Property Summary

NCBI Gene PubMed Count 150
Grant Count 305
R01 Count 131
Funding $67,502,670.81
PubMed Score 566.01
PubTator Score 429.80

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (1)

Disease log2 FC p
osteosarcoma 1.054 0.002

Synonym

Accession P52952 A8K3K0 B4DNB6 E9PBU6
Symbols CSX
CSX1
VSD3
CHNG5
HLHS2
NKX2E
NKX2.5
NKX4-1

Gene

PDB

3RKQ   4S0H  

Gene RIF (131)

PMID Text
26931254 the frequency of NKX2.5 gene mutations among the patient with Atrial septal defect: in 80% of the affected individuals two polymorphic sites are located at position 487 and 495.
26926761 The crystal structure and binding domains were identified in cardiac NKX2.5.
26898431 Overexpression of Nkx2.5 significantly promotes the differentiation of human umbilical cord drived mesenchymal stem cells into cardiomyocytes.
26823822 the single nucleotide polymorphism rs2277923 of NKX2-5 gene contributes to the risk of sporadic congenital heart disease in Chinese Bai people.
26421664 NKX2.5 mutations were not found. The c.63A>G polymorphism might be associated with thyroid hypoplasia.
26418945 This study reveals a novel pathway that directly links ErbB4 and p38gamma to the transcriptional machinery of NKx2.5-GATA4 complex which is critical for cardiomyocyte formation during mammalian heart development.
26297999 The novel DSV (1500G>C) of NKX2-5 gene may contribute to a small number of VSD, and rs2277923 SNP may contribute to the risk of sporadic ASD in Chinese Yunnan population.
26273787 We describe in this study the mutational and expression analysis of the NKX2.5 gene in nonsyndromic CHD patients
26180509 Our findings demonstrate that somatic NKX2-5 mutations do not represent an important aetiologic pathway in Chinese children with congenital heart disease.
25881702 tRNA suppressors suppress NKX2.5 premature stop codon and induce functional protein expression.
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AA Sequence

MFPSPALTPTPFSVKDILNLEQQQRSLAAAGELSARLEATLAPSSCMLAAFKPEAYAGPEAAAPGLPELR      1 - 70
AELGRAPSPAKCASAFPAAPAFYPRAYSDPDPAKDPRAEKKELCALQKAVELEKTEADNAERPRARRRRK     71 - 140
PRVLFSQAQVYELERRFKQQRYLSAPERDQLASVLKLTSTQVKIWFQNRRYKCKRQRQDQTLELVGLPPP    141 - 210
PPPPARRIAVPVLVRDGKPCLGDSAPYAPAYGVGLNPYGYNAYPAYPGYGGAACSPGYSCTAAYPAGPSP    211 - 280
AQPATAAANNNFVNFGVGDLNAVQSPGIPQSNSGVSTLHGIRAW                              281 - 324
//

Text Mined References (153)

PMID Year Title
27207958 2016 Variants of Transient Receptor Potential Melastatin Member 4 in Childhood Atrioventricular Block.
26931254 2016 The Aspect of NK2 Transcription Factor Related Locus-5 (NKX2.5) Gene Mutations in Bangladeshi Atrial Septal Defect (ASD) patients and 2D Relationship with their Age.
26926761 2016 Intermolecular Interactions of Cardiac Transcription Factors NKX2.5 and TBX5.
26898431 2016 Overexpressing NKx2.5 increases the differentiation of human umbilical cord drived mesenchymal stem cells into cardiomyocyte-like cells.
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
26823822 2015 Single nucleotide polymorphism of NKX2-5 gene with sporadic congenital heart disease in Chinese Bai population.
26421664 2015 The c.63A>G polymorphism in the NKX2.5 gene is associated with thyroid hypoplasia in children with thyroid dysgenesis.
26418945 2016 ErbB4 Activated p38? MAPK Isoform Mediates Early Cardiogenesis Through NKx2.5 in Human Pluripotent Stem Cells.
26297999 2016 Genetic variations of NKX2-5 in sporadic atrial septal defect and ventricular septal defect in Chinese Yunnan population.
26273787 2015 Investigation of NKX2.5 gene mutations in congenital heart defects in an Indian population.
More...