Recombinant Human Short stature homeobox protein 2 (SHOX2)

Uniprot Id

O60902

Target Species

Human

Target Name

SHOX2

Target Full Name

Short stature homeobox protein 2

Target 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.

Target Subcellular Location

Nucleus.

Target Protein Families

Paired homeobox family, Bicoid subfamily

Target Tissue Specificity

Expressed in heart, skeletal muscle, liver, lung, bone marrow fibroblast, pancreas and placenta.

Target Synonyms

Homeobox protein Og12X; OG 12; OG 12X; OG12; OG12X; OGI 2X; OGI2X; Paired related homeobox protein SHOT; Paired-related homeobox protein SHOT; Short stature homeobox 2; Short stature homeobox homolog; Short stature homeobox protein 2; SHOT; SHOX 2; SHOX homologous gene on chromosome 3; SHOX2; SHOX2_HUMAN

Target Background

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.