NKX2.5

Official Full Name

NK2 homeobox 5

Organism

Homo sapiens

Gene ID

1482

Background

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. [provided by RefSeq, Oct 2009]

Synonyms

NKX2-5; CSX; CSX1; VSD3; CHNG5; HLHS2; NKX2E; NKX2.5; NKX4-1

Cat.No.	Product Name	Price
CSC-DC010413	Panoply™ Human NKX2-5 Knockdown Stable Cell Line	Inquiry
CSC-SC010413	Panoply™ Human NKX2-5 Over-expressing Stable Cell Line	Inquiry

Cat.No.	Product Name	Price
AD10814Z	Human NKX2-5 adenoviral particles	Inquiry
LV19599L	human NKX2-5 (NM_001166175) lentivirus particles	Inquiry
LV19600L	human NKX2-5 (NM_001166176) lentivirus particles	Inquiry
LV19601L	human NKX2-5 (NM_004387) lentivirus particles	Inquiry

Cat.No.	Product Name	Price
SHR012018	shRNA set against Rat Nkx2-5(NM_053651.1)	Inquiry
SHR012036	shRNA set against Mouse Nkx2-5(NM_008700.2)	Inquiry
SHW005663	shRNA set against Chicken NKX2-5 (NM_205164)	Inquiry
SHW014876	shRNA set against Danio rerio NKX2.5 (NM_131421)	Inquiry

Cat.No.	Product Name	Price
MiUTR3H-03498	NKX2-5 miRNA 3'UTR clone	Inquiry
MiUTR3H-03497	NKX2-5 miRNA 3'UTR clone	Inquiry
CDFG018556	Mouse Nkx2 cDNA Clone(NM_001077632.1)	Inquiry
CDFH012577	Human NKX2 cDNA Clone(NM_001166175.1)	Inquiry
CDFH012578	Human NKX2 cDNA Clone(NM_001166176.1)	Inquiry
CDCR373475	Rat Nkx2 ORF Clone(NM_001106732.1)	Inquiry
CDFH012580	Human NKX2 cDNA Clone(NM_003317.3)	Inquiry
CDFH012582	Human NKX2 cDNA Clone(NM_014360.2)	Inquiry
CDFL008401	Mouse Nkx2 cDNA Clone(NM_023504.1)	Inquiry
CDFG008989	Human NKX2 cDNA Clone(NM_145285.2)	Inquiry
CDFR006464	Rat Nkx2 cDNA Clone(NM_001106732.1)	Inquiry
CDFR009628	Rat Nkx2 cDNA Clone(NM_001127653.1)	Inquiry
CDFR010894	Rat Nkx2 cDNA Clone(NM_013093.1)	Inquiry
CDFR013369	Rat Nkx2 cDNA Clone(NM_053651.1)	Inquiry
MiUTR1M-07677	NKX2-5 miRNA 3'UTR clone	Inquiry
CDCR245980	Mouse Nkx2 ORF Clone(NM_008700.2)	Inquiry
CDCR238334	Mouse Nkx2 ORF Clone(NM_001146198.1)	Inquiry
MiUTR1R-04204	NKX2-5 miRNA 3'UTR clone	Inquiry
MiUTR3H-03496	NKX2-5 miRNA 3'UTR clone	Inquiry
CDFR007243	Rat Nkx2 cDNA Clone(NM_001107594.1)	Inquiry
CDFG006675	Human NKX2 cDNA Clone(NM_033176.1)	Inquiry
CDCR380456	Rat Nkx2 ORF Clone(NM_053651.1)	Inquiry
CDCR377971	Rat Nkx2 ORF Clone(NM_013093.1)	Inquiry
CDCR376681	Rat Nkx2 ORF Clone(NM_001127653.1)	Inquiry
CDCR374329	Rat Nkx2 ORF Clone(NM_001107594.1)	Inquiry
CDCR355235	Human NKX2 ORF Clone(NM_001166176.1)	Inquiry
CDCR355234	Human NKX2 ORF Clone(NM_001166175.1)	Inquiry
CDCR318405	Human NKX2 ORF Clone(NM_145285.2)	Inquiry
CDCR313540	Human NKX2 ORF Clone(NM_033176.1)	Inquiry
CDCR297395	Human NKX2 ORF Clone(NM_014360.2)	Inquiry
CDCR256098	Mouse Nkx2 ORF Clone(NM_023504.1)	Inquiry
CDCR249847	Mouse Nkx2 ORF Clone(NM_010920.2)	Inquiry
CDCR247132	Mouse Nkx2 ORF Clone(NM_009385.3)	Inquiry
CDCR245982	Mouse Nkx2 ORF Clone(NM_008701.2)	Inquiry
CDCB195482	Rabbit NKX2-5 ORF clone (XM_002710385.2)	Inquiry
CDCB176351	Danio rerio NKX2.5 ORF Clone (NM_131421)	Inquiry
CDCS408822	Human NKX2-5 ORF Clone (BC025711)	Inquiry
CDCB167138	Chicken NKX2-5 ORF Clone (NM_205164)	Inquiry

Detailed Information

The NKX2.5 gene belongs to the Hombox gene family and is the first transcription factor expressed in the heart development of all vertebrates. Homeodomain (HD) oligonucleotide probe technique was initially used to screen the dorsal DNA library of drosophila, so as to clone the Homeodomain gene and isolate a type of NK2 gene-tin gene, which is closely related to the development of dorsal blood vessels and heart. When the gene is mutated, it causes abnormalities in the heart of Drosophila, suggesting that this gene is essential for Drosophila heart formation.

NKX2.5 Functions in the Heart

NKX2.5 is an early marker of cardiac precursor cell development. Mouse embryos at 7.5 days NKX2.5It begins to express and participate in the whole process of heart development during the embryonic period. When the heart is mature, it is found only in the ventricular muscle. Animal experiments have shown that NKX2.5 homozygous deletion causes embryo death at day 9-10. The main reason was that cardiac tube cyclification and growth and development were hindered and the circulation was exhausted. On day 12.5, tamoxifene was used to induce NKX2.5 gene knockout in mouse embryos. On day 16, arrhythmia, systolic function and structural defects occurred, and the mouse embryos died on day 17.5.

NKX2.5 plays an important role in the morphological structure of the heart, compartmentalization and separation, rightward cyclization, functional maturation, and maintenance of the myocardial working nuclear transduction system. Knockout of the ventricular muscle-specific NKX2.5 gene causes hypertrophy of the heart, disordered sarcomere, and excessive ventricular trabecular hyperplasia leading to a poorer phenotype of the cardiac muscle. Under the induction of a specific signal, the NKX2.5 gene is expressed in a specific space-time sequence of cardiac development through the action of promoters, enhancers, inhibitors and autoregulators; it also participates directly or indirectly as a transcription factor. Other gene expression closely related to cardiac development, thereby achieving the regulation of the normal function of the mature heart and the development of the heart.

NKX2.5 Figure 1. Post-transcriptional Regulation of Nkx2-5 by RHAU in Heart Development. (Nie, J., et al. 2015)

NKX2.5 Gene Mutation and Congenital Heart Disease (CHD)

NKX2.5 gene mutation is primarily a missense mutation of exon, nonsense mutations, RNA splicing signal mutation, oligonucleotide sequence splicing abnormal insertions or deletions cause introns, and reading frame shift caused by the protein truncation, causing the occurrence of cardiac malformation with its single or multiple mutation and abnormal expression of related genes.

The coding domain of the entire NKX2.5 gene was sequenced in 136 patients with ventricular septal defect, and a relative of a genetic family with mutations identified and 200 unrelated individuals were genotyped. A heterozygous NKX2.5p.P59A mutation was identified in an autosomal dominant ventricular septal defect family. The analysis showed that the NKX2.5p.P59A mutation was associated with decreased transcriptional activity. These findings extend the NKX2.5 mutation spectrum associated with ventricular septal defects and provide a new visual field of molecular mechanisms associated with ventricular septal defects.

NKX2.5 gene mutations were detected in 608 patients with CHD. Twelve mutations were found in 18 patients (including Arg25Cys mutations and Glu21Gln, Arg216Cys, Arg25Cys, and Ala219Val mutations found in TOF patients), and two new mutations (Ala323Thr and Gln22Pro) were found in TOF patients. Of the 12 mutations, 11 caused amino acid changes through missense mutations, deletions or substitutions in exons, and one mutation caused early termination of the transcription.

References:

Liu, Y. , & Cao, X. . (2016). Characteristics and significance of the pre-metastatic niche. Cancer Cell, 30(5), 668-681.
Garg, G. , Gibbs, J. , Belt, B. , Powell, M. A. , Mutch, D. G. , & Goedegebuure, P. , et al. (2014). Novel treatment option for muc16-positive malignancies with the targeted trail-based fusion protein meso-tr3. BMC Cancer, 14.
Elles E, S. G. , Johansen, M. M. , Bjerre, J. V. , Hjortdal, V. E. , Brunak, S. , & Larsen, L. A. . (2016). Familial atrial septal defect and sudden cardiac death: identification of a novel\r, nkx2-5\r, mutation and a review of the literature. Congenital Heart Disease, 11(3), 283-290.

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