Gene:
BCL2
B-cell CLL/lymphoma 2

PharmGKB contains no dosing guidelines for this . To report known genotype-based dosing guidelines, or if you are interested in developing guidelines, click here.

PharmGKB has no annotated drug labels with pharmacogenomic information for this . If you know of a drug label with PGx, send us a message.

PharmGKB contains no Clinical Variants that meet the highest level of criteria.

To see more Clinical Variants with lower levels of criteria, click the button at the bottom of the table.

Disclaimer: The PharmGKB's clinical annotations reflect expert consensus based on clinical evidence and peer-reviewed literature available at the time they are written and are intended only to assist clinicians in decision-making and to identify questions for further research. New evidence may have emerged since the time an annotation was submitted to the PharmGKB. The annotations are limited in scope and are not applicable to interventions or diseases that are not specifically identified.

The annotations do not account for individual variations among patients, and cannot be considered inclusive of all proper methods of care or exclusive of other treatments. It remains the responsibility of the health-care provider to determine the best course of treatment for a patient. Adherence to any guideline is voluntary, with the ultimate determination regarding its application to be made solely by the clinician and the patient. PharmGKB assumes no responsibility for any injury or damage to persons or property arising out of or related to any use of the PharmGKB clinical annotations, or for any errors or omissions.

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This is a non-comprehensive list of genetic tests with pharmacogenetics relevance, typically submitted by the manufacturer and manually curated by PharmGKB. The information listed is provided for educational purposes only and does not constitute an endorsement of any listed test or manufacturer.

A more complete listing of genetic tests is found at the Genetic Testing Registry (GTR).

PGx Test Variants Assayed Related Drugs?

The table below contains information about pharmacogenomic variants on PharmGKB. Please follow the link in the "Variant" column for more information about a particular variant. Each link in the "Variant" column leads to the corresponding PharmGKB Variant Page. The Variant Page contains summary data, including PharmGKB manually curated information about variant-drug pairs based on individual PubMed publications. The PMIDs for these PubMed publications can be found on the Variant Page.

The tags in the first column of the table indicate what type of information can be found on the corresponding Variant Page on the appropriate tab.

Links in the "Drugs" column lead to PharmGKB Drug Pages.

List of all BCL2 variant annotations

Variant?
(142)
Alternate Names ? Drugs ? Alleles ?
(+ chr strand)
Function ? Amino Acid?
Translation
No VIP available No Clinical Annotations available VA
rs1800477 127G>A, 5841G>A, 60985773C>T, 8776637C>T, Ala43Thr
C > T
Missense
Ala43Thr
No VIP available CA VA
rs2849380 12254G>A, 585+5955G>A, 60979360C>T, 8770224C>T
C > T
Intronic
Alleles, Functions, and Amino Acid Translations are all sourced from dbSNP 142

Overview

Alternate Names:  protein phosphatase 1, regulatory subunit 50
Alternate Symbols:  Bcl-2; PPP1R50
PharmGKB Accession Id: PA25302

Details

Cytogenetic Location: chr18 : q21.33 - q21.33
GP mRNA Boundary: chr18 : 60790579 - 60986613
GP Gene Boundary: chr18 : 60787579 - 60996613
Strand: minus
The mRNA boundaries are calculated using the gene's default feature set from NCBI, mapped onto the UCSC Golden Path. PharmGKB sets gene boundaries by expanding the mRNA boundaries by no less than 10,000 bases upstream (5') and 3,000 bases downstream (3') to allow for potential regulatory regions.

PharmGKB Curated Pathways

Pathways created internally by PharmGKB based primarily on literature evidence.

  1. Vinka Alkaloid Pathway, Pharmacokinetics
    Representation of the genes involved in the metabolism, transport, and downstream effects of the vinca alkaloid vincristine.

External Pathways

Links to non-PharmGKB pathways.

  1. Activation of BAD and translocation to mitochondria - (Reactome via Pathway Interaction Database)
  2. apoptotic signaling in response to dna damage - (BioCarta via Pathway Interaction Database)
  3. BH3-only proteins associate with and inactivate anti-apoptotic BCL-2 members - (Reactome via Pathway Interaction Database)
  4. Caspase cascade in apoptosis - (Pathway Interaction Database NCI-Nature Curated)
  5. ceramide signaling pathway - (BioCarta via Pathway Interaction Database)
  6. Ceramide signaling pathway - (Pathway Interaction Database NCI-Nature Curated)
  7. EPO signaling pathway - (Pathway Interaction Database NCI-Nature Curated)
  8. FAS signaling pathway (CD95) - (Pathway Interaction Database NCI-Nature Curated)
  9. hiv-1 nef: negative effector of fas and tnf - (BioCarta via Pathway Interaction Database)
  10. HIV-1 Nef: Negative effector of Fas and TNF-alpha - (Pathway Interaction Database NCI-Nature Curated)
  11. il-2 receptor beta chain in t cell activation - (BioCarta via Pathway Interaction Database)
  12. il-7 signal transduction - (BioCarta via Pathway Interaction Database)
  13. IL2 signaling events mediated by PI3K - (Pathway Interaction Database NCI-Nature Curated)
  14. IL2 signaling events mediated by STAT5 - (Pathway Interaction Database NCI-Nature Curated)
  15. IL2-mediated signaling events - (Pathway Interaction Database NCI-Nature Curated)
  16. inhibition of cellular proliferation by gleevec - (BioCarta via Pathway Interaction Database)
  17. keratinocyte differentiation - (BioCarta via Pathway Interaction Database)
  18. melanocyte development and pigmentation pathway - (BioCarta via Pathway Interaction Database)
  19. p53 signaling pathway - (BioCarta via Pathway Interaction Database)
  20. prion pathway - (BioCarta via Pathway Interaction Database)
  21. regulation of bad phosphorylation - (BioCarta via Pathway Interaction Database)
  22. Role of Calcineurin-dependent NFAT signaling in lymphocytes - (Pathway Interaction Database NCI-Nature Curated)
  23. role of mitochondria in apoptotic signaling - (BioCarta via Pathway Interaction Database)
  24. RXR and RAR heterodimerization with other nuclear receptor - (Pathway Interaction Database NCI-Nature Curated)
  25. Signaling events mediated by Stem cell factor receptor (c-Kit) - (Pathway Interaction Database NCI-Nature Curated)
  26. stress induction of hsp regulation - (BioCarta via Pathway Interaction Database)
  27. telomeres telomerase cellular aging and immortality - (BioCarta via Pathway Interaction Database)
  28. transcription regulation by methyltransferase of carm1 - (BioCarta via Pathway Interaction Database)
No related genes are available

Curated Information ?

Evidence Drug Class
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
interferons

Curated Information ?

Publications related to BCL2: 21

No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
An epigenetic mechanism of resistance to targeted therapy in T cell acute lymphoblastic leukemia. Nature genetics. 2014. Knoechel Birgit, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Cumulative Genetic Risk Predicts Platinum/Taxane-Induced Neurotoxicity. Clinical cancer research : an official journal of the American Association for Cancer Research. 2013. McWhinney-Glass Sarah, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Genes involved in hemorrhagic transformations that follow recombinant t-PA treatment in stroke patients. Pharmacogenomics. 2013. Fernandez-Cadenas Israel, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Gene therapy for cisplatin-induced ototoxicity: a systematic review of in vitro and experimental animal studies. Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology. 2012. Waissbluth Sofia, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Large-scale gene-centric meta-analysis across 39 studies identifies type 2 diabetes loci. American journal of human genetics. 2012. Saxena Richa, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Genome-wide meta-analysis identifies variants associated with platinating agent susceptibility across populations. The pharmacogenomics journal. 2011. Wheeler H E, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Identification of potential pharmacogenomic markers of clinical efficacy of 5-fluorouracil in colorectal cancer. International journal of cancer. Journal international du cancer. 2011. Nobili Stefania, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Genetic variation in BCL-2 and response to interferon in hepatitis C virus type 4 patients. Clinica chimica acta; international journal of clinical chemistry. 2011. Shaker Olfat G, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Interaction networks of lithium and valproate molecular targets reveal a striking enrichment of apoptosis functional clusters and neurotrophin signaling. The pharmacogenomics journal. 2011. Gupta A, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
A large-scale candidate gene approach identifies SNPs in SOD2 and IL13 as predictive markers of response to preoperative chemoradiation in rectal cancer. The pharmacogenomics journal. 2010. Ho-Pun-Cheung A, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Prognostic assessment of three single-nucleotide polymorphisms (GNB3 825C>T, BCL2-938C>A, MCL1-386C>G) in extrahepatic cholangiocarcinoma. Cancer investigation. 2010. Fingas Christian Dominik, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
SNPs in genes coding for ROS metabolism and signalling in association with docetaxel clearance. The pharmacogenomics journal. 2010. Edvardsen H, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Association of the AA genotype of the BCL2 (-938C>A) promoter polymorphism with better survival in ovarian cancer. The International journal of biological markers. 2009. Heubner Martin, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Altered gene expression in busulfan-resistant human myeloid leukemia. Leukemia research. 2008. Valdez Benigno C, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Genomic signatures to guide the use of chemotherapeutics. Nature medicine. 2006. Potti Anil, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Bcl-2 is a prognostic marker in breast cancer independently of the Nottingham Prognostic Index. Clinical cancer research : an official journal of the American Association for Cancer Research. 2006. Callagy Grace M, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Proteasomal degradation of Runx2 shortens parathyroid hormone-induced anti-apoptotic signaling in osteoblasts. A putative explanation for why intermittent administration is needed for bone anabolism. The Journal of biological chemistry. 2003. Bellido Teresita, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Enhancement by cyclosporin A of taxol-induced apoptosis of human urinary bladder cancer cells. Urological research. 2002. Nomura Takeo, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Loss of the Bcl-2 phosphorylation loop domain is required to protect human myeloid leukemia cells from flavopiridol-mediated mitochondrial damage and apoptosis. Cancer biology & therapy. 2002. Decker Roy H, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Bcl2 is the guardian of microtubule integrity. Cancer research. 1997. Haldar S, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Inactivation of Bcl-2 by phosphorylation. Proceedings of the National Academy of Sciences of the United States of America. 1995. Haldar S, et al. PubMed

LinkOuts

Entrez Gene:
596
OMIM:
151430
UCSC Genome Browser:
NM_000633
RefSeq RNA:
NM_000633
NM_000657
RefSeq Protein:
NP_000624
NP_000648
RefSeq DNA:
AC_000061
AC_000150
NC_000018
NG_009361
NT_025028
NW_001838469
NW_927106
UniProtKB:
C9JHD5_HUMAN (C9JHD5)
BCL2_HUMAN (P10415)
Ensembl:
ENSG00000171791
GenAtlas:
BCL2
GeneCard:
BCL2
MutDB:
BCL2
ALFRED:
LO001964U
HuGE:
BCL2
Comparative Toxicogenomics Database:
596
ModBase:
P10415
HumanCyc Gene:
HS10381
HGNC:
990

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