BAX (GeneID: 581) | Homo sapiens
Description: BCL2 associated X, apoptosis regulator [Source:HGNC Symbol;Acc:HGNC:959]
Synonyms: BCL2L4
Other ID(s): HGNC:959, ENSG00000087088
Protein Accession Numbers: ENST00000356483, NP_001278359, ENST00000293288, ENST00000539787, NP_620119, ENST00000415969, NP_004315, ENST00000354470, NP_001278358, ENST00000515540, NP_620118, ENST00000391871, NP_001278360, ENST00000345358, NP_001278357, ENST00000506183, NP_620116
Statistics: ClinVar(3) gnomAD(237) COSMIC(102) PTM(17)
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.
ENST00000293288 You are here now! ENST00000345358 ENST00000354470 ENST00000356483 ENST00000391871 ENST00000415969 ENST00000506183 ENST00000515540 ENST00000539787 NP_001278357 NP_001278358 NP_001278359 NP_001278360 NP_004315 You are here now! NP_620116 NP_620118 NP_620119


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 63-158 CL0551 BCLiA Homo sapiens

view_listList of the diseases from DisGeNET
Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
Alloxan Diabetes Nutritional and Metabolic Diseases ; Endocrine System Diseases ; 0.45 0.862
Alzheimer's Disease Nervous System Diseases ; Mental Disorders ; 0.45 0.862
Malignant neoplasm of breast Neoplasms ; Skin and Connective Tissue Diseases ; 0.45 0.862
Burkitt Lymphoma Virus Diseases ; Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ; 0.45 0.862
Malignant tumor of colon Neoplasms ; Digestive System Diseases ; 0.45 0.862
Colonic Neoplasms Neoplasms ; Digestive System Diseases ; 0.45 0.862
Presenile dementia Nervous System Diseases ; Mental Disorders ; 0.45 0.862
Diabetes Mellitus, Experimental Nutritional and Metabolic Diseases ; Endocrine System Diseases ; 0.45 0.862
Esophageal Neoplasms Neoplasms ; Digestive System Diseases ; 0.45 0.862
Hepatitis, Toxic Digestive System Diseases ; Chemically-Induced Disorders ; 0.45 0.862
HIV Infections Virus Diseases ; Immune System Diseases ; 0.45 0.862
Male infertility Male Urogenital Diseases ; 0.45 0.862
Intestinal Neoplasms Neoplasms ; Digestive System Diseases ; 0.45 0.862
Ischemia Pathological Conditions, Signs and Symptoms ; 0.45 0.862
Kidney Failure, Acute Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.45 0.862
Myocardial Infarction Cardiovascular Diseases ; 0.45 0.862
Myocardial Reperfusion Injury Cardiovascular Diseases ; Pathological Conditions, Signs and Symptoms ; 0.45 0.862
Nerve Degeneration Pathological Conditions, Signs and Symptoms ; 0.45 0.862
Polycystic Ovary Syndrome Neoplasms ; Female Urogenital Diseases and Pregnancy Complications ; Endocrine System Diseases ; 0.45 0.862
Prostatic Neoplasms Neoplasms ; Male Urogenital Diseases ; 0.45 0.862
Streptozotocin Diabetes Nutritional and Metabolic Diseases ; Endocrine System Diseases ; 0.45 0.862
Lymphoma, T-Cell, Cutaneous Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ; 0.45 0.862
Familial Alzheimer Disease (FAD) Nervous System Diseases ; Mental Disorders ; 0.45 0.862
Intestinal Cancer Neoplasms ; Digestive System Diseases ; 0.45 0.862
Malignant neoplasm of prostate Neoplasms ; Male Urogenital Diseases ; 0.45 0.862
Granulomatous Slack Skin Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ; 0.45 0.862
Alzheimer Disease, Late Onset Nervous System Diseases ; Mental Disorders ; 0.45 0.862
Acute Confusional Senile Dementia Nervous System Diseases ; Mental Disorders ; 0.45 0.862
Malignant neoplasm of esophagus Neoplasms ; Digestive System Diseases ; 0.45 0.862
Breast Carcinoma Neoplasms ; Skin and Connective Tissue Diseases ; 0.45 0.862
Alzheimer's Disease, Focal Onset Nervous System Diseases ; Mental Disorders ; 0.45 0.862
Alzheimer Disease, Early Onset Nervous System Diseases ; Mental Disorders ; 0.45 0.862
Subfertility, Male Male Urogenital Diseases ; 0.45 0.862
Drug-Induced Liver Disease Digestive System Diseases ; Chemically-Induced Disorders ; 0.45 0.862
Male sterility Male Urogenital Diseases ; 0.45 0.862
Microsatellite Instability Pathological Conditions, Signs and Symptoms ; 0.45 0.862
Sclerocystic Ovaries Neoplasms ; Female Urogenital Diseases and Pregnancy Complications ; Endocrine System Diseases ; 0.45 0.862
Mammary Neoplasms, Human Neoplasms ; Skin and Connective Tissue Diseases ; 0.45 0.862
Hepatitis, Drug-Induced Digestive System Diseases ; Chemically-Induced Disorders ; 0.45 0.862
Adenocarcinoma of large intestine N/A 0.45 0.862
Mammary Neoplasms Neoplasms ; Skin and Connective Tissue Diseases ; 0.45 0.862
Acute Kidney Insufficiency Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.45 0.862
Replication Error Phenotype Pathological Conditions, Signs and Symptoms ; 0.45 0.862
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ; 0.45 0.862
Acute kidney injury Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.45 0.862
Cerebral Hemorrhage Nervous System Diseases ; Cardiovascular Diseases ; Pathological Conditions, Signs and Symptoms ; 0.45 0.862
Drug-Induced Acute Liver Injury Digestive System Diseases ; Chemically-Induced Disorders ; 0.45 0.862
Chemical and Drug Induced Liver Injury Digestive System Diseases ; Chemically-Induced Disorders ; 0.45 0.862
Chemically-Induced Liver Toxicity Digestive System Diseases ; Chemically-Induced Disorders ; 0.45 0.862
HIV Coinfection Virus Diseases ; Immune System Diseases ; 0.45 0.862
NO RESULT FOUND
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