Human Gene BCL2L11 (uc010fkd.2)
  Description: Homo sapiens BCL2-like 11 (apoptosis facilitator) (BCL2L11), transcript variant 5, mRNA.
RefSeq Summary (NM_138625): 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: 5 Strand: +
Coding Region
   Position: hg19 chr2:111,881,323-111,887,812 Size: 6,490 Coding Exon Count: 2 

Page IndexSequence and LinksPrimersGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:111,878,491-111,926,022)mRNA (may differ from genome)Protein (75 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
HGNCLynxMalacardsMGIOMIMPubMed
ReactomeTreefamUniProtKBWikipediaBioGrid CRISPR DB

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): BCL2L11
CDC HuGE Published Literature: BCL2L11
Positive Disease Associations: Cholangitis, Sclerosing , Chronic lymphocytic leukemia , Coronary Disease , Dehydroepiandrosterone Sulfate
Related Studies:
  1. 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]
  2. 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]
  3. Coronary Disease
    , , . [PubMed 0]
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: BCL2L11
Diseases sorted by gene-association score: ocular hyperemia (8), autoimmune lymphoproliferative syndrome (5), colorectal cancer (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 10.05 RPKM in Thyroid
Total median expression: 174.79 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -94.30288-0.327 Picture PostScript Text
3' UTR -1387.024429-0.313 Picture PostScript Text

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.

-  Protein Domain and Structure Information
  Pfam Domains:
PF06773 - Bim protein N-terminus

ModBase Predicted Comparative 3D Structure on O43521-13
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Descriptions from all associated GenBank mRNAs
  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.
JD345610 - Sequence 326634 from Patent EP1572962.
JD072239 - Sequence 53263 from Patent EP1572962.
AF455755 - Homo sapiens BAM mRNA, complete cds.
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

-  Other Names for This Gene
  Alternate Gene Symbols: BIM, NM_138625, NP_619531, O43521-13
UCSC ID: uc010fkd.2
RefSeq Accession: NM_138625
Protein: O43521-13

-  Gene Model Information
 
category: coding nonsense-mediated-decay: yes RNA accession: NM_138625.3
exon count: 5CDS single in 3' UTR: no RNA size: 4952
ORF size: 228CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 283.50frame shift in genome: no % Coverage: 99.86
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.