Contents

Search

cardiac-specific homeobox protein CSX; homeobox protein Nkx-2.5; homeobox protein NK-2 homolog E; NKX2-5 (CSX, NKX25, NKX2E)

Function: - implicated in commitment to &/or differentiation of the myocardial lineage - acts as a transcriptional activator of ANF in cooperation with GATA4 (putative) - interacts with HIPK1 & HIPK2, but not HIPK3 - interacts with the C-terminal Zn+2 finger of GATA4 through its homeobox domain - interacts with JARID2 which represses its ability to activate transcription of ANF - interacts with FBLIM1 Structure: - belongs to the NK-2 homeobox family - contains 1 homeobox DNA-binding domain Compartment: nucleus (probable) Expression: expressed only in the heart Pathology: - defects in NKX2-5 are the cause of a) atrial septal defect b) tetralogy of Fallot

General

homeobox protein

Properties

SIZE: entity length = 324 aa MW = 35 kD COMPARTMENT: cell nucleus MOTIF: proline-rich region SITE: 42-108 MOTIF: proline residue (SEVERAL) homeodomain SITE: 138-197 proline-rich region SITE: 208-282 MOTIF: proline residue (SEVERAL)

Database Correlations

OMIM correlations MORBIDMAP 600584 UniProt P52952 Pfam PF00046 Kegg hsa:1482

References

  1. UniProt :accession P52952
  2. OMIM :accession 600584
  3. Atlas of genetics & cytogenetics in oncology & haematology http://atlasgeneticsoncology.org/genes/NKX25ID42958ch5q35.html
  4. Genedis; Note: congenital heart disease website http://life2.tau.ac.il/genedis/Tables/ASD/asd.html
  5. GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=NKX2-5