SHOX2, short stature homeobox 2

SHOX2, short stature homeobox 2

• 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]

• Gene Synonyms (short stature homeobox protein 2, SHOX homologous gene on chromosome 3, homeobox protein Og12X, paired-related homeobox protein SHOT, OG12, OG12X, SHOT,)
• NCBI Gene ID: 6474
• Species: Homo sapiens (Human)
• UNIPROT ID#>>A6NLG4
  UNIPROT ID#>>O60902
• View the NCBI Database for this Gene »

Gene products are often involved in multiple pathways and networks within a living cell. Learn more about other interacting partners.

short stature homeobox 2 interacts with:

• lysine demethylase 5B
  neuron navigator 2
  tripartite motif containing 29
  zinc finger DHHC-type palmitoyltransferase 17

Paste a protein or nucleic acid sequence in the box below to confirm that it matches this gene’s reference sequence(s). Click on a link under RELATED ORF CLONES to see how a sequence matches to an experimentally-validated ORF clone.