Aliases for SHOX2 Gene
External Ids for SHOX2 Gene
This gene 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 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 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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009]
GeneCards Summary for SHOX2 Gene
SHOX2 (Short Stature Homeobox 2) is a Protein Coding gene. Diseases associated with SHOX2 include hard palate cancer and cornelia de lange syndrome. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and transcription regulatory region sequence-specific DNA binding. An important paralog of this gene is PHOX2B.
UniProtKB/Swiss-Prot for SHOX2 Gene
May be a growth regulator and have a role in specifying neural systems involved in processing somatosensory information, as well as in face and body structure formation