KEGG   Homo sapiens (human): 1482
Entry
1482              CDS       T01001                                 
Symbol
NKX2-5, CHNG5, CSX, CSX1, HLHS2, NKX2.5, NKX2E, NKX4-1, VSD3
Name
(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
H00918  Double-outlet right ventricle
H01272  Hypoplastic left heart syndrome
H01926  Ventricular septal defect
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03000 Transcription factors [BR:hsa03000]
    1482 (NKX2-5)
Transcription factors [BR:hsa03000]
 Eukaryotic type
  Helix-turn-helix
   Homeo domain ANTP: NKL
    1482 (NKX2-5)
SSDB
Motif
Pfam: Homeodomain Homeobox_KN
Other DBs
NCBI-GeneID: 1482
NCBI-ProteinID: NP_004378
OMIM: 600584
HGNC: 2488
Ensembl: ENSG00000183072
UniProt: P52952 A0A0S2Z383
Position
5:complement(173232109..173235206)
AA seq 324 aa
MFPSPALTPTPFSVKDILNLEQQQRSLAAAGELSARLEATLAPSSCMLAAFKPEAYAGPE
AAAPGLPELRAELGRAPSPAKCASAFPAAPAFYPRAYSDPDPAKDPRAEKKELCALQKAV
ELEKTEADNAERPRARRRRKPRVLFSQAQVYELERRFKQQRYLSAPERDQLASVLKLTST
QVKIWFQNRRYKCKRQRQDQTLELVGLPPPPPPPARRIAVPVLVRDGKPCLGDSAPYAPA
YGVGLNPYGYNAYPAYPGYGGAACSPGYSCTAAYPAGPSPAQPATAAANNNFVNFGVGDL
NAVQSPGIPQSNSGVSTLHGIRAW
NT seq 975 nt   +upstreamnt  +downstreamnt
atgttccccagccctgctctcacgcccacgcccttctcagtcaaagacatcctaaacctg
gaacagcagcagcgcagcctggctgccgccggagagctctctgcccgcctggaggcgacc
ctggcgccctcctcctgcatgctggccgccttcaagccagaggcctacgctgggcccgag
gcggctgcgccgggcctcccagagctgcgcgcagagctgggccgcgcgccttcaccggcc
aagtgtgcgtctgcctttcccgccgcccccgccttctatccacgtgcctacagcgacccc
gacccagccaaggaccctagagccgaaaagaaagagctgtgcgcgctgcagaaggcggtg
gagctggagaagacagaggcggacaacgcggagcggccccgggcgcgacggcggaggaag
ccgcgcgtgctcttctcgcaggcgcaggtctatgagctggagcggcgcttcaagcagcag
cggtacctgtcggcccccgaacgcgaccagctggccagcgtgctgaaactcacgtccacg
caggtcaagatctggttccagaaccggcgctacaagtgcaagcggcagcggcaggaccag
actctggagctggtggggctgcccccgccgccgccgccgcctgcccgcaggatcgcggtg
ccagtgctggtgcgcgatggcaagccatgcctaggggactcggcgccctacgcgcctgcc
tacggcgtgggcctcaatccctacggttataacgcctaccccgcctatccgggttacggc
ggcgcggcctgcagccctggctacagctgcactgccgcttaccccgccgggccttcccca
gcgcagccggccactgccgccgccaacaacaacttcgtgaacttcggcgtcggggacttg
aatgcggttcagagccccgggattccgcagagcaactcgggagtgtccacgctgcatggt
atccgagcctggtag

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