Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
596
Gene name Gene Name - the full gene name approved by the HGNC.
BCL2 apoptosis regulator
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
BCL2
Synonyms (NCBI Gene) Gene synonyms aliases
Bcl-2, PPP1R50
Chromosome Chromosome number
18
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
18q21.33
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes an integral outer mitochondrial membrane protein that blocks the apoptotic death of some cells such as lymphocytes. Constitutive expression of BCL2, such as in the case of translocation of BCL2 to Ig heavy chain locus, is thought to be t
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT003014 hsa-miR-17-5p Luciferase reporter assay 19666108
MIRT003014 hsa-miR-17-5p Luciferase reporter assay 19666108
MIRT003011 hsa-miR-20a-5p Luciferase reporter assay 19666108
MIRT003011 hsa-miR-20a-5p Luciferase reporter assay 19666108
MIRT001800 hsa-miR-16-5p Luciferase reporter assay 17877811
Transcription factors
Transcription factor Regulation Reference
ABL1 Repression 11753601
ATF1 Unknown 10542244
ATF5 Activation 21212266
ATM Repression 16214353
BACH2 Unknown 18929412
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000209 Process Protein polyubiquitination IDA 16717086
GO:0001503 Process Ossification IEA
GO:0001541 Process Ovarian follicle development IEA
GO:0001656 Process Metanephros development IEA
GO:0001658 Process Branching involved in ureteric bud morphogenesis IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
151430 990 ENSG00000171791
Protein
UniProt ID P10415
Protein name Apoptosis regulator Bcl-2
Protein function Suppresses apoptosis in a variety of cell systems including factor-dependent lymphohematopoietic and neural cells (PubMed:1508712, PubMed:8183370). Regulates cell death by controlling the mitochondrial membrane permeability (PubMed:11368354). Ap
PDB 1G5M , 1GJH , 1YSW , 2O21 , 2O22 , 2O2F , 2W3L , 2XA0 , 4AQ3 , 4IEH , 4LVT , 4LXD , 4MAN , 5AGW , 5AGX , 5FCG , 5JSN , 5VAU , 5VAX , 5VAY , 6GL8 , 6IWB , 6O0K , 6O0L , 6O0M , 6O0O , 6O0P , 7LHB , 7Y90 , 7YA5 , 8FY1 , 8FY2 , 8HLL , 8HLM , 8HLN , 8HOG , 8HOH , 8HOI , 8HTR , 8HTS , 8IQL , 8U27 , 8VWX , 8VWZ , 8VXM , 8VXN
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02180 BH4 8 32 Bcl-2 homology region 4 Family
PF00452 Bcl-2 97 195 Apoptosis regulator proteins, Bcl-2 family Family
Tissue specificity TISSUE SPECIFICITY: Expressed in a variety of tissues.
Sequence
MAHAGRTGYDNREIVMKYIHYKLSQRGYEWDAGDVGAAPPGAAPAPGIFSSQPGHTPHPA
ASRDPVARTSPLQTPAAPGAAAGPALSPVPPVVHLTLRQAGDDFSRRYRRDFAEMSSQLH
LTPFTARGRFATVVEELFRDGVNWGRIVAFFEFGGVMCVESVNREMSPLVDNIALWMTEY
LNRHLHTWIQDNGGW
DAFVELYGPSMRPLFDFSWLSLKTLLSLALVGACITLGAYLGHK
Sequence length 239
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Diabetes Diabetes GWAS
Metabolic Syndrome Metabolic Syndrome GWAS
Lymphocytic Leukemia Lymphocytic Leukemia GWAS
Follicular lymphoma Follicular lymphoma GWAS
Associations from Text Mining
Disease Name Relationship Type References
Abortion Habitual Associate 28865602
Abortion Habitual Stimulate 39941094
Abortion Spontaneous Associate 30937706
Abortion Spontaneous Inhibit 39408839
Achalasia Addisonianism Alacrimia syndrome Associate 26892631, 26931436, 29785017, 29903764, 30210134, 31171907, 31288832, 31315646, 31518494, 32311849, 33168821, 33768318, 34289655, 34698437, 36823603
Achondroplasia Associate 12929929
Acquired Immunodeficiency Syndrome Associate 11861282, 7605982, 8644847, 9680371
Acute Aortic Syndrome Associate 33953793
Acute erythroleukemia Associate 24451410
Acute erythroleukemia Stimulate 31253168