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Gene Review

NDUFA2  -  NADH dehydrogenase (ubiquinone) 1 alpha...

Homo sapiens

Synonyms: B8, CD14, CI-B8, CIB8, Complex I-B8, ...
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Disease relevance of NDUFA2

  • When introduced with vector pHPT (lacking Epstein-Barr virus oriP), the B8 gene was inserted at different chromosomal locations [1].
  • We identified several classes of gene expression changes, including those associated with the non-neoplastic state in the B8 transgenic mouse, those associated with astrocytoma formation, and those specifically associated with only one of the three independently derived transgenic mouse astrocytomas [2].
  • The effect of virion age on the two A and B 8 S RNA conformational isomers was investigated by electrophoresis on polyacrylamide gels [3].
  • Despite binding of CD14 to the LPS, a vital constituent of bacterial outer membrane, we have succeeded in producing full length recombinant hCD14 in E. coli [4].

High impact information on NDUFA2

  • One of the maternal haplotypes is the frequently occurring HLA-DR3, B8, A1 haplotype that normally carries a deletion of a ca. 30-kilobase unit including the CYP21A gene and C4A gene [5].
  • To characterize genetic events associated with B8 mouse astrocytoma formation, we employed comparative gene expression profiling of wild-type cultured mouse astrocytes, non-neoplastic B8 astrocytes, B8 astrocytoma cultures, and two other astrocytoma cultures from independently derived RAS transgenic mouse lines [2].
  • After the murine pre-B cell line 70Z/3 is transfected with DNA encoding human CD14 (hCD14), the resultant stably transfected cell line, 70Z/3-hCD14, responds to 1000-fold lower LPS concentrations than the parental CD14-negative line [6].
  • To resolve this controversy and to establish a mouse model suitable for elucidation of the functions of human CD14 (hCD14) in vivo, we generated several lines of transgenic mice bearing different copy numbers of the hCd14 transgene on a murine Cd14(-/-) background [7].
  • The oxidized subunit B8 from human complex I adopts a thioredoxin fold [8].

Biological context of NDUFA2

  • We have determined the 1.5 A crystal structure of this "public" TcR, revealing that five of the six hypervariable loops adopt novel conformations providing a unique combining site that contains a deep pocket predicted to overlay the HLA B8-peptide complex [9].
  • These results suggest that TPOFLK induces CD133+ HSPC proliferation, self-renewal and maintenance, up-regulation of HOX B3, B4 and A9 and down-regulation of HOX B8 and A10 gene expression [10].

Anatomical context of NDUFA2

  • Despite a potential repertoire of >10(15) alphabeta T cell receptors (TcR), the HLA B8-restricted cytolytic T cell response to a latent antigen of Epstein-Barr virus (EBV) is strikingly limited in the TcR sequences that are selected [9].
  • Suppressor cell activity, splenic function and HLA B8 status in man [11].

Analytical, diagnostic and therapeutic context of NDUFA2

  • No association between CD14 (C-260-->T) variant and plasma triglycerides or body mass index in non-diabetic Caucasians [12].
  • The CD 14 C (-159) T polymorphism was investigated using an allele specific PCR method [13].


  1. Transfer of cloned human class I major histocompatibility complex genes into HLA mutant human lymphoblastoid cells. Shimizu, Y., Koller, B., Geraghty, D., Orr, H., Shaw, S., Kavathas, P., DeMars, R. Mol. Cell. Biol. (1986) [Pubmed]
  2. Mouse glioma gene expression profiling identifies novel human glioma-associated genes. Gutmann, D.H., Huang, Z.Y., Hedrick, N.M., Ding, H., Guha, A., Watson, M.A. Ann. Neurol. (2002) [Pubmed]
  3. Effect of murine leukaemia virus age on its 8S RNA components. Robert-Robin, J., D'Auriol, L., Emanoil-Ravicovitch, R. J. Gen. Virol. (1976) [Pubmed]
  4. Bacterial expression and refolding of different fragments of human CD14. Majerle, A., Kidric, J., Jerala, R. Pflugers Arch. (2000) [Pubmed]
  5. Genesis by meiotic unequal crossover of a de novo deletion that contributes to steroid 21-hydroxylase deficiency. Sinnott, P., Collier, S., Costigan, C., Dyer, P.A., Harris, R., Strachan, T. Proc. Natl. Acad. Sci. U.S.A. (1990) [Pubmed]
  6. Endotoxin induces rapid protein tyrosine phosphorylation in 70Z/3 cells expressing CD14. Han, J., Lee, J.D., Tobias, P.S., Ulevitch, R.J. J. Biol. Chem. (1993) [Pubmed]
  7. Mice expressing high levels of soluble CD14 retain LPS in the circulation and are resistant to LPS-induced lethality. Jacque, B., Stephan, K., Smirnova, I., Kim, B., Gilling, D., Poltorak, A. Eur. J. Immunol. (2006) [Pubmed]
  8. The oxidized subunit B8 from human complex I adopts a thioredoxin fold. Brockmann, C., Diehl, A., Rehbein, K., Strauss, H., Schmieder, P., Korn, B., Kühne, R., Oschkinat, H. Structure (Camb.) (2004) [Pubmed]
  9. The 1.5 A crystal structure of a highly selected antiviral T cell receptor provides evidence for a structural basis of immunodominance. Kjer-Nielsen, L., Clements, C.S., Brooks, A.G., Purcell, A.W., McCluskey, J., Rossjohn, J. Structure (2002) [Pubmed]
  10. Thrombopoietin, flt3-ligand and c-kit-ligand modulate HOX gene expression in expanding cord blood CD133 cells. McGuckin, C.P., Forraz, N., Pettengell, R., Thompson, A. Cell Prolif. (2004) [Pubmed]
  11. Suppressor cell activity, splenic function and HLA B8 status in man. Robertson, D.A., Bullen, A., Field, H., Simpson, F.G., Losowsky, M.S. Journal of clinical & laboratory immunology. (1982) [Pubmed]
  12. No association between CD14 (C-260-->T) variant and plasma triglycerides or body mass index in non-diabetic Caucasians. Hubacek, J.A., Skodova, Z., Adamkova, V., Lanska, V., Vlasakova, Z. Diabet. Med. (2007) [Pubmed]
  13. Association of promoter polymorphism of the CD14 C (-159) T endotoxin receptor gene with chronic hepatitis B. Mohammad Alizadeh, A.H., Ranjbar, M., Hajilooi, M., Fallahian, F. World J. Gastroenterol. (2006) [Pubmed]
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