IDH2
entrez
3418
canonical
uniprot
P48735
canonical
ensembl
ENSG00000182054
resolver
ensp
ENSP00000331897
resolver
ensp
ENSP00000446147
resolver
genesymbol
IDH2
resolver
hgnc
HGNC:5383
resolver
uniprot
B2R6L6
resolver
uniprot
B4DFL2
resolver
uniprot
B4DSZ6
resolver
uniprot
Q96GT3
resolver
uniprot_entry
B4DSZ6_HUMAN
resolver
uniprot_entry
IDHP_HUMAN
resolver
uniprot_sec
B2R6L6
resolver
uniprot_sec
B4DFL2
resolver
uniprot_sec
Q96GT3
resolver
amino_acid_sequence
MAGYLRVVRSLCRASGSRPAWAPAALTAPTSQEQPRRHYADKRIKVAKPVVEMDGDEMTRIIWQFIKEKLILPHVDIQLKYFDLGLPNRDQTDDQVTIDSALATQKYSVAVKCATITPDEARVEEFKLKKMWKSPNGTIRNILGGTVFREPIICKNIPRLVPGWTKPITIGRHAHGDQYKATDFVADRAGTFKMVFTPKDGSGVKEWEVYNFPAGGVGMGMYNTDESISGFAHSCFQYAIQKKWPLYMSTKNTILKAYDGRFKDIFQEIFDKHYKTDFDKNKIWYEHRLIDDMVAQVLKSSGGFVWACKNYDGDVQSDILAQGFGSLGLMTSVLVCPDGKTIEAEAAHGTVTRHYREHQKGRPTSTNPIASIFAWTRGLEHRGKLDGNQDLIRFAQMLEKVCVETVESGAMTKDLAGCIHGLSNVKLNEHFLNTTDFLDTIKSNLDRALGRQ
uniprot
proteins
disease_involvement
DISEASE: D-2-hydroxyglutaric aciduria 2 (D2HGA2) [MIM:613657]: A neurometabolic disorder causing developmental delay, epilepsy, hypotonia, and dysmorphic features. Both a mild and a severe phenotype exist. The severe phenotype is homogeneous and is characterized by early infantile-onset epileptic encephalopathy and cardiomyopathy. The mild phenotype has a more variable clinical presentation. Diagnosis is based on the presence of an excess of D-2-hydroxyglutaric acid in the urine. {ECO:0000269|PubMed:20847235}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Glioma (GLM) [MIM:137800]: Gliomas are benign or malignant central nervous system neoplasms derived from glial cells. They comprise astrocytomas and glioblastoma multiforme that are derived from astrocytes, oligodendrogliomas derived from oligodendrocytes and ependymomas derived from ependymocytes. {ECO:0000269|PubMed:19228619, ECO:0000269|PubMed:25495392}. Note=The gene represented in this entry is involved in disease pathogenesis.; DISEASE: Note=enetic variations are associated with cartilaginous tumors such as enchondroma or chondrosarcoma. {ECO:0000269|PubMed:26161668}.
uniprot
proteins
ec_number
1.1.1.42
uniprot
proteins
function
FUNCTION: Plays a role in intermediary metabolism and energy production (PubMed:19228619, PubMed:22416140). It may tightly associate or interact with the pyruvate dehydrogenase complex (PubMed:19228619, PubMed:22416140). {ECO:0000269|PubMed:19228619, ECO:0000269|PubMed:22416140}.
uniprot
proteins
mass_dalton
50909
uniprot
proteins
mutagenesis
MUTAGEN 413; /note="K->A: 44-fold loss in activity."; /evidence="ECO:0000269|PubMed:22416140"; MUTAGEN 413; /note="K->Q: 20-fold decrease in Vmax."; /evidence="ECO:0000269|PubMed:22416140"; MUTAGEN 413; /note="K->R: No appreciable difference in Km for isocitrate and NADP."; /evidence="ECO:0000269|PubMed:22416140
uniprot
proteins
post_translational_modification
PTM: Acetylation at Lys-413 dramatically reduces catalytic activity. Deacetylated by SIRT3. {ECO:0000269|PubMed:22416140}.
uniprot
proteins
protein_family
Isocitrate and isopropylmalate dehydrogenases family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16572171
uniprot
proteins
pubmed
19228619
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
20847235
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22416140
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25495392
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
26161668
uniprot
proteins
sequence_length
452
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000250|UniProtKB:P33198}.
uniprot
proteins