Homo sapiens (human): 1482
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Entry
1482 CDS
T01001
Symbol
NKX2-5, CHNG5, CSX, CSX1, HLHS2, NKX2.5, NKX2E, NKX4-1, VSD3
Name
(RefSeq) homeobox protein Nkx-2.5 isoform 1
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
Ortholog
Paralog
GFIT
Motif
Pfam:
Homeodomain
Homeobox_KN
HTH_NDX
Motif
Other DBs
NCBI-GeneID:
1482
NCBI-ProteinID:
NP_004378
OMIM:
600584
HGNC:
2488
Ensembl:
ENSP00000327758.4
UniProt:
P52952
A0A0S2Z383
Structure
PDB
PDBj
LinkDB
All DBs
Position
5:complement(173232109..173235206)
Genome browser
AA seq
324 aa
AA seq
DB search
MFPSPALTPTPFSVKDILNLEQQQRSLAAAGELSARLEATLAPSSCMLAAFKPEAYAGPE
AAAPGLPELRAELGRAPSPAKCASAFPAAPAFYPRAYSDPDPAKDPRAEKKELCALQKAV
ELEKTEADNAERPRARRRRKPRVLFSQAQVYELERRFKQQRYLSAPERDQLASVLKLTST
QVKIWFQNRRYKCKRQRQDQTLELVGLPPPPPPPARRIAVPVLVRDGKPCLGDSAPYAPA
YGVGLNPYGYNAYPAYPGYGGAACSPGYSCTAAYPAGPSPAQPATAAANNNFVNFGVGDL
NAVQSPGIPQSNSGVSTLHGIRAW
NT seq
975 nt
NT seq
+upstream
nt +downstream
nt
atgttccccagccctgctctcacgcccacgcccttctcagtcaaagacatcctaaacctg
gaacagcagcagcgcagcctggctgccgccggagagctctctgcccgcctggaggcgacc
ctggcgccctcctcctgcatgctggccgccttcaagccagaggcctacgctgggcccgag
gcggctgcgccgggcctcccagagctgcgcgcagagctgggccgcgcgccttcaccggcc
aagtgtgcgtctgcctttcccgccgcccccgccttctatccacgtgcctacagcgacccc
gacccagccaaggaccctagagccgaaaagaaagagctgtgcgcgctgcagaaggcggtg
gagctggagaagacagaggcggacaacgcggagcggccccgggcgcgacggcggaggaag
ccgcgcgtgctcttctcgcaggcgcaggtctatgagctggagcggcgcttcaagcagcag
cggtacctgtcggcccccgaacgcgaccagctggccagcgtgctgaaactcacgtccacg
caggtcaagatctggttccagaaccggcgctacaagtgcaagcggcagcggcaggaccag
actctggagctggtggggctgcccccgccgccgccgccgcctgcccgcaggatcgcggtg
ccagtgctggtgcgcgatggcaagccatgcctaggggactcggcgccctacgcgcctgcc
tacggcgtgggcctcaatccctacggttataacgcctaccccgcctatccgggttacggc
ggcgcggcctgcagccctggctacagctgcactgccgcttaccccgccgggccttcccca
gcgcagccggccactgccgccgccaacaacaacttcgtgaacttcggcgtcggggacttg
aatgcggttcagagccccgggattccgcagagcaactcgggagtgtccacgctgcatggt
atccgagcctggtag
DBGET
integrated database retrieval system
