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Aliases for NKX2-6 Gene

Aliases for NKX2-6 Gene

  • NK2 Homeobox 6 2 3
  • NKX2F 3 4
  • CSX2 3 6
  • NK2 Transcription Factor Related, Locus 6 (Drosophila) 2
  • NK2 Transcription Factor Related, Locus 6 3
  • Homeobox Protein NK-2 Homolog F 4
  • Homeobox Protein NK2 Homolog F 3
  • Tinman Paralog (Drosophila) 2
  • Homeobox Protein Nkx-2.6 3
  • Homeobox Protein NKX2.6 3
  • Tinman Paralog 3
  • NKX4-2 3
  • CTHM 3

External Ids for NKX2-6 Gene

Summaries for NKX2-6 Gene

Entrez Gene Summary for NKX2-6 Gene

  • This gene encodes a homeobox-containing protein that belongs to the NK-2 homeobox family. This protein is a vertebrate homolog of Drosophila homeobox-containing protein called 'tinman', which has been shown to be essential for development of the heart-like dorsal vessel. In conjunction with related gene, NKX2-5, this gene may play a role in both pharyngeal and cardiac embryonic development. Mutations in this gene are associated with persistent truncus arteriosus.[provided by RefSeq, Aug 2011]

GeneCards Summary for NKX2-6 Gene

NKX2-6 (NK2 Homeobox 6) is a Protein Coding gene. Diseases associated with NKX2-6 include truncus arteriosus and conotruncal heart malformations. 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 NKX2-5.

UniProtKB/Swiss-Prot for NKX2-6 Gene

  • Acts as a transcriptional activator (PubMed:15649947). In conjunction with NKX2-5, may play a role in both pharyngeal and cardiac embryonic development.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NKX2-6 Gene

Genomics for NKX2-6 Gene

Genomic Location for NKX2-6 Gene

Start:
23,702,451 bp from pter
End:
23,706,598 bp from pter
Size:
4,148 bases
Orientation:
Minus strand

Genomic View for NKX2-6 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NKX2-6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NKX2-6 Gene

Regulatory Elements for NKX2-6 Gene

Proteins for NKX2-6 Gene

  • Protein details for NKX2-6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A6NCS4-NKX26_HUMAN
    Recommended name:
    Homeobox protein Nkx-2.6
    Protein Accession:
    A6NCS4
    Secondary Accessions:

    Protein attributes for NKX2-6 Gene

    Size:
    301 amino acids
    Molecular mass:
    32121 Da
    Quaternary structure:
    No Data Available

neXtProt entry for NKX2-6 Gene

Proteomics data for NKX2-6 Gene at MOPED

Post-translational modifications for NKX2-6 Gene

No Post-translational modifications

Other Protein References for NKX2-6 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for NKX2-6 Gene

Domains for NKX2-6 Gene

Gene Families for NKX2-6 Gene

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

Protein Domains for NKX2-6 Gene

UniProtKB/Swiss-Prot:

NKX26_HUMAN
Domain:
  • Contains 1 homeobox DNA-binding domain.:
    • A6NCS4
Family:
  • Belongs to the NK-2 homeobox family.:
    • A6NCS4
genes like me logo Genes that share domains with NKX2-6: view

Function for NKX2-6 Gene

Molecular function for NKX2-6 Gene

UniProtKB/Swiss-Prot Function: Acts as a transcriptional activator (PubMed:15649947). In conjunction with NKX2-5, may play a role in both pharyngeal and cardiac embryonic development.

Gene Ontology (GO) - Molecular Function for NKX2-6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding --
GO:0003700 sequence-specific DNA binding transcription factor activity IDA 15649947
GO:0043565 sequence-specific DNA binding IEA --
genes like me logo Genes that share ontologies with NKX2-6: view
genes like me logo Genes that share phenotypes with NKX2-6: view

Animal Models for NKX2-6 Gene

MGI Knock Outs for NKX2-6:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for NKX2-6 Gene

Localization for NKX2-6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NKX2-6 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NKX2-6 Gene COMPARTMENTS Subcellular localization image for NKX2-6 gene
Compartment Confidence
nucleus 4

Gene Ontology (GO) - Cellular Components for NKX2-6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IC 15649947
genes like me logo Genes that share ontologies with NKX2-6: view

Pathways for NKX2-6 Gene

SuperPathways for NKX2-6 Gene

No Data Available

Interacting Proteins for NKX2-6 Gene

Gene Ontology (GO) - Biological Process for NKX2-6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IDA 15649947
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007507 heart development --
GO:0008284 positive regulation of cell proliferation ISS --
GO:0021854 hypothalamus development ISS --
genes like me logo Genes that share ontologies with NKX2-6: view

No data available for Pathways by source for NKX2-6 Gene

Transcripts for NKX2-6 Gene

mRNA/cDNA for NKX2-6 Gene

(1) REFSEQ mRNAs :
(0) Additional mRNA sequences :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for NKX2-6 Gene

NK2 homeobox 6:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for NKX2-6 Gene

No ASD Table

Relevant External Links for NKX2-6 Gene

GeneLoc Exon Structure for
NKX2-6
ECgene alternative splicing isoforms for
NKX2-6

Expression for NKX2-6 Gene

mRNA expression in normal human tissues for NKX2-6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NKX2-6 Gene

This gene is overexpressed in Minor Salivary Gland (24.5), Heart - Atrial Appendage (18.3), and Heart - Left Ventricle (4.5).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for NKX2-6 Gene

SOURCE GeneReport for Unigene cluster for NKX2-6 Gene Hs.532654

genes like me logo Genes that share expressions with NKX2-6: view

Orthologs for NKX2-6 Gene

This gene was present in the common ancestor of animals.

Orthologs for NKX2-6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NKX2-6 36
  • 98.67 (n)
  • 98.67 (a)
NKX2-6 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia NKX2-6 36
  • 79.12 (n)
  • 72.05 (a)
NKX2-6 37
  • 71 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NKX2-6 36
  • 79.15 (n)
  • 71.57 (a)
NKX2-6 37
  • 59 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nkx2-6 36
  • 71.76 (n)
  • 61.81 (a)
Nkx2-6 16
Nkx2-6 37
  • 54 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NKX2-6 37
  • 53 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nkx2-6 36
  • 74.96 (n)
  • 68.08 (a)
chicken
(Gallus gallus)
Aves NKX2-6 36
  • 63.81 (n)
  • 65.24 (a)
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 78 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia nkx2-6 36
  • 60.78 (n)
  • 61.85 (a)
zebrafish
(Danio rerio)
Actinopterygii nkx2.7 36
  • 54.97 (n)
  • 53.88 (a)
nkx2.7 37
  • 46 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta tin 37
  • 18 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ceh-28 37
  • 33 (a)
OneToMany
Species with no ortholog for NKX2-6:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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 NKX2-6 Gene

ENSEMBL:
Gene Tree for NKX2-6 (if available)
TreeFam:
Gene Tree for NKX2-6 (if available)

Paralogs for NKX2-6 Gene

Selected SIMAP similar genes for NKX2-6 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with NKX2-6: view

Variants for NKX2-6 Gene

Sequence variations from dbSNP and Humsavar for NKX2-6 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type MAF
rs747992 -- 23,705,436(-) TCGGC(A/G)TTCTC intron-variant
rs2228696 -- 23,706,742(-) AGCAT(A/G)GCCCA upstream-variant-2KB
rs2228697 -- 23,706,302(+) AGGAG(A/G)CAAGA intron-variant
rs3055447 -- 23,703,727(-) ttttt(-/GT)ttgtt intron-variant
rs6981710 -- 23,707,160(+) CGCGG(A/G)ATTTG upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for NKX2-6 Gene

Variant ID Type Subtype PubMed ID
nsv831269 CNV Gain 17160897

Relevant External Links for NKX2-6 Gene

HapMap Linkage Disequilibrium report
NKX2-6
Human Gene Mutation Database (HGMD)
NKX2-6

Disorders for NKX2-6 Gene

(1) OMIM Diseases for NKX2-6 Gene (611770)

UniProtKB/Swiss-Prot

NKX26_HUMAN
  • 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:15649947, ECO:0000269 PubMed:24421281, ECO:0000269 PubMed:25195019, ECO:0000269 PubMed:25380965}. Note=The disease may be caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for NKX2-6 Gene

Relevant External Links for NKX2-6

Genetic Association Database (GAD)
NKX2-6
genes like me logo Genes that share disorders with NKX2-6: view

Publications for NKX2-6 Gene

  1. Common arterial trunk associated with a homeodomain mutation of NKX2.6. (PMID: 15649947) Heathcote K. … Syrris P. (Hum. Mol. Genet. 2005) 2 3 4
  2. Beyond single-marker analyses: mining whole genome scans for insights into treatment responses in severe sepsis. (PMID: 22310353) Man M. … Garcia J.G. (Pharmacogenomics J. 2013) 3 49
  3. Conotruncal malformations and absent thymus due to a deleterious NKX2-6 mutation. (PMID: 24421281) Ta-Shma A. … Elpeleg O. (J. Med. Genet. 2014) 3 4
  4. Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. (PMID: 15146197) Brandenberger R. … Stanton L.W. (Nat. Biotechnol. 2004) 3 4
  5. DNA sequence and analysis of human chromosome 8. (PMID: 16421571) Nusbaum C. … Lander E.S. (Nature 2006) 4

Products for NKX2-6 Gene

Sources for NKX2-6 Gene

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