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Aliases for NKX2-5 Gene

Aliases for NKX2-5 Gene

  • NK2 Homeobox 5 2 3 5
  • Homeobox Protein NK-2 Homolog E 3 4
  • Homeobox Protein CSX 3 4
  • NKX2.5 3 4
  • NKX2E 3 4
  • CSX 3 4
  • NK2 Transcription Factor Related, Locus 5 (Drosophila) 2
  • NK2 Transcription Factor Related, Locus 5 3
  • 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
  • NKX 2-5 3
  • NKX4-1 3
  • CHNG5 3
  • HLHS2 3
  • CSX1 3
  • VSD3 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 Tetralogy Of Fallot and Ventricular Septal Defect 3. Among its related pathways are Gene Expression and Mesenchymal Stem Cell Differentiation Pathways and Lineage-specific Markers. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and sequence-specific DNA binding. An important paralog of this gene is DLX5.

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

Enhancers for NKX2-5 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around NKX2-5 on UCSC Golden Path with GeneCards custom track

Promoters for NKX2-5 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around NKX2-5 on UCSC Golden Path with GeneCards custom track

Genomic Location for NKX2-5 Gene

Chromosome:
5
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

Genes around NKX2-5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NKX2-5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

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

Domains & Families for NKX2-5 Gene

Gene Families for NKX2-5 Gene

Protein Domains for NKX2-5 Gene

Graphical View of Domain Structure for InterPro Entry

P52952

UniProtKB/Swiss-Prot:

NKX25_HUMAN :
  • Contains 1 homeobox DNA-binding domain.
  • Belongs to the NK-2 homeobox family.
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:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding IMP 15649947
GO:0001104 RNA polymerase II transcription cofactor activity IEA --
GO:0044212 transcription regulatory region DNA binding IDA 19479054
GO:0046982 protein heterodimerization activity ISS 8900537
genes like me logo Genes that share ontologies with NKX2-5: view
genes like me logo Genes that share phenotypes with NKX2-5: view

Human Phenotype Ontology for NKX2-5 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NKX2-5 Gene

MGI Knock Outs for NKX2-5:

Animal Model Products

CRISPR Products

Transcription Factor Targets for NKX2-5 Gene

Selected GeneGlobe predicted Target genes for NKX2-5
Targeted motifs for NKX2-5 Gene
HOMER Transcription Factor Regulatory Elements motif NKX2-5
  • Consensus sequence: AASCACTCAA Submotif: canonical Cell Type: HL1 GEO ID: GSE21529

No data available for Enzyme Numbers (IUBMB) 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 5
cytoskeleton 2
endoplasmic reticulum 1
extracellular 1
plasma membrane 1

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

GO ID Qualified GO term Evidence PubMed IDs
GO:0090575 RNA polymerase II transcription factor complex IDA 9312027
genes like me logo Genes that share ontologies with NKX2-5: view

Pathways & Interactions for NKX2-5 Gene

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

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

No data available for SIGNOR curated interactions for NKX2-5 Gene

Drugs & Compounds for NKX2-5 Gene

(3) Drugs for NKX2-5 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
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:

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 (x26.3), Heart - Atrial Appendage (x21.1), and Spleen (x4.6).

Protein differential expression in normal tissues from HIPED for NKX2-5 Gene

This gene is overexpressed in Heart (43.0) and Fetal heart (26.0).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with NKX2-5: view

Protein tissue co-expression partners for NKX2-5 Gene

- Elite partner

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
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
chimpanzee
(Pan troglodytes)
Mammalia NKX2-5 35
  • 99.28 (n)
  • 99.69 (a)
NKX2-5 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nkx2-5 35
  • 86.06 (n)
  • 87.42 (a)
oppossum
(Monodelphis domestica)
Mammalia NKX2-5 36
  • 72 (a)
OneToOne
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
tropical clawed frog
(Silurana tropicalis)
Amphibia nkx2-5 35
  • 64.63 (n)
  • 67.69 (a)
African clawed frog
(Xenopus laevis)
Amphibia nkx2.5-prov 35
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
VAR_003752 Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7)
rs28936670 - 173,235,011(-) AGCAG(C/T)GCAGC reference, missense
VAR_010117 Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7)
VAR_010118 Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7)
VAR_010119 Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7)

Variation tolerance for NKX2-5 Gene

Residual Variation Intolerance Score: 68.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.01; 37.03% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NKX2-5 Gene

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

MalaCards: The human disease database

(36) MalaCards diseases for NKX2-5 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
tetralogy of fallot
  • tetrology of fallot
ventricular septal defect 3
  • vsd3
hypothyroidism, congenital nongoitrous, 5
  • hypothyroidism, congenital, non-goitrous, 5
atrial septal defect 7, with or without av conduction defects
  • atrial septal defect 7, with or without atrioventricular conduction defects
hypoplastic left heart syndrome 2
  • hlhs2
- elite association - COSMIC cancer census association via MalaCards

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.
  • 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.
  • 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. {ECO:0000269 PubMed:14607454, ECO:0000269 PubMed:15810002}. 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.
  • 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.
  • 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.

Relevant External Links for NKX2-5

Genetic Association Database (GAD)
NKX2-5
Human Genome Epidemiology (HuGE) Navigator
NKX2-5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NKX2-5
genes like me logo Genes that share disorders with NKX2-5: view

No data available for Genatlas for NKX2-5 Gene

Publications for NKX2-5 Gene

  1. 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 67
  2. 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 23
  3. Assignment of cardiac homeobox gene CSX to human chromosome 5q34. (PMID: 7665173) Shiojima I. … Yazaki Y. (Genomics 1995) 2 3 23
  4. 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
  5. Genome-wide association study of PR interval. (PMID: 20062060) Pfeufer A. … Heckbert S.R. (Nat. Genet. 2010) 3 23

Products for NKX2-5 Gene

Sources for NKX2-5 Gene

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