BCL2 (GeneID: 596) | Homo sapiens
Description: BCL2, apoptosis regulator [Source:HGNC Symbol;Acc:HGNC:990]
Synonyms: Bcl-2, PPP1R50
Other ID(s): HGNC:990, ENSG00000171791
Protein Accession Numbers: ENST00000444484, NP_000624, ENST00000398117, ENST00000589955, ENST00000333681, NP_000648
Statistics: ClinVar(1) gnomAD(418) COSMIC(3273) PTM(8)
ClinVar Pathogenicity of Variations help

∙ Please click the name of species for the protein accession number used in the alignment.
∙ A p letter used as a pointer to positions of post translational modifications in human.
∙ Protein domains illustrated above belong to Homo sapiens (Human).
∙ ClinVar stacked bar chart represents whole protein isoforms of the gene. Please, check the other protein isoforms of the gene below.
∙ If more than one transcripts below are active (with blue background color), it means all the active transcripts have the same sequence.
ENST00000333681 You are here now! ENST00000398117 You are here now! ENST00000444484 ENST00000589955 NP_000624 You are here now! NP_000648


import_contactsClinVar Data
Variation ID filter_list Allele ID filter_list RS Number filter_list Variant Type filter_list Record filter_list Alteration filter_list Clinicial Sig. filter_list Last Update filter_list Phenotypes filter_list Cytogenetic filter_list Review Status filter_list RCV Acc.N. filter_list

healinggnomAD
Variant ID filter_list Transcript ID filter_list Alteration filter_list Annotation filter_list Allele C. filter_list Allele N. filter_list Allele F. filter_list rsNumber filter_list Flagsfilter_list Filter filter_list

placePost-translational Modifications (PTMs)
Gene Name filter_list ACC ID filter_list PTM Type filter_list Position filter_list Mod-rsd filter_list Site +/-7 Aa filter_list Mw_kd filter_list Site grpID filter_list

blur_onCatalogue of Somatic Mutations in Cancer (COSMIC)
Gene Name filter_list Transcript ID filter_list Sample name filter_list Primary Site filter_list Primary Histology filter_list Mutation ID filter_list Mutation CDS filter_list Mutation Aa filter_list Mutation Desc. filter_list FATHMM Prediction filter_list FATHMM Score filter_list Mutation Somatic Status filter_list PUBMED PMID filter_list Tumor Origin filter_list Position filter_list

chrome_reader_modedbSNP
Gene ID filter_list Transcript ID filter_list Consequence filter_list Position filter_list HGVSp filter_list Impact filter_list

format_align_centerProtein Domains (PFAM)
Pfam Domain filter_list Domain Name filter_list Description filter_list Positions filter_list Clan filter_list Clan Name filter_list Organism filter_list
NO RESULT FOUND
PF00452 Bcl-2 Apoptosis regulator proteins, Bcl-2 family 97-195 CL0551 BCLiA Homo sapiens
PF02180 BH4 Bcl-2 homology region 4 8-32 Homo sapiens

view_listList of the diseases from DisGeNET
Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
Adenocarcinoma Neoplasms ; 0.312 0.862
Adenoma Neoplasms ; 0.312 0.862
Alloxan Diabetes Nutritional and Metabolic Diseases ; Endocrine System Diseases ; 0.312 0.862
Alzheimer's Disease Nervous System Diseases ; Mental Disorders ; 0.312 0.862
Asthma Respiratory Tract Diseases ; Immune System Diseases ; 0.312 0.862
Autistic Disorder Mental Disorders ; 0.312 0.862
Azoospermia Male Urogenital Diseases ; 0.312 0.862
Bipolar Disorder Mental Disorders ; 0.312 0.862
Malignant neoplasm of breast Neoplasms ; Skin and Connective Tissue Diseases ; 0.312 0.862
Carcinoma Neoplasms ; 0.312 0.862
Malignant tumor of colon Neoplasms ; Digestive System Diseases ; 0.312 0.862
Neoplastic Cell Transformation Neoplasms ; Pathological Conditions, Signs and Symptoms ; 0.312 0.862
Colonic Neoplasms Neoplasms ; Digestive System Diseases ; 0.312 0.862
Colorectal Carcinoma Neoplasms ; Digestive System Diseases ; 0.312 0.862
Colorectal Neoplasms Neoplasms ; Digestive System Diseases ; 0.312 0.862
Presenile dementia Nervous System Diseases ; Mental Disorders ; 0.312 0.862
Depressive disorder Mental Disorders ; 0.312 0.862
Contact Dermatitis Skin and Connective Tissue Diseases ; 0.312 0.862
Diabetes Mellitus, Experimental Nutritional and Metabolic Diseases ; Endocrine System Diseases ; 0.312 0.862
Diabetes Mellitus, Non-Insulin-Dependent Nutritional and Metabolic Diseases ; Endocrine System Diseases ; 0.312 0.862
Dyschondroplasias Musculoskeletal Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.312 0.862
Esophageal Neoplasms Neoplasms ; Digestive System Diseases ; 0.312 0.862
Fetal Alcohol Syndrome Female Urogenital Diseases and Pregnancy Complications ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Chemically-Induced Disorders ; 0.312 0.862
gallbladder neoplasm Neoplasms ; Digestive System Diseases ; 0.312 0.862
Head and Neck Neoplasms Neoplasms ; 0.312 0.862
Head Neoplasms Neoplasms ; 0.312 0.862
Hepatoma, Morris Neoplasms ; Digestive System Diseases ; 0.312 0.862
Hepatoma, Novikoff Neoplasms ; Digestive System Diseases ; 0.312 0.862
Hypertensive disease Cardiovascular Diseases ; 0.312 0.862
Male infertility Male Urogenital Diseases ; 0.312 0.862
Intestinal Neoplasms Neoplasms ; Digestive System Diseases ; 0.312 0.862
Learning Disorders Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Mental Disorders ; 0.312 0.862
Chronic Lymphocytic Leukemia Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ; 0.312 0.862
Leukemia, Myelocytic, Acute Neoplasms ; 0.312 0.862
Liver Cirrhosis, Alcoholic Digestive System Diseases ; Chemically-Induced Disorders ; 0.312 0.862
Liver Neoplasms, Experimental Neoplasms ; Digestive System Diseases ; 0.312 0.862
Lymphoma Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ; 0.312 0.862
Lymphoma, Follicular Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ; 0.312 0.862
Reticulosarcoma Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ; 0.312 0.862
Lymphoma, Mixed-Cell Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ; 0.312 0.862
Lymphoma, Non-Hodgkin Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ; 0.312 0.862
Lymphoma, Undifferentiated Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ; 0.312 0.862
Melnick-Needles Syndrome Musculoskeletal Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.312 0.862
Memory Disorders Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; 0.312 0.862
Metaplasia Pathological Conditions, Signs and Symptoms ; 0.312 0.862
Multiple Epiphyseal Dysplasia Musculoskeletal Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.312 0.862
Multiple Myeloma Neoplasms ; Cardiovascular Diseases ; Hemic and Lymphatic Diseases ; Immune System Diseases ; 0.312 0.862
Acute Myeloid Leukemia, M1 Neoplasms ; 0.312 0.862
Myocardial Infarction Cardiovascular Diseases ; 0.312 0.862
Neck Neoplasms Neoplasms ; 0.312 0.862
Necrosis Pathological Conditions, Signs and Symptoms ; 0.312 0.862
Nerve Degeneration Pathological Conditions, Signs and Symptoms ; 0.312 0.862
Osteochondrodysplasias Musculoskeletal Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.312 0.862
Polycystic Ovary Syndrome Neoplasms ; Female Urogenital Diseases and Pregnancy Complications ; Endocrine System Diseases ; 0.312 0.862
Prostatic Neoplasms Neoplasms ; Male Urogenital Diseases ; 0.312 0.862
Reperfusion Injury Cardiovascular Diseases ; Pathological Conditions, Signs and Symptoms ; 0.312 0.862
Retinal Degeneration Eye Diseases ; 0.312 0.862
Schizophrenia Mental Disorders ; 0.312 0.862
Schwartz-Jampel Syndrome Musculoskeletal Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.312 0.862
Soft Tissue Neoplasms Neoplasms ; 0.312 0.862
Spondyloepiphyseal Dysplasia Musculoskeletal Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.312 0.862
Streptozotocin Diabetes Nutritional and Metabolic Diseases ; Endocrine System Diseases ; 0.312 0.862
synovial sarcoma Neoplasms ; 0.312 0.862
High Grade Lymphoma (neoplasm) Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ; 0.312 0.862
Lymphoma, Intermediate-Grade Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ; 0.312 0.862
Diffuse Large B-Cell Lymphoma Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ; 0.312 0.862
Lymphoma, Large-Cell, Follicular Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ; 0.312 0.862
Low Grade Lymphoma (neoplasm) Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ; 0.312 0.862
Diffuse Mixed-Cell Lymphoma Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ; 0.312 0.862
Lymphoma, Mixed-Cell, Follicular Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ; 0.312 0.862
Lymphoma, Small Cleaved-Cell, Follicular Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ; 0.312 0.862
Lymphoma, Small Noncleaved-Cell Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ; 0.312 0.862
Experimental Hepatoma Neoplasms ; Digestive System Diseases ; 0.312 0.862
Malignant neoplasm of gallbladder Neoplasms ; Digestive System Diseases ; 0.312 0.862
Contact hypersensitivity Skin and Connective Tissue Diseases ; 0.312 0.862
Dermatitis, Allergic Contact Skin and Connective Tissue Diseases ; Immune System Diseases ; 0.312 0.862
Adenocarcinoma, Basal Cell Neoplasms ; 0.312 0.862
Adenocarcinoma, Oxyphilic Neoplasms ; 0.312 0.862
Carcinoma, Cribriform Neoplasms ; 0.312 0.862
Carcinoma, Granular Cell Neoplasms ; 0.312 0.862
Adenocarcinoma, Tubular Neoplasms ; 0.312 0.862
Adenoma, Basal Cell Neoplasms ; 0.312 0.862
Follicular adenoma Neoplasms ; 0.312 0.862
Adenoma, Microcystic Neoplasms ; 0.312 0.862
Adenoma, Monomorphic Neoplasms ; 0.312 0.862
Papillary adenoma Neoplasms ; 0.312 0.862
Adenoma, Trabecular Neoplasms ; 0.312 0.862
Anaplastic carcinoma Neoplasms ; 0.312 0.862
Carcinoma, Spindle-Cell Neoplasms ; 0.312 0.862
Undifferentiated carcinoma Neoplasms ; 0.312 0.862
Carcinomatosis Neoplasms ; 0.312 0.862
Mesenchymal Chondrosarcoma Neoplasms ; 0.312 0.862
Adenocarcinoma, Clear Cell Neoplasms ; 0.312 0.862
Memory impairment Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; 0.312 0.862
Disease Exacerbation Pathological Conditions, Signs and Symptoms ; 0.312 0.862
Erectile dysfunction Male Urogenital Diseases ; Mental Disorders ; 0.312 0.862
Familial Alzheimer Disease (FAD) Nervous System Diseases ; Mental Disorders ; 0.312 0.862
AIDS with Kaposi's sarcoma Bacterial Infections and Mycoses ; Virus Diseases ; Parasitic Diseases ; Neoplasms ; Immune System Diseases ; 0.312 0.862
Malignant Head and Neck Neoplasm Neoplasms ; 0.312 0.862
Angioendotheliomatosis N/A 0.312 0.862
Malignant mesothelioma Neoplasms ; Respiratory Tract Diseases ; 0.312 0.862
Intestinal Cancer Neoplasms ; Digestive System Diseases ; 0.312 0.862
Malignant neoplasm of prostate Neoplasms ; Male Urogenital Diseases ; 0.312 0.862
Van Buchem disease Musculoskeletal Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.312 0.862
Alzheimer Disease, Late Onset Nervous System Diseases ; Mental Disorders ; 0.312 0.862
Acute Confusional Senile Dementia Nervous System Diseases ; Mental Disorders ; 0.312 0.862
Malignant neoplasm of esophagus Neoplasms ; Digestive System Diseases ; 0.312 0.862
Breast Carcinoma Neoplasms ; Skin and Connective Tissue Diseases ; 0.312 0.862
Cancer of Neck Neoplasms ; 0.312 0.862
Alzheimer's Disease, Focal Onset Nervous System Diseases ; Mental Disorders ; 0.312 0.862
Alzheimer Disease, Early Onset Nervous System Diseases ; Mental Disorders ; 0.312 0.862
Cancer of Head Neoplasms ; 0.312 0.862
Adult Learning Disorders Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Mental Disorders ; 0.312 0.862
Learning Disturbance Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Mental Disorders ; 0.312 0.862
Learning Disabilities Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Mental Disorders ; 0.312 0.862
Age-Related Memory Disorders Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; 0.312 0.862
Memory Disorder, Semantic Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; 0.312 0.862
Memory Disorder, Spatial Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; 0.312 0.862
Memory Loss Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; 0.312 0.862
Subfertility, Male Male Urogenital Diseases ; 0.312 0.862
Bipolar I disorder N/A 0.312 0.862
Upper Aerodigestive Tract Neoplasms Neoplasms ; 0.312 0.862
Male sterility Male Urogenital Diseases ; 0.312 0.862
Sclerocystic Ovaries Neoplasms ; Female Urogenital Diseases and Pregnancy Complications ; Endocrine System Diseases ; 0.312 0.862
Mammary Neoplasms, Human Neoplasms ; Skin and Connective Tissue Diseases ; 0.312 0.862
Developmental Academic Disorder Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Mental Disorders ; 0.312 0.862
Mammary Neoplasms Neoplasms ; Skin and Connective Tissue Diseases ; 0.312 0.862
Colorectal Cancer Neoplasms ; Digestive System Diseases ; 0.312 0.862
Acute Myeloid Leukemia (AML-M2) Neoplasms ; 0.312 0.862
Lymphoma, Follicular, Grade 1 Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ; 0.312 0.862
Lymphoma, Follicular, Grade 3 Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ; 0.312 0.862
Lymphoma, Follicular, Grade 2 Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ; 0.312 0.862
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ; 0.312 0.862
Cerebral Hemorrhage Nervous System Diseases ; Cardiovascular Diseases ; Pathological Conditions, Signs and Symptoms ; 0.312 0.862
Fetal Alcohol Spectrum Disorders Female Urogenital Diseases and Pregnancy Complications ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Chemically-Induced Disorders ; 0.312 0.862
Spondyloepiphyseal Dysplasia Tarda, X-Linked Musculoskeletal Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.312 0.862
Lymphoma, Diffuse Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ; 0.312 0.862
NO RESULT FOUND
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