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BCL2L12

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Protein-coding gene in the species Homo sapiens
BCL2L12
Identifiers
AliasesBCL2L12, BCL2 like 12
External IDsOMIM: 610837; MGI: 1922986; HomoloGene: 12619; GeneCards: BCL2L12; OMA:BCL2L12 - orthologs
Gene location (Human)
Chromosome 19 (human)
Chr.Chromosome 19 (human)
Chromosome 19 (human)Genomic location for BCL2L12Genomic location for BCL2L12
Band19q13.33Start49,665,142 bp
End49,673,916 bp
Gene location (Mouse)
Chromosome 7 (mouse)
Chr.Chromosome 7 (mouse)
Chromosome 7 (mouse)Genomic location for BCL2L12Genomic location for BCL2L12
Band7|7 B3Start44,640,646 bp
End44,648,136 bp
RNA expression pattern
Bgee
HumanMouse (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
Cellular component
Biological process
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
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 MbChr 7: 44.64 – 44.65 Mb
PubMed search
Wikidata
View/Edit HumanView/Edit Mouse

Bcl-2-like protein 12 is a protein that in humans is encoded by the BCL2L12 gene.

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.

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. Both caspase enzymes are known to play essential roles in the execution phase of apoptosis.

References

  1. ^ GRCh38: Ensembl release 89: ENSG00000126453Ensembl, May 2017
  2. ^ GRCm38: Ensembl release 89: ENSMUSG00000003190Ensembl, 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

Further reading


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