Homo sapiens Gene: NKX2-5
Summary
InnateDB Gene IDBG-58041.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol NKX2-5
Gene Name NK2 homeobox 5
Synonyms CHNG5; CSX; CSX1; HLHS2; NKX2.5; NKX2E; NKX4-1; VSD3;
Species Homo sapiens
Ensembl Gene ENSG00000183072
Encoded Proteins
NK2 homeobox 5
NK2 homeobox 5
NK2 homeobox 5
NK2 homeobox 5
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 5:173232109-173235357
Strand Reverse strand
Band q35.1
Transcripts
ENST00000329198 ENSP00000327758
ENST00000424406 ENSP00000395378
ENST00000521848 ENSP00000427906
ENST00000517440 ENSP00000429905
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 16 experimentally validated interaction(s) in this database.
They are also associated with 11 interaction(s) predicted by orthology.
Experimentally validated
Total 16 [view]
Protein-Protein 15 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 11 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0001077 RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
GO:0001104 RNA polymerase II transcription cofactor activity
GO:0001190 RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription
GO:0003677 DNA binding
GO:0003682 chromatin binding
GO:0003700 sequence-specific DNA binding transcription factor activity
GO:0003705 RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity
GO:0005515 protein binding
GO:0008134 transcription factor binding
GO:0010736 serum response element binding
GO:0042803 protein homodimerization activity
GO:0043565 sequence-specific DNA binding
GO:0044212 transcription regulatory region DNA binding
GO:0046982 protein heterodimerization activity
Biological Process
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0001570 vasculogenesis
GO:0001947 heart looping
GO:0003007 heart morphogenesis
GO:0003148 outflow tract septum morphogenesis
GO:0003151 outflow tract morphogenesis
GO:0003161 cardiac conduction system development
GO:0003162 atrioventricular node development
GO:0003166 bundle of His development
GO:0003168 Purkinje myocyte differentiation
GO:0003208 cardiac ventricle morphogenesis
GO:0003211 cardiac ventricle formation
GO:0003221 right ventricular cardiac muscle tissue morphogenesis
GO:0003222 ventricular trabecula myocardium morphogenesis
GO:0003278 apoptotic process involved in heart morphogenesis
GO:0003285 septum secundum development
GO:0003342 proepicardium development
GO:0003350 pulmonary myocardium development
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0006366 transcription from RNA polymerase II promoter
GO:0007507 heart development
GO:0007512 adult heart development
GO:0008284 positive regulation of cell proliferation
GO:0010628 positive regulation of gene expression
GO:0010667 negative regulation of cardiac muscle cell apoptotic process
GO:0010735 positive regulation of transcription via serum response element binding
GO:0010765 positive regulation of sodium ion transport
GO:0010832 negative regulation of myotube differentiation
GO:0030097 hemopoiesis
GO:0030154 cell differentiation
GO:0030509 BMP signaling pathway
GO:0030878 thyroid gland development
GO:0035050 embryonic heart tube development
GO:0043066 negative regulation of apoptotic process
GO:0045214 sarcomere organization
GO:0045666 positive regulation of neuron differentiation
GO:0045823 positive regulation of heart contraction
GO:0045892 negative regulation of transcription, DNA-templated
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0048536 spleen development
GO:0048738 cardiac muscle tissue development
GO:0051891 positive regulation of cardioblast differentiation
GO:0055005 ventricular cardiac myofibril assembly
GO:0055007 cardiac muscle cell differentiation
GO:0055008 cardiac muscle tissue morphogenesis
GO:0055014 atrial cardiac muscle cell development
GO:0055015 ventricular cardiac muscle cell development
GO:0055117 regulation of cardiac muscle contraction
GO:0060037 pharyngeal system development
GO:0060038 cardiac muscle cell proliferation
GO:0060043 regulation of cardiac muscle cell proliferation
GO:0060047 heart contraction
GO:0060048 cardiac muscle contraction
GO:0060070 canonical Wnt signaling pathway
GO:0060261 positive regulation of transcription initiation from RNA polymerase II promoter
GO:0060347 heart trabecula formation
GO:0060412 ventricular septum morphogenesis
GO:0060413 atrial septum morphogenesis
GO:0060928 atrioventricular node cell development
GO:0060929 atrioventricular node cell fate commitment
GO:0060971 embryonic heart tube left/right pattern formation
GO:0072358 cardiovascular system development
GO:0090090 negative regulation of canonical Wnt signaling pathway
GO:1901387 positive regulation of voltage-gated calcium channel activity
Cellular Component
GO:0005634 nucleus
GO:0005667 transcription factor complex
GO:0005737 cytoplasm
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Generic Transcription Pathway pathway
YAP1- and WWTR1 (TAZ)-stimulated gene expression pathway
Gene Expression pathway
KEGG
INOH
PID BIOCARTA
Nfat and hypertrophy of the heart [Biocarta view]
Alk in cardiac myocytes [Biocarta view]
Hop pathway in cardiac development [Biocarta view]
PID NCI
Regulation of nuclear SMAD2/3 signaling
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.54473
RefSeq NM_001166175 NM_001166176 NM_004387
HUGO
OMIM
CCDS CCDS4387 CCDS54949 CCDS54950
HPRD 02787
IMGT
EMBL
GenPept
RNA Seq Atlas