NKX3-2 gene

NK3 homeobox 2

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a member of the NK family of homeobox-containing proteins. The encoded protein may play a role in skeletal development. [provided by RefSeq, Jul 2008]

From UniProt:

Transcriptional repressor that acts as a negative regulator of chondrocyte maturation. PLays a role in distal stomach development; required for proper antral-pyloric morphogenesis and development of antral-type epithelium. In concert with GSC, defines the structural components of the middle ear; required for tympanic ring and gonium development and in the regulation of the width of the malleus.

From NCBI Gene:

  • Spondylo-megaepiphyseal-metaphyseal dysplasia

From UniProt:

Spondylo-megaepiphyseal-metaphyseal dysplasia (SMMD): A skeletal dysplasia characterized by disproportionate short stature with a short and stiff neck and trunk, relatively long limbs that may show flexion contractures of the distal joints, delayed and impaired ossification of the vertebral bodies, the presence of large epiphyseal ossification centers and wide growth plates in the long tubular bones, and numerous pseudoepiphyses of the short tubular bones in hands and feet. [MIM:613330]

Cytogenetic Location: 4p15.33, which is the short (p) arm of chromosome 4 at position 15.33

Molecular Location: base pairs 13,540,830 to 13,544,490 on chromosome 4 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 4p15.33, which is the short (p) arm of chromosome 4 at position 15.33
  • BAPX1
  • NKX3.2
  • NKX3B
  • SMMD