IDH2 (GeneID: 3418) | Homo sapiens
Description: isocitrate dehydrogenase (NADP(+)) 2, mitochondrial [Source:HGNC Symbol;Acc:HGNC:5383]
Synonyms: NADP-IDH, IDHM, D2HGA2, IDPM, IDH, IDP, ICD-M
Other ID(s): HGNC:5383, ENSG00000182054
Protein Accession Numbers: ENST00000560061, ENST00000539790, NP_001277043, ENST00000559482, ENST00000330062.3, NP_001276839, ENST00000540499, ENST00000330062, NP_002159
Statistics: gnomAD(285) COSMIC(847)
gnomAD Variants By Annotation

∙ 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 ENST00000539790 ENST00000540499 ENST00000559482 ENST00000560061 NP_001276839 NP_001277043 NP_002159


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 Mus musculus

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
feedback