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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
  • Mimitin, Mitochondrial 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 Validated targets of C-MYC transcriptional activation. 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 CIViC summary , 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 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
GH05G060943 1.5 FANTOM5 ENCODE 9.3 -0.1 -102 3.2 HDGF PKNOX1 CREB3L1 WRNIP1 ARID4B SIN3A ZNF2 YY1 ZNF766 ZNF548 ZSWIM6 ELOVL7 ERCC8 NDUFAF2 LOC105378991
GH05G060842 1 ENCODE 8.7 -101.1 -101062 2.4 ATF1 ZFP64 ARID4B SIN3A ZNF2 ZNF121 GLIS2 FOS ZNF263 SP3 ERCC8 NDUFAF2 ELOVL7 KRT8P31
GH05G061050 0.8 ENCODE 8.7 +107.3 107263 4.6 JUN FEZF1 ZEB1 GATA2 ZNF366 FOS PRDM10 ZBTB20 TCF7L2 ZNF362 ERCC8 RNU6-913P NDUFAF2 GC05P061100
GH05G061200 0.8 ENCODE 8.5 +255.7 255669 1.0 ELF3 SOX13 FOXA2 SAP130 EBF1 ZIC2 ZNF644 EED RELB IKZF2 NDUFAF2 ELOVL7 ERCC8 GC05M061170 GC05P061249
GH05G061161 1.1 ENCODE 4 +217.6 217580 2.7 HDGF FOXA2 CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207 FOS ERCC8 ELOVL7 NDUFAF2 SMIM15 GC05P061168
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000181351 271 2401 HDGF PKNOX1 CREB3L1 WRNIP1 ARID4B SIN3A ZNF2 YY1 ZNF766 ZNF548

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

Post-translational modifications for NDUFAF2 Gene

  • Ubiquitination at Lys31 and posLast=3939
  • 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 --
GO:0009055 electron carrier 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
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

Gene Ontology (GO) - Cellular Components for NDUFAF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA 22587331
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:0022904 respiratory electron transport chain IEA --
GO:0032981 mitochondrial respiratory chain complex I assembly TAS --
GO:0045333 cellular respiration IBA --
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 from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for NDUFAF2 Gene



Protein tissue co-expression partners for NDUFAF2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of NDUFAF2 Gene:

NDUFAF2

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.

Evidence on tissue expression from TISSUES for NDUFAF2 Gene

  • Nervous system(4.3)
  • Eye(4.2)

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
Organs:
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

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 34
  • 99.8 (n)
dog
(Canis familiaris)
Mammalia NDUFAF2 34 35
  • 87.57 (n)
cow
(Bos Taurus)
Mammalia NDUFAF2 34 35
  • 87.5 (n)
rat
(Rattus norvegicus)
Mammalia Ndufaf2 34
  • 84.35 (n)
mouse
(Mus musculus)
Mammalia Ndufaf2 16 35 34
  • 84.33 (n)
oppossum
(Monodelphis domestica)
Mammalia NDUFAF2 35
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves NDUFAF2 34 35
  • 69.57 (n)
lizard
(Anolis carolinensis)
Reptilia NDUFAF2 35
  • 55 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ndufaf2 34
  • 62.5 (n)
zebrafish
(Danio rerio)
Actinopterygii ndufaf2 34 35
  • 62.18 (n)
Dr.25651 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13881 34
Species where no ortholog for NDUFAF2 was found in the sources mined by GeneCards:
  • 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
rs121434324 Pathogenic 60,944,972(-) GTTTG(G/T)AGGAC upstream-variant-2KB, reference, stop-gained, utr-variant-5-prime
rs137852863 Pathogenic 61,073,136(+) CTATT(C/T)GAGAG reference, stop-gained
rs760647945 Pathogenic 61,152,828(+) AACTC(-/AAATT)AAAGG reference, frameshift-variant
rs775605330 Likely pathogenic 61,073,128(+) AGGAC(A/C)AACTA reference, missense
rs158921 Likely benign 60,945,315(-) TGCTC(C/T)TTCAC upstream-variant-2KB, reference, synonymous-codon

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)

Relevant External Links for NDUFAF2 Gene

Human Gene Mutation Database (HGMD)
NDUFAF2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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 myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
  • melas syndrome
- 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 22 64
  2. 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 64
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64
  5. Polymorphisms in mitochondrial genes and prostate cancer risk. (PMID: 19064571) Wang L. … Thibodeau S.N. (Cancer Epidemiol. Biomarkers Prev. 2008) 3 46 64

Products for NDUFAF2 Gene

Sources for NDUFAF2 Gene

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