Nkx2.5
Nkx2.5 (NK2 homeobox 5, also known as CSX, CSX1, NKX2E and NKX4-1) is a homeobox-containing transcription factor that is required for the development of the heart and the spleen. It acts in the nucleus to regulate genes involved in cardiac formation. Browse Assay Genie's current range of Nkx2.5 research reagents below, or read on for the biology behind the target.
Nkx2.5 is a transcription factor required for the development of the heart and the spleen. During heart development it acts as a transcriptional activator of NPPA/ANF in cooperation with GATA4, binding to the core DNA motif of the NPPA promoter. It may also cooperate with TBX2 to negatively modulate NPPA/ANF expression in the atrioventricular canal. In spleen development, Nkx2.5 works together with PBX1 through a mechanism that involves repression of CDKN2B.
Nkx2.5 also positively regulates transcription of genes such as COL3A1 and MMP2, which results in increased pulmonary endothelial fibrosis in response to hypoxia. The protein is found in the nucleus and belongs to the NK-2 homeobox family. In the HGNC classification, the NKX2-5 gene sits within the NKL subclass homeoboxes and pseudogenes. Researchers working with the Nkx2.5 gene or protein can also look to the mouse and rat orthologs, both named Nkx2-5. Alternative splicing of the gene results in multiple transcript variants.
The gene was previously named cardiac-specific homeo box and NK2 transcription factor related, locus 5 (Drosophila), reflecting its cardiac role and its relationship to the Drosophila NK-2 genes. Mutations in NKX2-5 cause atrial septal defect with atrioventricular conduction defect and tetralogy of Fallot, both heart malformation diseases. Mutations can also cause congenital hypothyroidism non-goitrous type 5, a non-autoimmune condition.
Nkx2.5 is required for heart formation and development, and activates NPPA/ANF together with GATA4 during cardiogenesis.
Mutations in NKX2-5 cause atrial septal defect with atrioventricular conduction defect and tetralogy of Fallot.
Nkx2.5 acts with PBX1 in spleen development through a mechanism involving repression of CDKN2B.
Nkx2.5 promotes COL3A1 and MMP2 transcription, increasing pulmonary endothelial fibrosis in response to hypoxia.
Nkx2.5 is a nuclear transcription factor required for heart and spleen development. In the heart it activates NPPA/ANF with GATA4, and in the spleen it works with PBX1 to repress CDKN2B. It also promotes COL3A1 and MMP2 transcription in hypoxia-related pulmonary fibrosis.
The HGNC symbol is NKX2-5, and aliases include CSX, CSX1, NKX2.5, NKX2E and NKX4-1. Earlier names were cardiac-specific homeo box and NK2 transcription factor related, locus 5 (Drosophila). Alternative splicing produces multiple transcript variants. Check the datasheet of any product for its validated reactivity.
Yes. Mutations in NKX2-5 cause atrial septal defect with atrioventricular conduction defect and tetralogy of Fallot, both heart malformations. They can also cause congenital hypothyroidism non-goitrous type 5, a non-autoimmune condition. Mouse and rat orthologs are both named Nkx2-5.
Other NK homeobox transcription factors with products at Assay Genie.
Gene and protein annotations from HGNC, NCBI Gene and UniProt P52952; product specifications from Assay Genie datasheets.