short stature homeobox protein 2; homeobox protein Og12X; paired-related homeobox protein SHOT (SHOX2 OG12X SHOT)

Function

• may be a growth regulator & have a role in specifying neural systems involved in processing somatosensory information, as well as in face & body structure formation

Structure

• belongs to the paired homeobox family, Bicoid subfamily
• contains 1 homeobox DNA-binding domain

Compartment

nucleus

Alternative splicing

• named isoforms=3
• at least one isoform may be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay

Expression

• expressed in heart, skeletal muscle, liver, lung, bone marrow fibroblasts, pancreas & placenta
• expressed during cranofacial development as well as in heart

More general terms

• homeobox protein

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=6474
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:6474
• OMIM: https://mirror.omim.org/entry/602504
• UniProt: http://www.uniprot.org/uniprot/O60902.html