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 syndr... See more...

Aliases for NDUFA2 Gene

Aliases for NDUFA2 Gene

  • NADH:Ubiquinone Oxidoreductase Subunit A2 2 3 5
  • NADH Dehydrogenase [Ubiquinone] 1 Alpha Subcomplex Subunit 2 3 4
  • NADH Dehydrogenase (Ubiquinone) 1 Alpha Subcomplex, 2, 8kDa 2 3
  • Complex I B8 Subunit 2 3
  • NADH Dehydrogenase (Ubiquinone) 1 Alpha Subcomplex, 2 (8kD, B8) 2
  • NADH-Ubiquinone Oxidoreductase Subunit CI-B8 3
  • NADH-Ubiquinone Oxidoreductase B8 Subunit 4
  • Complex I-B8 4
  • MC1DN13 3
  • CI-B8 4
  • CD14 3
  • CIB8 3
  • B8 3

External Ids for NDUFA2 Gene

Previous GeneCards Identifiers for NDUFA2 Gene

  • GC05M139841
  • GC05M140607
  • GC05M140008
  • GC05M140053
  • GC05M140005
  • GC05M135170

Summaries for NDUFA2 Gene

Entrez Gene Summary for NDUFA2 Gene

  • 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]

GeneCards Summary for NDUFA2 Gene

NDUFA2 (NADH:Ubiquinone Oxidoreductase Subunit A2) is a Protein Coding gene. Diseases associated with NDUFA2 include Mitochondrial Complex I Deficiency, Nuclear Type 13 and Leukoencephalopathy, Cystic, Without Megalencephaly. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and GABAergic synapse. Gene Ontology (GO) annotations related to this gene include NADH dehydrogenase (ubiquinone) activity.

UniProtKB/Swiss-Prot Summary for NDUFA2 Gene

  • Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone.

Gene Wiki entry for NDUFA2 Gene

Additional gene information for NDUFA2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NDUFA2 Gene

Genomics for NDUFA2 Gene

GeneHancer (GH) Regulatory Elements for NDUFA2 Gene

Promoters and enhancers for NDUFA2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J140646 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 0.0 -16 2.8 FOXK2 ZBTB40 ZNF217 EP300 SIN3A NRF1 TCF12 POLR2G SP1 GTF2E2 MIR3655 IK NDUFA2 RF00017-4951 lnc-NDUFA2-1 piR-50576 SRA1 ENSG00000228737 EIF4EBP3 CD14
GH05J140710 Promoter/Enhancer 1.8 Ensembl ENCODE CraniofacialAtlas 10.9 -63.2 -63216 2 ZBTB40 ZSCAN5C SIN3A NRF1 TCF12 POLR2G SP1 RBAK JUND PHB2 LOC105378198 VTRNA1-1 lnc-HARS-1 PCDHB18P PURA PCDHGA6 PCDHA4 PCDHB19P HARS1 PCDHGA7
GH05J140611 Promoter/Enhancer 1.5 FANTOM5 Ensembl ENCODE 10.3 +36.0 35954 1.5 GTF2E2 PHB2 AFF1 TARDBP HES1 RUNX1 CTBP1 MYC HDAC3 NCOR1 CD14 TMCO6 APBB3 ANKHD1 IK WDR55 HARS2 SLC35A4 EIF4EBP3 NDUFA2
GH05J140601 Promoter/Enhancer 1.3 FANTOM5 Ensembl ENCODE 10.5 +45.2 45225 1.9 TEAD1 FOXA2 FOS CEBPB ZBTB33 SPI1 NFE2 JUND EP300 ZNF189 APBB3 CD14 SRA1 TMCO6 SLC35A4 IK NDUFA2 EIF4EBP3 HBEGF ANKHD1
GH05J140588 Promoter/Enhancer 1 FANTOM5 Ensembl ENCODE 10.8 +58.3 58326 2.3 NFIC SPI1 EZH2 ATF3 STAT3 piR-59211 APBB3 CD14 SLC35A4 IK NDUFA2 EIF4EBP3 SRA1 HBEGF ANKHD1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NDUFA2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NDUFA2

Top Transcription factor binding sites by QIAGEN in the NDUFA2 gene promoter:
  • ATF-2
  • c-Jun
  • CREB
  • deltaCREB

Genomic Locations for NDUFA2 Gene

Genomic Locations for NDUFA2 Gene
chr5:140,638,740-140,647,785
(GRCh38/hg38)
Size:
9,046 bases
Orientation:
Minus strand
chr5:140,018,325-140,027,370
(GRCh37/hg19)
Size:
9,046 bases
Orientation:
Minus strand

Genomic View for NDUFA2 Gene

Genes around NDUFA2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NDUFA2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NDUFA2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NDUFA2 Gene

Proteins for NDUFA2 Gene

  • Protein details for NDUFA2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43678-NDUA2_HUMAN
    Recommended name:
    NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 2
    Protein Accession:
    O43678
    Secondary Accessions:
    • D6RJD6
    • Q6IAY8

    Protein attributes for NDUFA2 Gene

    Size:
    99 amino acids
    Molecular mass:
    10922 Da
    Quaternary structure:
    • Complex I is composed of 45 different subunits.

    Three dimensional structures from OCA and Proteopedia for NDUFA2 Gene

    Alternative splice isoforms for NDUFA2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NDUFA2 Gene

Post-translational modifications for NDUFA2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NDUFA2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for NDUFA2 Gene

Domains & Families for NDUFA2 Gene

Gene Families for NDUFA2 Gene

Protein Domains for NDUFA2 Gene

Blocks:
  • Mitochondrial ribosome
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NDUFA2 Gene

GenScript: Design optimal peptide antigens:
  • NADH-ubiquinone oxidoreductase B8 subunit (NDUA2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O43678

UniProtKB/Swiss-Prot:

NDUA2_HUMAN :
  • Belongs to the complex I NDUFA2 subunit family.
Family:
  • Belongs to the complex I NDUFA2 subunit family.
genes like me logo Genes that share domains with NDUFA2: view

Function for NDUFA2 Gene

Molecular function for NDUFA2 Gene

UniProtKB/Swiss-Prot Function:
Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone.
GENATLAS Biochemistry:
NADH ubiquinone oxidoreductase (Q reductase),8kDa,component alpha 2,hydrophobic fraction of the complex I multi-subunit enzyme of the oxidative phosphorylation (OXPHOS)

Phenotypes From GWAS Catalog for NDUFA2 Gene

Gene Ontology (GO) - Molecular Function for NDUFA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008137 NADH dehydrogenase (ubiquinone) activity NAS 9878551
genes like me logo Genes that share ontologies with NDUFA2: view
genes like me logo Genes that share phenotypes with NDUFA2: view

Human Phenotype Ontology for NDUFA2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NDUFA2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for NDUFA2 Gene

Localization for NDUFA2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NDUFA2 Gene

Mitochondrion inner membrane; Peripheral membrane protein; Matrix side.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NDUFA2 gene
Compartment Confidence
mitochondrion 5
cytosol 3
extracellular 2
nucleus 2
plasma membrane 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for NDUFA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005743 mitochondrial inner membrane TAS --
GO:0005747 mitochondrial respiratory chain complex I NAS 9878551
GO:0016020 membrane IEA --
GO:0031966 mitochondrial membrane IDA 17209039
genes like me logo Genes that share ontologies with NDUFA2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for NDUFA2 Gene

Pathways & Interactions for NDUFA2 Gene

genes like me logo Genes that share pathways with NDUFA2: view

Gene Ontology (GO) - Biological Process for NDUFA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001835 blastocyst hatching IEA --
GO:0006120 mitochondrial electron transport, NADH to ubiquinone TAS --
GO:0032981 mitochondrial respiratory chain complex I assembly TAS --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with NDUFA2: view

No data available for SIGNOR curated interactions for NDUFA2 Gene

Drugs & Compounds for NDUFA2 Gene

(6) Drugs for NDUFA2 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NADH Approved Nutra Target 0
FAD Approved Pharma 0
Iron Approved, Experimental Pharma 1496
NAD Experimental Pharma Full agonist, Agonist, Activator 0
Ubiquinone-1 Experimental Pharma 0

(2) Additional Compounds for NDUFA2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
QH2
  • CoQH2
  • Coenzymes QH2
  • Reduced ubiquinone
  • Ubiquinol
  • Ubiquinone-1
56275-39-9
Sulfide
  • S(2-)
  • Sulphide
  • Sulfanediide
  • Sulfur
18496-25-8
genes like me logo Genes that share compounds with NDUFA2: view

Transcripts for NDUFA2 Gene

mRNA/cDNA for NDUFA2 Gene

2 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NDUFA2

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NDUFA2 Gene

No ASD Table

Relevant External Links for NDUFA2 Gene

GeneLoc Exon Structure for
NDUFA2

Expression for NDUFA2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NDUFA2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for NDUFA2 Gene

This gene is overexpressed in Heart (6.7) and Brain (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NDUFA2 Gene



Protein tissue co-expression partners for NDUFA2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NDUFA2

SOURCE GeneReport for Unigene cluster for NDUFA2 Gene:

Hs.75914

Evidence on tissue expression from TISSUES for NDUFA2 Gene

  • Blood(4.4)
  • Heart(4.4)
  • Kidney(4.4)
  • Adrenal gland(4.3)
  • Bone marrow(2.6)
  • Lung(2.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for NDUFA2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cranial nerve
  • eye
  • eyelid
  • face
  • head
  • meninges
  • neck
Thorax:
  • lung
Abdomen:
  • liver
General:
  • hair
  • peripheral nervous system
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with NDUFA2: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for NDUFA2 Gene

Orthologs for NDUFA2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for NDUFA2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NDUFA2 31 30
  • 98.32 (n)
OneToOne
cow
(Bos Taurus)
Mammalia -- 31
  • 91 (a)
OneToMany
NDUFA2 31 30
  • 89.56 (n)
OneToMany
-- 31
  • 87 (a)
OneToMany
dog
(Canis familiaris)
Mammalia NDUFA2 31 30
  • 86.87 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ndufa2 30
  • 83.68 (n)
mouse
(Mus musculus)
Mammalia Ndufa2 17 31 30
  • 83.5 (n)
oppossum
(Monodelphis domestica)
Mammalia NDUFA2 31
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NDUFA2 31
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves NDUFA2 31 30
  • 71.87 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NDUFA2 31
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ndufa2 30
  • 69.79 (n)
zebrafish
(Danio rerio)
Actinopterygii ndufa2 31 30
  • 68.71 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003367 30
  • 57.83 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG15434 31 30
  • 57.38 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea Y63D3A.7 31
  • 49 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G47890 30
  • 51.61 (n)
rice
(Oryza sativa)
Liliopsida Os04g0310500 30
  • 62.08 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 52 (a)
OneToOne
Species where no ortholog for NDUFA2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for NDUFA2 Gene

ENSEMBL:
Gene Tree for NDUFA2 (if available)
TreeFam:
Gene Tree for NDUFA2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NDUFA2: view image

Paralogs for NDUFA2 Gene

Pseudogenes.org Pseudogenes for NDUFA2 Gene

genes like me logo Genes that share paralogs with NDUFA2: view

No data available for Paralogs for NDUFA2 Gene

Variants for NDUFA2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NDUFA2 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
669900 Benign: not provided 140,646,942(-) A/T INTRON_VARIANT
675849 Likely Benign: not provided 140,647,688(-) GC/G NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT
682691 Benign: not provided 140,645,899(-) G/A INTRON_VARIANT
718911 Likely Benign: not provided 140,647,296(-) G/A NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
740814 Likely Benign: not provided 140,647,314(-) G/A NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for NDUFA2 Gene

Variation tolerance for NDUFA2 Gene

Residual Variation Intolerance Score: 69.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.41; 9.00% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NDUFA2 Gene

Human Gene Mutation Database (HGMD)
NDUFA2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NDUFA2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for NDUFA2 Gene

Disorders for NDUFA2 Gene

MalaCards: The human disease database

(13) MalaCards diseases for NDUFA2 Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
mitochondrial complex i deficiency, nuclear type 13
  • mc1dn13
leukoencephalopathy, cystic, without megalencephaly
  • rnase t2-deficient leukoencephalopathy
leigh syndrome with leukodystrophy
  • infantile subacute necrotizing encephalopathy with leukodystrophy
vulvar angiokeratoma
  • fordyce angiokeratoma of vulva
leigh syndrome
  • ls
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

NDUA2_HUMAN
  • Mitochondrial complex I deficiency, nuclear type 13 (MC1DN13) [MIM:618235]: A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN13 transmission pattern is consistent with autosomal recessive inheritance. {ECO:0000269 PubMed:18513682}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for NDUFA2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with NDUFA2: view

No data available for Genatlas for NDUFA2 Gene

Publications for NDUFA2 Gene

  1. The oxidized subunit B8 from human complex I adopts a thioredoxin fold. (PMID: 15341729) Brockmann C … Oschkinat H (Structure (London, England : 1993) 2004) 3 4 23 54
  2. Identification and primary structure of five human NADH-ubiquinone oxidoreductase subunits. (PMID: 9425316) Ton C … Liew CC (Biochemical and biophysical research communications 1997) 2 3 4 54
  3. Accessory subunits are integral for assembly and function of human mitochondrial complex I. (PMID: 27626371) Stroud DA … Ryan MT (Nature 2016) 3 4 54
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41 54
  5. NDUFA2 complex I mutation leads to Leigh disease. (PMID: 18513682) Hoefs SJ … van den Heuvel LP (American journal of human genetics 2008) 3 4 54

Products for NDUFA2 Gene

Sources for NDUFA2 Gene