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Gene Review

Gsc2  -  goosecoid homebox 2

Mus musculus

Synonyms: 4930568H22Rik, GSC-2, GSC-L, Gscl, Homeobox protein goosecoid-2, ...
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Disease relevance of Gscl


High impact information on Gscl


Biological context of Gscl

  • Gscl, a paired-type homeobox gene, has been implicated in the pathology of DGS/VCFS by virtue of its genomic location and its structural similarity to the Gsc gene family [3].
  • Gscl encodes a Goosecoid-related homeodomain protein that is expressed during mouse embryogenesis [2].
  • Gscl is located within a region of the mouse genome that is syntenic with the region commonly deleted in DiGeorge and velocardiofacial syndrome (DGS/VCFS) patients [2].

Anatomical context of Gscl

  • Gscl, a gene within the minimal DiGeorge critical region, is expressed in primordial germ cells and the developing pons [3].
  • Gscl expression is also detected in a subset of adult tissues, including brain, eye, thymus, thyroid region, stomach, bladder and testis [2].
  • Interestingly, expression of the adjacent Es2 gene in the pons region of Gscl null fetuses was absent, suggesting that mutations within the DGS/VCFS region can influence expression of adjacent genes [2].

Associations of Gscl with chemical compounds


  1. Goosecoid-like (Gscl), a candidate gene for velocardiofacial syndrome, is not essential for normal mouse development. Saint-Jore, B., Puech, A., Heyer, J., Lin, Q., Raine, C., Kucherlapati, R., Skoultchi, A.I. Hum. Mol. Genet. (1998) [Pubmed]
  2. Functional analysis of Gscl in the pathogenesis of the DiGeorge and velocardiofacial syndromes. Wakamiya, M., Lindsay, E.A., Rivera-Pérez, J.A., Baldini, A., Behringer, R.R. Hum. Mol. Genet. (1998) [Pubmed]
  3. Gscl, a gene within the minimal DiGeorge critical region, is expressed in primordial germ cells and the developing pons. Galili, N., Epstein, J.A., Leconte, I., Nayak, S., Buck, C.A. Dev. Dyn. (1998) [Pubmed]
  4. A region of mouse chromosome 16 is syntenic to the DiGeorge, velocardiofacial syndrome minimal critical region. Galili, N., Baldwin, H.S., Lund, J., Reeves, R., Gong, W., Wang, Z., Roe, B.A., Emanuel, B.S., Nayak, S., Mickanin, C., Budarf, M.L., Buck, C.A. Genome Res. (1997) [Pubmed]
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