cardiac-specific homeobox protein CSX; homeobox protein Nkx-2.5; homeobox protein NK-2 homolog E; NKX2-5 (CSX, NKX25, NKX2E)
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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
More general terms
References
- ↑ UniProt http://www.uniprot.org/uniprot/P52952.html
- ↑ OMIM https://mirror.omim.org/entry/600584
- ↑ Atlas of genetics & cytogenetics in oncology & haematology http://atlasgeneticsoncology.org/genes/NKX25ID42958ch5q35.html
- ↑ Genedis; Note: congenital heart disease website http://life2.tau.ac.il/genedis/Tables/ASD/asd.html
- ↑ GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=NKX2-5