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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
  • NADH Dehydrogenase (Ubiquinone) 1 Alpha Subcomplex, Assembly Factor 2 2 3
  • NADH Dehydrogenase (Ubiquinone) Complex I, Assembly Factor 2 2 3
  • NDUFA12-Like Protein 3 4
  • NDUFA12L 3 4
  • B17.2L 3 4
  • MMTN 3 4
  • NADH Dehydrogenase [Ubiquinone] 1 Alpha Subcomplex Assembly Factor 2 4
  • NADH Dehydrogenase 1 Alpha Subcomplex Assembly Factor 2 3
  • NDUFA12-Like 2
  • B17.2-Like 4
  • Mimitin 3

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

UniProtKB/Swiss-Prot for NDUFAF2 Gene

  • Acts as a molecular chaperone for mitochondrial complex I assembly.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NDUFAF2 Gene

Genomics for NDUFAF2 Gene

Regulatory Elements for NDUFAF2 Gene

Enhancers for NDUFAF2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around NDUFAF2 on UCSC Golden Path with GeneCards custom track

Promoters for NDUFAF2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around NDUFAF2 on UCSC Golden Path with GeneCards custom track

Genomic Location for NDUFAF2 Gene

Chromosome:
5
Start:
60,945,129 bp from pter
End:
61,153,037 bp from pter
Size:
207,909 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-MIMIT_HUMAN
    Recommended name:
    Mimitin, mitochondrial
    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

Proteomics data for NDUFAF2 Gene at MOPED

Post-translational modifications for NDUFAF2 Gene

  • Ubiquitination at Lys 31 and Lys 39
  • Modification sites at PhosphoSitePlus

Other Protein References for NDUFAF2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for NDUFAF2 Gene

Domains & Families for NDUFAF2 Gene

Protein Domains for NDUFAF2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NDUFAF2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8N183

UniProtKB/Swiss-Prot:

MIMIT_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.
UniProtKB/Swiss-Prot Induction:
By MYC. Direct transcriptional target of MYC.

Gene Ontology (GO) - Molecular Function for NDUFAF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008137 NADH dehydrogenase (ubiquinone) activity IEA --
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:

Animal Model Products

CRISPR Products

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
Jensen Localization Image for NDUFAF2 Gene COMPARTMENTS Subcellular localization image for NDUFAF2 gene
Compartment Confidence
mitochondrion 5
nucleus 3
cytosol 2

No data available for Gene Ontology (GO) - Cellular Components for NDUFAF2 Gene

Pathways & Interactions for NDUFAF2 Gene

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

Interacting Proteins for NDUFAF2 Gene

Gene Ontology (GO) - Biological Process for NDUFAF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0022904 respiratory electron transport chain IEA --
GO:0061179 negative regulation of insulin secretion involved in cellular response to glucose stimulus IEA --
GO:0072593 reactive oxygen species metabolic 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 Nutra 0
genes like me logo Genes that share compounds with NDUFAF2: view

Transcripts for NDUFAF2 Gene

Unigene Clusters for NDUFAF2 Gene

NADH dehydrogenase (ubiquinone) complex I, assembly factor 2:
Representative Sequences:

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

No ASD Table

Relevant External Links for NDUFAF2 Gene

GeneLoc Exon Structure for
NDUFAF2
ECgene alternative splicing isoforms for
NDUFAF2

Expression for NDUFAF2 Gene

mRNA expression in normal human tissues 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, PaxDb, MOPED, and MaxQB for NDUFAF2 Gene



SOURCE GeneReport for Unigene cluster for NDUFAF2 Gene Hs.591757

mRNA Expression by UniProt/SwissProt for NDUFAF2 Gene

Q8N183-MIMIT_HUMAN
Tissue specificity: Highly expressed in ESCC cells. Also expressed in heart, skeletal muscle, liver, and in fibroblasts.
genes like me logo Genes that share expression patterns with NDUFAF2: view

Protein tissue co-expression partners for NDUFAF2 Gene

- Elite partner

Primer Products

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
cow
(Bos Taurus)
Mammalia NDUFAF2 35
  • 87.5 (n)
  • 80.36 (a)
NDUFAF2 36
  • 81 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NDUFAF2 35
  • 87.57 (n)
  • 78.7 (a)
NDUFAF2 36
  • 79 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ndufaf2 35
  • 84.33 (n)
  • 81.55 (a)
Ndufaf2 16
Ndufaf2 36
  • 82 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia NDUFAF2 35
  • 99.8 (n)
  • 100 (a)
rat
(Rattus norvegicus)
Mammalia Ndufaf2 35
  • 84.35 (n)
  • 80.49 (a)
oppossum
(Monodelphis domestica)
Mammalia NDUFAF2 36
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves NDUFAF2 35
  • 69.57 (n)
  • 59.63 (a)
NDUFAF2 36
  • 57 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NDUFAF2 36
  • 55 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ndufaf2 35
  • 62.5 (n)
  • 55.92 (a)
zebrafish
(Danio rerio)
Actinopterygii Dr.25651 35
ndufaf2 35
  • 62.18 (n)
  • 55.77 (a)
ndufaf2 36
  • 53 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13881 35
Species with no ortholog for NDUFAF2:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for NDUFAF2 Gene

Pseudogenes.org Pseudogenes for NDUFAF2 Gene

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

No data available for Paralogs for NDUFAF2 Gene

Variants for NDUFAF2 Gene

Sequence variations from dbSNP and Humsavar for NDUFAF2 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs723276 -- 61,081,309(-) aaaAC(A/G)TTATA intron-variant
rs726823 -- 61,036,852(+) TTGGT(A/C)TTGCC intron-variant
rs726824 -- 61,036,989(+) TCCTA(A/G)ATTTT intron-variant
rs767634 -- 61,048,470(+) TTTAT(A/G)GGAAG intron-variant
rs810883 -- 61,153,120(-) TTCTA(C/T)AGTAC downstream-variant-500B

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

Variant ID Type Subtype PubMed ID
dgv6076n71 CNV Loss 21882294
dgv6077n71 CNV Loss 21882294
nsv462199 CNV Gain 19166990
nsv462200 CNV Loss 19166990
nsv520871 CNV Loss 19592680
nsv881719 CNV Loss 21882294
nsv881721 CNV Loss 21882294
nsv518695 CNV Loss 19592680
nsv881722 CNV Gain 21882294
nsv4853 CNV Insertion 18451855
esv2671582 CNV Deletion 23128226
esv271023 CNV Insertion 20981092
esv2449569 CNV Loss 19546169
esv2426519 CNV Deletion 19546169
esv2198788 CNV Deletion 18987734
esv2663025 CNV Deletion 23128226
nsv329596 CNV Loss 16902084
esv25303 CNV Loss 19812545
esv2670191 CNV Deletion 23128226

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)

Relevant External Links for NDUFAF2 Gene

Human Gene Mutation Database (HGMD)
NDUFAF2

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

Disorders for NDUFAF2 Gene

MalaCards: The human disease database

(6) MalaCards diseases for NDUFAF2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
mitochondrial complex i deficiency
  • mitochondrial complex 1 deficiency
leigh syndrome
  • leigh syndrome due to mitochondrial complex i deficiency
leigh syndrome with leukodystrophy
  • infantile subacute necrotizing encephalopathy with leukodystrophy
mitochondrial dna deletion syndromes
  • mtdna deletion syndromes
mitochondrial dna-associated leigh syndrome
  • leigh disease, maternally inherited
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

MIMIT_HUMAN
  • Mitochondrial complex I deficiency (MT-C1D) [MIM:252010]: A disorder of the mitochondrial respiratory chain that causes a wide range of clinical manifestations 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. {ECO:0000269 PubMed:16200211}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for NDUFAF2

Genetic Association Database (GAD)
NDUFAF2
Human Genome Epidemiology (HuGE) Navigator
NDUFAF2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NDUFAF2
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. (J. Biol. Chem. 2005) 2 3 4 23 67
  2. Investigation of the complex I assembly chaperones B17.2L and NDUFAF1 in a cohort of CI deficient patients. (PMID: 17383918) Vogel R.O. … Nijtmans L.G. (Mol. Genet. Metab. 2007) 2 3
  3. A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy. (PMID: 16200211) Ogilvie I. … Shoubridge E.A. (J. Clin. Invest. 2005) 2 3
  4. Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing. (PMID: 26871637) Yang X. … Vidal M. (Cell 2016) 3
  5. Quantitative proteomic analysis of mitochondria from human ovarian cancer cells and their paclitaxel-resistant sublines. (PMID: 26033570) Chen M. … Pan L. (Cancer Sci. 2015) 3

Products for NDUFAF2 Gene

Sources for NDUFAF2 Gene

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