSNP:4987856 |
| 3627 | + | c, t | dbSNP:4987857 |
| 3840 | + | a, g | dbSNP:17070680 |
| 4277 | + | c, t | dbSNP:4987858 |
| complement(4396) | - | g, a | dbSNP:41306972 |
| 4414 | + | a, g | dbSNP:4987859 |
| 4484 | + | a, g | dbSNP:4987860 |
| 4507 | + | c, t | dbSNP:4987861 |
| 4764 | + | a, g | dbSNP:4987862 |
| 4994 | + | g, t | dbSNP:4987863 |
| 5175 | + | c, t | dbSNP:45520140 |
| complement(5183..5184) | - | , a | dbSNP:67200314 |
| complement(5183) | - | t, c | dbSNP:77530335 |
| complement(5184) | - | t, a | dbSNP:76721111 |
| complement(5194..5195) | - | , a | dbSNP:34811186 |
| complement(5194) | - | t, a | dbSNP:113158648 |
| complement(5195) | - | t, a | dbSNP:77938688 |
| 5337 | + | g, t | dbSNP:4987864 |
| 5514 | + | a, g | dbSNP:4987865 |
| 5601 | + | , a | dbSNP:45489598 |
| complement(5745) | - | t, a | dbSNP:45468492 |
| 5750 | + | a, g | dbSNP:4987866 |
| 5999 | + | a, g | dbSNP:4987867 |
| complement(6021) | - | g, a | dbSNP:56041624 |
| complement(6082..6083) | - | , a | dbSNP:34143126 |
| 6262 | + | a, c | dbSNP:4987868 |
| 6326 | + | c, t | dbSNP:45503395 |
| 6341 | + | a, c | dbSNP:4987869 |
| complement(6383..6384) | - | , a | dbSNP:79620975 |
| 6384 | + | , t | dbSNP:4987870 |
| Gene Symbol | BCL2 |
| Gene Synonym | Bcl-2 |
| Chromosome | 18 |
| Locus Map | 18q21.3 |
| All Transcripts | NM_000633 , NM_000657 |
| Title | Hypoxic human cancer cells are sensitized to BH-3 mimetic-induced apoptosis via downregulation of the Bcl-2 protein Mcl-1 . |
| Author | Harrison,L.R., Micha,D., Brandenburg,M., Simpson,K.L., Morrow,C.J., Denneny,O., Hodgkinson,C., Yunus,Z., Dempsey,C., Roberts,D., Blackhall,F., Makin,G. and Dive,C. |
| Journal | J. Clin. Invest. 121 (3), 1075-1087 (2011) |
| Title | Bcl-2-interacting mediator of cell death influences autoantigen-driven deletion and TCR revision . |
| Author | Hale,J.S., Nelson,L.T., Simmons,K.B. and Fink,P.J. |
| Journal | J. Immunol. 186 (2), 799-806 (2011) |
| Title | The distinct role of guanine nucleotide exchange factor Vav1 in Bcl-2 transcription and apoptosis inhibition in Jurkat leukemia T cells . |
| Author | Yin,J., Wan,Y.J., Li,S.Y., Du,M.J., Zhang,C.Z., Zhou,X.L. and Cao,Y.J. |
| Journal | Acta Pharmacol. Sin. 32 (1), 99-107 (2011) |
| Title | Detection of B cell lymphoma 2, tumor protein 53, and FAS gene transcripts in blood cells of patients with breast cancer . |
| Author | Jaberipour,M., Habibagahi,M., Hosseini,A., Abbasi,M., Sobhani-Lari,A., Talei,A. and Ghaderi,A. |
| Journal | Indian J Cancer 47 (4), 412-417 (2010) |
| Title | Fluorescence in situ hybridization analysis and immunophenotyping of c-Kit/PDGFRA and Bcl-2 expression in gastrointestinal stromal tumors . |
| Author | Orsenigo,M., Brich,S., Riva,C., Conca,E., Bertulli,R., Dileo,P., Gronchi,A., Casali,P.G., Pierotti,M.A., Tamborini,E. and Pilotti,S. |
| Journal | Anal. Quant. Cytol. Histol. 32 (4), 225-233 (2010) |
| Title | Ultrastructural localization of bcl-2 protein . |
| Author | Monaghan,P., Robertson,D., Amos,T.A., Dyer,M.J., Mason,D.Y. and Greaves,M.F. |
| Journal | J. Histochem. Cytochem. 40 (12), 1819-1825 (1992) |
| Title | Overexpressed full-length human BCL2 extends the survival of baculovirus-infected Sf9 insect cells . |
| Author | Alnemri,E.S., Robertson,N.M., Fernandes,T.F., Croce,C.M. and Litwack,G. |
| Journal | Proc. Natl. Acad. Sci. U.S.A. 89 (16), 7295-7299 (1992) |
| Title | Bcl-2 confers growth and survival advantage to interleukin 7-dependent early pre-B cells which become factor independent by a multistep process in culture . |
| Author | Borzillo,G.V., Endo,K. and Tsujimoto,Y. |
| Journal | Oncogene 7 (5), 869-876 (1992) |
| Title | Frequent incidence of somatic mutations in translocated BCL2 oncogenes of non-Hodgkin's lymphomas . |
| Author | Tanaka,S., Louie,D.C., Kant,J.A. and Reed,J.C. |
| Journal | Blood 79 (1), 229-237 (1992) |
| Title | [Isolation of a strain of Streptococcus pneumoniae multiresistant to antibiotics] . |
| Author | Dublanchet,A. and Durieux,R. |
| Journal | Nouv Presse Med 8 (11), 872 (1979) |
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