BCL2L12

BCL2L12
Identifiers
Aliases	BCL2L12 , BCL2 like 12
External IDs	OMIM: 610837; MGI: 1922986; HomoloGene: 12619; GeneCards: BCL2L12; OMA:BCL2L12 - orthologs
Gene location (Human) Chr. Chromosome 19 (human) [1] Band 19q13.33 Start 49,665,142 bp [1] End 49,673,916 bp [1]
Gene location (Mouse) Chr. Chromosome 7 (mouse) [2] Band 7|7 B3 Start 44,640,646 bp [2] End 44,648,136 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in gonad gastrocnemius muscle muscle of thigh mucosa of transverse colon granulocyte testicle oocyte right lobe of liver appendix right ovary Top expressed in spermatocyte hand ventricular zone yolk sac maxillary prominence mandibular prominence ascending aorta epiblast foot genital tubercle More reference expression data BioGPS n/a
Gene ontology Molecular function p53 binding protein binding Cellular component membrane nucleus 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
Orthologs Species Human Mouse Entrez 83596 75736 Ensembl ENSG00000126453 ENSMUSG00000003190 UniProt Q9HB09 n/a RefSeq (mRNA) NM_001040668 NM_001282516 NM_001282517 NM_001282519 NM_001282520 NM_001282521 NM_138639 NM_001385706 NM_029410 RefSeq (protein) NP_001035758 NP_001269445 NP_001269446 NP_001269448 NP_001269449 NP_001269450 NP_619580 n/a Location (UCSC) Chr 19: 49.67 – 49.67 Mb Chr 7: 44.64 – 44.65 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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

1. GRCh38: Ensembl release 89: ENSG00000126453 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000003190 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: Bcl2L12 Bcl2-like 12 (proline rich)".
6. 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.
7. 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.
8. 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

• Human BCL2L12 genome location and BCL2L12 gene details page in the UCSC Genome Browser .

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.