NP_001159647.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
11,681 Da
NCBI Official Full Name
homeobox protein Nkx-2.5 isoform 2
NCBI Official Synonym Full Names
NK2 homeobox 5
NCBI Official Synonym Symbols
CSX; CSX1; VSD3; CHNG5; HLHS2; NKX2E; NKX2.5; NKX4-1 [Similar Products]
NCBI Protein Information
homeobox protein Nkx-2.5
UniProt Protein Name
Homeobox protein Nkx-2.5
UniProt Synonym Protein Names
Cardiac-specific homeobox; Homeobox protein CSX; Homeobox protein NK-2 homolog E
UniProt Synonym Gene Names
UniProt Entry Name
NKX25_HUMAN
NCBI Summary for NKX2-5
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]
UniProt Comments for NKX2-5
NKX2-5: Implicated in commitment to and/or differentiation of the myocardial lineage. Acts as a transcriptional activator of ANF in cooperation with GATA4. Interacts with HIPK1 and HIPK2, but not HIPK3. Interacts with the C-terminal zinc finger of GATA4 through its homeobox domain. Also interacts with JARID2 which represses its ability to activate transcription of ANF. Interacts with FBLIM1. Expressed only in the heart. Belongs to the NK-2 homeobox family. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: DNA-binding
Chromosomal Location of Human Ortholog: 5q34
Cellular Component: cytoplasm; nucleus; transcription factor complex
Molecular Function: chromatin binding; DNA binding; protein binding; protein heterodimerization activity; protein homodimerization activity; RNA polymerase II transcription factor activity, enhancer binding; sequence-specific DNA binding; transcription factor activity; transcription factor binding
Biological Process: adult heart development; atrial cardiac muscle cell development; BMP signaling pathway; cardiac muscle cell differentiation; cardiac muscle cell proliferation; cardiac muscle contraction; cardiac muscle morphogensis; cell differentiation; embryonic heart tube development; heart looping; heart morphogenesis; hemopoiesis; negative regulation of apoptosis; negative regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-dependent; pharyngeal system development; positive regulation of cardioblast differentiation; positive regulation of cell proliferation; positive regulation of heart contraction; positive regulation of neuron differentiation; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; regulation of cardiac muscle cell proliferation; sarcomere organization; spleen development; thyroid gland development; transcription from RNA polymerase II promoter; vasculogenesis; ventricular cardiac muscle cell development; ventricular cardiac myofibril development; Wnt receptor signaling pathway through beta-catenin
Disease: Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects; Conotruncal Heart Malformations; Hypoplastic Left Heart Syndrome 2; Hypothyroidism, Congenital, Nongoitrous, 5; Tetralogy Of Fallot; Ventricular Septal Defect 3
Research Articles on NKX2-5
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Products associated with anti-NKX2-5 antibody
Pathways associated with anti-NKX2-5 antibody
Diseases associated with anti-NKX2-5 antibody
Organs/Tissues associated with anti-NKX2-5 antibody
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