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

Gene name
NKX2-5, CHNG5, CSX, CSX1, HLHS2, NKX2.5, NKX2E, NKX4-1, VSD3
Definition
(RefSeq) NK2 homeobox 5
  KO
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)
H01926  
Ventricular septal defect (VSD)
Brite
Transcription factors [BR:hsa03000]
 Eukaryotic Type
  Helix-turn-helix
   Homeo domain only, NK-2
    1482 (NKX2-5)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-GeneID: 
NCBI-ProteinID: 
OMIM: 
HGNC: 
Ensembl: 
Vega: 
Pharos: 
P52952(Tbio)
UniProt: 
Structure
PDB: 

Jmol
Position
5q35.1
AA seq 324 aa AA seqDB search
MFPSPALTPTPFSVKDILNLEQQQRSLAAAGELSARLEATLAPSSCMLAAFKPEAYAGPE
AAAPGLPELRAELGRAPSPAKCASAFPAAPAFYPRAYSDPDPAKDPRAEKKELCALQKAV
ELEKTEADNAERPRARRRRKPRVLFSQAQVYELERRFKQQRYLSAPERDQLASVLKLTST
QVKIWFQNRRYKCKRQRQDQTLELVGLPPPPPPPARRIAVPVLVRDGKPCLGDSAPYAPA
YGVGLNPYGYNAYPAYPGYGGAACSPGYSCTAAYPAGPSPAQPATAAANNNFVNFGVGDL
NAVQSPGIPQSNSGVSTLHGIRAW
NT seq 975 nt NT seq  +upstreamnt  +downstreamnt
atgttccccagccctgctctcacgcccacgcccttctcagtcaaagacatcctaaacctg
gaacagcagcagcgcagcctggctgccgccggagagctctctgcccgcctggaggcgacc
ctggcgccctcctcctgcatgctggccgccttcaagccagaggcctacgctgggcccgag
gcggctgcgccgggcctcccagagctgcgcgcagagctgggccgcgcgccttcaccggcc
aagtgtgcgtctgcctttcccgccgcccccgccttctatccacgtgcctacagcgacccc
gacccagccaaggaccctagagccgaaaagaaagagctgtgcgcgctgcagaaggcggtg
gagctggagaagacagaggcggacaacgcggagcggccccgggcgcgacggcggaggaag
ccgcgcgtgctcttctcgcaggcgcaggtctatgagctggagcggcgcttcaagcagcag
cggtacctgtcggcccccgaacgcgaccagctggccagcgtgctgaaactcacgtccacg
caggtcaagatctggttccagaaccggcgctacaagtgcaagcggcagcggcaggaccag
actctggagctggtggggctgcccccgccgccgccgccgcctgcccgcaggatcgcggtg
ccagtgctggtgcgcgatggcaagccatgcctaggggactcggcgccctacgcgcctgcc
tacggcgtgggcctcaatccctacggttataacgcctaccccgcctatccgggttacggc
ggcgcggcctgcagccctggctacagctgcactgccgcttaccccgccgggccttcccca
gcgcagccggccactgccgccgccaacaacaacttcgtgaacttcggcgtcggggacttg
aatgcggttcagagccccgggattccgcagagcaactcgggagtgtccacgctgcatggt
atccgagcctggtag

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