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Aliases for NKX2-1 Gene

Aliases for NKX2-1 Gene

  • NK2 Homeobox 1 2 3 5
  • Thyroid Transcription Factor 1 2 3 4
  • Thyroid-Specific Enhancer-Binding Protein 3 4
  • Homeobox Protein NK-2 Homolog A 3 4
  • Thyroid Nuclear Factor 1 3 4
  • NKX2A 3 4
  • TITF1 3 4
  • T/EBP 3 4
  • TTF-1 3 4
  • TTF1 3 4
  • NK-2 Homolog A 3
  • Benign Chorea 2
  • NKX2.1 3
  • NMTC1 3
  • NK-2 3
  • TEBP 3
  • BCH 3
  • BHC 3

External Ids for NKX2-1 Gene

Previous HGNC Symbols for NKX2-1 Gene

  • NKX2A
  • BCH
  • TITF1

Previous GeneCards Identifiers for NKX2-1 Gene

  • GC14M036056
  • GC14M036985
  • GC14M017100

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 Gene Expression and Transport to the Golgi and subsequent modification. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and enzyme binding. An important paralog of this gene is DLX5.

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

Regulatory Elements for NKX2-1 Gene

Genomic Location for NKX2-1 Gene

Chromosome:
14
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

Genes around NKX2-1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NKX2-1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NKX2-1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for NKX2-1 (NKX2-1)

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

Domains & Families for NKX2-1 Gene

Gene Families for NKX2-1 Gene

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 :
  • 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 NKX2-1: 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:0003700 transcription factor activity, sequence-specific DNA binding IMP,IDA 19176457
genes like me logo Genes that share ontologies with NKX2-1: view
genes like me logo Genes that share phenotypes with NKX2-1: view

Human Phenotype Ontology for NKX2-1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NKX2-1 Gene

MGI Knock Outs for NKX2-1:

Animal Model Products

CRISPR Products

Targeted motifs for NKX2-1 Gene
HOMER Transcription Factor Regulatory Elements motif NKX2-1
  • Consensus sequence: RSCACTYRAG Submotif: canonical Cell Type: LungAC GEO ID: GSE43252

No data available for Enzyme Numbers (IUBMB) and Transcription Factor Targets 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 2

No data available for Gene Ontology (GO) - Cellular Components for NKX2-1 Gene

Pathways & Interactions for NKX2-1 Gene

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

Pathways by source for NKX2-1 Gene

1 GeneGo (Thomson Reuters) pathway for NKX2-1 Gene

SIGNOR curated interactions for NKX2-1 Gene

Is activated by:

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

GO ID Qualified GO term Evidence PubMed IDs
GO:0001764 neuron migration IEA --
GO:0002016 regulation of blood volume by renin-angiotensin IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription from RNA polymerase II promoter IEA --
GO:0007389 pattern specification process IEA --
genes like me logo Genes that share ontologies with NKX2-1: view

Drugs & Compounds for NKX2-1 Gene

(14) Drugs for NKX2-1 Gene - From: Novoseek and ClinicalTrials

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Protein C Pharma 86
Pulmonary Surfactants Pharma 101
Respiratory System Agents Pharma 3931

(12) Additional Compounds for NKX2-1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

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 (x35.6) and Lung (x12.7).

Protein differential expression in normal tissues from HIPED for NKX2-1 Gene

This gene is overexpressed in Fetal heart (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with NKX2-1: view

Protein tissue co-expression partners for NKX2-1 Gene

In Situ Assay Products

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 36
  • 99 (a)
OneToOne
NKX2-1 35
  • 99.5 (n)
  • 99.25 (a)
cow
(Bos Taurus)
Mammalia NKX2-1 36
  • 97 (a)
OneToOne
LOC613713 35
  • 94.68 (n)
  • 97.03 (a)
mouse
(Mus musculus)
Mammalia Nkx2-1 16
Nkx2-1 35
  • 92.63 (n)
  • 97.57 (a)
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 36
  • 73 (a)
OneToOne
nkx2.1b 35
  • 68.41 (n)
  • 70.14 (a)
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

(2) 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
VAR_015188 Chorea, hereditary benign (BHC)
VAR_015189 Chorea, hereditary benign (BHC)
VAR_034906 Choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction (CAHTP)
VAR_073040 Choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction (CAHTP)
VAR_075209 Chorea, hereditary benign (BHC)

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

Variation tolerance for NKX2-1 Gene

Residual Variation Intolerance Score: 49% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.26; 25.25% of all genes are more intolerant (likely to be disease-causing)

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

MalaCards: The human disease database

(65) MalaCards diseases for NKX2-1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

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, ECO:0000269 PubMed:26723978}. 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.

Relevant External Links for NKX2-1

Genetic Association Database (GAD)
NKX2-1
Human Genome Epidemiology (HuGE) Navigator
NKX2-1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NKX2-1
genes like me logo Genes that share disorders with NKX2-1: view

No data available for Genatlas for NKX2-1 Gene

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 67
  2. Napsin A and thyroid transcription factor-1 expression in carcinomas of the lung, breast, pancreas, colon, kidney, thyroid, and malignant mesothelioma. (PMID: 19740516) Bishop J.A. … Illei P.B. (Hum. Pathol. 2010) 3 23
  3. Expression of thyroid transcription factor-1 in colorectal carcinoma. (PMID: 20042854) Xu B. … Khoury T. (Appl. Immunohistochem. Mol. Morphol. 2010) 3 23
  4. Utility of thyroid transcription factor-1 and CDX-2 in determining the primary site of metastatic adenocarcinomas in serous effusions. (PMID: 20518411) Kim J.H. … Choi C. (Acta Cytol. 2010) 3 23
  5. Clinical significance of TTF-1 protein expression and TTF-1 gene amplification in lung adenocarcinoma. (PMID: 19040416) Barletta J.A. … Chirieac L.R. (J. Cell. Mol. Med. 2009) 3 23

Products for NKX2-1 Gene

Sources for NKX2-1 Gene

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