| Nomenclature | Genomic Location |
| Symbol | Idh2 | Chromosome | 1 |
| Name | Isocitrate dehydrogenase [NADP],
mitochondrial | Linkage map | unknown |
| Species | Dracomimus familiaris | Genome Coordinates | 1: 7 Mbp |
| Molecular Function |
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Plays a role in intermediary metabolism and energy production. It may tightly associate or interact with the pyruvate dehydrogenase complex.
Isocitrate + NADP+ = 2-oxoglutarate + CO2 + NADPH.
Molecular Function Terms:
binding
cofactor binding
coenzyme binding
NAD binding
ion binding
cation binding
metal ion binding
nucleotide binding
NAD binding
catalytic activity
oxidoreductase activity
oxidoreductase activity, acting on CH-OH group of donors
oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor
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| Human Disease Association |
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Defects in IDH2 are the cause of D-2-hydroxyglutaric aciduria type 2 (D2HGA2) [MIM:613657].
D2HGA2 is 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.
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1 ATGGCCCTCCGCTTCCTCCGGGCTTCCTCCTCCGCTTCCTGGGCTTCCCTCAGCCGCTGC
61 CCGCCCGCCTTCCTCCCGGCCTCGTCTTCTGCTCCGCGGAGACACTATGCCGACCGGAGA
121 ATCAAGGTGGCCAACCCGGTGGTGGAGATGGACGGGGACGAGATGACCCGCATCATCTGG
181 GCCTTCATCAAGGAGAAGCTTATCCTGCCCAATGTTGACGTCCAGCTGAAGTATTTTGAC
241 CTGGGGCTGCCCCACCGCGACCAGACGGACGACCAGGTCACCATCGACTCGGCCCTGGCC
301 ACCCAGAAGTACAGCGTGGCCGTCAAGTGTGCCACCATCACCCCGGACGAGGCCAGGGTC
361 GAAGAATTCAAGCTGAAGAAGATGTGGAAGAGCCCCAACGGCACCATCAGGAACATCCTG
421 GGCGGGACGGTCTTCCGAGAGCCCATCATCTGCAAGAACATCCCTCGCCTGGTCCCCGGG
481 TGGACAAAGCCCATCACCATCGGCAGGCACGCCCACGGCGACCAGTACAAAGCCACCGAC
541 TTCGTGGTGGACAAGTCCGGGACCTTCAAGATGGTCTTCACCCCGAAGGACGGCAGCGGC
601 GCCAAGGAGTGGGAGGTCTACAACTTCCCCGGTGGAGGAGTCGGCATGGGCATGTACAAC
661 ACGGACGAGTCCATCTCGGGCTTTGCCCACAGCTGCTTCCAGTACGCCATCCAGAAGAAG
721 TGGCCTCTCTACTTGAGCACCAAGAACACCATCCTCAAGGCCTACGACGGGCGCTTCAAG
781 GACGTCTTCCAGGAGATCTTTGAGAAGCATTACAAGACCAATTTTGACAAGCTCAAGATC
841 TGGTACGAGCACCGCCTCATCGACGACATGGTGGCCCAGGTGTTGAAGTCCACGGGGGGC
901 TTCGTGTGGGCCTGCAAGAACTACGACGGGGACGTCCAGTCCGACATCCTGGCCCAAGGG
961 TTTGGCTCGCTCGGCCTCATGACCTCCGTCCTCGTCTGCCCGGACGGCAAGACCATTGAA
1021 GCTGAGGCTGCGCACGGCACCGTCACCCGCCACTACCGGGAGCACCAGAAGGGCAATCCA
1081 ACCAGCACCAACCCCATCGCCAGCATCTTTGCCTGGACGCGAGGGCTGGAGCACCGAGGC
1141 AAGCTGGACAGCAACCCAGACCTCATCAAGTTTGCTCAGACTCTGGAGAAGGTCTGCGTT
1201 GAGACGGTGGAGAGCGGTGCAATGACAAAGGACCTGGCCGGCTGCATCCACGGACTCAGC
1261 AATGTGAAACTGAACGAGCACTTTGTGAACACGACCGACTTCCTGGACGCCATCAAGAAC
1321 AACCTGGACAAAGCCCTGGGCAAGCAGTAA
| Predicted Protein Product |
MALRFLRASSSASWASLSRCPPAFLPASSSAPRRHYADRRIKVANPVVEMDGDEMTRIIW
AFIKEKLILPNVDVQLKYFDLGLPHRDQTDDQVTIDSALATQKYSVAVKCATITPDEARV
EEFKLKKMWKSPNGTIRNILGGTVFREPIICKNIPRLVPGWTKPITIGRHAHGDQYKATD
FVVDKSGTFKMVFTPKDGSGAKEWEVYNFPGGGVGMGMYNTDESISGFAHSCFQYAIQKK
WPLYLSTKNTILKAYDGRFKDVFQEIFEKHYKTNFDKLKIWYEHRLIDDMVAQVLKSTGG
FVWACKNYDGDVQSDILAQGFGSLGLMTSVLVCPDGKTIEAEAAHGTVTRHYREHQKGNP
TSTNPIASIFAWTRGLEHRGKLDSNPDLIKFAQTLEKVCVETVESGAMTKDLAGCIHGLS
NVKLNEHFVNTTDFLDAIKNNLDKALGKQ
| Protein Alignment to Mouse |
sp|P54071|IDHP_MOUSE Isocitrate dehydrogenase [NADP], mitochondrial OS=Mus
musculus GN=Idh2 PE=1 SV=3
MGI:96414 Idh2 isocitrate dehydrogenase 2 (NADP+), mitochondrial (Chr 7)
Length = 452
Score = 2106 (746.4 bits), Expect = 1.0e-218, P = 1.0e-218
Identities = 389/417 (93%), Positives = 407/417 (97%)
Query: 33 RRHYADRRIKVANPVVEMDGDEMTRIIWAFIKEKLILPNVDVQLKYFDLGLPHRDQTDDQ 92
RRHYA++RIKV PVVEMDGDEMTRIIW FIKEKLILP+VDVQLKYFDLGLP+RDQT+DQ
Sbjct: 36 RRHYAEKRIKVEKPVVEMDGDEMTRIIWQFIKEKLILPHVDVQLKYFDLGLPNRDQTNDQ 95
Query: 93 VTIDSALATQKYSVAVKCATITPDEARVEEFKLKKMWKSPNGTIRNILGGTVFREPIICK 152
VTIDSALATQKYSVAVKCATITPDEARVEEFKLKKMWKSPNGTIRNILGGTVFREPIICK
Sbjct: 96 VTIDSALATQKYSVAVKCATITPDEARVEEFKLKKMWKSPNGTIRNILGGTVFREPIICK 155
Query: 153 NIPRLVPGWTKPITIGRHAHGDQYKATDFVVDKSGTFKMVFTPKDGSGAKEWEVYNFPGG 212
NIPRLVPGWTKPITIGRHAHGDQYKATDFVVD++GTFK+VFTPKDGS AKEWEVYNFP G
Sbjct: 156 NIPRLVPGWTKPITIGRHAHGDQYKATDFVVDRAGTFKLVFTPKDGSSAKEWEVYNFPAG 215
Query: 213 GVGMGMYNTDESISGFAHSCFQYAIQKKWPLYLSTKNTILKAYDGRFKDVFQEIFEKHYK 272
GVGMGMYNTDESISGFAHSCFQY+IQKKWPLYLSTKNTILKAYDGRFKD+FQEIF+KHYK
Sbjct: 216 GVGMGMYNTDESISGFAHSCFQYSIQKKWPLYLSTKNTILKAYDGRFKDIFQEIFDKHYK 275
Query: 273 TNFDKLKIWYEHRLIDDMVAQVLKSTGGFVWACKNYDGDVQSDILAQGFGSLGLMTSVLV 332
T+FDK KIWYEHRLIDDMVAQVLKS+GGFVWACKNYDGDVQSDILAQGFGSLGLMTSVLV
Sbjct: 276 TDFDKNKIWYEHRLIDDMVAQVLKSSGGFVWACKNYDGDVQSDILAQGFGSLGLMTSVLV 335
Query: 333 CPDGKTIEAEAAHGTVTRHYREHQKGNPTSTNPIASIFAWTRGLEHRGKLDSNPDLIKFA 392
CPDGKTIEAEAAHGTVTRHYREHQKG PTSTNPIASIFAWTRGLEHRGKLD N DLI+FA
Sbjct: 336 CPDGKTIEAEAAHGTVTRHYREHQKGRPTSTNPIASIFAWTRGLEHRGKLDGNQDLIRFA 395
Query: 393 QTLEKVCVETVESGAMTKDLAGCIHGLSNVKLNEHFVNTTDFLDAIKNNLDKALGKQ 449
QTLEKVCV+TVESGAMTKDLAGCIHGLSNVKLNEHF+NTTDFLD IK+NLD+ALGKQ
Sbjct: 396 QTLEKVCVQTVESGAMTKDLAGCIHGLSNVKLNEHFLNTTDFLDTIKSNLDRALGKQ 452
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