Description

isocitrate dehydrogenase 2 (NADP+), mitochondrial [Source:HGNC Symbol;Acc:HGNC:5383]

Location
INSDC coordinates

chromosome:GRCh38:CM000677.2:90083045:90102504:1

About this gene

This gene has 4 transcripts (splice variants), 71 orthologues, 1 paralogue, is a member of 2 Ensembl protein families and is associated with 4 phenotypes.

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
IDH2-001ENST000003300622694452aaENSP00000331897
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS10359P48735 NM_002168
NP_002159
TSL:1

TSL1: All splice junctions of the transcript are supported by at least one non-suspect mRNA.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).APPRIS PI1APPRIS principal isoform
Glossary entry for APPRIS
APPRIS website
IDH2-004ENST000005404991453400aaENSP00000446147
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-P48735 NP_001276839
TSL:2

TSL2: The best supporting mRNA is flagged as suspect or the support is from multiple ESTs.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).
IDH2-002ENST000005594821278312aaENSP00000453016
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-H0YL11 -TSL:5

TSL5: No single transcript (mRNA or EST) supports this transcript model's structure.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).
IDH2-003ENST00000560061144938aaENSP00000453254
 
Nonsense mediated decayTranscript is thought to undergo nonsense mediated decay, a process which detects nonsense mutations and prevents the expression of truncated or erroneous proteins.
-H0YLL5 NM_001290114
NP_001277043
TSL:2

TSL2: The best supporting mRNA is flagged as suspect or the support is from multiple ESTs.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

Gene-based displays