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

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Gene Review: 

DIP2B  -  DIP2 disco-interacting protein 2 homolog B...

Homo sapiens

Synonyms: DIP2 homolog B, Disco-interacting protein 2 homolog B, FLJ34278, KIAA1463
 
 
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Disease relevance of DIP2B

  • Interestingly, a carrier of an unmethylated CGG-repeat expansion showed increased levels of DIP2B mRNA, which suggests that the repeat elongation increases gene expression, as previously described for the fragile X-associated tremor/ataxia syndrome [1].
 

Psychiatry related information on DIP2B

  • In two individuals without mental retardation but with an expanded and methylated repeat, DIP2B expression was reduced to approximately two-thirds of the values observed in controls [1].
 

High impact information on DIP2B

  • CGG-Repeat Expansion in the DIP2B Gene Is Associated with the Fragile Site FRA12A on Chromosome 12q13.1 [1].
  • This repeat is in the 5' untranslated region of the gene DIP2B, which encodes a protein with a DMAP1-binding domain, which suggests a role in DNA methylation machinery [1].
  • These data suggest that deficiency of DIP2B, a brain-expressed gene, may mediate the neurocognitive problems associated with FRA12A [1].
  • A novel cDNA was cloned from human endometrium, matching a human gene with the interim name KIAA1463 [2].

References

  1. CGG-Repeat Expansion in the DIP2B Gene Is Associated with the Fragile Site FRA12A on Chromosome 12q13.1. Winnepenninckx, B., Debacker, K., Ramsay, J., Smeets, D., Smits, A., Fitzpatrick, D.R., Kooy, R.F. Am. J. Hum. Genet. (2007) [Pubmed]
  2. Identification and characterization of a novel luciferase-like protein in the human female reproductive tract. Khorram, O., Garthwaite, M., Johnson, M.S., Denessiouk, K.A., Han, G., Guo, T., McPhaul, L.W., Magee, T.R., Westerman, B., Golos, T.G. J. Clin. Endocrinol. Metab. (2004) [Pubmed]
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