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HERC2  -  HECT and RLD domain containing E3...

Homo sapiens

Synonyms: D15F37S1, E3 ubiquitin-protein ligase HERC2, HECT domain and RCC1-like domain-containing protein 2, MRT38, SHEP1, ...
 
 
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High impact information on HERC2

  • Combined, these findings suggest that HERC2 is an important gene encoding a GEF involved in protein trafficking and degradation pathways in the cell [1].
  • To further understand the developmental role of HERC2, a highly conserved Drosophila ortholog was characterized, with 70% amino acid sequence identity to human HERC2 over the carboxy-terminal 743 residues [2].
  • HERC2-containing (HEct domain and RCc1 domain protein 2) segmental duplications or duplicons are present at two of these breakpoints (BP2 and BP3) mainly associated with deletions [3].
  • The expression of the HERC2 and heat-shock 70 genes, as measured by real-time PCR, were not significantly altered in the schizophrenia hippocampus [4].
  • To identify genes associated with schizophrenia, DNA microarray chips were used to compare schizophrenia and control hippocampus tissues, revealing four genes with elevated expression, chondrex (or YKL-40), histamine-releasing factor, HERC2, and heat-shock 70 [4].
 

Biological context of HERC2

  • These BACs also hybridize to the 15q11-q13 region in close proximity to SNRPN and HERC2, and in this region there is equal intensity of signal on the normal and on the deleted chromosome [5].
 

Other interactions of HERC2

  • We have also found regions homologous to cytochrome b5 in the mammalian HERC2 ubiquitin transferase proteins and a number of fungal chitin synthases [6].

References

  1. The ancestral gene for transcribed, low-copy repeats in the Prader-Willi/Angelman region encodes a large protein implicated in protein trafficking, which is deficient in mice with neuromuscular and spermiogenic abnormalities. Ji, Y., Walkowicz, M.J., Buiting, K., Johnson, D.K., Tarvin, R.E., Rinchik, E.M., Horsthemke, B., Stubbs, L., Nicholls, R.D. Hum. Mol. Genet. (1999) [Pubmed]
  2. Structure of the highly conserved HERC2 gene and of multiple partially duplicated paralogs in human. Ji, Y., Rebert, N.A., Joslin, J.M., Higgins, M.J., Schultz, R.A., Nicholls, R.D. Genome Res. (2000) [Pubmed]
  3. Human chromosome 15q11-q14 regions of rearrangements contain clusters of LCR15 duplicons. Pujana, M.A., Nadal, M., Guitart, M., Armengol, L., Gratacòs, M., Estivill, X. Eur. J. Hum. Genet. (2002) [Pubmed]
  4. Schizophrenia hippocampus has elevated expression of chondrex glycoprotein gene. Chung, C., Tallerico, T., Seeman, P. Synapse (2003) [Pubmed]
  5. Analysis of a 1-megabase deletion in 15q22-q23 in an autistic patient: identification of candidate genes for autism and of homologous DNA segments in 15q22-q23 and 15q11-q13. Smith, M., Filipek, P.A., Wu, C., Bocian, M., Hakim, S., Modahl, C., Spence, M.A. Am. J. Med. Genet. (2000) [Pubmed]
  6. Membrane-bound progesterone receptors contain a cytochrome b5-like ligand-binding domain. Mifsud, W., Bateman, A. Genome Biol. (2002) [Pubmed]
 
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