homeobox protein Nkx-3.2; Bagpipe homeobox protein homolog 1; homeobox protein NK-3 homolog B (NKX3-2, BAPX1, NKX3B)

Function

• transcriptional repressor
• acts as a negative regulator of chondrocyte maturation
• role in distal stomach development
  • required for proper antral-pyloric morphogenesis & development of antral-type epithelium
• in concert with GSC, defines the structural components of the middle ear
  • required for tympanic ring & gonium development & in the regulation of the width of the malleus (putative)

Structure

• belongs to the NK-3 homeobox family
• contains 1 homeobox DNA-binding domain

Compartment

nucleus (probable)

Expression

• expressed at highest levels in cartilage, bone (osteosarcoma) & gut (small intestine & colon)
• moderate expression is seen in trachea & brain
• expressed in visceral mesoderm & embryonic skeleton

Pathology

• defects in NKX3-2 are the cause of spondylo-megaepiphyseal-metaphyseal dysplasia

More general terms

• homeobox protein
• transcriptional silencer (transcriptional repressor)

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=579
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:579
• OMIM: https://mirror.omim.org/entry/602183
• OMIM: https://mirror.omim.org/entry/613330
• UniProt: http://www.uniprot.org/uniprot/P78367.html