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

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Gene Review: 

TSPEAR  -  thrombospondin-type laminin G domain and...

Homo sapiens

Synonyms: C21orf29, DFNB98, MGC11251, TSP-EAR, Thrombospondin-type laminin G domain and EAR repeat-containing protein
 
 
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High impact information on C21orf29

  • TRPM2 encodes a calcium channel receptor and TSPEAR encodes a peptide with repeats associated with epilepsy in the mouse [1].
  • A third nonconservative change from histidine to glutamic acid was found in exon 8 of TSPEAR [1].
  • Interestingly, all these KAP-related genes are located within introns of the recently identified gene TSPEAR (approved gene symbol C21orf29), 214 kb in size [2].
  • The TSPN-1 structure and identified adjacent linker region provide a structural framework for the analysis of the TSPN domain of various molecules, including TSPs, NELLs, many collagens, TSPEAR, and kielin [3].
 

Other interactions of C21orf29

  • Only two brain expressed genes, TRPM2 and C21ORF29 (TSPEAR), are present in the associated region [1].

References

  1. Fine mapping of a susceptibility locus for bipolar and genetically related unipolar affective disorders, to a region containing the C21ORF29 and TRPM2 genes on chromosome 21q22.3. McQuillin, A., Bass, N.J., Kalsi, G., Lawrence, J., Puri, V., Choudhury, K., Detera-Wadleigh, S.D., Curtis, D., Gurling, H.M. Mol. Psychiatry (2006) [Pubmed]
  2. A cluster of 21 keratin-associated protein genes within introns of another gene on human chromosome 21q22.3. Shibuya, K., Obayashi, I., Asakawa, S., Minoshima, S., Kudoh, J., Shimizu, N. Genomics (2004) [Pubmed]
  3. The structures of the thrombospondin-1 N-terminal domain and its complex with a synthetic pentameric heparin. Tan, K., Duquette, M., Liu, J.H., Zhang, R., Joachimiak, A., Wang, J.H., Lawler, J. Structure (2006) [Pubmed]
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