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Aliases for NKX2-6 Gene

Aliases for NKX2-6 Gene

  • NK2 Homeobox 6 2 3 5
  • NKX2F 3 4
  • 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
  • CSX2 3
  • CTHM 3

External Ids for NKX2-6 Gene

Previous GeneCards Identifiers for NKX2-6 Gene

  • GC08M023616
  • GC08M022105
  • GC08M023559

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 Conotruncal Heart Malformations and Tricuspid Valve Disease. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity and sequence-specific DNA binding. An important paralog of this gene is NKX2-3.

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.

Additional gene information for NKX2-6 Gene

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

Genomics for NKX2-6 Gene

GeneHancer (GH) Regulatory Elements for NKX2-6 Gene

Promoters and enhancers for NKX2-6 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08I023706 Promoter 0.6 EPDnew 550.8 +0.0 9 0.1 EZH2 ENSG00000253471 NKX2-6 NKX3-1
GH08I023709 Enhancer 0.5 ENCODE 550.8 -0.4 -445 0.7 SP1 USF1 SUZ12 MAX USF2 EZH2 ENSG00000253471 NKX2-6
GH08I023708 Enhancer 0.4 ENCODE 550.8 +0.4 435 0.2 POLR2A SUZ12 EZH2 ENSG00000253471 NKX2-6 NKX3-1
GH08I023707 Enhancer 0.3 ENCODE 550.8 +0.3 275 0.2 EZH2 ENSG00000253471 NKX2-6 NKX3-1
GH08I023682 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 8.5 +23.8 23819 1.6 KLF17 MZF1 SIN3A DMAP1 ZNF48 RARA ZNF335 GLIS2 ZNF366 ZNF350 NKX3-1 NKX2-6 GC08M023649
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around NKX2-6 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the NKX2-6 gene promoter:

Genomic Locations for NKX2-6 Gene

Genomic Locations for NKX2-6 Gene
chr8:23,702,451-23,706,598
(GRCh38/hg38)
Size:
4,148 bases
Orientation:
Minus strand
chr8:23,559,964-23,564,111
(GRCh37/hg19)

Genomic View for NKX2-6 Gene

Genes around NKX2-6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NKX2-6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NKX2-6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

    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

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 & Families for NKX2-6 Gene

Gene Families for NKX2-6 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for NKX2-6 Gene

Suggested Antigen Peptide Sequences for NKX2-6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

A6NCS4

UniProtKB/Swiss-Prot:

NKX26_HUMAN :
  • Belongs to the NK-2 homeobox family.
Family:
  • Belongs to the NK-2 homeobox family.
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.

Phenotypes From GWAS Catalog for NKX2-6 Gene

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

GO ID Qualified GO term Evidence PubMed IDs
GO:0003700 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

Human Phenotype Ontology for NKX2-6 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NKX2-6 Gene

MGI Knock Outs for NKX2-6:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NKX2-6 gene
Compartment Confidence
nucleus 5
extracellular 1
cytoskeleton 1

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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for NKX2-6 Gene

Pathways & Interactions for NKX2-6 Gene

SuperPathways for NKX2-6 Gene

No Data Available

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:0007275 multicellular organism development IEA --
GO:0007507 heart development IEA --
GO:0008284 positive regulation of cell proliferation IEA,ISS --
genes like me logo Genes that share ontologies with NKX2-6: view

No data available for Pathways by source and SIGNOR curated interactions for NKX2-6 Gene

Drugs & Compounds for NKX2-6 Gene

No Compound Related Data Available

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 (x24.5), Heart - Atrial Appendage (x18.3), and Heart - Left Ventricle (x4.5).

Protein differential expression in normal tissues from HIPED for NKX2-6 Gene

This gene is overexpressed in Heart (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for NKX2-6 Gene



Protein tissue co-expression partners for NKX2-6 Gene

SOURCE GeneReport for Unigene cluster for NKX2-6 Gene:

Hs.532654

Evidence on tissue expression from TISSUES for NKX2-6 Gene

  • Heart(2.8)

Phenotype-based relationships between genes and organs from Gene ORGANizer for NKX2-6 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • lip
  • nose
  • outer ear
  • skull
Thorax:
  • aorta
  • heart
  • heart valve
Pelvis:
  • testicle
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • toe
  • upper limb
General:
  • blood
  • blood vessel
  • coagulation system
  • skin
genes like me logo Genes that share expression patterns with NKX2-6: view

No data available for mRNA Expression by UniProt/SwissProt for NKX2-6 Gene

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 33 34
  • 98.67 (n)
dog
(Canis familiaris)
Mammalia NKX2-6 33 34
  • 79.15 (n)
cow
(Bos Taurus)
Mammalia NKX2-6 33 34
  • 79.12 (n)
rat
(Rattus norvegicus)
Mammalia Nkx2-6 33
  • 74.96 (n)
mouse
(Mus musculus)
Mammalia Nkx2-6 33 16 34
  • 71.76 (n)
oppossum
(Monodelphis domestica)
Mammalia NKX2-6 34
  • 53 (a)
OneToOne
chicken
(Gallus gallus)
Aves NKX2-6 33
  • 63.81 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 78 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia nkx2-6 33
  • 60.78 (n)
zebrafish
(Danio rerio)
Actinopterygii nkx2.7 33 34
  • 54.97 (n)
fruit fly
(Drosophila melanogaster)
Insecta tin 34
  • 18 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ceh-28 34
  • 33 (a)
OneToMany
Species where no ortholog for NKX2-6 was found in the sources mined by GeneCards:
  • 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

Paralogs for NKX2-6 Gene

(11) 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 Variation AA Info Type
rs139466287 benign, Conotruncal heart malformations 23,706,416(-) G/A coding_sequence_variant, synonymous_variant
rs143039156 benign, Conotruncal heart malformations 23,702,971(-) G/T coding_sequence_variant, missense_variant
rs267606914 pathogenic, Persistent truncus arteriosus, Conotruncal heart malformations (CTHM) [MIM:217095] 23,702,906(-) A/G coding_sequence_variant, missense_variant
rs530501230 uncertain-significance, not specified, Conotruncal heart malformations 23,706,325(-) G/C/T coding_sequence_variant, missense_variant
rs576577900 uncertain-significance, Conotruncal heart malformations 23,706,478(-) A/T coding_sequence_variant, missense_variant

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

Variant ID Type Subtype PubMed ID
nsv1028341 CNV gain 25217958
nsv831269 CNV gain 17160897

Variation tolerance for NKX2-6 Gene

Gene Damage Index Score: 2.59; 44.98% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NKX2-6 Gene

Human Gene Mutation Database (HGMD)
NKX2-6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NKX2-6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NKX2-6 Gene

Disorders for NKX2-6 Gene

MalaCards: The human disease database

(29) MalaCards diseases for NKX2-6 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
conotruncal heart malformations
  • cthm
tricuspid valve disease
  • disease of tricuspid valve
ventricular septal defect
  • interventricular septal defect
pulmonary valve disease
  • pulmonary valve disorder
pulmonary valve insufficiency
  • pulmonary incompetence
- elite association - COSMIC cancer census association via MalaCards

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.

Additional Disease Information for NKX2-6

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

No data available for Genatlas for NKX2-6 Gene

Publications for NKX2-6 Gene

  1. Common arterial trunk associated with a homeodomain mutation of NKX2.6. (PMID: 15649947) Heathcote K … Syrris P (Human molecular genetics 2005) 2 3 4 58
  2. A novel NKX2.6 mutation associated with congenital ventricular septal defect. (PMID: 25380965) Wang J … Yang YQ (Pediatric cardiology 2015) 3 4 58
  3. Prevalence and spectrum of Nkx2.6 mutations in patients with congenital heart disease. (PMID: 25195019) Zhao L … Qiu XB (European journal of medical genetics 2014) 3 4 58
  4. Conotruncal malformations and absent thymus due to a deleterious NKX2-6 mutation. (PMID: 24421281) Ta-Shma A … Elpeleg O (Journal of medical genetics 2014) 3 4 58
  5. Beyond single-marker analyses: mining whole genome scans for insights into treatment responses in severe sepsis. (PMID: 22310353) Man M … Garcia JG (The pharmacogenomics journal 2013) 3 44 58

Products for NKX2-6 Gene

Sources for NKX2-6 Gene

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