| General information | Literature | Expression | Regulation | Mutation | Homolog | Interaction |
Basic Information | |
|---|---|
Gene ID | 7080 |
Name | NKX2-1 |
Synonym | BCH|BHC|NK-2|NKX2.1|NKX2A|T/EBP|TEBP|TITF1|TTF-1|TTF1;NK2 homeobox 1;NKX2-1;NK2 homeobox 1 |
Definition | NK-2 homolog A|homeobox protein NK-2 homolog A|homeobox protein Nkx-2.1|thyroid nuclear factor 1|thyroid transcription factor 1|thyroid-specific enhancer-binding protein |
Position | 14q13 |
Gene Type | protein-coding |
Pathways and Diseases | |
Pathway | FOXA2 and FOXA3 transcription factor networks;PID Curated;200073 |
Disease | Height;NHGRI |
Disease | Mental retardation;FunDO |
Disease | Choreoathetosis, hypothyroidism, and neonatal respiratory distress;OMIM |
Disease | Goiter, familial, due to TTF-1 defect;OMIM |
Disease | Thyroid gland disease;FunDO |
Disease | Thyroid cancer;NHGRI |
Disease | thyroid cancer;GAD |
Disease | CANCER;GAD |
Disease | Cancer;FunDO |
Disease | DEVELOPMENTAL;GAD |
Disease | height;GAD |
Disease | Chorea, hereditary benign;OMIM |
External Links | |
Links to Entrez Gene | 7080 |
Links to all GeneRIF Items | 7080 |
Links to iHOP | 7080 |
Sequence Information | |
Nucleotide Sequence | >7080 : length: 2352 GAAACTTAAAGGTGTTTACCTTGTCATCAGCATGTAAGCTAATTATCTCGGGCAAGATGT AGGCTTCTATTGTCTTGTTGCTTTAGCGCTTACGCCCCGCCTCTGGTGGCTGCCTAAAAC CTGGCGCCGGGCTAAAACAAACGCGAGGCAGCCCCCGAGCCTCCACTCAAGCCAATTAAG GAGGACTCGGTCCACTCCGTTACGTGTACATCCAACAAGATCGGCGTTAAGGTAACACCA GAATATTTGGCAAAGGGAGAAAAAAAAAGCAGCGAGGCTTCGCCTTCCCCCTCTCCCTTT TTTTTCCTCCTCTTCCTTCCTCCTCCAGCCGCCGCCGAATCATGTCGATGAGTCCAAAGC ACACGACTCCGTTCTCAGTGTCTGACATCTTGAGTCCCCTGGAGGAAAGCTACAAGAAAG TGGGCATGGAGGGCGGCGGCCTCGGGGCTCCGCTGGCGGCGTACAGGCAGGGCCAGGCGG CACCGCCAACAGCGGCCATGCAGCAGCACGCCGTGGGGCACCACGGCGCCGTCACCGCCG CCTACCACATGACGGCGGCGGGGGTGCCCCAGCTCTCGCACTCCGCCGTGGGGGGCTACT GCAACGGCAACCTGGGCAACATGAGCGAGCTGCCGCCGTACCAGGACACCATGAGGAACA GCGCCTCTGGCCCCGGATGGTACGGCGCCAACCCAGACCCGCGCTTCCCCGCCATCTCCC GCTTCATGGGCCCGGCGAGCGGCATGAACATGAGCGGCATGGGCGGCCTGGGCTCGCTGG GGGACGTGAGCAAGAACATGGCCCCGCTGCCAAGCGCGCCGCGCAGGAAGCGCCGGGTGC TCTTCTCGCAGGCGCAGGTGTACGAGCTGGAGCGACGCTTCAAGCAACAGAAGTACCTGT CGGCGCCGGAGCGCGAGCACCTGGCCAGCATGATCCACCTGACGCCCACGCAGGTCAAGA TCTGGTTCCAGAACCACCGCTACAAAATGAAGCGCCAGGCCAAGGACAAGGCGGCGCAGC AGCAACTGCAGCAGGACAGCGGCGGCGGCGGGGGCGGCGGGGGCACCGGGTGCCCGCAGC AGCAACAGGCTCAGCAGCAGTCGCCGCGACGCGTGGCGGTGCCGGTCCTGGTGAAAGACG GCAAACCGTGCCAGGCGGGTGCCCCCGCGCCGGGCGCCGCCAGCCTACAAGGCCACGCGC AGCAGCAGGCGCAGCACCAGGCGCAGGCCGCGCAGGCGGCGGCAGCGGCCATCTCCGTGG GCAGCGGTGGCGCCGGCCTTGGCGCACACCCGGGCCACCAGCCAGGCAGCGCAGGCCAGT CTCCGGACCTGGCGCACCACGCCGCCAGCCCCGCGGCGCTGCAGGGCCAGGTATCCAGCC TGTCCCACCTGAACTCCTCGGGCTCGGACTACGGCACCATGTCCTGCTCCACCTTGCTAT ACGGTCGGACCTGGTGAGAGGACGCCGGGCCGGCCCTAGCCCAGCGCTCTGCCTCACCGC TTCCCTCCTGCCCGCCACACAGACCACCATCCACCGCTGCTCCACGCGCTTCGACTTTTC TTAACAACCTGGCCGCGTTTAGACCAAGGAACAAAAAAACCACAAAGGCCAAACTGCTGG ACGTCTTTCTTTTTTTCCCCCCCTAAAATTTGTGGGTTTTTTTTTTTAAAAAAAGAAAAT GAAAAACAACCAAGCGCATCCAATCTCAAGGAATCTTTAAGCAGAGAAGGGCATAAAACA GCTTTGGGGTGTCTTTTTTTGGTGATTCAAATGGGTTTTCCACGCTAGGGCGGGGCACAG ATTGGAGAGGGCTCTGTGCTGACATGGCTCTGGACTCTAAAGACCAAACTTCACTCTGGG CACACTCTGCCAGCAAAGAGGACTCGCTTGTAAATACCAGGATTTTTTTTTTTTTTTGAA GGGAGGACGGGAGCTGGGGAGAGGAAAGAGTCTTCAACATAACCCACTTGTCACTGACAC AAAGGAAGTGCCCCCTCCCCGGCACCCTCTGGCCGCCTAGGCTCAGCGGCGACCGCCCTC CGCGAAAATAGTTTGTTTAATGTGAACTTGTAGCTGTAAAACGCTGTCAAAAGTTGGACT AAATGCCTAGTTTTTAGTAATCTGTACATTTTGTTGTAAAAAGAAAAACCACTCCCAGTC CCCAGCCCTTCACATTTTTTATGGGCATTGACAAATCTGTGTATATTATTTGGCAGTTTG GTATTTGCGGCGTCAGTCTTTTTCTGTTGTAACTTATGTAGATATTTGGCTTAAATATAG TTCCTAAGAAGCTTCTAATAAATTATACAAATTAAAAAGATTCTTTTTCTGATTAAAAAA AAAAAAAAAAAA |
Protein Sequence | >7080 : length: 401 MWSGGSGKARGWEAAAGGRSSPGRLSRRRIMSMSPKHTTPFSVSDILSPLEESYKKVGME GGGLGAPLAAYRQGQAAPPTAAMQQHAVGHHGAVTAAYHMTAAGVPQLSHSAVGGYCNGN LGNMSELPPYQDTMRNSASGPGWYGANPDPRFPAISRFMGPASGMNMSGMGGLGSLGDVS KNMAPLPSAPRRKRRVLFSQAQVYELERRFKQQKYLSAPEREHLASMIHLTPTQVKIWFQ NHRYKMKRQAKDKAAQQQLQQDSGGGGGGGGTGCPQQQQAQQQSPRRVAVPVLVKDGKPC QAGAPAPGAASLQGHAQQQAQHQAQAAQAAAAAISVGSGGAGLGAHPGHQPGSAGQSPDL AHHAASPAALQGQVSSLSHLNSSGSDYGTMSCSTLLYGRTW |