Gene:
short stature homeobox 2
Gene ID:
193340
Symbol:
SHOX2
Species:
1000
Description:
SHOX2 is a member of the homeo box family of genes that encode proteins containing a 60-amino acid residue motif that represents a DNA binding domain. Homeo box genes 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 homeo box genes. SHOX is a pseudoautosomal homeo box gene that is thought to be responsible for idiopathic short stature and implicated to play a role in the short stature phenotype of Turner syndrome patients. SHOX2 (also called SHOT for SHOX homologous gene on chromosome 3) has two alternatively spliced transcript variants, SHOX2a and SHOX2b, that have identical homeodomains and share a C-terminal 14-amino acid residue motif characteristic for craniofacially expressed homeodomain proteins. The differences between SHOX2a and SHOX2b reside within the N-termini and an alternatively spliced exon in the C termini. SHOX2 maps to 3q25-q26.1 and is considered to be a candidate gene for Cornelia de Lange syndrome.