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NKX2-1 Gene

protein-coding   GIFtS: 59
GCID: GC14M036985

NK2 Homeobox 1

(Previous names: benign chorea, thyroid transcription factor 1)
(Previous symbols: NKX2A, BCH, TITF1)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
NK2 Homeobox 11 2     TTF-12 3
NKX2A1 2 3 5     Benign Chorea1
TITF11 2 3 5     BHC2
Thyroid Transcription Factor 11 2 3     NK-22
TTF12 3 5     NKX2.12
BCH1 2     TEBP2
Homeobox Protein NK-2 Homolog A2 3     Homeobox Protein Nkx-2.12
Thyroid Nuclear Factor 12 3     NK-2 Homolog A2

External Ids:    HGNC: 118251   Entrez Gene: 70802   Ensembl: ENSG000001363527   OMIM: 6006355   UniProtKB: P436993   

Export aliases for NKX2-1 gene to outside databases

Previous GC identifers: GC14M036056 GC14M017100


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 pulmonary blastoma, and sarcomatoid mesothelioma. GO annotations related to this gene include transcription regulatory region DNA binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is NKX6-1.

UniProtKB/Swiss-Prot: NKX21_HUMAN, P43699
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

Gene Wiki entry for NKX2-1 (NK2 homeobox 1) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000014.9  NC_018925.2  NT_026437.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the NKX2-1 gene promoter:
         Max   Egr-1   STAT3   Nkx2-5   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNKX2-1 promoter sequence
   Search Chromatin IP Primers for NKX2-1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NKX2-1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 14q13   Ensembl cytogenetic band:  14q13.3   HGNC cytogenetic band: 14q13.3

NKX2-1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NKX2-1 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14M036985:  view genomic region     (about GC identifiers)

Start:
36,985,602 bp from pter      End:
36,990,354 bp from pter
Size:
4,753 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: NKX21_HUMAN, P43699 (See protein sequence)
Recommended Name: Homeobox protein Nkx-2.1  
Size: 371 amino acids; 38596 Da
Subunit: Interacts with WWTR1
Sequence caution: Sequence=AAH06221.2; Type=Erroneous initiation; Sequence=BAA23527.1; Type=Erroneous gene model
prediction;
Secondary accessions: D3DSA3 O14954 O14955 Q7KZF6 Q9BRJ8
Alternative splicing: 2 isoforms:  P43699-1   P43699-3   

Explore the universe of human proteins at neXtProt for NKX2-1: NX_P43699

Explore proteomics data for NKX2-1 at MOPED

Post-translational modifications: 

  • Phosphorylated on serine residues by STK3/MST2 (By similarity)1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See NKX2-1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001073136.1  NP_003308.1  

    ENSEMBL proteins: 
     ENSP00000346879   ENSP00000429607   ENSP00000428341   ENSP00000429519   ENSP00000449302  

    NKX2-1 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for NKX2-1
    OriGene Custom MassSpec
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    Novus Biologicals NKX2-1 Proteins
    Novus Biologicals NKX2-1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

    NKX2-1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of NKX2-1
    Browse R&D Systems for Antibodies
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    Abcam antibodies for NKX2-1
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    ThermoFisher Antibody for NKX2-1
    LSBio Antibodies in human, mouse, rat for NKX2-1

    NKX2-1 Assay Products:

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    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    NKL: Homeoboxes / ANTP class : NKL subclass

    4 InterPro protein domains:
     IPR020479 Homeobox_metazoa
     IPR017970 Homeobox_CS
     IPR001356 Homeobox_dom
     IPR009057 Homeodomain-like

    Graphical View of Domain Structure for InterPro Entry P43699

    ProtoNet protein and cluster: P43699

    UniProtKB/Swiss-Prot: NKX21_HUMAN, P43699
    Similarity: Belongs to the NK-2 homeobox family
    Similarity: Contains 1 homeobox DNA-binding domain


    NKX2-1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NKX21_HUMAN, P43699
    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

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IMP7635972
    GO:0003700sequence-specific DNA binding transcription factor activity IDA16960125
    GO:0003705RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity IEA--
    GO:0005515protein binding IPI11152647
    GO:0043565sequence-specific DNA binding IEA--
         
    NKX2-1 for ontologies           About GeneDecksing


    Phenotypes:
         14 MGI mutant phenotypes (inferred from 7 alleles(MGI details for Nkx2-1):
     behavior/neurological  cardiovascular system  cellular  digestive/alimentary  endocrine/exocrine gland 
     growth/size/body  homeostasis/metabolism  mortality/aging  nervous system  no phenotypic analysis 
     reproductive system  respiratory system  skeleton  tumorigenesis 

    NKX2-1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Nkx2-1Nkx2-tm1Shk for NKX2-1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NKX2-1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for NKX2-1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for NKX2-1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for NKX2-1

    Transcription Factor Targeting: 
    Targeting motifs: HOMER Transcription Factor Regulatory Elements motif viewer 
                                          Consensus sequence:  RSCACTYRAG 

    miRNA
    Products:
        
    miRTarBase miRNAs that target NKX2-1:
    hsa-let-7f-5p (MIRT032087)

    Block miRNA regulation of human, mouse, rat NKX2-1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate NKX2-1 (see all 23):
    hsa-miR-3149 hsa-miR-495 hsa-let-7a-2* hsa-miR-1273d hsa-let-7g* hsa-miR-186 hsa-miR-548x hsa-miR-23a
    SwitchGear 3'UTR luciferase reporter plasmidNKX2-1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for NKX2-1
    Predesigned siRNA for gene silencing in human, mouse, rat NKX2-1

    Gene Editing
    Products:
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 2): NKX2-1 (NM_001079668)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NKX2-1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NKX2-1

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for NKX2-1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NKX2-1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    NKX21_HUMAN, P43699: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytoskeleton2
    cytosol2
    extracellular1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA7713914
    GO:0005654nucleoplasm ISS--
    GO:0005667transcription factor complex IEA--

    NKX2-1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for NKX2-1 About    
    See pathways by source

    SuperPathContained pathways About
    1Cell adhesion Integrin mediated cell adhesion and migration
    Cell adhesion Tight junctions0.33
    2Neuroscience
    Neuroscience
    3FOXA2 and FOXA3 transcription factor networks
    FOXA2 and FOXA3 transcription factor networks

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    3 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for NKX2-1
        AHR Pathway
    Telomerase Components in Cell Signaling
    Glucocorticoid Receptor Signaling

    1 Cell Signaling Technology (CST) Pathway for NKX2-1
        Neuroscience

    1 GeneGo (Thomson Reuters) Pathway for NKX2-1
        Cell adhesion Tight junctions

    1 BioSystems Pathway for NKX2-1
        FOXA2 and FOXA3 transcription factor networks



    NKX2-1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including NKX2-1: 
              Lung Cancer in human mouse rat
              Diabetes in human mouse rat
              Homeobox (HOX) Genes in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for NKX2-1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for NKX2-1 (P436991, 2, 3 ENSP000003468794) via UniProtKB, MINT, STRING, and/or I2D (see all 41)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CCDC59Q9P0311, 3, ENSP000002561514EBI-1391923,EBI-1047110 I2D: score=1 STRING: ENSP00000256151
    NCK1P163331, 3, ENSP000002889864EBI-1391923,EBI-389883 I2D: score=1 STRING: ENSP00000288986
    PAX8Q067103, ENSP000003954984I2D: score=5 STRING: ENSP00000395498
    NCOA2Q155963, ENSP000003999684I2D: score=4 STRING: ENSP00000399968
    RARAP102763, ENSP000002540664I2D: score=4 STRING: ENSP00000254066
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 42):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IEA--
    GO:0001764neuron migration IEA--
    GO:0006355regulation of transcription, DNA-templated ----
    GO:0006357regulation of transcription from RNA polymerase II promoter ----
    GO:0006644phospholipid metabolic process IEA--

    NKX2-1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for NKX2-1 (NKX21)

    Selected Novoseek inferred chemical compound relationships for NKX2-1 gene (see all 23)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    b 723 62.3 14 16415794 (3), 12883236 (3), 14652817 (1), 12647218 (1) (see all 7)
    iodide 57.9 17 15271884 (2), 16076943 (2), 16042141 (1), 16584511 (1) (see all 10)
    mucicarmine 54.9 3 15551736 (2), 15239680 (1)
    sodium iodide 54 3 17199440 (1), 18682709 (1)
    paraffin 44.1 16 10976695 (1), 10374779 (1), 11668468 (1), 12194113 (1) (see all 13)
    2,4-dinitrophenol 38.4 25 16490937 (4), 10370019 (4), 12194113 (1), 12378441 (1)
    estrogen 37.4 37 20173733 (3), 12715337 (1), 15974816 (1), 16082256 (1) (see all 25)
    progesterone 31.2 25 15974816 (1), 19534622 (1), 18422977 (1), 16115055 (1) (see all 15)
    retinoic acid 19.9 13 11274148 (5), 11076796 (1), 12573987 (1), 15449938 (1) (see all 6)
    hematoxylin 19.9 4 15098009 (1), 16405409 (1), 18059234 (1)



    NKX2-1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for NKX2-1 gene (2 alternative transcripts): 
    NM_001079668.2  NM_003317.3  

    Unigene Cluster for NKX2-1:

    NK2 homeobox 1
    Hs.94367  [show with all ESTs]
    Unigene Representative Sequence: NM_003317
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000354822(uc001wtu.3 uc001wtv.3) ENST00000498187(uc001wtt.3)
    ENST00000518149 ENST00000522719 ENST00000546983
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate NKX2-1 (see all 23):
    hsa-miR-3149 hsa-miR-495 hsa-let-7a-2* hsa-miR-1273d hsa-let-7g* hsa-miR-186 hsa-miR-548x hsa-miR-23a
    SwitchGear 3'UTR luciferase reporter plasmidNKX2-1 3' UTR sequence
    Inhib. RNA
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    Clone
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NKX2-1
    Primer
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    OriGene qPCR primer pairs and template standards for NKX2-1
    OriGene qSTAR qPCR primer pairs in human, mouse for NKX2-1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat NKX2-1
      QuantiTect SYBR Green Assays in human, mouse, rat NKX2-1
      QuantiFast Probe-based Assays in human, mouse, rat NKX2-1

    Additional mRNA sequence: 

    BC006221.2 BT009773.1 D50740.1 U19756.1 U33749.1 U43203.1 X82850.1 

    5 DOTS entries:

    DT.213244  DT.100749639  DT.100749638  DT.95171565  DT.91987189 

    Selected AceView cDNA sequences (see all 125):

    CB850780 BM973864 AI458394 CA438683 CA311740 BM996453 CR600885 BC006221 
    AI458219 BE503651 CB852634 BU688334 CA502940 BC042093 BU682404 U19756 
    BM973315 AI698112 BE796718 AY102071 CR604190 BQ943821 AI954875 NM_003317 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    NKX2-1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCTCTGGACT
    NKX2-1 Expression
    About this image


    NKX2-1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 11) fully expand
     
     Neural Tube (Nervous System)    fully expand to see all 11 entries
             Anterior Entopeduncular Progenitor Cells Anterior Entopeduncular Area
             Telencephalon
             Lateral Ganglionic Eminence progenitors
     
     Lung (Respiratory System)    fully expand to see all 9 entries
             Multipotent Lung Progenitor Cells Ventral Foregut Endoderm
             Trachea
             Liquid-liquid interface differentiated cells
     
     Brain (Nervous System)    fully expand to see all 9 entries
             Anterior Entopeduncular Progenitor Cells Anterior Entopeduncular Area
             Striatum
             Ventral/hypothalamic-like neurons
     
     Gut Tube (Gastrointestinal Tract)    fully expand to see all 4 entries
             Multipotent Lung Progenitor Cells Ventral Foregut Endoderm
             Foregut
             Anterior foregut progenitor cells
     
     Epithelial Cells
             Clara Cells Respiratory Bronchioles
    NKX2-1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NKX2-1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.94367

    UniProtKB/Swiss-Prot: NKX21_HUMAN, P43699
    Tissue specificity: Thyroid and lung

        Pathway & Disease-focused RT2 Profiler PCR Arrays including NKX2-1: 
              Lung Cancer in human mouse rat
              Diabetes in human mouse rat
              Homeobox (HOX) Genes in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for NKX2-1
    OriGene qSTAR qPCR primer pairs in human, mouse for NKX2-1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat NKX2-1
    QuantiTect SYBR Green Assays in human, mouse, rat NKX2-1
    QuantiFast Probe-based Assays in human, mouse, rat NKX2-1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NKX2-1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for NKX2-1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nkx2-11 , 5 NK2 homeobox 11, 5 92.63(n)1
    97.57(a)1
      12 (24.42 cM)5
    218691  NM_001146198.11  NP_001139670.11 
     565319585 
    chicken
    (Gallus gallus)
    Aves NKX2-11 NK2 homeobox 1 76.58(n)
    78.43(a)
      395322  NM_204616.1  NP_989947.1 
    lizard
    (Anolis carolinensis)
    Reptilia NKX2-16
    NK2 homeobox 1
    73(a)
    1 ↔ 1
    1(24643577-24650302)
    African clawed frog
    (Xenopus laevis)
    Amphibia titf1-A2 thyroid transcription factor 1 78.8(n)    AF281080.1 
    zebrafish
    (Danio rerio)
    Actinopterygii titf1b2 thyroid transcription factor 1b 78.32(n)   81883  AF321112.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta scro6
    scarecrow
    34(a)
    1 → many
    3LHet(207493-252455)
    worm
    (Caenorhabditis elegans)
    Secernentea ceh-246
    Protein CEH-24 (ceh-24) mRNA, complete cds
    32(a)
    1 → many
    V(13813309-13815272) WBGene00000447


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for NKX2-1 gene
    NKX6-12  HMX32  TLX22  NKX3-12  TLX12  NKX2-32  HMX22  NKX6-32  
    NKX3-22  NKX6-22  NKX2-62  NKX2-82  NKX2-52  NKX2-22  NKX2-42  HMX12  
    TLX32  
    2 SIMAP similar genes for NKX2-1 using alignment to 2 protein entries:     NKX21_HUMAN (see all proteins):
    TTF-1    NKX2-4

    NKX2-1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for NKX2-1 (see all 29)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0349064
    Choreoathetosis, hypothyroidism, and neonatal respiratory distress (CHNRD)4--see VAR_0349062 V F mis40--------
    rs289366711,2,4
    Chorea, hereditary benign (BHC)4--see VAR_0151892 mis40--------
    rs289366721,2,4
    Chorea, hereditary benign (BHC)4--see VAR_0151882 mis40--------
    rs1404276921,2
    C--17100863(+) ACCCC-/CAAAGC 2 -- ut310--------
    rs1179574591,2
    F--17982635(+) CAAGAT/ACCTCC 2 -- int11Minor allele frequency- A:0.02NA 120
    rs1915421421,2
    --17982718(+) AGAATC/GTTTTT 2 -- ut310--------
    rs115412941,2
    F--17983103(-) GGGAGC/G/TTGGGG 4 -- ut310--------
    rs798499671,2
    C,F--17983145(+) GGTATT/GTACAA 2 -- ut311Minor allele frequency- G:0.02WA 118
    rs1441775611,2
    --17983207(+) AGTCCA/TGAGCC 2 -- ut310--------
    rs101396251,2
    C--17983373(+) TTTTTT/AAAAAA 2 -- ut31 trp34Minor allele frequency- A:0.35NA WA EA 360

    HapMap Linkage Disequilibrium report for NKX2-1 (36985602 - 36990354 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for NKX2-1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv23132CNV Loss19812545
    nsv819045CNV Gain19587683

    Human Gene Mutation Database (HGMD): NKX2-1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing NKX2-1
    DNA2.0 Custom Variant and Variant Library Synthesis for NKX2-1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 600635   
    OMIM disorders: 118700  610978  
    UniProtKB/Swiss-Prot: NKX21_HUMAN, P43699
  • 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. Note=The disease is caused by mutations affecting the gene represented in
    this entry
  • Choreoathetosis, hypothyroidism, and neonatal respiratory distress (CHNRD) [MIM:610978]: This syndrome
    include neurological, thyroid, and respiratory problems. Note=The disease is caused by mutations affecting the
    gene represented in this entry

  • Selected diseases for NKX2-1 (see all 113):    
    About MalaCards
    pulmonary blastoma    sarcomatoid mesothelioma    choreoathetosis, hypothyroidism, and neonatal respiratory distress    lentigo maligna melanoma
    pulmonary large cell neuroendocrine carcinoma    nkx2-1-related disorders    thyroid cancer    papillary serous adenocarcinoma
    bronchogenic cyst    merkel cell carcinoma    pulmonary sclerosing hemangioma    diffuse idiopathic pulmonary neuroendocrine cell hyperplasia
    sclerosing hemangioma    benign hereditary chorea    blastoma    large cell carcinoma
    lung adenocarcinoma    intestinal perforation    struma ovarii    chorea

    8 diseases from the University of Copenhagen DISEASES database for NKX2-1:
    Carcinoma     Lung cancer     Thyroid cancer     Merkel cell carcinoma
    Hypothyroidism     Benign mesothelioma     Struma ovarii     Hemangioma

    NKX2-1 for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for NKX2-1 gene (see all 97)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    chorea benign hereditary 92.2 13 15955952 (2), 11971878 (1), 16830318 (1), 19336474 (1) (see all 10)
    adenocarcinoma lung 84.1 87 19040416 (5), 18227018 (4), 19293183 (4), 15614737 (3) (see all 41)
    adenocarcinoma 80.6 310 19205414 (10), 15047742 (6), 16731609 (6), 17606426 (6) (see all 99)
    thyroid ectopic 79.3 17 9881907 (4), 9226207 (2), 9226206 (2), 19542741 (2) (see all 7)
    lung carcinoma 79.1 84 18071837 (7), 18227018 (5), 17062341 (4), 16680154 (3) (see all 30)
    congenital hypothyroidism 77.9 20 15289765 (2), 9881907 (2), 18379122 (2), 16042141 (1) (see all 13)
    small cell lung cancer 77.7 106 10757334 (5), 10976695 (5), 16084939 (5), 11175640 (5) (see all 41)
    carcinoma large cell 77.4 20 18227018 (4), 10374779 (2), 17062341 (2), 10632746 (2) (see all 11)
    carcinoma merkel cell 76.4 29 10665914 (5), 11175640 (5), 10728812 (3), 10976695 (2) (see all 9)
    metastatic carcinoma 76.3 29 12172048 (3), 11234300 (3), 16627262 (2), 15084379 (2) (see all 15)

    Genetic Association Database (GAD): NKX2-1
    Human Genome Epidemiology (HuGE) Navigator: NKX2-1 (9 documents)

    Export disorders for NKX2-1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for NKX2-1 gene, integrated from 10 sources (see all 713):
    (articles sorted by number of sources associating them with NKX2-1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Gene structure and expression of human thyroid transcription factor-1 in respiratory epithelial cells. (PubMed id 7713914)1, 2, 9 Ikeda K....Whitsett J.A. (J. Biol. Chem. 1995)
    2. TAZ is a coactivator for Pax8 and TTF-1, two transcription factors involved in thyroid differentiation. (PubMed id 19010321)1, 2, 9 Di Palma T.... Zannini M. (Exp. Cell Res. 2009)
    3. Transcription factor mutations and congenital hypothyroidism: systematic genetic screening of a population-based cohort of Japanese patients. (PubMed id 20157192)1, 4, 9 Narumi S....Hasegawa T. (J. Clin. Endocrinol. Metab. 2010)
    4. A novel TITF-1 mutation causes benign hereditary chorea with response to levodopa. (PubMed id 15955952)1, 2, 9 Asmus F.... Gasser T. (Neurology 2005)
    5. Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency. (PubMed id 11854319)1, 2, 9 Krude H....Grueters A. (J. Clin. Invest. 2002)
    6. A germline mutation (A339V) in thyroid transcription factor-1 (TITF-1/NKX2.1) in patients with multinodular goiter and papillary thyroid carcinoma. (PubMed id 19176457)1, 4, 9 Ngan E.S....Garcia-BarcelA^ M.M. (J. Natl. Cancer Inst. 2009)
    7. Mutations in TITF-1 are associated with benign hereditary chorea. (PubMed id 11971878)1, 2, 9 Breedveld G.J.... Heutink P. (Hum. Mol. Genet. 2002)
    8. A large-scale candidate gene association study of age at menarche and age at natural menopause. (PubMed id 20734064)1, 4 He C....Hunter D.J. (Hum. Genet. 2010)
    9. The variant rs1867277 in FOXE1 gene confers thyroid cancer susceptibility through the recruitment of USF1/USF2 transcription factors. (PubMed id 19730683)1, 4 Landa I....Robledo M. (PLoS Genet. 2009)
    10. Common variants on 9q22.33 and 14q13.3 predispose to thyroid cancer in European populations. (PubMed id 19198613)1, 4 Gudmundsson J....Stefansson K. (Nat. Genet. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 7080 HGNC: 11825 AceView: TITF1 Ensembl:ENSG00000136352 euGenes: HUgn7080
    ECgene: NKX2-1 H-InvDB: NKX2-1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for NKX2-1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for NKX2-1 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=NKX2-1[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for NKX2-1 gene:
    Search GeneIP for patents involving NKX2-1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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