| B-cell Cll/lymphoma 2 | OKDB#: 1071 |
| Symbols: | BCL2 | Species: | human | ||
| Synonyms: | ONCOGENE B-CELL LEUKEMIA 2| LEUKEMIA, CHRONIC LYMPHATIC, TYPE 2, INCLUDED| FOLLICULAR LYMPHOMA, INCLUDED| | Locus: | 18q21.3 in Homo sapiens |
|
For retrieval of Nucleotide and Amino Acid sequences please go to:
OMIM
Entrez Gene
Mammalian Reproductive Genetics Endometrium Database Resource Orthologous Genes UCSC Genome Browser GEO Profiles new! Amazonia (transcriptome data) new! R-L INTERACTIONS MGI |
| General Comment |
One of the most frequent hematologic malignancies, follicular lymphoma is associated with a reciprocal
translocation t(14;18)(q32;q21). This results in deregulated expression of a chromosome 18 gene, BCL2, which
interferes with normal apoptosis of B lymphocytes.
NCBI Summary: BCL2 is an integral inner 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. Variant 1 is represented by a 5.5 kb mRNA and includes most of exon 1 and exon 2. A 3.5 kb mRNA represents variant 2; it includes all of exon 1 and lacks exon 2 sequence. |
||||
| General function | Cell death/survival, Apoptosis, Oncogenesis | ||||
| Comment | |||||
| Cellular localization | Cytoplasmic, Mitochondrial | ||||
| Comment | |||||
| Ovarian function | Follicle atresia, Luteolysis, Germ cell development, Oogenesis | ||||
| Comment | Felici MD, et al 1999 reported the Bcl-2 and Bax regulation of apoptosis in germ cells during prenatal oogenesis in the mouse embryo. | ||||
| Expression regulated by | LH | ||||
| Comment | |||||
| Ovarian localization | Granulosa, Luteal cells, Surface epithelium | ||||
| Comment | Norihiro Sugino, et al reported the expression of Bcl-2 and Bax in the Human Corpus Luteum during the Menstrual Cycle and in Early Pregnancy and Regulation by Human Chorionic Gonadotropin. Immunohistochemistry revealed that Bcl-2 expression was observed in the luteal cells in the midluteal phase and early pregnancy, but not in the regressing CL. In contrast, Bax immunostaining was observed in the regressing CL, but not in the midluteal phase and early pregnancy. bcl-2 messenger ribonucleic acid (mRNA) levels in the CL during the menstrual cycle were highest in the midluteal phase and lowest in the regressing CL. In the CL of early pregnancy, bcl-2 mRNA levels were significantly higher than those in the midluteal phase. In contrast, bax mRNA levels were highest in the regressing CL and remarkably low in the CL of early pregnancy. When corpora lutea of the midluteal phase were incubated with hCG, hCG significantly increased the mRNA and protein levels of Bcl-2 and significantly decreased those of Bax. Chan WY, et al 2000 reported Bcl-2 and p53 protein expression, apoptosis, and p53 mutation in human epithelial ovarian cancers. Wehrli BM, 1998 reported immunohistochemical analysis of bcl-2, bax, mcl-1, and bcl-X expression in ovarian surface epithelial tumors. Johnson AL, et al reported the expression of bcl-2 and nr-13 in hen ovarian follicles during development. | ||||
| Follicle stages | Antral, Preovulatory, Corpus luteum | ||||
| Comment | Vaskivuo TE et al 2001 studied the survival of human ovarian follicles from fetal to adult life and the expression of apoptosis-related proteins, and transcription factor GATA-4. They investigated the extent and localization of apoptosis in human fetal (aged 13-40 weeks) and adult ovaries. Furthermore, the expression of apoptosis-regulating proteins, bcl-2 and bax, and the relationship of transcription factor GATA-4 were studied. Apoptosis was found in ovarian follicles throughout fetal and adult life. During fetal development, apoptosis was localized mainly to primary oocytes and was highest between weeks 14-28, decreasing thereafter toward term. Expression of bcl-2 was observed only in the youngest fetal ovaries (weeks 13-14), and bax was present in the ovaries throughout the entire fetal period. In adult ovaries, apoptosis was detected in granulosa cells of secondary and antral follicles, and Bcl-2 and bax were expressed from primary follicles onwards. During fetal ovarian development, GATA-4 messenger RNA and protein were localized to the granulosa cells, with expression being highest in the youngest ovaries and decreasing somewhat toward term. | ||||
| Phenotypes | |||||
| Mutations |
4 mutations
Species: mouse
Species: mouse
Species: mouse
Species: sow
|
||||
| Genomic Region | show genomic region | ||||
| Phenotypes and GWAS | show phenotypes and GWAS | ||||
| Links |
|
| created: | Dec. 3, 2000, 2:46 p.m. | by: |
hsueh email:
home page: |
| last update: | May 25, 2005, 6:50 a.m. | by: | hsueh email: |
Click here to return to gene search form