NKX3-2

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]

Full Name

NK3 Homeobox 2

Function

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 (By similarity).

Biological Process

Animal organ formationIEA:Ensembl
Cell differentiationManual Assertion Based On ExperimentIBA:GO_Central
Determination of left/right symmetryIEA:Ensembl
Embryonic skeletal system developmentIEA:Ensembl
Intestinal epithelial cell developmentIEA:Ensembl
Middle ear morphogenesisIEA:Ensembl
Negative regulation of apoptotic processIEA:Ensembl
Negative regulation of chondrocyte differentiationISS:UniProtKB
Pancreas developmentIEA:Ensembl
Regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIBA:GO_Central
Skeletal system developmentManual Assertion Based On ExperimentTAS:ProtInc
Skeletal system morphogenesisIEA:Ensembl
Spleen developmentIEA:Ensembl
Transcription by RNA polymerase IIManual Assertion Based On ExperimentTAS:ProtInc

Cellular Location

Nucleus

Involvement in disease

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.