Aliases for NKX3-2 Gene
External Ids for NKX3-2 Gene
Previous HGNC Symbols for NKX3-2 Gene
Previous GeneCards Identifiers for NKX3-2 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]
GeneCards Summary for NKX3-2 Gene
NKX3-2 (NK3 Homeobox 2) is a Protein Coding gene. Diseases associated with NKX3-2 include Spondylo-Megaepiphyseal-Metaphyseal Dysplasia and Metaphyseal Dysplasia. Among its related pathways are Endochondral Ossification. Gene Ontology (GO) annotations related to this gene include RNA polymerase II proximal promoter sequence-specific DNA binding and proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific. An important paralog of this gene is NKX2-3.
UniProtKB/Swiss-Prot Summary for NKX3-2 Gene
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).