Description: Homo sapiens BCL2-like 11 (apoptosis facilitator) (BCL2L11), transcript variant 14, mRNA. RefSeq Summary (NM_001204109): The protein encoded by this gene belongs to the BCL-2 protein family. BCL-2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. The protein encoded by this gene contains a Bcl-2 homology domain 3 (BH3). It has been shown to interact with other members of the BCL-2 protein family and to act as an apoptotic activator. The expression of this gene can be induced by nerve growth factor (NGF), as well as by the forkhead transcription factor FKHR-L1, which suggests a role of this gene in neuronal and lymphocyte apoptosis. Transgenic studies of the mouse counterpart suggested that this gene functions as an essential initiator of apoptosis in thymocyte-negative selection. Several alternatively spliced transcript variants of this gene have been identified. [provided by RefSeq, Jun 2013]. Transcript (Including UTRs) Position: hg19 chr2:111,878,491-111,926,022 Size: 47,532 Total Exon Count: 4 Strand: + Coding Region Position: hg19 chr2:111,881,323-111,911,385 Size: 30,063 Coding Exon Count: 2
Cholangitis, Sclerosing Espen Melum et al. Nature genetics 2011, Genome-wide association analysis in primary sclerosing cholangitis identifies two non-HLA susceptibility loci., Nature genetics.
[PubMed 21151127]
Chronic lymphocytic leukemia Di Bernardo ,et al. 2008, A genome-wide association study identifies six susceptibility loci for chronic lymphocytic leukemia, Nature genetics 2008 40- 10 : 1204-10.
[PubMed 18758461]
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on O43521-14
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
LF205885 - JP 2014500723-A/13388: Polycomb-Associated Non-Coding RNAs. LF213705 - JP 2014500723-A/21208: Polycomb-Associated Non-Coding RNAs. AK291269 - Homo sapiens cDNA FLJ75935 complete cds, highly similar to Homo sapiens BCL2-like 11 (apoptosis facilitator) (BCL2L11), transcript variant 1, mRNA. AK290377 - Homo sapiens cDNA FLJ75915 complete cds, highly similar to Homo sapiens BCL2-like 11 (apoptosis facilitator) (BCL2L11), transcript variant 6, mRNA. BC033694 - Homo sapiens BCL2-like 11 (apoptosis facilitator), mRNA (cDNA clone MGC:45206 IMAGE:5213713), complete cds. AY352518 - Homo sapiens Bcl2-interacting mediator gamma (BIM) mRNA, complete cds; alternatively spliced. AB463437 - Synthetic construct DNA, clone: pF1KB4054, Homo sapiens BCL2L11 gene for BCL2-like 11, without stop codon, in Flexi system. CU689702 - Synthetic construct Homo sapiens gateway clone IMAGE:100022741 5' read BCL2L11 mRNA. HQ447452 - Synthetic construct Homo sapiens clone IMAGE:100070781; CCSB015065_01 BCL2-like 11 (apoptosis facilitator) (BCL2L11) gene, encodes complete protein. KJ892898 - Synthetic construct Homo sapiens clone ccsbBroadEn_02292 BCL2L11 gene, encodes complete protein. AB071195 - Homo sapiens mRNA for Bim-alpha1, complete cds. AB071196 - Homo sapiens mRNA for Bim-alpha2, complete cds. AB071197 - Homo sapiens mRNA for Bim-beta1, complete cds. AB071198 - Homo sapiens mRNA for Bim-beta2, complete cds. AB071199 - Homo sapiens mRNA for Bim-beta3, complete cds. AB071200 - Homo sapiens mRNA for Bim-beta4, complete cds. AF032457 - Homo sapiens BimEL mRNA, complete cds. AF032458 - Homo sapiens BimL mRNA, complete cds. AY305714 - Homo sapiens BCL2-like 11 transcript variant 9 mRNA, complete cds; alternatively spliced. AY305715 - Homo sapiens BCL2-like 11 transcript variant 10 mRNA, complete cds; alternatively spliced. AY305716 - Homo sapiens bim beta 5 mRNA, complete cds, alternatively spliced. AY423441 - Homo sapiens BIM-alpha3 (BCL2L11) mRNA, complete cds, alternatively spliced. AY423442 - Homo sapiens BIM-alpha4 (BCL2L11) mRNA, complete cds, alternatively spliced. AY423443 - Homo sapiens BIM-alpha5 (BCL2L11) mRNA, complete cds, alternatively spliced. AY428962 - Homo sapiens BIM-BETA5 mRNA, complete cds; alternatively spliced. DQ849200 - Homo sapiens BIM-alpha6 mRNA, complete cds, alternatively spliced. DQ849201 - Homo sapiens BIM-beta6 mRNA, complete cds, alternatively spliced. DQ849202 - Homo sapiens BIM-beta7 mRNA, complete cds, alternatively spliced. JA397949 - Sequence 14 from Patent EP2331135. JA397950 - Sequence 15 from Patent EP2331135. JA397951 - Sequence 16 from Patent EP2331135. AF455755 - Homo sapiens BAM mRNA, complete cds. JD282630 - Sequence 263654 from Patent EP1572962. AF086141 - Homo sapiens full length insert cDNA clone ZA94C02. AK027160 - Homo sapiens cDNA: FLJ23507 fis, clone LNG03128. JD249454 - Sequence 230478 from Patent EP1572962. JD247957 - Sequence 228981 from Patent EP1572962. JD499553 - Sequence 480577 from Patent EP1572962. JD272659 - Sequence 253683 from Patent EP1572962. JD489829 - Sequence 470853 from Patent EP1572962. JD515517 - Sequence 496541 from Patent EP1572962. JD317268 - Sequence 298292 from Patent EP1572962. JD180550 - Sequence 161574 from Patent EP1572962. JD477508 - Sequence 458532 from Patent EP1572962. JD250972 - Sequence 231996 from Patent EP1572962. JD111440 - Sequence 92464 from Patent EP1572962. JD111441 - Sequence 92465 from Patent EP1572962. JD220356 - Sequence 201380 from Patent EP1572962. JD154468 - Sequence 135492 from Patent EP1572962. JD162447 - Sequence 143471 from Patent EP1572962. JD496414 - Sequence 477438 from Patent EP1572962. JD368797 - Sequence 349821 from Patent EP1572962. JD374498 - Sequence 355522 from Patent EP1572962. JD306131 - Sequence 287155 from Patent EP1572962. JD244338 - Sequence 225362 from Patent EP1572962. JD284125 - Sequence 265149 from Patent EP1572962. JD061435 - Sequence 42459 from Patent EP1572962. JD503365 - Sequence 484389 from Patent EP1572962. JD039554 - Sequence 20578 from Patent EP1572962. JD097950 - Sequence 78974 from Patent EP1572962. JD180935 - Sequence 161959 from Patent EP1572962. JD565761 - Sequence 546785 from Patent EP1572962. JD350727 - Sequence 331751 from Patent EP1572962. JD025224 - Sequence 6248 from Patent EP1572962. JD031994 - Sequence 13018 from Patent EP1572962. MA441462 - JP 2018138019-A/13388: Polycomb-Associated Non-Coding RNAs. MA449282 - JP 2018138019-A/21208: Polycomb-Associated Non-Coding RNAs.
Biochemical and Signaling Pathways
Reactome (by CSHL, EBI, and GO)
Protein O43521 (Reactome details) participates in the following event(s):
R-HSA-139919 Translocation of BIM to mitochondria R-HSA-139918 Phosphorylation of BIM by JNK R-HSA-205075 JNK phosphorylates BIM, BAD and other targets R-HSA-508163 BH3-only proteins associate with and inactivate anti-apoptotic BCL-2 R-HSA-508162 BH3 only proteins associate with and inactivate anti-apoptotic BCL-XL R-HSA-6802927 BRAF and RAF fusion mutant dimers are phosphorylated R-HSA-6802934 p-BRAF and RAF fusion dimers bind MAP2Ks and MAPKs R-HSA-6802932 Dissociation of BRAF/RAF fusion complex R-HSA-6802933 p-BRAF and RAF fusion dimers phosphorylate MAP2Ks R-HSA-6802935 MAPKs are phosphorylated downstream of BRAF and RAF fusion dimers R-HSA-111446 Activation of BIM and translocation to mitochondria R-HSA-193648 NRAGE signals death through JNK R-HSA-8952158 RUNX3 regulates BCL2L11 (BIM) transcription R-HSA-8862803 Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models R-HSA-114452 Activation of BH3-only proteins R-HSA-204998 Cell death signalling via NRAGE, NRIF and NADE R-HSA-8878159 Transcriptional regulation by RUNX3 R-HSA-8863678 Neurodegenerative Diseases R-HSA-111453 BH3-only proteins associate with and inactivate anti-apoptotic BCL-2 members R-HSA-109606 Intrinsic Pathway for Apoptosis R-HSA-193704 p75 NTR receptor-mediated signalling R-HSA-212436 Generic Transcription Pathway R-HSA-1643685 Disease R-HSA-6802952 Signaling by BRAF and RAF fusions R-HSA-109581 Apoptosis R-HSA-73887 Death Receptor Signalling R-HSA-73857 RNA Polymerase II Transcription R-HSA-6802957 Oncogenic MAPK signaling R-HSA-5357801 Programmed Cell Death R-HSA-162582 Signal Transduction R-HSA-74160 Gene expression (Transcription) R-HSA-5663202 Diseases of signal transduction