Protein-coding gene in the species Homo sapiens
| BCL2L12 |
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| Identifiers |
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| Aliases | BCL2L12, BCL2 like 12 |
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| External IDs | OMIM: 610837; MGI: 1922986; HomoloGene: 12619; GeneCards: BCL2L12; OMA:BCL2L12 - orthologs |
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| Gene location (Human) |
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 | | Chr. | Chromosome 19 (human)[1] |
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| | Band | 19q13.33 | Start | 49,665,142 bp[1] |
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| End | 49,673,916 bp[1] |
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| Gene location (Mouse) |
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 | | Chr. | Chromosome 7 (mouse)[2] |
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| | Band | 7|7 B3 | Start | 44,640,646 bp[2] |
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| End | 44,648,136 bp[2] |
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| RNA expression pattern |
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| Bgee | | Human | Mouse (ortholog) |
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| Top expressed in | - gonad
- gastrocnemius muscle
- muscle of thigh
- mucosa of transverse colon
- granulocyte
- testicle
- oocyte
- right lobe of liver
- appendix
- right ovary
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| | Top expressed in | - spermatocyte
- hand
- ventricular zone
- yolk sac
- maxillary prominence
- mandibular prominence
- ascending aorta
- epiblast
- foot
- genital tubercle
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| | More reference expression data |
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| BioGPS | |
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| Gene ontology |
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| Molecular function | - p53 binding
- protein binding
| | Cellular component | | | Biological process | - negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator
- positive regulation of transcription by RNA polymerase II
- inhibition of cysteine-type endopeptidase activity involved in apoptotic process
- negative regulation of cellular senescence
- apoptotic process
- regulation of apoptotic process
| | Sources:Amigo / QuickGO |
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| Orthologs |
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| Species | Human | Mouse |
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| Entrez | | |
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| Ensembl | | |
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| UniProt | | |
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| RefSeq (mRNA) | NM_001040668
NM_001282516
NM_001282517
NM_001282519
NM_001282520
|
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NM_001282521
NM_138639
NM_001385706 |
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| RefSeq (protein) | NP_001035758
NP_001269445
NP_001269446
NP_001269448
NP_001269449
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NP_001269450
NP_619580 |
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| Location (UCSC) | Chr 19: 49.67 – 49.67 Mb | Chr 7: 44.64 – 44.65 Mb |
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| PubMed search | [3] | [4] |
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| Wikidata |
| View/Edit Human | View/Edit Mouse |
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Bcl-2-like protein 12 is a protein that in humans is encoded by the BCL2L12 gene.[5][6]
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. This protein contains a Bcl-2 homology domain 2 (BH2). The function of this gene has not yet been determined. Two alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported.[5]
Bcl2L12 expression is upregulated in most human glioblastomas. Expression of Bcl2L12 results in resistance to apoptosis. Bcl2L12 directly neutralizes caspase-7 (CASP7) and indirectly neutralizes caspase-3 (CASP3) by an indirect mechanism.[7] Both caspase enzymes are known to play essential roles in the execution phase of apoptosis.[8]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000126453 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000003190 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ a b "Entrez Gene: Bcl2L12 Bcl2-like 12 (proline rich)".
- ^ Scorilas A, Kyriakopoulou L, Yousef GM, Ashworth LK, Kwamie A, Diamandis EP (March 2001). "Molecular cloning, physical mapping, and expression analysis of a novel gene, BCL2L12, encoding a proline-rich protein with a highly conserved BH2 domain of the Bcl-2 family". Genomics. 72 (2): 217–21. doi:10.1006/geno.2000.6455. PMID 11401436.
- ^ Stegh AH, Kim H, Bachoo RM, Forloney KL, Zhang J, Schulze H, Park K, Hannon GJ, Yuan J, Louis DN, DePinho RA, Chin L (January 2007). "Bcl2L12 inhibits post-mitochondrial apoptosis signaling in glioblastoma". Genes Dev. 21 (1): 98–111. doi:10.1101/gad.1480007. PMC 1759904. PMID 17210792.
- ^ Wilson MR (August 1998). "Apoptosis: unmasking the executioner". Cell Death Differ. 5 (8): 646–52. doi:10.1038/sj.cdd.4400394. PMID 10200519.
External links
Further reading
- Hammond PW, Alpin J, Rise CE, et al. (2001). "In vitro selection and characterization of Bcl-X(L)-binding proteins from a mix of tissue-specific mRNA display libraries". J. Biol. Chem. 276 (24): 20898–906. doi:10.1074/jbc.M011641200. PMID 11283018.
- Scorilas A, Kyriakopoulou L, Yousef GM, et al. (2001). "Molecular cloning, physical mapping, and expression analysis of a novel gene, BCL2L12, encoding a proline-rich protein with a highly conserved BH2 domain of the Bcl-2 family". Genomics. 72 (2): 217–21. doi:10.1006/geno.2000.6455. PMID 11401436.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Talieri M, Diamandis EP, Katsaros N, et al. (2004). "Expression of BCL2L12, a new member of apoptosis-related genes, in breast tumors". Thromb. Haemost. 89 (6): 1081–8. doi:10.1055/s-0037-1613411. PMID 12783122. S2CID 44619207.
- Hillman RT, Green RE, Brenner SE (2005). "An unappreciated role for RNA surveillance". Genome Biol. 5 (2): R8. doi:10.1186/gb-2004-5-2-r8. PMC 395752. PMID 14759258.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
- Mathioudaki K, Scorilas A, Papadokostopoulou A, et al. (2005). "Expression analysis of BCL2L12, a new member of apoptosis-related genes, in colon cancer". Biol. Chem. 385 (9): 779–83. doi:10.1515/BC.2004.101. PMID 15493871. S2CID 33174333.
- Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.
- Olsen JV, Blagoev B, Gnad F, et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983. S2CID 7827573.
