BCL2L1


Summary: 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 proteins encoded by this gene are located at the outer mitochondrial membrane, and have been shown to regulate outer mitochondrial membrane channel (VDAC) opening. VDAC regulates mitochondrial membrane potential, and thus controls the production of reactive oxygen species and release of cytochrome C by mitochondria, both of which are the potent inducers of cell apoptosis. Alternative splicing results in multiple transcript variants encoding two different isoforms. The longer isoform acts as an apoptotic inhibitor and the shorter isoform acts as an apoptotic activator. [provided by RefSeq, Dec 2015].

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Name
OMIM ID
Ensembl ID
HGNC ID
PHARMGKB ID
Map Location
OMIM IDMIM:600039
PHARMGKB IDPA76
Map Location20q11.21

GO terms in BCL2L1


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Term Type
Evidence Type
GO Term ID
GO Des.
CC IDA GO:0005737 cytoplasm
CC IDA GO:0005739 mitochondrion
CC IBA GO:0005741 mitochondrial outer membrane
CC NAS GO:0005741 mitochondrial outer membrane
CC TAS GO:0005741 mitochondrial outer membrane
CC IEA GO:0005743 mitochondrial inner membrane
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Gene expression in normal tissue: BCL2L1

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

undefined25Apoptosis regulation2Biosynthesis of secondary metabolites1Other, kinases1Longevity regulating pathway1WNT signaling1Cell cycle1PI3K/MTOR signaling1Chromatin histone acetylation1

Pathways in BCL2L1


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Database
Pathway ID
Pathway Des.
pid atf2_pathway ATF-2 transcription factor network
pid caspase_pathway Caspase Cascade in Apoptosis
pid cd40_pathway CD40/CD40L signaling
pid epopathway EPO signaling pathway
pid erbb1_downstream_pathway ErbB1 downstream signaling
pid il2_pi3kpathway IL2 signaling events mediated by PI3K
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Gene-Drug: Aster Plot


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Drug ID
Drug Name
Model Num.
iGMDRD698 Neratinib 1
iGMDRD435 BI-2536 1
iGMDRD116 CD437 2
iGMDRD150 RITA 1
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Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in BCL2L1

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Model
Level
Reference ID
Tissue
Cancer
Drug
Clinical Response
Source
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