Gene Gene information from NCBI Gene database.
Entrez ID 596
Gene name BCL2 apoptosis regulator
Gene symbol BCL2
Synonyms (NCBI Gene)
Bcl-2PPP1R50
Chromosome 18
Chromosome location 18q21.33
Summary 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.
942
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 factors information provided by TRRUST V2 database.
62
Transcription factor Regulation Reference
ABL1 Repression 11753601
ATF1 Unknown 10542244
ATF5 Activation 21212266
ATM Repression 16214353
BACH2 Unknown 18929412
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
228
GO ID Ontology Definition Evidence Reference
GO:0000082 Process G1/S transition of mitotic cell cycle IEA
GO:0000209 Process Protein polyubiquitination IDA 16717086
GO:0000278 Process Mitotic cell cycle IEA
GO:0000902 Process Cell morphogenesis IEA
GO:0001503 Process Ossification IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
151430 990 ENSG00000171791
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
72
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMERS DISEASE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANDROGENETIC ALOPECIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA CTD, Disgenet, GWAS catalog
CTD, Disgenet, GWAS catalog
CTD, Disgenet, GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Aarskog syndrome Aarskog Syndrome BEFREE 30391273
★☆☆☆☆
Found in Text Mining only
Achondroplasia Achondroplasia BEFREE 12929929
★☆☆☆☆
Found in Text Mining only
Achondroplasia Achondroplasia Pubtator 12929929 Associate
★☆☆☆☆
Found in Text Mining only
Acoustic Neuroma Acoustic Neuroma BEFREE 17429338
★☆☆☆☆
Found in Text Mining only
Acquired Hypogammaglobulinemia Common Variable Immunodeficiency BEFREE 11472434
★☆☆☆☆
Found in Text Mining only
Actinic keratosis Actinic keratosis LHGDN 12756585
★☆☆☆☆
Found in Text Mining only
Actinic keratosis Actinic keratosis BEFREE 28370377, 30222011, 30706457, 9335236
★☆☆☆☆
Found in Text Mining only
Acute Confusional Senile Dementia Senile Dementia CTD_human_DG 18077176
★☆☆☆☆
Found in Text Mining only
Acute Coronary Syndrome Coronary Syndrome BEFREE 23349247
★☆☆☆☆
Found in Text Mining only
Acute Erythroblastic Leukemia Erythroblastic Leukemia BEFREE 11313951, 19282832
★☆☆☆☆
Found in Text Mining only