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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]
BCL2L11 (BCL2 Like 11) is a Protein Coding gene. Diseases associated with BCL2L11 include Interleukin-7 Receptor Alpha Deficiency and Spastic Hemiplegia. Among its related pathways are Photodynamic therapy-induced unfolded protein response and 14-3-3 and Regulation of BAD Activity. Gene Ontology (GO) annotations related to this gene include microtubule binding. An important paralog of this gene is MEI1.
Bcl-2 family proteins contribute to programmed cell death or apoptosis. It is a large protein family and all members contain at least one of four Bcl-2 homology domains. Certain members (Bcl-2, Bcl-XL and Mcl-1) are antiapoptotic, whilst others (Bax, Bak, Bok) are proapoptotic.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 14596824 |
GO:0008017 | microtubule binding | IBA | 21873635 |
GO:0019901 | protein kinase binding | IEA | -- |
GO:0046982 | protein heterodimerization activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA | -- |
GO:0005739 | mitochondrion | IBA | 21873635 |
GO:0005741 | mitochondrial outer membrane | TAS | -- |
GO:0005829 | cytosol | TAS | -- |
GO:0012505 | endomembrane system | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Activation of BH3-only proteins | ||
2 | Apoptosis Modulation and Signaling |
.41
|
.31
|
3 | p75 NTR receptor-mediated signalling | ||
4 | ErbB signaling pathway | ||
5 | Apoptotic Pathways in Synovial Fibroblasts |
Cellular Apoptosis Pathway
.85
|
Mitochondrial Apoptosis
.85
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001701 | in utero embryonic development | IEA | -- |
GO:0001776 | leukocyte homeostasis | IEA | -- |
GO:0001782 | B cell homeostasis | IEA | -- |
GO:0001783 | B cell apoptotic process | IEA | -- |
GO:0001822 | kidney development | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
imatinib | Approved | Pharma | Kinase Inhibitors, SRC/BCR-ABL tyrosine kinase inhibitors | 0 | ||
corticosteroids | Pharma | 0 | ||||
BAM7 | Pharma | BAX activator,direct and selective, Selective Bax activator; induces Bax-mediated apoptosis | 0 | |||
TW 37 | Pharma | Bcl-2 inhibitor, inhibits Bcl-2,Bcl-XL and Mcl-1, Bcl-2 inhibitor; induces apoptosis | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
AT 101 |
|
90141-22-3 |
|
|
||
SMBA 1 |
|
906440-37-7 |
|
|
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | ||||||||||||||||
SP2: | - | - | - | ||||||||||||||||
SP3: | - | - | |||||||||||||||||
SP4: | - | - | |||||||||||||||||
SP5: | - | - | - | - | |||||||||||||||
SP6: | |||||||||||||||||||
SP7: | - | - | - | - | - | ||||||||||||||
SP8: | - | - | - | - | - | - |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | BCL2L11 33 |
|
OneToOne | |
dog (Canis familiaris) |
Mammalia | LOC612867 32 |
|
||
BCL2L11 33 |
|
OneToOne | |||
mouse (Mus musculus) |
Mammalia | Bcl2l11 17 33 32 |
|
||
rat (Rattus norvegicus) |
Mammalia | Bcl2l11 32 |
|
||
cow (Bos Taurus) |
Mammalia | BCL2L11 33 |
|
OneToOne | |
oppossum (Monodelphis domestica) |
Mammalia | BCL2L11 33 |
|
OneToOne | |
platypus (Ornithorhynchus anatinus) |
Mammalia | BCL2L11 33 |
|
OneToOne | |
lizard (Anolis carolinensis) |
Reptilia | BCL2L11 33 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | bcl2l11 32 |
|
SNP ID | Clin | Chr 02 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1000051965 | -- | 111,132,891(+) | T/A | genic_downstream_transcript_variant, intron_variant | |
rs1000162427 | -- | 111,161,935(+) | T/G | genic_downstream_transcript_variant, intron_variant | |
rs1000266649 | -- | 111,146,536(+) | A/G | downstream_transcript_variant, genic_downstream_transcript_variant, intron_variant | |
rs1000276609 | -- | 111,162,194(+) | G/A | genic_downstream_transcript_variant, intron_variant | |
rs1000391173 | -- | 111,128,916(+) | G/T | downstream_transcript_variant, genic_downstream_transcript_variant, intron_variant |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv4047n100 | CNV | loss | 25217958 |
esv2667742 | CNV | deletion | 23128226 |
esv2720516 | CNV | deletion | 23290073 |
esv2759083 | CNV | gain+loss | 17122850 |
esv3591978 | CNV | loss | 21293372 |
nsv1149522 | OTHER | inversion | 26484159 |
nsv428402 | CNV | loss | 18775914 |
nsv521956 | CNV | loss | 19592680 |
nsv582699 | CNV | loss | 21841781 |
nsv829618 | CNV | gain | 20364138 |
nsv829619 | CNV | loss | 20364138 |
nsv834331 | CNV | loss | 17160897 |
nsv963952 | CNV | deletion | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
interleukin-7 receptor alpha deficiency |
|
|
spastic hemiplegia |
|
|
ocular hyperemia |
|
|
autoimmune lymphoproliferative syndrome |
|
|
burkitt lymphoma |
|