NKX2-1
Summary: This gene encodes a protein initially identified as a thyroid-specific transcription factor. The encoded protein binds to the thyroglobulin promoter and regulates the expression of thyroid-specific genes but has also been shown to regulate the expression of genes involved in morphogenesis. Mutations and deletions in this gene are associated with benign hereditary chorea, choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress, and may be associated with thyroid cancer. Multiple transcript variants encoding different isoforms have been found for this gene. This gene shares the symbol/alias 'TTF1' with another gene, transcription termination factor 1, which plays a role in ribosomal gene transcription. [provided by RefSeq, Feb 2014].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
NameNK2 homeobox 1 OMIM IDMIM:600635 Ensembl IDEnsembl:ENSG00000136352 HGNC IDHGNC:HGNC:11825 PHARMGKB IDPA36531 Map Location14q13.3 | |||||
GO terms in NKX2-1
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IDA | GO:0000977 | RNA polymerase II regulatory region sequence-specific DNA binding |
| MF | ISS | GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding |
| MF | ISS | GO:0000980 | RNA polymerase II distal enhancer sequence-specific DNA binding |
| MF | ISA | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | ISM | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | NAS | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
Gene expression in normal tissue: NKX2-1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in NKX2-1
Database | Pathway ID | Pathway Des. |
|---|---|---|
| pid | hnf3bpathway | FOXA2 and FOXA3 transcription factor networks |
| wikipathways | WP2853 | Endoderm Differentiation |
| wikipathways | WP3527 | Preimplantation Embryo |
| wikipathways | WP3674 | Tgif disruption of Shh signaling |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in NKX2-1
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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