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Aliases for NDUFA2 Gene

Aliases for NDUFA2 Gene

  • NADH:Ubiquinone Oxidoreductase Subunit A2 2 3 5
  • 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 Dehydrogenase [Ubiquinone] 1 Alpha Subcomplex Subunit 2 3
  • NADH-Ubiquinone Oxidoreductase Subunit CI-B8 3
  • NADH-Ubiquinone Oxidoreductase B8 Subunit 4
  • Complex I-B8 4
  • CI-B8 4
  • CD14 3
  • CIB8 3
  • B8 3

External Ids for NDUFA2 Gene

Previous GeneCards Identifiers for NDUFA2 Gene

  • GC05M139841
  • 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 Leigh Syndrome and Leigh Syndrome With Leukodystrophy. Among its related pathways are Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. GO annotations related to this gene include NADH dehydrogenase (ubiquinone) activity.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies and piRNA Summary for NDUFA2 Gene

Genomics for NDUFA2 Gene

Regulatory Elements for NDUFA2 Gene

Enhancers for NDUFA2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05H140609 1.7 FANTOM5 Ensembl ENCODE 10.3 +36.9 36885 3 PKNOX1 ATF1 FOXA2 ARNT TCF12 ZNF766 CBX5 GATA2 ATF7 NCOA1 CD14 APBB3 TMCO6 SLC35A4 IK EIF4EBP3 ANKHD1 NDUFA2 SRA1 HBEGF
GH05H140601 1.4 FANTOM5 Ensembl ENCODE 10.5 +45.2 45190 2 FOXA2 MLX TAF1 MAX CEBPG ZNF384 YY1 POLR2A NFE2 THAP11 APBB3 CD14 SRA1 TMCO6 SLC35A4 IK NDUFA2 EIF4EBP3 HBEGF ANKHD1
GH05H140607 1.3 FANTOM5 Ensembl 10.3 +40.5 40453 0 FOXA2 ARID4B YY1 SLC30A9 ATF7 SP5 REST PPARG KAT8 NFIL3 APBB3 CD14 SLC35A4 EIF4EBP3 IK NDUFA2 HBEGF SRA1 ANKHD1 RPL36P11
GH05H140710 1.2 ENCODE 10.9 -63.2 -63199 1 PKNOX1 FOXA2 ARNT ARID4B SIN3A FEZF1 ZNF2 YY1 ZNF766 ZNF143 HARS2 PURA ANKHD1 HDAC3 WDR55 LOC102723915 PCDHB18P IK PCDHA4 HARS
GH05H140573 1 Ensembl ENCODE 10.6 +73.4 73421 1 FOXA2 MAX REST RAD21 FOXA1 NR2F2 GABPA YY1 TEAD3 JUND EIF4EBP3 WDR55 DND1 NDUFA2 IK HARS2 APBB3 GC05P142107
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around NDUFA2 on UCSC Golden Path with GeneCards custom track

Promoters for NDUFA2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000187814 85 1801 HDGF FOXA2 PKNOX1 ARNT SIN3A DMAP1 ZNF2 YY1 ZNF766 ZNF207

Genomic Location for NDUFA2 Gene

Chromosome:
5
Start:
140,638,740 bp from pter
End:
140,647,785 bp from pter
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

Suggested Antigen Peptide Sequences for NDUFA2 Gene

GenScript: Design optimal peptide antigens:

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

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)
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.

Gene Ontology (GO) - Molecular Function for NDUFA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008137 NADH dehydrogenase (ubiquinone) activity NAS,IBA 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

Clone Products

  • Applied Biological Materials Clones for NDUFA2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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
peroxisome 1

Gene Ontology (GO) - Cellular Components for NDUFA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
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
GO:0070469 respiratory chain IEA --
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: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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
FAD Approved Pharma 0
Ubiquinone-1 Experimental Pharma 0
Ubiquinone-2 Experimental Pharma 0
NADH Nutra Target 0
NAD Pharma Full agonist, Agonist 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Fe2+
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
15438-31-0
QH2
  • Coenzymes QH2
  • CoQH2
  • Reduced ubiquinone
  • Ubiquinol
  • Ubiquinone-1
56275-39-9
Sulfide
  • Sulfanediide
  • Sulfide
  • Sulfur
  • Sulphide
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 :
(5) Additional mRNA sequences :
(1) Selected AceView cDNA sequences:
(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for NDUFA2 Gene

NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for NDUFA2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

No ASD Table

Relevant External Links for NDUFA2 Gene

GeneLoc Exon Structure for
NDUFA2
ECgene alternative splicing isoforms for
NDUFA2

Expression for NDUFA2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for NDUFA2 Gene



Protein tissue co-expression partners for NDUFA2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of NDUFA2 Gene:

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
Organs:
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

Primer Products

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 33 34
  • 98.32 (n)
cow
(Bos Taurus)
Mammalia -- 34
  • 91 (a)
OneToMany
NDUFA2 33 34
  • 89.56 (n)
-- 34
  • 87 (a)
OneToMany
dog
(Canis familiaris)
Mammalia NDUFA2 33 34
  • 86.87 (n)
rat
(Rattus norvegicus)
Mammalia Ndufa2 33
  • 83.68 (n)
mouse
(Mus musculus)
Mammalia Ndufa2 33 16 34
  • 83.5 (n)
oppossum
(Monodelphis domestica)
Mammalia NDUFA2 34
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NDUFA2 34
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves NDUFA2 33 34
  • 71.87 (n)
lizard
(Anolis carolinensis)
Reptilia NDUFA2 34
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ndufa2 33
  • 69.79 (n)
zebrafish
(Danio rerio)
Actinopterygii ndufa2 33 34
  • 68.71 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003367 33
  • 57.83 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG15434 33 34
  • 57.38 (n)
worm
(Caenorhabditis elegans)
Secernentea Y63D3A.7 34
  • 49 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G47890 33
  • 51.61 (n)
rice
(Oryza sativa)
Liliopsida Os04g0310500 33
  • 62.08 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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)

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 from dbSNP and Humsavar for NDUFA2 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
VAR_036174 A breast cancer sample
rs757982865 Pathogenic 140,647,330(+) CCTTC(G/T)TCAGC nc-transcript-variant, upstream-variant-2KB, reference, missense, utr-variant-3-prime
rs863224084 Pathogenic 140,645,662(-) GAGAC(-/G)AATGT intron-variant, nc-transcript-variant, downstream-variant-500B, reference, utr-variant-3-prime, frameshift-variant
rs778593 Likely benign 140,647,631(+) AGTGC(C/T)CCGGT nc-transcript-variant, downstream-variant-500B, upstream-variant-2KB, utr-variant-5-prime
rs778594 Likely benign 140,647,719(+) AAAAG(C/T)ATTGT nc-transcript-variant, downstream-variant-500B, upstream-variant-2KB, utr-variant-5-prime

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)

Relevant External Links 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

(6) MalaCards diseases for NDUFA2 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
leigh syndrome
  • leigh syndrome due to mitochondrial complex i deficiency
leigh syndrome with leukodystrophy
  • infantile subacute necrotizing encephalopathy with leukodystrophy
orbital cancer
  • malignant neoplasm of orbit
multiple cranial nerve palsy
  • multiple cranial nerve palsies
glossopharyngeal nerve disease
  • glossopharyngeal nerve diseases
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for NDUFA2

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

No data available for UniProtKB/Swiss-Prot and 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 22 60
  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 60
  3. Accessory subunits are integral for assembly and function of human mitochondrial complex I. (PMID: 27626371) Stroud DA … Ryan MT (Nature 2016) 3 4 60
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 45 60
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60

Products for NDUFA2 Gene

Sources for NDUFA2 Gene

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