CASP3 (GeneID: 836) | Homo sapiens
Description: caspase 3 [Source:HGNC Symbol;Acc:HGNC:1504]
Synonyms: CPP32, SCA-1, CPP32B
Other ID(s): ENSG00000164305, HGNC:1504
Protein Accession Numbers: ENST00000393585, NP_001341710, NP_001341706, NP_116786, ENST00000447121, NP_001341712, ENST00000308394, NP_001341709, ENST00000523916, NP_004337, ENST00000393588, NP_001341711, NP_001341708, ENST00000517513, NP_001341713
Statistics: ClinVar(2) gnomAD(309) COSMIC(288)
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.
ENST00000308394 ENST00000393585 ENST00000393588 ENST00000447121 ENST00000517513 ENST00000523916 NP_001341706 NP_001341708 NP_001341709 NP_001341710 NP_001341711 NP_001341712 NP_001341713 NP_004337 NP_116786


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
PF00619 CARD Caspase recruitment domain 7-91 CL0041 Death Caenorhabditis elegans
PF00656 Peptidase_C14 Caspase domain 242-493 CL0093 Peptidase_CD Caenorhabditis elegans

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 ; 0.391 0.862
Alzheimer's Disease Nervous System Diseases ; Mental Disorders ; 0.391 0.862
Calcinosis Nutritional and Metabolic Diseases ; 0.391 0.862
Brain Ischemia Nervous System Diseases ; Cardiovascular Diseases ; 0.391 0.862
Ulcerative Colitis Digestive System Diseases ; 0.391 0.862
Cryptorchidism Male Urogenital Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Endocrine System Diseases ; 0.391 0.862
Presenile dementia Nervous System Diseases ; Mental Disorders ; 0.391 0.862
Diabetes Mellitus, Experimental Nutritional and Metabolic Diseases ; Endocrine System Diseases ; 0.391 0.862
Diabetes Mellitus, Non-Insulin-Dependent Nutritional and Metabolic Diseases ; Endocrine System Diseases ; 0.391 0.862
Diabetic Angiopathies Cardiovascular Diseases ; Endocrine System Diseases ; 0.391 0.862
Diabetic Neuropathies Nervous System Diseases ; Endocrine System Diseases ; 0.391 0.862
Diabetic Retinopathy Eye Diseases ; Cardiovascular Diseases ; Endocrine System Diseases ; 0.391 0.862
Edema Pathological Conditions, Signs and Symptoms ; 0.391 0.862
Eperythrozoonosis Bacterial Infections and Mycoses ; 0.391 0.862
Heart valve disease Cardiovascular Diseases ; 0.391 0.862
Hepatitis, Chronic Digestive System Diseases ; 0.391 0.862
Microangiopathy, Diabetic Cardiovascular Diseases ; Endocrine System Diseases ; 0.391 0.862
Mycoplasma Infections Bacterial Infections and Mycoses ; 0.391 0.862
Myocardial Infarction Cardiovascular Diseases ; 0.391 0.862
Myocardial Reperfusion Injury Cardiovascular Diseases ; Pathological Conditions, Signs and Symptoms ; 0.391 0.862
Nerve Degeneration Pathological Conditions, Signs and Symptoms ; 0.391 0.862
nervous system disorder Nervous System Diseases ; 0.391 0.862
Pyemia Bacterial Infections and Mycoses ; Pathological Conditions, Signs and Symptoms ; 0.391 0.862
Reperfusion Injury Cardiovascular Diseases ; Pathological Conditions, Signs and Symptoms ; 0.391 0.862
Retinal Detachment Eye Diseases ; 0.391 0.862
Schizophrenia Mental Disorders ; 0.391 0.862
Septicemia Bacterial Infections and Mycoses ; Pathological Conditions, Signs and Symptoms ; 0.391 0.862
Spinal Cord Injuries Nervous System Diseases ; Wounds and Injuries ; 0.391 0.862
Status Epilepticus Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.391 0.862
Streptozotocin Diabetes Nutritional and Metabolic Diseases ; Endocrine System Diseases ; 0.391 0.862
Subarachnoid Hemorrhage Nervous System Diseases ; Cardiovascular Diseases ; Pathological Conditions, Signs and Symptoms ; 0.391 0.862
Encephalopathy, Toxic Nervous System Diseases ; Chemically-Induced Disorders ; 0.391 0.862
Chronic Persistent Hepatitis Digestive System Diseases ; 0.391 0.862
Anasarca Pathological Conditions, Signs and Symptoms ; 0.391 0.862
Toxic Encephalitis Nervous System Diseases ; Chemically-Induced Disorders ; 0.391 0.862
Neurotoxicity Syndromes Nervous System Diseases ; Chemically-Induced Disorders ; 0.391 0.862
Sepsis Bacterial Infections and Mycoses ; Pathological Conditions, Signs and Symptoms ; 0.391 0.862
Tumoral calcinosis Nutritional and Metabolic Diseases ; 0.391 0.862
Perinatal Subarachnoid Hemorrhage Nervous System Diseases ; Cardiovascular Diseases ; Pathological Conditions, Signs and Symptoms ; 0.391 0.862
Petit mal status Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.391 0.862
Symmetric Diabetic Proximal Motor Neuropathy Nervous System Diseases ; Endocrine System Diseases ; 0.391 0.862
Asymmetric Diabetic Proximal Motor Neuropathy Nervous System Diseases ; Endocrine System Diseases ; 0.391 0.862
Diabetic Mononeuropathy Nervous System Diseases ; Endocrine System Diseases ; 0.391 0.862
Diabetic Polyneuropathies Nervous System Diseases ; Endocrine System Diseases ; 0.391 0.862
Diabetic Amyotrophy Nervous System Diseases ; Endocrine System Diseases ; 0.391 0.862
Diabetic Autonomic Neuropathy Nervous System Diseases ; Endocrine System Diseases ; 0.391 0.862
Familial Alzheimer Disease (FAD) Nervous System Diseases ; Mental Disorders ; 0.391 0.862
Grand Mal Status Epilepticus Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.391 0.862
Retinal Pigment Epithelial Detachment Eye Diseases ; 0.391 0.862
Complex Partial Status Epilepticus Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.391 0.862
Diabetic Asymmetric Polyneuropathy Nervous System Diseases ; Endocrine System Diseases ; 0.391 0.862
Bilateral Cryptorchidism Male Urogenital Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Endocrine System Diseases ; 0.391 0.862
Unilateral Cryptorchidism Male Urogenital Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Endocrine System Diseases ; 0.391 0.862
Spinal Cord Contusion Nervous System Diseases ; Wounds and Injuries ; 0.391 0.862
Spinal Cord Laceration Nervous System Diseases ; Wounds and Injuries ; 0.391 0.862
Spinal Cord transection injury Nervous System Diseases ; Wounds and Injuries ; 0.391 0.862
Subarachnoid Hemorrhage, Spontaneous Nervous System Diseases ; Cardiovascular Diseases ; Pathological Conditions, Signs and Symptoms ; 0.391 0.862
Alzheimer Disease, Late Onset Nervous System Diseases ; Mental Disorders ; 0.391 0.862
Chronic active hepatitis Digestive System Diseases ; 0.391 0.862
Microcalcification Nutritional and Metabolic Diseases ; 0.391 0.862
Cryptogenic Chronic Hepatitis Digestive System Diseases ; 0.391 0.862
Acute Confusional Senile Dementia Nervous System Diseases ; Mental Disorders ; 0.391 0.862
Alzheimer's Disease, Focal Onset Nervous System Diseases ; Mental Disorders ; 0.391 0.862
Alzheimer Disease, Early Onset Nervous System Diseases ; Mental Disorders ; 0.391 0.862
Diabetic Neuralgia Nervous System Diseases ; Endocrine System Diseases ; 0.391 0.862
Post-Traumatic Myelopathy Nervous System Diseases ; Wounds and Injuries ; 0.391 0.862
Status Epilepticus, Subclinical Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.391 0.862
Non-Convulsive Status Epilepticus Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.391 0.862
Simple Partial Status Epilepticus Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.391 0.862
Subarachnoid Hemorrhage, Aneurysmal Nervous System Diseases ; Cardiovascular Diseases ; Pathological Conditions, Signs and Symptoms ; 0.391 0.862
Subarachnoid Hemorrhage, Intracranial Nervous System Diseases ; Cardiovascular Diseases ; Pathological Conditions, Signs and Symptoms ; 0.391 0.862
Cerebral Ischemia Nervous System Diseases ; Cardiovascular Diseases ; 0.391 0.862
Abdominal Cryptorchidism Male Urogenital Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Endocrine System Diseases ; 0.391 0.862
Inguinal Cryptorchidism Male Urogenital Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Endocrine System Diseases ; 0.391 0.862
Severe Sepsis Bacterial Infections and Mycoses ; Pathological Conditions, Signs and Symptoms ; 0.391 0.862
Copper-Overload Cirrhosis Digestive System Diseases ; Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ; 0.391 0.862
Cerebral Hemorrhage Nervous System Diseases ; Cardiovascular Diseases ; Pathological Conditions, Signs and Symptoms ; 0.391 0.862
Familial Ménière disease N/A 0.391 0.862
NO RESULT FOUND
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