SHOX2

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.

Full Name

Short Stature Homeobox 2

Function

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.

Biological Process

Biological Process cardiac pacemaker cell differentiationISS:BHF-UCL
Biological Process cardiac right atrium morphogenesisISS:BHF-UCL
Biological Process cartilage development involved in endochondral bone morphogenesisIEA:Ensembl
Biological Process chondrocyte developmentIEA:Ensembl
Biological Process embryonic digestive tract morphogenesisIEA:Ensembl
Biological Process embryonic forelimb morphogenesisIEA:Ensembl
Biological Process embryonic skeletal joint morphogenesisIEA:Ensembl
Biological Process mesenchymal cell proliferationIEA:Ensembl
Biological Process muscle tissue morphogenesisIEA:Ensembl
Biological Process negative regulation of transcription by RNA polymerase IIISS:BHF-UCL
Biological Process nervous system developmentManual Assertion Based On ExperimentTAS:ProtInc
Biological Process osteoblast differentiationIEA:Ensembl
Biological Process positive regulation of axonogenesisIEA:Ensembl
Biological Process positive regulation of mesenchymal cell proliferationIEA:Ensembl
Biological Process positive regulation of skeletal muscle fiber developmentIEA:Ensembl
Biological Process positive regulation of smoothened signaling pathwayIEA:Ensembl
Biological Process positive regulation of stem cell proliferationIEA:Ensembl
Biological Process regulation of branching morphogenesis of a nerveIEA:Ensembl
Biological Process regulation of chondrocyte differentiationIEA:Ensembl
Biological Process regulation of heart rateISS:BHF-UCL
Biological Process regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIBA:GO_Central
Biological Process sinoatrial node cell developmentISS:BHF-UCL
Biological Process sinoatrial node developmentISS:BHF-UCL
Biological Process sinoatrial valve developmentISS:BHF-UCL
Biological Process skeletal system developmentManual Assertion Based On ExperimentTAS:ProtInc
Biological Process smoothened signaling pathwayIEA:Ensembl
Biological Process stem cell proliferationIEA:Ensembl

Cellular Location

Nucleus