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
Pfam: Homeobox Homeobox_KN Homez
Motif
Other DBs
NCBI-GeneID: 1482
NCBI-ProteinID: NP_004378
OMIM: 600584
HGNC: 2488
Ensembl: ENSG00000183072
Vega: OTTHUMG00000130522
Pharos: P52952(Tbio)
UniProt: P52952 A0A0S2Z383
Structure
PDB: 

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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