isocitrate dehydrogenase (NADP(+)) 2

Summary
Gene Symbol
  • IDH2
Aliases
  • IDH-2
Organism
Homo sapiens (human)
External Links
NCBI Gene
3418
HGNC
5383
KEGG Gene ID
hsa:3418
PubChem
3418
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Acetylation
  • Alternative splicing
  • Disease variant
  • Glyoxylate bypass
  • Magnesium
  • Manganese
  • Metal-binding
  • Mitochondrion
  • NADP
  • Oxidoreductase
  • Reference proteome
  • Transit peptide
  • Tricarboxylic acid cycle
Proteins
Displaying all 2 entries
UniProt Protein Name
B4DSZ6
  • NADP(+)-specific ICDH
  • Oxalosuccinate decarboxylase
P48735
  • ICD-M
  • IDP
  • NADP(+)-specific ICDH
  • Oxalosuccinate decarboxylase
Gene Ontology (GO)
GO Hierarchy
Human Protein Atlas
ENSG00000182054

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

KEGG BRITE Database
Orthology
K00031
Name
isocitrate dehydrogenase [EC:1.1.1.42]
References
Disease
Disease Ontology
Displaying entries 31 - 40 of 347 in total
DO ID Disease Name Source
DOID:0080005 bone remodeling disease
DOID:0080092 myofibrillar myopathy 1
DOID:0080094 myofibrillar myopathy 3
DOID:0080144 childhood acute lymphocytic leukemia
DOID:0080147 lymphoblastic lymphoma
DOID:0080195 Marinesco-Sjogren syndrome
DOID:0080199 colorectal carcinoma
DOID:0080326 familial hypertrophic cardiomyopathy
DOID:0080348 Alzheimer's disease 1
DOID:0080522 thyroid gland anaplastic carcinoma
The Human Phenotype Ontology
Displaying entries 1 - 10 of 43 in total
HPO ID HPO Term
HP:0000006 Autosomal dominant inheritance
HP:0000826 Precocious puberty
HP:0000853 Goiter
HP:0000926 Platyspondyly
HP:0000944 Abnormal metaphysis morphology
HP:0001028 Hemangioma
HP:0001250 Seizure
HP:0001252 Hypotonia
HP:0001263 Global developmental delay
HP:0001387 Joint stiffness
Displaying all 3 entries
Disease ID Disease Name
OMIM:613657
  • d-2-hydroxyglutaric aciduria 2
ORPHA:163634
  • Maffucci syndrome
ORPHA:296
  • Ollier disease

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024