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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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AKAP2  -  A kinase (PRKA) anchor protein 2

Homo sapiens

Synonyms: A-kinase anchor protein 2, AKAP-2, AKAP-KL, AKAPKL, DKFZp564L0716, ...
 
 
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High impact information on AKAP2

  • It is expressed from a gene on human chromosome 9q31-q33 which ends only 33 kb upstream of the gene encoding the protein kinase A-binding protein,AKAP2/AKAP-KL [1].
  • Our findings suggest that the complex phenotype with Kallmann syndrome and bone anomalies observed in our patient could be the result of the interruption of the AKAP2 gene [2].
  • Since AKAP2 is supposed to bind and compartmentalize the PKA, we also analyzed the distribution and quantity of PKA in limphoblastoid cell lines of the patient compared with a control; these experiments did not demonstrate any differences between the cell lines [2].
  • We report the molecular characterization of a patient with Kallmann syndrome and bone anomalies bearing a balanced de novo translocation t(7;9)(p14.1;q31.3) which completely disrupts the A-kinase anchor protein 2 gene (AKAP2) on chromosome 9 [2].
  • Experiments used heterologous expression with AKAP15, AKAP-KL, and AKAP79 in Xenopus oocytes [3].

References

  1. The paralemmin protein family: identification of paralemmin-2, an isoform differentially spliced to AKAP2/AKAP-KL, and of palmdelphin, a more distant cytosolic relative. Hu, B., Copeland, N.G., Gilbert, D.J., Jenkins, N.A., Kilimann, M.W. Biochem. Biophys. Res. Commun. (2001) [Pubmed]
  2. The breakpoint identified in a balanced de novo translocation t(7;9)(p14.1;q31.3) disrupts the A-kinase (PRKA) anchor protein 2 gene (AKAP2) on chromosome 9 in a patient with Kallmann syndrome and bone anomalies. Panza, E., Gimelli, G., Passalacqua, M., Cohen, A., Gimelli, S., Giglio, S., Ghezzi, C., Sparatore, B., Heye, B., Zuffardi, O., Rugarli, E., Meitinger, T., Romeo, G., Ravazzolo, R., Seri, M. Int. J. Mol. Med. (2007) [Pubmed]
  3. The A-kinase anchoring protein 15 regulates feedback inhibition of the epithelial Na+ channel. Bengrine, A., Li, J., Awayda, M.S. FASEB J. (2007) [Pubmed]
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