KEGG   Homo sapiens (human): 7080
Entry
7080              CDS       T01001                                 

Gene name
NKX2-1, BCH, BHC, NK-2, NKX2.1, NKX2A, NMTC1, T/EBP, TEBP, TITF1, TTF-1, TTF1
Definition
(RefSeq) NK2 homeobox 1
  KO
K09342  homeobox protein Nkx-2.1
Organism
hsa  Homo sapiens (human)
Disease
H00913  Brain-lung-thyroid syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03000 Transcription factors [BR:hsa03000]
    7080 (NKX2-1)
Transcription factors [BR:hsa03000]
 Eukaryotic type
  Helix-turn-helix
   Homeo domain only, NK-2
    7080 (NKX2-1)
SSDB
Motif
Pfam: Homeodomain SARAF Homeobox_KN
Other DBs
NCBI-GeneID: 7080
NCBI-ProteinID: NP_003308
OMIM: 600635
HGNC: 11825
Ensembl: ENSG00000136352
Vega: OTTHUMG00000140225
Pharos: P43699(Tbio)
UniProt: P43699
LinkDB
Position
14q13.3
AA seq 371 aa
MSMSPKHTTPFSVSDILSPLEESYKKVGMEGGGLGAPLAAYRQGQAAPPTAAMQQHAVGH
HGAVTAAYHMTAAGVPQLSHSAVGGYCNGNLGNMSELPPYQDTMRNSASGPGWYGANPDP
RFPAISRFMGPASGMNMSGMGGLGSLGDVSKNMAPLPSAPRRKRRVLFSQAQVYELERRF
KQQKYLSAPEREHLASMIHLTPTQVKIWFQNHRYKMKRQAKDKAAQQQLQQDSGGGGGGG
GTGCPQQQQAQQQSPRRVAVPVLVKDGKPCQAGAPAPGAASLQGHAQQQAQHQAQAAQAA
AAAISVGSGGAGLGAHPGHQPGSAGQSPDLAHHAASPAALQGQVSSLSHLNSSGSDYGTM
SCSTLLYGRTW
NT seq 1116 nt   +upstreamnt  +downstreamnt
atgtcgatgagtccaaagcacacgactccgttctcagtgtctgacatcttgagtcccctg
gaggaaagctacaagaaagtgggcatggagggcggcggcctcggggctccgctggcggcg
tacaggcagggccaggcggcaccgccaacagcggccatgcagcagcacgccgtggggcac
cacggcgccgtcaccgccgcctaccacatgacggcggcgggggtgccccagctctcgcac
tccgccgtggggggctactgcaacggcaacctgggcaacatgagcgagctgccgccgtac
caggacaccatgaggaacagcgcctctggccccggatggtacggcgccaacccagacccg
cgcttccccgccatctcccgcttcatgggcccggcgagcggcatgaacatgagcggcatg
ggcggcctgggctcgctgggggacgtgagcaagaacatggccccgctgccaagcgcgccg
cgcaggaagcgccgggtgctcttctcgcaggcgcaggtgtacgagctggagcgacgcttc
aagcaacagaagtacctgtcggcgccggagcgcgagcacctggccagcatgatccacctg
acgcccacgcaggtcaagatctggttccagaaccaccgctacaaaatgaagcgccaggcc
aaggacaaggcggcgcagcagcaactgcagcaggacagcggcggcggcgggggcggcggg
ggcaccgggtgcccgcagcagcaacaggctcagcagcagtcgccgcgacgcgtggcggtg
ccggtcctggtgaaagacggcaaaccgtgccaggcgggtgcccccgcgccgggcgccgcc
agcctacaaggccacgcgcagcagcaggcgcagcaccaggcgcaggccgcgcaggcggcg
gcagcggccatctccgtgggcagcggtggcgccggccttggcgcacacccgggccaccag
ccaggcagcgcaggccagtctccggacctggcgcaccacgccgccagccccgcggcgctg
cagggccaggtatccagcctgtcccacctgaactcctcgggctcggactacggcaccatg
tcctgctccaccttgctatacggtcggacctggtga

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