Idh2 (GeneID: 269951) | Mus musculus
Description: isocitrate dehydrogenase 2 (NADP+), mitochondrial [Source:MGI Symbol;Acc:MGI:96414]
Synonyms: E430004F23, IDPm, Idh-2
Other ID(s): ENSMUSG00000030541, MGI:96414
Protein Accession Numbers: XP_006540974, NP_766599, XP_006540975
Statistics: ClinVar(65) gnomAD(406) COSMIC(1618) PTM(57)
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.
ENST00000330062 You are here now! ENST00000539790 ENST00000540499 ENST00000559482 ENST00000560061 NP_001276839 NP_001277043 NP_002159 You are here now!


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
PF00180 Iso_dh Isocitrate/isopropylmalate dehydrogenase 45-441 CL0270 Iso_DH Homo sapiens

view_listList of the diseases from DisGeNET
Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
Osteoporosis, Age-Related Musculoskeletal Diseases ; Nutritional and Metabolic Diseases ; 0.469 0.655
Astrocytoma Neoplasms ; 0.469 0.655
Biliary Tract Neoplasm Neoplasms ; Digestive System Diseases ; 0.469 0.655
Cardiomyopathy, Dilated Cardiovascular Diseases ; 0.469 0.655
Hypertrophic Cardiomyopathy Cardiovascular Diseases ; 0.469 0.655
CNS disorder Nervous System Diseases ; 0.469 0.655
Cytopenia N/A 0.469 0.655
Dyschondroplasias Musculoskeletal Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.469 0.655
Enchondromatosis Musculoskeletal Diseases ; 0.469 0.655
Ependymoma Neoplasms ; 0.469 0.655
Growth Disorders Pathological Conditions, Signs and Symptoms ; 0.469 0.655
Cardiomegaly Cardiovascular Diseases ; Pathological Conditions, Signs and Symptoms ; 0.469 0.655
Hemangioma Neoplasms ; 0.469 0.655
Hydronephrosis Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.469 0.655
Angioimmunoblastic Lymphadenopathy Hemic and Lymphatic Diseases ; Immune System Diseases ; 0.469 0.655
Jacksonian Seizure Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.469 0.655
Leukemia, Myelocytic, Acute Neoplasms ; 0.469 0.655
Acute Promyelocytic Leukemia Neoplasms ; 0.469 0.655
Maffucci Syndrome Musculoskeletal Diseases ; 0.469 0.655
Acute Myeloid Leukemia, M1 Neoplasms ; 0.469 0.655
Neoplasm Recurrence, Local Neoplasms ; Pathological Conditions, Signs and Symptoms ; 0.469 0.655
oligodendroglioma Neoplasms ; 0.469 0.655
Degenerative polyarthritis Musculoskeletal Diseases ; 0.469 0.655
Osteoporosis Musculoskeletal Diseases ; Nutritional and Metabolic Diseases ; 0.469 0.655
Osteoporosis, Senile Musculoskeletal Diseases ; Nutritional and Metabolic Diseases ; 0.469 0.655
Kidney Failure Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.469 0.655
Seizures Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.469 0.655
Peripheral T-Cell Lymphoma Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ; 0.469 0.655
Osteoarthrosis Deformans Musculoskeletal Diseases ; 0.469 0.655
Complex partial seizures Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.469 0.655
Congenital anemia N/A 0.469 0.655
Histiocytoid hemangioma Neoplasms ; 0.469 0.655
Hemangioma, Intramuscular Neoplasms ; 0.469 0.655
Cholangiocarcinoma Neoplasms ; 0.469 0.655
Subependymal Glioma Neoplasms ; 0.469 0.655
Generalized seizures Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.469 0.655
Seizures, Clonic Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.469 0.655
Ventricular Dysfunction, Left Cardiovascular Diseases ; 0.469 0.655
Conduction disorder of the heart Cardiovascular Diseases ; 0.469 0.655
Visual seizure Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.469 0.655
Tonic Seizures Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.469 0.655
Epileptic drop attack Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.469 0.655
Adult Oligodendroglioma Neoplasms ; 0.469 0.655
Childhood Oligodendroglioma Neoplasms ; 0.469 0.655
Mixed Oligodendroglioma-Astrocytoma Neoplasms ; 0.469 0.655
Anaplastic astrocytoma Neoplasms ; 0.469 0.655
Protoplasmic astrocytoma Neoplasms ; 0.469 0.655
Gemistocytic astrocytoma Neoplasms ; 0.469 0.655
Fibrillary Astrocytoma Neoplasms ; 0.469 0.655
Anaplastic Oligodendroglioma Neoplasms ; 0.469 0.655
Oligodendroblastoma Neoplasms ; 0.469 0.655
Intrahepatic Cholangiocarcinoma Neoplasms ; 0.469 0.655
Hematologic Neoplasms Neoplasms ; Hemic and Lymphatic Diseases ; 0.469 0.655
Craniofacial Abnormalities Musculoskeletal Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.469 0.655
Seizures, Somatosensory Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.469 0.655
Seizures, Auditory Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.469 0.655
Olfactory seizure Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.469 0.655
Gustatory seizure Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.469 0.655
Vertiginous seizure Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.469 0.655
Anaplastic Oligoastrocytoma N/A 0.469 0.655
Tonic - clonic seizures Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.469 0.655
Epileptic encephalopathy N/A 0.469 0.655
Chorioangioma Neoplasms ; 0.469 0.655
Non-epileptic convulsion Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.469 0.655
Single Seizure Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.469 0.655
Atonic Absence Seizures Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.469 0.655
Mixed Oligodendroglioma-Ependymoma Neoplasms ; 0.469 0.655
Well Differentiated Oligodendroglioma Neoplasms ; 0.469 0.655
Post-Traumatic Osteoporosis Musculoskeletal Diseases ; Nutritional and Metabolic Diseases ; 0.469 0.655
Convulsive Seizures Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.469 0.655
Seizures, Focal Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.469 0.655
Seizures, Sensory Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.469 0.655
Chondroma Neoplasms ; 0.469 0.655
Cardiac Hypertrophy Cardiovascular Diseases ; Pathological Conditions, Signs and Symptoms ; 0.469 0.655
Renal Insufficiency Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.469 0.655
Glioblastoma Multiforme Neoplasms ; 0.469 0.655
Enchondroma Neoplasms ; 0.469 0.655
Glioma of Brain, Familial Neoplasms ; Nervous System Diseases ; 0.469 0.655
Acute Myeloid Leukemia (AML-M2) Neoplasms ; 0.469 0.655
Angioma Neoplasms ; 0.469 0.655
Combined D-2- and L-2-hydroxyglutaric aciduria Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ; 0.469 0.655
GLIOMA SUSCEPTIBILITY 1 N/A 0.469 0.655
D-2-HYDROXYGLUTARIC ACIDURIA 2 N/A 0.469 0.655
D-2-HYDROXYGLUTARIC ACIDURIA 1 N/A 0.469 0.655
Nonepileptic Seizures Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.469 0.655
Intellectual Disability Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ; 0.469 0.655
Extrahepatic Cholangiocarcinoma Neoplasms ; 0.469 0.655
Convulsions Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.469 0.655
Absence Seizures Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.469 0.655
Epileptic Seizures Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.469 0.655
Myoclonic Seizures Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.469 0.655
Generalized Absence Seizures Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.469 0.655
NO RESULT FOUND
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