IDH2 isocitrate dehydrogenase (NADP(+)) 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: IDH2provided by HGNC
Official Full Name: isocitrate dehydrogenase (NADP(+)) 2provided by HGNC
Primary source: HGNC:HGNC:5383
See related: Ensembl:ENSG00000182054 MIM:147650; AllianceGenome:HGNC:5383
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: IDH; IDP; IDHM; IDPM; ICD-M; IDH-2; D2HGA2; mNADP-IDH
Summary: Isocitrate dehydrogenases catalyze the oxidative decarboxylation of isocitrate to 2-oxoglutarate. These enzymes belong to two distinct subclasses, one of which utilizes NAD(+) as the electron acceptor and the other NADP(+). Five isocitrate dehydrogenases have been reported: three NAD(+)-dependent isocitrate dehydrogenases, which localize to the mitochondrial matrix, and two NADP(+)-dependent isocitrate dehydrogenases, one of which is mitochondrial and the other predominantly cytosolic. Each NADP(+)-dependent isozyme is a homodimer. The protein encoded by this gene is the NADP(+)-dependent isocitrate dehydrogenase found in the mitochondria. It plays a role in intermediary metabolism and energy production. This protein may tightly associate or interact with the pyruvate dehydrogenase complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]
Expression: Ubiquitous expression in heart (RPKM 100.1), kidney (RPKM 92.8) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 15q26.1

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (90083045..90102468, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (87839072..87858500, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (90626277..90645700, complement)

Chromosome 15 - NC_000015.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Genetic Polymorphism Study of IDH 1/2 and TET2 Genes in Acute Myeloid leukemia Patients.
Title: Genetic Polymorphism Study of IDH 1/2 and TET2 Genes in Acute Myeloid leukemia Patients.
IDH2 mutations in acute myeloid leukemia.
Title: IDH2 mutations in acute myeloid leukemia.
The impact of IDH and NAT2 gene polymorphisms in acute myeloid leukemia risk and overall survival in an Arab population: A case-control study.
Title: The impact of IDH and NAT2 gene polymorphisms in acute myeloid leukemia risk and overall survival in an Arab population: A case-control study.
Recurrent IDH2 Mutations in Salivary Gland Striated Duct Adenoma Define an Expanded Histologic Spectrum Distinct From Canalicular Adenoma.
Title: Recurrent IDH2 Mutations in Salivary Gland Striated Duct Adenoma Define an Expanded Histologic Spectrum Distinct From Canalicular Adenoma.
IDH2, a novel target of OGT, facilitates glucose uptake and cellular bioenergy production via NF-kappaB signaling to promote colorectal cancer progression.
Title: IDH2, a novel target of OGT, facilitates glucose uptake and cellular bioenergy production via NF-κB signaling to promote colorectal cancer progression.
IDH2 stabilizes HIF-1alpha-induced metabolic reprogramming and promotes chemoresistance in urothelial cancer.
Title: IDH2 stabilizes HIF-1α-induced metabolic reprogramming and promotes chemoresistance in urothelial cancer.
Impact of IDH1 and IDH2 mutation detection at diagnosis and in remission in patients with AML receiving allogeneic transplantation.
Title: Impact of IDH1 and IDH2 mutation detection at diagnosis and in remission in patients with AML receiving allogeneic transplantation.
IDH2[R172] mutation in angioimmunoblastic T-cell lymphoma: A retrospective multicenter case series.
Title: IDH2(R172) mutation in angioimmunoblastic T-cell lymphoma: A retrospective multicenter case series.
Effects of cancer-associated point mutations on the structure, function, and stability of isocitrate dehydrogenase 2.
Title: Effects of cancer-associated point mutations on the structure, function, and stability of isocitrate dehydrogenase 2.
Nrf2 transcriptional upregulation of IDH2 to tune mitochondrial dynamics and rescue angiogenic function of diabetic EPCs.
Title: Nrf2 transcriptional upregulation of IDH2 to tune mitochondrial dynamics and rescue angiogenic function of diabetic EPCs.

Submit: New GeneRIF Correction See all GeneRIFs (399)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
D-2-hydroxyglutaric aciduria 2 MedGen: C3150909 OMIM: 613657 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Vpr	vpr	A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies downregulation of isocitrate dehydrogenase 2 (IDH2) expression by HIV-1 Vpr in Vpr transduced macrophages	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

A009O05 (e-PCR)
- UniSTS:20506

G32697 (e-PCR)
- UniSTS:117279

STS-X69433 (e-PCR)
- UniSTS:44446

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables NAD binding	IEA Inferred from Electronic Annotation more info
enables isocitrate dehydrogenase (NADP+) activity	IBA Inferred from Biological aspect of Ancestor more info
enables isocitrate dehydrogenase (NADP+) activity	IDA Inferred from Direct Assay more info	PubMed
enables isocitrate dehydrogenase (NADP+) activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables isocitrate dehydrogenase (NADP+) activity	ISS Inferred from Sequence or Structural Similarity more info
enables magnesium ion binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in 2-oxoglutarate metabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in NADP metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in carbohydrate metabolic process	NAS Non-traceable Author Statement more info	PubMed
involved_in glyoxylate cycle	IEA Inferred from Electronic Annotation more info
involved_in isocitrate metabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in tricarboxylic acid cycle	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in extracellular exosome	HDA more info	PubMed
located_in mitochondrial matrix	TAS Traceable Author Statement more info
located_in mitochondrion	HDA more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IDA Inferred from Direct Assay more info
located_in peroxisome	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: isocitrate dehydrogenase [NADP], mitochondrial

Names: NADP(+)-specific ICDH; isocitrate dehydrogenase (NADP(+)) 2, mitochondrial; isocitrate dehydrogenase 2 (NADP+), mitochondrial; oxalosuccinate decarboxylase

NP_001276839.1

EC 1.1.1.42

NP_001277043.1

EC 1.1.1.42

NP_002159.2

EC 1.1.1.42

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_023302.1 RefSeqGene

Range

4923..23499

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_611

mRNA and Protein(s)

NM_001289910.1 → NP_001276839.1 isocitrate dehydrogenase [NADP], mitochondrial isoform 2

See identical proteins and their annotated locations for NP_001276839.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and coding region and initiates translation at a downstream start codon compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.

Source sequence(s)

AK294148, BC009244

Consensus CDS

CCDS76792.1

UniProtKB/TrEMBL

Q53GL5

Related

ENSP00000446147.2, ENST00000540499.2

Conserved Domains (1) summary

PTZ00435
Location:1 → 399

PTZ00435; isocitrate dehydrogenase; Provisional
NM_001290114.2 → NP_001277043.1 isocitrate dehydrogenase [NADP], mitochondrial isoform 3

See identical proteins and their annotated locations for NP_001277043.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks two alternate exons and initiates translation at a downstream start codon compared to variant 1. The resulting isoform (3) is shorter at the N-terminus compared to isoform 1.

Source sequence(s)

AC087284, AK299987, X69433

UniProtKB/TrEMBL

B4DSZ6

Conserved Domains (1) summary

cl00445
Location:1 → 321

Iso_dh; Isocitrate/isopropylmalate dehydrogenase
NM_002168.4 → NP_002159.2 isocitrate dehydrogenase [NADP], mitochondrial isoform 1 precursor

See identical proteins and their annotated locations for NP_002159.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AC087284, AK312627, X69433

Consensus CDS

CCDS10359.1

UniProtKB/Swiss-Prot

B2R6L6, B4DFL2, P48735, Q96GT3

UniProtKB/TrEMBL

Q53GL5

Related

ENSP00000331897.4, ENST00000330062.8

Conserved Domains (1) summary

PTZ00435
Location:39 → 451

PTZ00435; isocitrate dehydrogenase; Provisional