| Tag | Content |
|---|---|
| UniProt Accession | BCL2_HUMAN; P10415; |
| Entrez ID | 596 |
| GenBank Protein ID | NM_000633.2; NM_000657.2; |
| GenBank Nucleotide ID | NP_000624.2; NP_000648.2; |
| Protein Name | Apoptosis regulator Bcl-2 |
| Gene Name | BCL2 |
| Organism | Homo sapiens |
| NCBI Taxa ID | 9606 |
| Functional Description | Suppresses apoptosis in a variety of cell systems including factor-dependent lymphohematopoietic and neural cells. Regulates cell death by controlling the mitochondrial membrane permeability. Appears to function in a feedback loop system with caspases. Inhibits caspase activity either by preventing the release of cytochrome c from the mitochondria and/or by binding to the apoptosis-activating factor (APAF-1). May attenuate inflammation by impairing NLRP1-inflammasome activation, hence CASP1 activation and IL1B release (PubMed:17418785). |
| Sequence (Fasta) | MAHAGRTGYD NREIVMKYIH YKLSQRGYEW DAGDVGAAPP GAAPAPGIFS SQPGHTPHPA 60 ASRDPVARTS PLQTPAAPGA AAGPALSPVP PVVHLTLRQA GDDFSRRYRR DFAEMSSQLH 120 LTPFTARGRF ATVVEELFRD GVNWGRIVAF FEFGGVMCVE SVNREMSPLV DNIALWMTEY 180 LNRHLHTWIQ DNGGWDAFVE LYGPSMRPLF DFSWLSLKTL LSLALVGACI TLGAYLGHK 240 |
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| Database | Annotation |
|---|---|
| Cancer Gene Census | NHL, CLL |
| CTD (Curated) (count: 50) (view all) | MESH:D000230
; Adenocarcinoma MESH:D018262 ; Adenocarcinoma, Clear Cell MESH:D000236 ; Adenoma MESH:C554498 ; AIDS-related Kaposi sarcoma MESH:D000544 ; Alzheimer Disease MESH:D001249 ; Asthma |
| HGMD (count: 2) | CM980213; Autoimmune disease, resistance to, association; Missense/nonsense
CR070417; Prostate cancer, reduced risk, association with; Regulatory |
| GWASdb (count: 28) (view all) | rs4987867; HDL cholesterol; cholesterol ester storage disease|cholesterol embolism|coronary artery disease
rs4987867; Triglycerides; coronary artery disease|lipid metabolism disorder|arteriosclerosis rs4987856; Chronic lymphocytic leukemia; chronic lymphocytic leukemia rs4987855; Chronic lymphocytic leukemia; chronic lymphocytic leukemia rs4987852; Chronic lymphocytic leukemia; chronic lymphocytic leukemia rs17756073; Multiple complex diseases; Null |
| PTM | Modification Sites |
|---|---|
| Phosphorylation (count: 8) (view all) | 235 ACITLGAYLGHK*** dbPAF
24 KYIHYKLSQRGYEWD dbPAF 56 FSSQPGHTPHPAASR dbPAF 69 SRDPVARTSPLQTPA dbPAF 70 RDPVARTSPLQTPAA dbPAF 74 ARTSPLQTPAAPGAA dbPAF |