Basic Information

Symbol
NDUFA2
RNA class
mRNA
Alias
NADH:Ubiquinone Oxidoreductase Subunit A2 B8 NADH Dehydrogenase [Ubiquinone] 1 Alpha Subcomplex Subunit 2 NADH Dehydrogenase (Ubiquinone) 1 Alpha Subcomplex, 2, 8kDa Complex I B8 Subunit NADH Dehydrogenase (Ubiquinone) 1 Alpha Subcomplex, 2 (8kD, B8) NADH-Ubiquinone Oxidoreductase Subunit CI-B8 NADH-Ubiquinone Oxidoreductase B8 Subunit Complex I-B8 MC1DN13 CI-B8 CD14 CIB8
Location (GRCh38)
5:140638740-140647771
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
Cause of death analysis
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
NM_002488.5
Sequence length
649.0 nt
GC content
0.5162

Secondary Structure

Generated by RNAfold
Minimum free energy (MFE) structure:
Secondary structure that contributes a minimum of free energy.
Ensemble properties:
Thermodynamic properties of the Boltzmann ensemble.
Minimum free energy
-202.40 kcal/mol
Thermodynamic ensemble
Free energy: -214.18 kcal/mol
Frequency: 0.0000
Diversity: 170.44
MFE Structure Visualization
Structure Prediction
MFE Structure Prediction
((((..(((.....((...(((((.((.((((((.(((((((((((..(((((((((....((((..(((.(((...(((((...(((((((..((((((.((..(......)..)).))).)))..))))))).))).(((.(((.((((((((.((.((...(((...)))...)).)))))).....)))))))...)))..))...))).))).)))))))......((((((.((((((((...(((..(((((((.........)))))))(((((.((((..((((((.(((..............))).))))))...)))).))).))....((((....((((....))))....)).))...))))))))))).))))))))))))..))).)).)))))))))........).)).)).))))))).....))).))))(((....(((((.(((.(((.(((((.(((((..(((.(((.((((((.(((...(((......(((((((.(((((.....(((....))).....))))).)))))))(((..((((...))))..))).)))....))).)))))).))).)))..)))))...)))))))).))).)))))....)))......
Thermodynamic Ensemble Prediction
((((..(((.{,,.{,,..(({{{.((.({{{{{,{{{{{,,,.{{,.{((({{..}}}||{{({,{({{{((({{{(((((...(((((((..((((((.((..{......}..)).))},)))..))))))).})).{((.(((.((({{(((.{{.{(...{((..,))},..)).}}}}||,,,..}}}))}),,.))).,}}...}}}||},.||}|||},.,,|,((((((.((((((((...(((..{{.,(((..{{((.(((....))).}}},}..},,((((((((..{.((((((.((((,|{{..||||,...})))},.,})))...))))))...}..))))))))....,,.))...})))))))))).)))))).}))}},,}}},)).},,}}}},,......,.},}}.)).))))))).....))).)))){((....(((({.(((.(((.(((((.(((((..(({.(((.((((((.(({.{{(((......(((((((.(((((.....{{{....}}}.....))))).)))))))(((..((((...))))..))).))}..},})).)))))).))).}))..)))))...)))))))).))).}))))....))}......

Transcripts

ID Sequence Length GC content
NM_001185012.2 NCBI
GCACUUGGCCUGAAGACCUGGAAUUGGCGACUUCGAUAUUAACAAGGAU… 614 nt 0.5065
NM_002488.5 NCBI
GCACUUGGCCUGAAGACCUGGAAUUGGCGACUUCGAUAUUAACAAGGAU… 649 nt 0.5162
Summary

The encoded protein is a subunit of the hydrophobic protein fraction of the NADH:ubiquinone oxidoreductase (complex 1), the first enzyme complex in the electron transport chain located in the inner mitochondrial membrane, and may be involved in regulating complex I activity or its assembly via assistance in redox processes. Mutations in this gene are associated with Leigh syndrome, an early-onset progressive neurodegenerative disorder. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]

Forensic Context

A study in humans identified the NDUFA2 as one of the top ten most central mitochondrial-associated genes via protein-protein interaction network analysis during the investigation of sepsis biomarkers [Li et al. DOI:10.1186/s12920-024-01891-x]. A study in mice demonstrated that the NDUFA2 gene was upregulated in common in both blood and spleen leukocytes at 2 hours post-injury across three distinct models of systemic inflammation: trauma/hemorrhage, burn injury, and lipopolysaccharide infusion [Brownstein et al. DOI:10.1152/physiolgenomics.00213.2005]. This upregulation was identified through microarray analysis and is part of a common early transcriptional immune response, with the majority of such commonly altered genes being assignable to immune response and cell death pathways.