SHOX2, Official Symbol SHOX2provided by HGNC Official Full Name SHOX homeobox 2provided by HGNC Primary source HGNC:HGNC:10854 See related Ensembl:ENSG00000168779 MIM:602504; AllianceGenome:HGNC:10854 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as OG12; SHOT; OG12X Summary 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] Expression Biased expression in fat (RPKM 3.0), lymph node (RPKM 1.2) and 4 other tissues See more Orthologs mouse all