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Aliases for NKX2-5 Gene

Aliases for NKX2-5 Gene

  • NK2 Homeobox 5 2 3
  • NKX2E 3 4 6
  • CSX 3 4 6
  • Homeobox Protein NK-2 Homolog E 3 4
  • Homeobox Protein CSX 3 4
  • NKX2.5 3 4
  • CHNG5 3 6
  • HLHS2 3 6
  • VSD3 3 6
  • NK2 Transcription Factor Related, Locus 5 (Drosophila) 2
  • NK2 Transcription Factor Related, Locus 5 3
  • Tinman Paralog (Drosophila) 2
  • Cardiac-Specific Homeobox 1 3
  • Cardiac-Specific Homeo Box 2
  • Cardiac-Specific Homeobox 4
  • Homeobox Protein Nkx-2.5 3
  • Tinman Paralog 3
  • NKX4-1 3
  • CSX1 3

External Ids for NKX2-5 Gene

Previous HGNC Symbols for NKX2-5 Gene

  • CSX
  • NKX2E

Previous GeneCards Identifiers for NKX2-5 Gene

  • GC05M172916
  • GC05M173360
  • GC05M172594
  • GC05M172640
  • GC05M172591
  • GC05M172659
  • GC05M167754

Summaries for NKX2-5 Gene

Entrez Gene Summary for NKX2-5 Gene

  • 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]

GeneCards Summary for NKX2-5 Gene

NKX2-5 (NK2 Homeobox 5) is a Protein Coding gene. Diseases associated with NKX2-5 include ventricular septal defect 3 and hypoplastic left heart syndrome 2. Among its related pathways are Heart Development and NFAT and Cardiac Hypertrophy. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and sequence-specific DNA binding. An important paralog of this gene is HMX2.

UniProtKB/Swiss-Prot for NKX2-5 Gene

  • Implicated in commitment to and/or differentiation of the myocardial lineage. Acts as a transcriptional activator of ANF in cooperation with GATA4 (By similarity). It is transcriptionally controlled by PBX1 and acts as a transcriptional repressor of CDKN2B (By similarity). It is required for spleen development.

Gene Wiki entry for NKX2-5 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NKX2-5 Gene

Genomics for NKX2-5 Gene

Regulatory Elements for NKX2-5 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for NKX2-5 Gene

Start:
173,232,104 bp from pter
End:
173,235,357 bp from pter
Size:
3,254 bases
Orientation:
Minus strand

Genomic View for NKX2-5 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NKX2-5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NKX2-5 Gene

Proteins for NKX2-5 Gene

  • Protein details for NKX2-5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P52952-NKX25_HUMAN
    Recommended name:
    Homeobox protein Nkx-2.5
    Protein Accession:
    P52952
    Secondary Accessions:
    • A8K3K0
    • B4DNB6
    • E9PBU6

    Protein attributes for NKX2-5 Gene

    Size:
    324 amino acids
    Molecular mass:
    34918 Da
    Quaternary structure:
    • 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. Interacts with TBX18.

    Three dimensional structures from OCA and Proteopedia for NKX2-5 Gene

    Alternative splice isoforms for NKX2-5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NKX2-5 Gene

Proteomics data for NKX2-5 Gene at MOPED

Post-translational modifications for NKX2-5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NKX2-5 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for NKX2-5 (NKX2-5)

No data available for DME Specific Peptides for NKX2-5 Gene

Domains for NKX2-5 Gene

Gene Families for NKX2-5 Gene

HGNC:
  • NKL :Homeoboxes / ANTP class : NKL subclass

Protein Domains for NKX2-5 Gene

Graphical View of Domain Structure for InterPro Entry

P52952

UniProtKB/Swiss-Prot:

NKX25_HUMAN :
  • P52952
Domain:
  • Contains 1 homeobox DNA-binding domain.
Family:
  • Belongs to the NK-2 homeobox family.
genes like me logo Genes that share domains with NKX2-5: view

Function for NKX2-5 Gene

Molecular function for NKX2-5 Gene

UniProtKB/Swiss-Prot Function: Implicated in commitment to and/or differentiation of the myocardial lineage. Acts as a transcriptional activator of ANF in cooperation with GATA4 (By similarity). It is transcriptionally controlled by PBX1 and acts as a transcriptional repressor of CDKN2B (By similarity). It is required for spleen development.

Gene Ontology (GO) - Molecular Function for NKX2-5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding IMP 15649947
GO:0001077 RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription IMP 15649947
GO:0001104 RNA polymerase II transcription cofactor activity IEA --
GO:0001190 RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription IEA --
GO:0003677 DNA binding IDA 9858576
genes like me logo Genes that share ontologies with NKX2-5: view
genes like me logo Genes that share phenotypes with NKX2-5: view

Animal Models for NKX2-5 Gene

MGI Knock Outs for NKX2-5:

Animal Model Products

CRISPR Products

miRNA for NKX2-5 Gene

Targeting motifs for NKX2-5 Gene
HOMER Transcription Factor Regulatory Elements motif NKX2-5
  • Consensus sequence: AASCACTCAA Submotif: canonical Cell Type: HL1 GeoId: GSE21529

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for NKX2-5

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) and Transcription Factor Targeting for NKX2-5 Gene

Localization for NKX2-5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NKX2-5 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NKX2-5 Gene COMPARTMENTS Subcellular localization image for NKX2-5 gene
Compartment Confidence
nucleus 4
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for NKX2-5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 10948187
GO:0005667 transcription factor complex IC 9312027
GO:0005737 cytoplasm IEA --
GO:0090575 RNA polymerase II transcription factor complex IDA 9312027
genes like me logo Genes that share ontologies with NKX2-5: view

Pathways for NKX2-5 Gene

genes like me logo Genes that share pathways with NKX2-5: view

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for NKX2-5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter ISS 8900537
GO:0001570 vasculogenesis ISS 8900537
GO:0001947 heart looping ISS 8900537
GO:0003007 heart morphogenesis ISS 8900537
GO:0003148 outflow tract septum morphogenesis IMP 20807224
genes like me logo Genes that share ontologies with NKX2-5: view

Compounds for NKX2-5 Gene

(3) Novoseek inferred chemical compound relationships for NKX2-5 Gene

Compound -log(P) Hits PubMed IDs
zinc 24.8 3
serine 11.1 1
nitric oxide 0 3
genes like me logo Genes that share compounds with NKX2-5: view

Transcripts for NKX2-5 Gene

Unigene Clusters for NKX2-5 Gene

NK2 homeobox 5:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for NKX2-5

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for NKX2-5 Gene

No ASD Table

Relevant External Links for NKX2-5 Gene

GeneLoc Exon Structure for
NKX2-5
ECgene alternative splicing isoforms for
NKX2-5

Expression for NKX2-5 Gene

mRNA expression in normal human tissues for NKX2-5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NKX2-5 Gene

This gene is overexpressed in Heart - Left Ventricle (26.3), Heart - Atrial Appendage (21.1), and Spleen (4.6).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for NKX2-5 Gene

SOURCE GeneReport for Unigene cluster for NKX2-5 Gene Hs.54473

mRNA Expression by UniProt/SwissProt for NKX2-5 Gene

P52952-NKX25_HUMAN
Tissue specificity: Expressed only in the heart
genes like me logo Genes that share expressions with NKX2-5: view

In Situ Assay Products

Orthologs for NKX2-5 Gene

This gene was present in the common ancestor of animals.

Orthologs for NKX2-5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NKX2-5 35
  • 99.28 (n)
  • 99.69 (a)
NKX2-5 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia NKX2-5 35
  • 91.12 (n)
  • 95.05 (a)
NKX2-5 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NKX2-5 35
  • 91.3 (n)
  • 94.39 (a)
NKX2.5 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nkx2-5 35
  • 86.06 (n)
  • 89.31 (a)
Nkx2-5 16
Nkx2-5 36
  • 89 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NKX2-5 36
  • 72 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nkx2-5 35
  • 86.06 (n)
  • 87.42 (a)
chicken
(Gallus gallus)
Aves NKX2-5 35
  • 70.75 (n)
  • 70.41 (a)
NKX2-5 36
  • 72 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NKX2-5 36
  • 58 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia nkx2.5-prov 35
tropical clawed frog
(Silurana tropicalis)
Amphibia nkx2-5 35
  • 64.63 (n)
  • 67.69 (a)
zebrafish
(Danio rerio)
Actinopterygii nkx2.5 35
  • 59.96 (n)
  • 57.76 (a)
nkx2.5 36
  • 54 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta tin 36
  • 19 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ceh-28 36
  • 34 (a)
OneToMany
Species with no ortholog for NKX2-5:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for NKX2-5 Gene

ENSEMBL:
Gene Tree for NKX2-5 (if available)
TreeFam:
Gene Tree for NKX2-5 (if available)

Paralogs for NKX2-5 Gene

genes like me logo Genes that share paralogs with NKX2-5: view

Variants for NKX2-5 Gene

Sequence variations from dbSNP and Humsavar for NKX2-5 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type MAF
rs703752 -- 173,232,508(+) TCCCC(A/C)CGAGA utr-variant-3-prime
rs2277923 Benign 173,235,021(-) CTGGA(A/G)CAGCA reference, synonymous-codon, upstream-variant-2KB
rs3095870 -- 173,236,451(-) GGAAT(A/G)GAGAA upstream-variant-2KB
rs3095871 Benign 173,233,520(-) TATTT(A/T)TTTTT intron-variant
rs3131915 -- 173,233,891(-) GGGCC(C/G)CTGCC intron-variant, synonymous-codon, reference

Relevant External Links for NKX2-5 Gene

HapMap Linkage Disequilibrium report
NKX2-5
Human Gene Mutation Database (HGMD)
NKX2-5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for NKX2-5 Gene

Disorders for NKX2-5 Gene

(6) OMIM Diseases for NKX2-5 Gene (600584)

UniProtKB/Swiss-Prot

NKX25_HUMAN
  • Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) [MIM:108900]: A congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria, and atrioventricular conduction defects in some cases. {ECO:0000269 PubMed:10587520, ECO:0000269 PubMed:14607454, ECO:0000269 PubMed:15342699, ECO:0000269 PubMed:15810002, ECO:0000269 PubMed:9651244}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Tetralogy of Fallot (TOF) [MIM:187500]: A congenital heart anomaly which consists of pulmonary stenosis, ventricular septal defect, dextroposition of the aorta (aorta is on the right side instead of the left) and hypertrophy of the right ventricle. In this condition, blood from both ventricles (oxygen-rich and oxygen-poor) is pumped into the body often causing cyanosis. {ECO:0000269 PubMed:10587520, ECO:0000269 PubMed:11714651, ECO:0000269 PubMed:14607454}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Conotruncal heart malformations (CTHM) [MIM:217095]: A group of congenital heart defects involving the outflow tracts. Examples include truncus arteriosus communis, double-outlet right ventricle and transposition of great arteries. Truncus arteriosus communis is characterized by a single outflow tract instead of a separate aorta and pulmonary artery. In transposition of the great arteries, the aorta arises from the right ventricle and the pulmonary artery from the left ventricle. In double outlet of the right ventricle, both the pulmonary artery and aorta arise from the right ventricle. {ECO:0000269 PubMed:14607454, ECO:0000269 PubMed:17891434}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Hypothyroidism, congenital, non-goitrous, 5 (CHNG5) [MIM:225250]: A non-autoimmune condition characterized by resistance to thyroid-stimulating hormone (TSH) leading to increased levels of plasma TSH and low levels of thyroid hormone. CHNG5 presents variable severity depending on the completeness of the defect. Most patients are euthyroid and asymptomatic, with a normal sized thyroid gland. Only a subset of patients develop hypothyroidism and present a hypoplastic thyroid gland. {ECO:0000269 PubMed:16418214}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Ventricular septal defect 3 (VSD3) [MIM:614432]: A common form of congenital cardiovascular anomaly that may occur alone or in combination with other cardiac malformations. It can affect any portion of the ventricular septum, resulting in abnormal communications between the two lower chambers of the heart. Classification is based on location of the communication, such as perimembranous, inlet, outlet (infundibular), central muscular, marginal muscular, or apical muscular defect. Large defects that go unrepaired may give rise to cardiac enlargement, congestive heart failure, pulmonary hypertension, Eisenmengers syndrome, delayed fetal brain development, arrhythmias, and even sudden cardiac death. {ECO:0000269 PubMed:21110066, ECO:0000269 PubMed:21165553}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Hypoplastic left heart syndrome 2 (HLHS2) [MIM:614435]: A syndrome due to defective development of the aorta proximal to the entrance of the ductus arteriosus, and hypoplasia of the left ventricle and mitral valve. As a result of the abnormal circulation, the ductus arteriosus and foramen ovale are patent and the right atrium, right ventricle, and pulmonary artery are enlarged. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Asplenia, isolated congenital (ICAS) [MIM:271400]: A rare primary immunodeficiency and life-threatening condition, often presenting with pneumococcal sepsis. Most affected individuals die of severe bacterial infections in early childhood. Isolated asplenia is distinct from asplenia associated with other complex visceral defects, notably heterotaxy syndromes such as Ivemark syndrome. {ECO:0000269 PubMed:22560297}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(16) Novoseek inferred disease relationships for NKX2-5 Gene

Disease -log(P) Hits PubMed IDs
atrial septal defects 76.4 13
congenital heart disease 76.4 14
defect conduction 76.2 3
heart defects congenital 73.7 15
septal defect 63.5 2

Relevant External Links for NKX2-5

Genetic Association Database (GAD)
NKX2-5
Human Genome Epidemiology (HuGE) Navigator
NKX2-5
genes like me logo Genes that share disorders with NKX2-5: view

Publications for NKX2-5 Gene

  1. Molecular cloning, chromosomal mapping, and characterization of the human cardiac-specific homeobox gene hCsx. (PMID: 8900537) Turbay D. … Izumo S. (Mol. Med. 1996) 2 3 4 23
  2. The effect of p.Arg25Cys alteration in NKX2-5 on conotruncal heart anomalies: mutation or polymorphism? (PMID: 17891434) AkAsaboy M.I. … Tekin M. (Pediatr Cardiol 2008) 3 4 23 48
  3. Assignment of cardiac homeobox gene CSX to human chromosome 5q34. (PMID: 7665173) Shiojima I. … Yazaki Y. (Genomics 1995) 2 3 23
  4. Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways. (PMID: 10587520) Benson D.W. … Kugler J.D. (J. Clin. Invest. 1999) 3 4 23
  5. NKX2.5 mutations in patients with non-syndromic congenital heart disease. (PMID: 19073351) Gioli-Pereira L. … Krieger J.E. (Int. J. Cardiol. 2010) 3 23 48

Products for NKX2-5 Gene

Sources for NKX2-5 Gene

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