Recombinant Human Homeobox protein Nkx-2.5 (NKX2-5)

Uniprot Id

P52952

Target Species

Human

Target Name

NKX2-5

Target Full Name

Homeobox protein Nkx-2.5

Target Function

Transcription factor required for the development of the heart and the spleen. During heart development, acts as a transcriptional activator of NPPA/ANF in cooperation with GATA4. May cooperate with TBX2 to negatively modulate expression of NPPA/ANF in the atrioventricular canal. Binds to the core DNA motif of NPPA promoter. Together with PBX1, required for spleen development through a mechanism that involves CDKN2B repression.

Target Involvement

Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7); Tetralogy of Fallot (TOF); Conotruncal heart malformations (CTHM); Hypothyroidism, congenital, non-goitrous, 5 (CHNG5); Ventricular septal defect 3 (VSD3); Hypoplastic left heart syndrome 2 (HLHS2)

Target Subcellular Location

Nucleus.

Target Protein Families

NK-2 homeobox family

Target Tissue Specificity

Expressed only in the heart.

Target Synonyms

NKX2.5; mouse; homolog of; Cardiac-specific homeobox 1; Cardiac-specific homeobox; CHNG5; CSX; CSX1; FLJ52202; FLJ97166; FLJ97195; FLJ97197; FLJ99536; HLHS2; Homeobox protein CSX; Homeobox protein NK-2 homolog E; Homeobox protein Nkx 2.5; Homeobox protein Nkx-2.5; NK2 homeobox 5; NK2 transcription factor related locus 5; NK2 transcription factor related; locus 5 (Drosophila); NK2; Drosophila; homolog of; E; NKX2-5; NKX2.5; NKX25_HUMAN; Nkx2E; NKX4-1; Tinman paralog; VSD3

Target 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.