Aliases for NKX2-2 Gene
External Ids for NKX2-2 Gene
Previous HGNC Symbols for NKX2-2 Gene
Previous GeneCards Identifiers for NKX2-2 Gene
The protein encoded by this gene contains a homeobox domain and may be involved in the morphogenesis of the central nervous system. This gene is found on chromosome 20 near NKX2-4, and these two genes appear to be duplicated on chromosome 14 in the form of TITF1 and NKX2-8. The encoded protein is likely to be a nuclear transcription factor. [provided by RefSeq, Jul 2008]
GeneCards Summary for NKX2-2 Gene
NKX2-2 (NK2 Homeobox 2) is a Protein Coding gene. Diseases associated with NKX2-2 include Maturity-Onset Diabetes Of The Young and Partington Syndrome. Among its related pathways are Regulation of beta-cell development and Neural Stem Cell Differentiation Pathways and Lineage-specific Markers. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and chromatin binding. An important paralog of this gene is NKX2-8.
UniProtKB/Swiss-Prot for NKX2-2 Gene
Acts as a transcriptional activator. Required for the maintenance of NEUROD1 expression in the horomone-producing endocrine cells of the pancreas. May be involved in specifying diencephalic neuromeric boundaries, and in controlling the expression of genes that play a role in axonal guidance. Associates with chromatin at the NEUROD1 promoter region. Binds to a subset of consensus elements within the NEUROD1 promoter (By similarity).