SHOX2 is a member of the homeobox family of genes that encode proteins containing a 60-amino acid residue motif that represents a DNA-binding domain. Homeobox proteins have been characterized extensively as transcriptional regulators involved in pattern formation in both invertebrate and vertebrate species.
Several human genetic disorders are caused by aberrations in human homeobox genes. This locus represents a pseudoautosomal homeobox gene that is thought to be responsible for idiopathic short stature, and it is implicated in the short stature phenotype of Turner syndrome patients. This gene is considered to be a candidate gene for Cornelia de Lange Syndrome.
SHOX2 localises on chromosome 3, so it is an autosomal and not a pseudoautosomal homeobox (SHOX, which localises on the PAR1 region of chromosome X and Y, has a pseudoautosomal hereditability).
^Semina EV, Reiter RS, Murray JC (March 1998). "A new human homeobox gene OGI2X is a member of the most conserved homeobox gene family and is expressed during heart development in mouse". Hum. Mol. Genet.7 (3): 415–22. doi:10.1093/hmg/7.3.415. PMID9466998.
De Baere E, Speleman F, Van Roy N et al. (1998). "Assignment of SHOX2 (alias OG12X and SHOT) to human chromosome bands 3q25-->q26.1 by in situ hybridization.". Cytogenet. Cell Genet.82 (3-4): 228–9. doi:10.1159/000015108. PMID9858825.CS1 maint: Explicit use of et al. (link)
Ota T, Suzuki Y, Nishikawa T et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet.36 (1): 40–5. doi:10.1038/ng1285. PMID14702039.CS1 maint: Explicit use of et al. (link)
Zhou W, Chen H, Zhang L (2009). "The PcG protein hPc2 interacts with the N-terminus of histone demethylase JARID1B and acts as a transcriptional co-repressor.". BMB Rep42 (3): 154–9. doi:10.5483/bmbrep.2009.42.3.154. PMID19336002.