-Genomic Data for NKX2-5 Links
Protein
NKX2-5
UniPROBE Accession Number
UP00604
Species
Homo sapiens
Domain
Homeobox
Name and Synonyms
Name: homeobox protein Nkx-2.5.
Synonyms:Cardiac-specific homeobox, CHNG5, CSX, CSX1, FLJ52202, FLJ97166, FLJ97195, FLJ97197, FLJ99536, Homeobox protein CSX, Homeobox protein NK-2 homolog E, Homeobox protein Nkx-2.5, NKX2.5, NKX2E, NKX4-1
Description
This gene encodes a homeobox-containing transcription factor. This transcription factor functions in heart formation and development. Mutations in this gene cause atrial septal defect with atrioventricular conduction defect, and also tetralogy of Fallot, which are both heart malformation diseases. Mutations in this gene can also cause congenital hypothyroidism non-goitrous type 5, a non-autoimmune condition. Alternative splicing results in multiple transcript variants.
NKX2-5 DNA binding domain
1   RKPRVLFSQA QVYELERRFK QQRYLSAPER DQLASVLKLT STQVKIWFQN
51  RRYKCKR
-PBM Motif Data for NKX2-5_REF_R1
PBM-Derived DNA Binding Site Motif (Seed-And-Wobble)
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PWM
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Top Kmer
AAGTACTT E.S. 0.499
AAGTACTT E.S. 0.499
Downloads
Download the zip of all NKX2-5_REF PBM files, or view the downloads directory for individual files. Please note that the files which include probe sequence data are protected by an academic research use license, which can be viewed here.
-PBM Motif Data for NKX2-5_K183E_R1
PBM-Derived DNA Binding Site Motif (Seed-And-Wobble)
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PWM
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Top Kmer
CCACTTGA E.S. 0.498
TCAAGTGG E.S. 0.498
Downloads
Download the zip of all NKX2-5_K183E PBM files, or view the downloads directory for individual files. Please note that the files which include probe sequence data are protected by an academic research use license, which can be viewed here.
-PBM Motif Data for NKX2-5_R161P_R1
PBM-Derived DNA Binding Site Motif (Seed-And-Wobble)
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PWM
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Top Kmer
AAGTACTT E.S. 0.498
AAGTACTT E.S. 0.498
Downloads
Download the zip of all NKX2-5_R161P PBM files, or view the downloads directory for individual files. Please note that the files which include probe sequence data are protected by an academic research use license, which can be viewed here.
-PBM Motif Data for NKX2-5_R190C_R1
PBM-Derived DNA Binding Site Motif (Seed-And-Wobble)
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PWM
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Top Kmer
TATA..TATA E.S. 0.481
TATA..TATA E.S. 0.481
Downloads
Download the zip of all NKX2-5_R190C PBM files, or view the downloads directory for individual files. Please note that the files which include probe sequence data are protected by an academic research use license, which can be viewed here.
-PBM Motif Data for NKX2-5_T178M_R1
PBM-Derived DNA Binding Site Motif (Seed-And-Wobble)
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PWM
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Top Kmer
AT.TA.ATTA E.S. 0.479
TAAT.TA.AT E.S. 0.479
Downloads
Download the zip of all NKX2-5_T178M PBM files, or view the downloads directory for individual files. Please note that the files which include probe sequence data are protected by an academic research use license, which can be viewed here.
Download Data for NKX2-5 (all alleles)
Downloads
Download the zip of all NKX2-5 PBM files, or view the downloads directory for individual files. Please note that the files which include probe sequence data are protected by an academic research use license, which can be viewed here.
-NKX2-5 Datasets
Clone Clone Type Last Modified Save View
NKX2-5_REF DNA binding domain only search save
NKX2-5_REF Insert Sequence
1   TEADNAERPR ARRRRKPRVL FSQAQVYELE RRFKQQRYLS APERDQLASV
51  LKLTSTQVKI WFQNRRYKCK RQRQDQTLEL VGLPPP



NKX2-5_K183E DNA binding domain only search save
NKX2-5_K183E Insert Sequence
1   TEADNAERPR ARRRRKPRVL FSQAQVYELE RRFKQQRYLS APERDQLASV
51  LKLTSTQVEI WFQNRRYKCK RQRQDQTLEL VGLPPP



NKX2-5_R161P DNA binding domain only search save
NKX2-5_R161P Insert Sequence
1   TEADNAERPR ARRRRKPRVL FSQAQVYELE RRFKQQPYLS APERDQLASV
51  LKLTSTQVKI WFQNRRYKCK RQRQDQTLEL VGLPPP



NKX2-5_R190C DNA binding domain only search save
NKX2-5_R190C Insert Sequence
1   TEADNAERPR ARRRRKPRVL FSQAQVYELE RRFKQQRYLS APERDQLASV
51  LKLTSTQVKI WFQNRCYKCK RQRQDQTLEL VGLPPP



NKX2-5_T178M DNA binding domain only search save
NKX2-5_T178M Insert Sequence
1   TEADNAERPR ARRRRKPRVL FSQAQVYELE RRFKQQRYLS APERDQLASV
51  LKLMSTQVKI WFQNRRYKCK RQRQDQTLEL VGLPPP



References
Data are analyzed by array designs with AMADID #s 030236, 015681 in Barrera et al., Science 2016


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