NADH:ubiquinone oxidoreductase (complex I) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain, resulting in the translocation of protons across the inner mitochondrial membrane. This gene encodes a complex I assembly factor. Mutations in this gene cause progressive encephalopathy resulting from mitoc... See more...

Aliases for NDUFAF2 Gene

Aliases for NDUFAF2 Gene

  • NADH:Ubiquinone Oxidoreductase Complex Assembly Factor 2 2 3 5
  • Myc-Induced Mitochondrial Protein 2 3 4
  • Mimitin 2 3 4
  • B17.2L 2 3 4
  • MMTN 2 3 4
  • NADH Dehydrogenase (Ubiquinone) 1 Alpha Subcomplex, Assembly Factor 2 2 3
  • NADH Dehydrogenase [Ubiquinone] 1 Alpha Subcomplex Assembly Factor 2 3 4
  • NADH Dehydrogenase (Ubiquinone) Complex I, Assembly Factor 2 2 3
  • NDUFA12-Like Protein 3 4
  • NDUFA12L 3 4
  • NADH Dehydrogenase 1 Alpha Subcomplex Assembly Factor 2 3
  • Mimitin, Mitochondrial 3
  • NDUFA12-Like 2
  • B17.2-Like 4
  • MC1DN10 3
  • NDUFAF2 5

External Ids for NDUFAF2 Gene

Previous HGNC Symbols for NDUFAF2 Gene

  • NDUFA12L

Previous GeneCards Identifiers for NDUFAF2 Gene

  • GC05P060279
  • GC05P057199
  • GC05P060240

Summaries for NDUFAF2 Gene

Entrez Gene Summary for NDUFAF2 Gene

  • NADH:ubiquinone oxidoreductase (complex I) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain, resulting in the translocation of protons across the inner mitochondrial membrane. This gene encodes a complex I assembly factor. Mutations in this gene cause progressive encephalopathy resulting from mitochondrial complex I deficiency. [provided by RefSeq, Jul 2008]

GeneCards Summary for NDUFAF2 Gene

NDUFAF2 (NADH:Ubiquinone Oxidoreductase Complex Assembly Factor 2) is a Protein Coding gene. Diseases associated with NDUFAF2 include Mitochondrial Complex I Deficiency, Nuclear Type 10 and Mitochondrial Complex I Deficiency, Nuclear Type 1. Among its related pathways are Validated targets of C-MYC transcriptional activation and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Gene Ontology (GO) annotations related to this gene include NADH dehydrogenase (ubiquinone) activity. An important paralog of this gene is HMGA2.

UniProtKB/Swiss-Prot Summary for NDUFAF2 Gene

  • Acts as a molecular chaperone for mitochondrial complex I assembly (PubMed:16200211, PubMed:19384974). 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 (PubMed:16200211, PubMed:27626371).

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NDUFAF2 Gene

Genomics for NDUFAF2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for NDUFAF2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NDUFAF2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NDUFAF2

Top Transcription factor binding sites by QIAGEN in the NDUFAF2 gene promoter:
  • aMEF-2
  • AREB6
  • CP1A
  • CP1C
  • FOXC1
  • HEN1
  • MEF-2A
  • NF-Y
  • RSRFC4
  • XBP-1

Genomic Locations for NDUFAF2 Gene

Latest Assembly
chr5:60,945,177-61,154,531
(GRCh38/hg38)
Size:
209,355 bases
Orientation:
Plus strand

Previous Assembly
chr5:60,241,032-60,448,853
(GRCh37/hg19 by Entrez Gene)
Size:
207,822 bases
Orientation:
Plus strand

chr5:60,240,956-60,448,853
(GRCh37/hg19 by Ensembl)
Size:
207,898 bases
Orientation:
Plus strand

Genomic View for NDUFAF2 Gene

Genes around NDUFAF2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NDUFAF2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NDUFAF2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NDUFAF2 Gene

Proteins for NDUFAF2 Gene

  • Protein details for NDUFAF2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N183-NDUF2_HUMAN
    Recommended name:
    NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 2
    Protein Accession:
    Q8N183
    Secondary Accessions:
    • A8K5I1

    Protein attributes for NDUFAF2 Gene

    Size:
    169 amino acids
    Molecular mass:
    19856 Da
    Quaternary structure:
    No Data Available

neXtProt entry for NDUFAF2 Gene

Post-translational modifications for NDUFAF2 Gene

  • Ubiquitination at Lys31 and Lys39
  • Modification sites at PhosphoSitePlus

Other Protein References for NDUFAF2 Gene

Antibodies for research

  • Abcam antibodies for NDUFAF2
  • Santa Cruz Biotechnology (SCBT) Antibodies for NDUFAF2

No data available for DME Specific Peptides for NDUFAF2 Gene

Domains & Families for NDUFAF2 Gene

Gene Families for NDUFAF2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for NDUFAF2 Gene

InterPro:

Suggested Antigen Peptide Sequences for NDUFAF2 Gene

GenScript: Design optimal peptide antigens:
  • NDUFA12-like protein (MIMIT_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8N183

UniProtKB/Swiss-Prot:

NDUF2_HUMAN :
  • Belongs to the complex I NDUFA12 subunit family.
Family:
  • Belongs to the complex I NDUFA12 subunit family.
genes like me logo Genes that share domains with NDUFAF2: view

Function for NDUFAF2 Gene

Molecular function for NDUFAF2 Gene

UniProtKB/Swiss-Prot Function:
Acts as a molecular chaperone for mitochondrial complex I assembly (PubMed:16200211, PubMed:19384974). 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 (PubMed:16200211, PubMed:27626371).
UniProtKB/Swiss-Prot Induction:
By MYC. Direct transcriptional target of MYC.

Phenotypes From GWAS Catalog for NDUFAF2 Gene

Gene Ontology (GO) - Molecular Function for NDUFAF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 32296183
GO:0008137 NADH dehydrogenase (ubiquinone) activity IEA --
GO:0009055 electron transfer activity IEA --
GO:0044877 protein-containing complex binding IDA 16200211
genes like me logo Genes that share ontologies with NDUFAF2: view
genes like me logo Genes that share phenotypes with NDUFAF2: view

Human Phenotype Ontology for NDUFAF2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NDUFAF2 Gene

MGI Knock Outs for NDUFAF2:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NDUFAF2

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for NDUFAF2 Gene

Localization for NDUFAF2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NDUFAF2 Gene

Mitochondrion.

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 NDUFAF2 gene
Compartment Confidence
mitochondrion 5
nucleus 3
cytosol 2
cytoskeleton 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for NDUFAF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA,IDA 16200211
GO:0005743 mitochondrial inner membrane TAS --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with NDUFAF2: view

Pathways & Interactions for NDUFAF2 Gene

genes like me logo Genes that share pathways with NDUFAF2: view

Gene Ontology (GO) - Biological Process for NDUFAF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0022900 electron transport chain IEA --
GO:0032981 mitochondrial respiratory chain complex I assembly IMP,TAS --
GO:0045333 cellular respiration IBA --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with NDUFAF2: view

No data available for SIGNOR curated interactions for NDUFAF2 Gene

Drugs & Compounds for NDUFAF2 Gene

(1) Drugs for NDUFAF2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NADH Approved Nutra 0
genes like me logo Genes that share compounds with NDUFAF2: view

Transcripts for NDUFAF2 Gene

mRNA/cDNA for NDUFAF2 Gene

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NDUFAF2

Alternative Splicing Database (ASD) splice patterns (SP) for NDUFAF2 Gene

No ASD Table

Relevant External Links for NDUFAF2 Gene

GeneLoc Exon Structure for
NDUFAF2

Expression for NDUFAF2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NDUFAF2 Gene

Protein differential expression in normal tissues from HIPED for NDUFAF2 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (12.7), Frontal cortex (9.9), and Lymph node (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NDUFAF2 Gene



Protein tissue co-expression partners for NDUFAF2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NDUFAF2

SOURCE GeneReport for Unigene cluster for NDUFAF2 Gene:

Hs.591757

mRNA Expression by UniProt/SwissProt for NDUFAF2 Gene:

Q8N183-NDUF2_HUMAN
Tissue specificity: Highly expressed in ESCC cells. Also expressed in heart, skeletal muscle, liver, and in fibroblasts.

Evidence on tissue expression from TISSUES for NDUFAF2 Gene

  • Nervous system(4.4)
  • Eye(4.2)
  • Muscle(2.2)
  • Heart(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for NDUFAF2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • meninges
  • neck
  • skull
Thorax:
  • esophagus
  • heart
  • heart valve
  • lung
Abdomen:
  • adrenal gland
  • liver
  • stomach
Limb:
  • foot
  • lower limb
General:
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
  • sweat gland
genes like me logo Genes that share expression patterns with NDUFAF2: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for NDUFAF2 Gene

Orthologs for NDUFAF2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for NDUFAF2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia NDUFAF2 29
  • 99.8 (n)
Dog
(Canis familiaris)
Mammalia NDUFAF2 29 30
  • 87.57 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia NDUFAF2 29 30
  • 87.5 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ndufaf2 29
  • 84.35 (n)
Mouse
(Mus musculus)
Mammalia Ndufaf2 29 16 30
  • 84.33 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia NDUFAF2 30
  • 66 (a)
OneToOne
Chicken
(Gallus gallus)
Aves NDUFAF2 29 30
  • 69.57 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia NDUFAF2 30
  • 55 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ndufaf2 29
  • 62.5 (n)
Zebrafish
(Danio rerio)
Actinopterygii ndufaf2 29 30
  • 62.18 (n)
OneToOne
Dr.25651 29
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13881 29
Species where no ortholog for NDUFAF2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • Fruit Fly (Drosophila melanogaster)
  • 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)
  • Platypus (Ornithorhynchus anatinus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for NDUFAF2 Gene

ENSEMBL:
Gene Tree for NDUFAF2 (if available)
TreeFam:
Gene Tree for NDUFAF2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NDUFAF2: view image
Alliance of Genome Resources:
Additional Orthologs for NDUFAF2

Paralogs for NDUFAF2 Gene

Paralogs for NDUFAF2 Gene

Pseudogenes.org Pseudogenes for NDUFAF2 Gene

genes like me logo Genes that share paralogs with NDUFAF2: view

Variants for NDUFAF2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NDUFAF2 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
1033211 Pathogenic: Leigh syndrome 61,152,723(+) AAC/A
NM_174889.5(NDUFAF2):c.282_283del (p.His94fs)
FRAMESHIFT
904500 Uncertain Significance: Leigh syndrome; Mitochondrial complex I deficiency, nuclear type 1 61,152,868(+) A/G
NM_174889.5(NDUFAF2):c.423A>G (p.Glu141=)
SYNONYMOUS
906819 Uncertain Significance: Leigh syndrome; Mitochondrial complex I deficiency, nuclear type 1 60,945,355(+) T/C
NM_174889.5(NDUFAF2):c.100T>C (p.Tyr34His)
MISSENSE
907813 Uncertain Significance: Leigh syndrome; Mitochondrial complex I deficiency, nuclear type 1 61,073,133(+) A/G
NM_174889.5(NDUFAF2):c.136A>G (p.Ile46Val)
MISSENSE
984515 Likely Pathogenic: Leigh syndrome 61,073,125(+) GAC/G
NM_174889.5(NDUFAF2):c.130_131del (p.Gln44fs)
FRAMESHIFT

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for NDUFAF2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for NDUFAF2 Gene

Variant ID Type Subtype PubMed ID
dgv9810n54 CNV loss 21841781
dgv9811n54 CNV loss 21841781
esv2198788 CNV deletion 18987734
esv2426519 CNV deletion 19546169
esv2449569 CNV loss 19546169
esv25303 CNV loss 19812545
esv2663025 CNV deletion 23128226
esv2670191 CNV deletion 23128226
esv2671582 CNV deletion 23128226
esv3306747 CNV mobile element insertion 20981092
esv3364315 CNV insertion 20981092
esv3439153 CNV insertion 20981092
esv3565987 CNV deletion 23714750
esv3565988 CNV deletion 23714750
esv3570168 CNV loss 25503493
esv3605201 CNV loss 21293372
esv3605202 CNV loss 21293372
esv3605203 CNV loss 21293372
esv3605204 CNV gain 21293372
esv3605205 CNV loss 21293372
esv3605207 CNV loss 21293372
esv3605208 CNV gain 21293372
esv3605210 CNV loss 21293372
esv3894196 CNV loss 25118596
nsv1019307 CNV gain 25217958
nsv1025896 CNV loss 25217958
nsv1161251 CNV deletion 26073780
nsv329596 CNV deletion 16902084
nsv462199 CNV gain 19166990
nsv462200 CNV loss 19166990
nsv4853 CNV insertion 18451855
nsv518695 CNV loss 19592680
nsv520871 CNV loss 19592680
nsv598308 CNV gain 21841781
nsv598313 CNV loss 21841781
nsv598314 CNV loss 21841781

Variation tolerance for NDUFAF2 Gene

Residual Variation Intolerance Score: 45.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.46; 10.00% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NDUFAF2 Gene

Human Gene Mutation Database (HGMD)
NDUFAF2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NDUFAF2
Leiden Open Variation Database (LOVD)
NDUFAF2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NDUFAF2 Gene

Disorders for NDUFAF2 Gene

MalaCards: The human disease database

(13) MalaCards diseases for NDUFAF2 Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

NDUF2_HUMAN
  • Mitochondrial complex I deficiency, nuclear type 10 (MC1DN10) [MIM:618233]: 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. MC1DN10 transmission pattern is consistent with autosomal recessive inheritance. {ECO:0000269 PubMed:16200211, ECO:0000269 PubMed:18180188, ECO:0000269 PubMed:19384974, ECO:0000269 PubMed:20571988}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for NDUFAF2

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with NDUFAF2: view

No data available for Genatlas for NDUFAF2 Gene

Publications for NDUFAF2 Gene

  1. A novel Myc-target gene, mimitin, that is involved in cell proliferation of esophageal squamous cell carcinoma. (PMID: 15774466) Tsuneoka M … Koda Y (The Journal of biological chemistry 2005) 2 3 4 22
  2. A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy. (PMID: 16200211) Ogilvie I … Shoubridge EA (The Journal of clinical investigation 2005) 2 3 4 72
  3. Baculovirus complementation restores a novel NDUFAF2 mutation causing complex I deficiency. (PMID: 19384974) Hoefs SJ … van den Heuvel LP (Human mutation 2009) 3 4 72
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 40
  5. Leigh disease with brainstem involvement in complex I deficiency due to assembly factor NDUFAF2 defect. (PMID: 20571988) Herzer M … Sperl W (Neuropediatrics 2010) 3 4

Products for NDUFAF2 Gene

Sources for NDUFAF2 Gene