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Aliases for NKX2-1 Gene

Aliases for NKX2-1 Gene

  • NK2 Homeobox 1 2 3
  • Thyroid Transcription Factor 1 2 3 4
  • NKX2A 3 4 6
  • TITF1 3 4 6
  • TTF1 3 4 6
  • Thyroid-Specific Enhancer-Binding Protein 3 4
  • Homeobox Protein NK-2 Homolog A 3 4
  • Thyroid Nuclear Factor 1 3 4
  • T/EBP 3 4
  • TTF-1 3 4
  • Homeobox Protein Nkx-2.1 3
  • NK-2 Homolog A 3
  • Benign Chorea 2
  • NKX2.1 3
  • NK-2 3
  • TEBP 3
  • BHC 3
  • BCH 3

External Ids for NKX2-1 Gene

Previous Symbols for NKX2-1 Gene

  • NKX2A
  • BCH
  • TITF1

Summaries for NKX2-1 Gene

Entrez Gene Summary for NKX2-1 Gene

  • This gene encodes a protein initially identified as a thyroid-specific transcription factor. The encoded protein binds to the thyroglobulin promoter and regulates the expression of thyroid-specific genes but has also been shown to regulate the expression of genes involved in morphogenesis. Mutations and deletions in this gene are associated with benign hereditary chorea, choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress, and may be associated with thyroid cancer. Multiple transcript variants encoding different isoforms have been found for this gene. This gene shares the symbol/alias 'TTF1' with another gene, transcription termination factor 1, which plays a role in ribosomal gene transcription. [provided by RefSeq, Feb 2014]

GeneCards Summary for NKX2-1 Gene

NKX2-1 (NK2 Homeobox 1) is a Protein Coding gene. Diseases associated with NKX2-1 include chorea, hereditary benign and choreoathetosis, hypothyroidism, and neonatal respiratory distress. Among its related pathways are Apoptotic Pathways in Synovial Fibroblasts and AHR Pathway (Qiagen). GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and transcription regulatory region DNA binding. An important paralog of this gene is NKX2-5.

UniProtKB/Swiss-Prot for NKX2-1 Gene

  • Transcription factor that binds and activates the promoter of thyroid specific genes such as thyroglobulin, thyroperoxidase, and thyrotropin receptor. Crucial in the maintenance of the thyroid differentiation phenotype. May play a role in lung development and surfactant homeostasis. Forms a regulatory loop with GRHL2 that coordinates lung epithelial cell morphogenesis and differentiation. Activates the transcription of GNRHR and plays a role in enhancing the circadian oscillation of its gene expression. Represses the transcription of the circadian transcriptional repressor NR1D1 (By similarity).

Gene Wiki entry for NKX2-1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NKX2-1 Gene

Genomics for NKX2-1 Gene

Genomic Location for NKX2-1 Gene

Start:
36,516,392 bp from pter
End:
36,521,149 bp from pter
Size:
4,758 bases
Orientation:
Minus strand

Genomic View for NKX2-1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NKX2-1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NKX2-1 Gene

Regulatory Elements for NKX2-1 Gene

Proteins for NKX2-1 Gene

  • Protein details for NKX2-1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P43699-NKX21_HUMAN
    Recommended name:
    Homeobox protein Nkx-2.1
    Protein Accession:
    P43699
    Secondary Accessions:
    • D3DSA3
    • O14954
    • O14955
    • Q7KZF6
    • Q9BRJ8

    Protein attributes for NKX2-1 Gene

    Size:
    371 amino acids
    Molecular mass:
    38596 Da
    Quaternary structure:
    • Interacts with WWTR1.
    SequenceCaution:
    • Sequence=AAH06221.2; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAA23527.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for NKX2-1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NKX2-1 Gene

Proteomics data for NKX2-1 Gene at MOPED

Post-translational modifications for NKX2-1 Gene

Other Protein References for NKX2-1 Gene

No data available for DME Specific Peptides for NKX2-1 Gene

Domains for NKX2-1 Gene

Gene Families for NKX2-1 Gene

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

Protein Domains for NKX2-1 Gene

Suggested Antigen Peptide Sequences for NKX2-1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P43699

UniProtKB/Swiss-Prot:

NKX21_HUMAN
Domain:
  • Contains 1 homeobox DNA-binding domain.:
    • P43699
Family:
  • Belongs to the NK-2 homeobox family.:
    • P43699
genes like me logo Genes that share domains with NKX2-1: view

Function for NKX2-1 Gene

Molecular function for NKX2-1 Gene

UniProtKB/Swiss-Prot Function: Transcription factor that binds and activates the promoter of thyroid specific genes such as thyroglobulin, thyroperoxidase, and thyrotropin receptor. Crucial in the maintenance of the thyroid differentiation phenotype. May play a role in lung development and surfactant homeostasis. Forms a regulatory loop with GRHL2 that coordinates lung epithelial cell morphogenesis and differentiation. Activates the transcription of GNRHR and plays a role in enhancing the circadian oscillation of its gene expression. Represses the transcription of the circadian transcriptional repressor NR1D1 (By similarity).

Gene Ontology (GO) - Molecular Function for NKX2-1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001047 core promoter binding ISS --
GO:0001161 intronic transcription regulatory region sequence-specific DNA binding ISS --
GO:0003677 DNA binding IMP 7635972
GO:0003700 sequence-specific DNA binding transcription factor activity IDA 16960125
GO:0003705 RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity IEA --
genes like me logo Genes that share ontologies with NKX2-1: view
genes like me logo Genes that share phenotypes with NKX2-1: view

Animal Models for NKX2-1 Gene

MGI Knock Outs for NKX2-1:

miRNA for NKX2-1 Gene

miRTarBase miRNAs that target NKX2-1
Targeting motifs for NKX2-1 Gene
HOMER Transcription Factor Regulatory Elements motif NKX2-1
  • Consensus sequence: RSCACTYRAG Submotif: canonical Cell Type: LungAC GeoId: GSE43252

No data available for Enzyme Numbers (IUBMB) and Transcription Factor Targeting for NKX2-1 Gene

Localization for NKX2-1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NKX2-1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NKX2-1 Gene COMPARTMENTS Subcellular localization image for NKX2-1 gene
Compartment Confidence
nucleus 5
cytoskeleton 2
cytosol 2
extracellular 1

Gene Ontology (GO) - Cellular Components for NKX2-1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 7713914
GO:0005654 nucleoplasm ISS --
GO:0005667 transcription factor complex IEA --
genes like me logo Genes that share ontologies with NKX2-1: view

Pathways for NKX2-1 Gene

genes like me logo Genes that share pathways with NKX2-1: view

Pathways by source for NKX2-1 Gene

Gene Ontology (GO) - Biological Process for NKX2-1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IEA --
GO:0001764 neuron migration IEA --
GO:0006355 regulation of transcription, DNA-templated --
GO:0006357 regulation of transcription from RNA polymerase II promoter --
GO:0006366 transcription from RNA polymerase II promoter IEA --
genes like me logo Genes that share ontologies with NKX2-1: view

Compounds for NKX2-1 Gene

(23) Novoseek inferred chemical compound relationships for NKX2-1 Gene

Compound -log(P) Hits PubMed IDs
b 723 62.3 11
iodide 57.9 12
mucicarmine 54.9 3
sodium iodide 54 2
paraffin 44.1 13
genes like me logo Genes that share compounds with NKX2-1: view

Transcripts for NKX2-1 Gene

Unigene Clusters for NKX2-1 Gene

NK2 homeobox 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for NKX2-1 Gene

No ASD Table

Relevant External Links for NKX2-1 Gene

GeneLoc Exon Structure for
NKX2-1
ECgene alternative splicing isoforms for
NKX2-1

Expression for NKX2-1 Gene

mRNA expression in normal human tissues for NKX2-1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NKX2-1 Gene

This gene is overexpressed in Thyroid (35.6) and Lung (12.7).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for NKX2-1 Gene

SOURCE GeneReport for Unigene cluster for NKX2-1 Gene Hs.94367

mRNA Expression by UniProt/SwissProt for NKX2-1 Gene

P43699-NKX21_HUMAN
Tissue specificity: Thyroid and lung
genes like me logo Genes that share expressions with NKX2-1: view

Orthologs for NKX2-1 Gene

This gene was present in the common ancestor of animals.

Orthologs for NKX2-1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NKX2-1 35
  • 99.5 (n)
  • 99.25 (a)
NKX2-1 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia LOC613713 35
  • 94.68 (n)
  • 97.03 (a)
NKX2-1 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nkx2-1 35
  • 92.63 (n)
  • 97.57 (a)
Nkx2-1 16
Nkx2-1 36
  • 98 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NKX2-1 36
  • 84 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nkx2-1 35
  • 92.18 (n)
  • 97.84 (a)
chicken
(Gallus gallus)
Aves NKX2-1 35
  • 76.58 (n)
  • 78.43 (a)
NKX2-1 36
  • 76 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NKX2-1 36
  • 73 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia titf1-A 35
tropical clawed frog
(Silurana tropicalis)
Amphibia nkx2-1 35
  • 73.22 (n)
  • 78.01 (a)
zebrafish
(Danio rerio)
Actinopterygii nkx2.1b 35
  • 68.41 (n)
  • 70.14 (a)
nkx2.1b 36
  • 73 (a)
OneToOne
titf1b 35
fruit fly
(Drosophila melanogaster)
Insecta scro 36
  • 34 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ceh-24 36
  • 32 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14238 35
sea squirt
(Ciona savignyi)
Ascidiacea CS-TTF1 36
  • 27 (a)
OneToMany
Species with no ortholog for NKX2-1:
  • 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)
  • dog (Canis familiaris)
  • 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 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 NKX2-1 Gene

ENSEMBL:
Gene Tree for NKX2-1 (if available)
TreeFam:
Gene Tree for NKX2-1 (if available)

Paralogs for NKX2-1 Gene

Selected SIMAP similar genes for NKX2-1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with NKX2-1: view

Variants for NKX2-1 Gene

Sequence variations from dbSNP and Humsavar for NKX2-1 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type MAF
rs5807883 -- 36,516,818(+) CCTTC(-/A)AAAAA utr-variant-3-prime
rs10139625 -- 36,517,068(+) TTTTT(A/T)AAAAA utr-variant-3-prime
rs11541293 -- 36,516,636(-) TTGGA(C/G)TAAAT utr-variant-3-prime
rs11541294 -- 36,516,801(-) GGGAG(C/G/T)TGGGG utr-variant-3-prime
rs12896888 -- 36,517,183(+) AAGTC(G/T)AAGCG utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for NKX2-1 Gene

Variant ID Type Subtype PubMed ID
nsv819045 CNV Gain 19587683
esv23132 CNV Loss 19812545

Relevant External Links for NKX2-1 Gene

HapMap Linkage Disequilibrium report
NKX2-1
Human Gene Mutation Database (HGMD)
NKX2-1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NKX2-1 Gene

Disorders for NKX2-1 Gene

(2) OMIM Diseases for NKX2-1 Gene (600635)

UniProtKB/Swiss-Prot

NKX21_HUMAN
  • Chorea, hereditary benign (BHC) [MIM:118700]: A rare autosomal dominant movement disorder, defined by early onset in childhood, a stable or non-progressive course of chorea, and no mental deterioration. Chorea is characterized by involuntary, forcible, rapid, jerky movements that may be subtle or become confluent, markedly altering normal patterns of movement. {ECO:0000269 PubMed:11971878, ECO:0000269 PubMed:15955952}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction (CAHTP) [MIM:610978]: An autosomal dominant disorder that manifests in infancy with neurological disturbances, hypothyroidism, and respiratory problems. It is characterized by movement abnormalities beginning with muscular hypotonia followed by the development of chorea, athetosis, dystonia, ataxia, and dysarthria. {ECO:0000269 PubMed:11854318, ECO:0000269 PubMed:11854319, ECO:0000269 PubMed:15289765, ECO:0000269 PubMed:24714694}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(97) Novoseek inferred disease relationships for NKX2-1 Gene

Disease -log(P) Hits PubMed IDs
chorea benign hereditary 92.2 11
adenocarcinoma lung 84.1 63
adenocarcinoma 80.6 201
thyroid ectopic 79.3 13
lung carcinoma 79.1 52

Relevant External Links for NKX2-1

Genetic Association Database (GAD)
NKX2-1
Human Genome Epidemiology (HuGE) Navigator
NKX2-1
genes like me logo Genes that share disorders with NKX2-1: view

Publications for NKX2-1 Gene

  1. Gene structure and expression of human thyroid transcription factor-1 in respiratory epithelial cells. (PMID: 7713914) Ikeda K. … Whitsett J.A. (J. Biol. Chem. 1995) 3 4 23
  2. Mutations in TITF-1 are associated with benign hereditary chorea. (PMID: 11971878) Breedveld G.J. … Heutink P. (Hum. Mol. Genet. 2002) 3 4 23
  3. Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency. (PMID: 11854319) Krude H. … Grueters A. (J. Clin. Invest. 2002) 3 4 23
  4. A novel TITF-1 mutation causes benign hereditary chorea with response to levodopa. (PMID: 15955952) Asmus F. … Gasser T. (Neurology 2005) 3 4 23
  5. A germline mutation (A339V) in thyroid transcription factor-1 (TITF-1/NKX2.1) in patients with multinodular goiter and papillary thyroid carcinoma. (PMID: 19176457) Ngan E.S. … Garcia-BarcelA^ M.M. (J. Natl. Cancer Inst. 2009) 3 23 48

Products for NKX2-1 Gene

Sources for NKX2-1 Gene

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