KEGG   Homo sapiens (human): 1482Help
Entry
1482              CDS       T01001                                 

Gene name
NKX2-5, CHNG5, CSX, CSX1, HLHS2, NKX2.5, NKX2E, NKX4-1, VSD3
Definition
NK2 homeobox 5
Orthology
K09345  
homeobox protein Nkx-2.5
Organism
hsa  Homo sapiens (human)
Disease
H00250  
Congenital nongoitrous hypothyroidism (CHNG)
H00546  
Atrial septal defect
H00549  
Tetralogy of Fallot
H01272  
Hypoplastic left heart syndrome (HLHS)
Brite
Transcription factors [BR:hsa03000]
 Eukaryotic Type
  Helix-turn-helix
   Homeo domain only, NK-2
    1482 (NKX2-5)
BRITE hierarchy
SSDB OrthologParalogGFIT
Other DBs
NCBI-GI: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
UniProt: 
Position
5q34
AA seq 112 aa AA seqDB search
MFPSPALTPTPFSVKDILNLEQQQRSLAAAGELSARLEATLAPSSCMLAAFKPEAYAGPE
AAAPGLPELRAELGRAPSPAKCASAFPAAPAFYPRAYSDPDPAKDPRAEKKA
NT seq 339 nt NT seq  +upstreamnt  +downstreamnt
atgttccccagccctgctctcacgcccacgcccttctcagtcaaagacatcctaaacctg
gaacagcagcagcgcagcctggctgccgccggagagctctctgcccgcctggaggcgacc
ctggcgccctcctcctgcatgctggccgccttcaagccagaggcctacgctgggcccgag
gcggctgcgccgggcctcccagagctgcgcgcagagctgggccgcgcgccttcaccggcc
aagtgtgcgtctgcctttcccgccgcccccgccttctatccacgtgcctacagcgacccc
gacccagccaaggaccctagagccgaaaagaaagcctga

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