| Gene Information | |
|---|---|
| Gene Name | BCL2L4 |
| Organism | Homo sapiens (Human) |
| Gene Length | 192 |
| Protein Names | Apoptosis regulator BAX (Bcl-2-like protein 4) (Bcl2-L-4) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | NA |
| Evolutionary Stage | NA |
| AlphaFoldDB | Q07812 |
| Gene Card | BAX |
| Uniprot ID | Q07812 |
| Pfam | PF00452 |
| In ASD | yes |
| Allosteric Prediction | NA |
| Ortholog in Animals | NA |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| Tissue Specificity | Expressed in a wide variety of tissues. Isoform Psi is found in glial tumors. Isoform Alpha is expressed in spleen, breast, ovary, testis, colon and brain, and at low levels in skin and lung. Isoform Sigma is expressed in spleen, breast, ovary, testis, lung, colon, brain and at low levels in skin. Isoform Alpha and isoform Sigma are expressed in pro-myelocytic leukemia, histiocytic lymphoma, Burkitt's lymphoma, T-cell lymphoma, lymphoblastic leukemia, breast adenocarcinoma, ovary adenocarcinoma, prostate carcinoma, prostate adenocarcinoma, lung carcinoma, epidermoid carcinoma, small cell lung carcinoma and colon adenocarcinoma cell lines. {ECO:0000269|PubMed:10772918, ECO:0000269|PubMed:11912183}. |
| Pharmacological Animal Models | NULL(Chimpanzee);NULL(Mouse);0.001000(Rat);NULL(Rabbit) |
| Gene Ontology (biological process) |
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| Gene Ontology (cellular component) |
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| Gene Ontology (molecular function) |
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| PDB | 1F16 (NMR - ) 2G5B (X-ray 2.30A ) 2K7W (NMR - ) 2LR1 (NMR - ) 3PK1 (X-ray 2.49A ) 3PL7 (X-ray 2.61A ) 4BD2 (X-ray 2.21A ) 4BD6 (X-ray 2.49A ) 4BD7 (X-ray 2.80A ) 4BD8 (X-ray 2.22A ) 4BDU (X-ray 3.00A ) 4S0O (X-ray 1.90A ) 4S0P (X-ray 3.25A ) 4UF2 (X-ray 3.00A ) 4ZIE (X-ray 1.80A ) 4ZIF (X-ray 2.40A ) 4ZIG (X-ray 2.20A ) 4ZIH (X-ray 2.50A ) 4ZII (X-ray 2.19A ) 5W5X (X-ray 2.50A ) 5W5Z (X-ray 2.00A ) 5W60 (X-ray 1.80A ) 5W61 (X-ray 2.30A ) 6EB6 (X-ray 2.02A ) 6L8V (NMR - ) 6L95 (NMR - ) 6TRR (X-ray 2.12A ) 6XY6 (X-ray 2.91A ) 7ADT (X-ray 2.21A ) |
| DBSNP | rs555248599 rs36017265 rs398122513 |
| Subcellular location [CC] | [Isoform Alpha]: Mitochondrion outer membrane {ECO:0000269|PubMed:25609812, ECO:0000269|PubMed:29531808}; Single-pass membrane protein {ECO:0000255}. Cytoplasm {ECO:0000269|PubMed:27558414, ECO:0000269|PubMed:29531808}. Note=Colocalizes with 14-3-3 proteins in the cytoplasm. Under stress conditions, undergoes a conformation change that causes release from JNK-phosphorylated 14-3-3 proteins and translocation to the mitochondrion membrane. Upon Sendai virus infection, recruited to the mitochondrion through interaction with IRF3 (PubMed:25609812). {ECO:0000269|PubMed:25609812}.; [Isoform Beta]: Cytoplasm.; [Isoform Gamma]: Cytoplasm.; [Isoform Delta]: Cytoplasm {ECO:0000305}. |
| Mouse PG classification | NA |
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