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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

NKX2-1 Gene

protein-coding   GIFtS: 57
GCID: GC14M036985

NK2 homeobox 1

(Previous names: benign chorea, thyroid transcription factor 1 )
(Previous symbols: NKX2A, BCH, TITF1)
 Explore 119 diseases affiliated with
NKX2-1 via
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 Human Malady Compendium 
Biological research products
for NKX2-1    

Aliases
for NKX2-1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
NK2 Homeobox 11 2     Thyroid Nuclear Factor 12 3
NKX2A1 2 3 5     Benign Chorea1
TITF11 2 3 5     BHC2
TTF11 2 3 5     NK-22
Thyroid Transcription Factor 11 2 3     NKX2.12
TTF-11 2 3     TEBP2
BCH1 2     Homeobox Protein Nkx-2.12
Homeobox Protein NK-2 Homolog A2 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


Summaries
for NKX2-1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for NKX2-1:
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 'TFF1' with another gene, transcription termination factor 1, which plays a
role in ribosomal gene transcription. (provided by RefSeq, Apr 2011)

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)


Genomic Views
for NKX2-1 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000014.8  NC_018925.1  NT_026437.12  
Regulatory elements:
   SABiosciences 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 plasmid: NKX2-1 promoter sequence
   Search SABiosciences Chromatin IP Primers for NKX2-1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for NKX2-1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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
Subcellular location: Nucleus
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

Post-translational modifications:

  • Phosphorylated on serine residues by STK3/MST2 (By similarity)1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P43699

    • NKX2-1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000346879   ENSP00000429607   ENSP00000428341   ENSP00000429519   ENSP00000449302  

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    Uscn Proteins for NKX2-1

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005625soluble fraction ----
    GO:0005634nucleus IDA7713914
    GO:0005654nucleoplasm ISS--
    GO:0005667transcription factor complex IEA--


    NKX2-1 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for NKX2-1

    Protein Domains /
    Families
    for NKX2-1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    NKX2-1 for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR017970 Homeobox_CS
     IPR020479 Homeobox_metazoa
     IPR001356 Homeodomain
     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


    Function
    for NKX2-1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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

    miRNA
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    8/23 QIAGEN miScript miRNA 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 plasmid: NKX2-1 3' UTR sequence
    Inhib. RNA
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    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for NKX2-1

    Clone
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    Cell Line
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    In Situ Assay
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    Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IMP7635972
    GO:0003700sequence-specific DNA binding transcription factor activity IDA7559607
    GO:0003705RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity IEA--
    GO:0005515protein binding IPI17474147
    GO:0016563transcription activator activity ----


    NKX2-1 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Nkx2-1Nkx2-tm1Shk for NKX2-1
         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  homeostasis/metabolism  mortality/aging  nervous system  no phenotypic analysis 
     reproductive system  respiratory system  skeleton  tumorigenesis 

    NKX2-1 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for NKX2-1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Cell adhesion Tight junctions
    		Cell adhesion Tight junctions1.00
    		Cell adhesion_Tight junctions0.99
    2FOXA2 and FOXA3 transcription factor networks
    		FOXA2 and FOXA3 transcription factor networks1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for NKX2-1
        Cell adhesion Tight junctions


    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

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for NKX2-1

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

    5/35 Interacting proteins for NKX2-1 (P436991, 2, 3 ENSP000003468794) via UniProtKB, MINT, STRING, and/or I2D (see all 35)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CCDC59Q9P0311, 3, ENSP000002561514EBI-1391923,EBI-1047110 I2D: score=1 STRING: ENSP00000256151
    NCK1P163331, 3, ENSP000002889864EBI-1391923,EBI-3448658 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): 5/49 biological process terms (GO ID links to tree view) (see all 49):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IEA--
    GO:0001764neuron migration IEA--
    GO:0002016regulation of blood volume by renin-angiotensin ----
    GO:0006351transcription, DNA-dependent ----
    GO:0006355regulation of transcription, DNA-dependent ----


    NKX2-1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for NKX2-1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    NKX2-1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for NKX2-1
    10/23 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about NKX2-1 / NKX21 

    Transcripts
    for NKX2-1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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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    8/23 QIAGEN miScript miRNA 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 plasmid: NKX2-1 3' UTR sequence
    Inhib. RNA
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    Additional cDNA sequence: 

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

    4 DOTS entries:

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

    24/125 AceView cDNA sequences (see all 125):

    BU688334 BM973315 AI698112 CR600885 CB852634 AI954875 BM996453 BE796718 
    CR604190 AY102071 NM_003317 BC042093 CA502940 BM973864 CA311740 BE503651 
    U19756 BQ943821 BC006221 CB850780 CA438683 AI458219 AI458394 BM970287 

    GeneLoc Exon Structure


    Expression
    for NKX2-1 gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    NKX2-1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GCTCTGGACT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    NKX2-1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10/14 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 14) 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Gut TubeVentral Foregut EndodermMultipotent Lung Progenitor CellsLung
    Gut TubeVentral Foregut EndodermVentral Foregut Endoderm CellsEndoderm
    LungAlveoliAlveolar Epithelial Type 2 CellsLung
    LungLung BudDistal Lung Progenitor CellsLung
    LungRespiratory BronchiolesClara CellsLung
    LungTracheaClara CellsLung
    LungTracheaTrachea Progenitor CellsLung
    Neural TubeProsencephalonMedial Hinge Point CellsNeural Ectoderm
    Neural TubeProsencephalonNeural Fold CellsNeural Ectoderm
    BrainBlood Brain BarrierEndothelial CellsBlood Brain Barrier, Endothelium
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 9 LifeMap Cells 
    NameCategory
    Lateral Ganglionic Eminence progenitors (Generation of forebr...)
    Early proximal lung progenitors (Directed differentia...)
    Anterior foregut progenitor cells (Directed differentia...)
    Nkx2-1 GFP+ cells (Efficient derivation...)
    Liquid-liquid interface differentiated cells (Derivation of lung e...)
    N2/LSB/S/F8-induced cells (Generation of midbra...)
    Ventral/hypothalamic-like neurons (Generation of midbra...)
    N2/LSB/S/F8/CHIR-induced cells (Generation of midbra...)
    Primitive gut tube-like cells (A scalable, suspensi...)

    See NKX2-1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NKX2-1

    SOURCE GeneReport for Unigene cluster: Hs.94367

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

        SABiosciences Expression via Pathway-Focused PCR Arrays including NKX2-1: 
              Lung Cancer in human mouse rat
              Diabetes in human mouse rat
              Homeobox (HOX) Genes in human mouse rat

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    In Situ
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    Orthologs
    for NKX2-1 gene

    (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)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for NKX2-1 gene from 6/18 species (see all 18)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves NKX2-11 NK2 homeobox 1 79.98(n)
    81.92(a)    		   395322  NM_204616.1  NP_989947.1 
    lizard
    (Anolis carolinensis)    		 Reptilia NKX2-16
    NKX2-46
    		 --
    		 67(a)
    37(a)
    		 possible ortholog
    possible ortholog
    		 1(24643978-24650302)
    LGf(4247662-4251929)
    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 scro1 scarecrow 50.36(n)
    54.01(a)    		   3355151  NM_001015473.2  NP_001015473.1 
    worm
    (Caenorhabditis elegans)    		 Secernentea ceh-246
    		 Homeobox protein ceh-24
    		 25(a)
    		 possible ortholog
    		 V(13813295-13815258)


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

    Paralogs
    for NKX2-1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for NKX2-1 gene
    HMX32  LBX22  TLX22  NKX3-12  TLX12  NKX2-32  HMX22  NKX3-22  
    NKX2-62  NKX2-82  NKX2-52  LBX12  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



    Genomic Variants
    for NKX2-1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/97 NCBI SNPs in NKX2-1 are shown (see all 97)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 14 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs798499671,2
    		C,F,--17100720(+) GGTATT/GTACAA 2 -- ut311Minor allele frequency- G:0.02WA 118
    rs20767361,2
    		H,--17101932(-) GGCGCC/AGTCGG 2 -- int12Minor allele frequency- A:0.03EA NS 160
    rs1148140821,2
    		C,F,--17102521(+) GAGGTC/TTTCTG 2 -- int11Minor allele frequency- T:0.03WA 118
    rs1124489371,2
    		C,--17102719(+) CCTGCC/TGGCGC 2 -- int11Minor allele frequency- T:0.50WA 2
    rs562497331,2
    		C,--17104205(+) AGCTCG/AGGGGT 2 -- us2k11Minor allele frequency- A:0.50NA 2
    rs797813821,2
    		F,--17104301(+) CCAGAG/TCTGGG 2 -- us2k11Minor allele frequency- T:0.13EA 120
    rs782718591,2
    		F,--17105035(+) GACTCC/TGGTTT 2 -- us2k11Minor allele frequency- T:0.03WA 118
    rs48993511,2
    		C,H,--17105442(+) CCTACC/GTTCTT 2 -- us2k16Minor allele frequency- G:0.00NS EA NA 420
    rs125881111,2
    		H--17105672(+) TGATCA/CCTGTG 1 -- us2k14Minor allele frequency- C:0.00NS EA 404
    rs743645061,2
    		F,--17105703(+) GGCGAC/GGCCGG 1 -- us2k11Minor allele frequency- G:0.03NA 120

    HapMap Linkage Disequilibrium report for NKX2-1 (36985602 - 36990354 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for NKX2-1
         2 CNVs: 66622 58670
    Human Gene Mutation Database (HGMD): NKX2-1

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing NKX2-1
    DNA2.0 Custom Variant and Variant Library Synthesis for NKX2-1

    Disorders / Diseases
    for NKX2-1 gene

    (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.)
    About This Section
    NKX2-1 for disorders           About GeneDecksing

    OMIM gene information: 600635   
    OMIM disorders: 118700  610978  
    UniProtKB/Swiss-Prot: NKX21_HUMAN, P43699
  • Defects in NKX2-1 are the cause of benign hereditary chorea (BHC) [MIM:118700]; also known as hereditary
    • chorea without dementia. BHC is an autosomal dominant movement disorder. The early onset of symptoms (usully before
    the age of 5) and the observation that in some BHC families the symptoms tend to decrease in adulthood suggests that
    the disorder results from a developmental disturbance of the brain. BHC is non-progressive and patients have normal or
    slightly below normal intelligence. There is considerable inter- and intrafamilial variability, including dysarthria,
    axial distonia and gait disturbances
  • Defects in NKX2-1 are the cause of choreoathetosis, hypothyroidism, and neonatal respiratory distress (CHNRD)
    • [MIM:610978]. This syndrome include neurological, thyroid, and respiratory problems

    20/119 diseases for NKX2-1 (see all 119):    About MalaCards
    chorea    benign hereditary chorea    thyroiditis    goiter, familial, due to ttf-1 defect
    choreoathetosis    congenital hypothyroidism    choreoathetosis, hypothyroidism, and neonatal respiratory distress    hypothyroidism
    struma ovarii    thyroid cancer    diffuse idiopathic pulmonary neuroendocrine cell hyperplasia    adult-onset still's disease
    lentigo maligna melanoma    myoclonus-dystonia    dna topoisomerase ii    non-small cell lung carcinoma
    pulmonary large cell neuroendocrine carcinoma    sclerosing hemangioma    congenital diaphragmatic hernia    pulmonary blastoma

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

    10/97 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: NKX2-1 (9 documents)

    Export disorders for NKX2-1 gene to outside databases

    Publications
    for NKX2-1 gene

    (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)
    About This Section

    PubMed articles for NKX2-1 gene, integrated from 9 sources (see all 684):
    (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. (1995)
    2. A novel TITF-1 mutation causes benign hereditary chorea with response to levodopa. (PubMed id 15955952)1, 2, 9 Asmus F.... Gasser T. (2005)
    3. Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency. (PubMed id 11854319)1, 2, 9 Krude H....Grueters A. (2002)
    4. Mutations in TITF-1 are associated with benign hereditary chorea. (PubMed id 11971878)1, 2, 9 Breedveld G.J.... Heutink P. (2002)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    6. Partial deficiency of thyroid transcription factor 1 produces predominantly neurological defects in humans and mice. (PubMed id 11854318)1, 2 Pohlenz J.... Refetoff S. (2002)
    7. Structure of the human Nkx2.1 gene. (PubMed id 9545595)1, 2 Hamdan H.... Minoo P. (1998)
    8. Cloning and sequence analysis of human thyroid transcription factor 1. (PubMed id 7711080)1, 2 Saiardi A.... Civitareale D. (1995)
    9. The complete nucleotide sequence of the mouse thyroid-specific enhancer-binding protein (T/EBP) gene: extensive identity of the deduced amino acid sequence with the human protein. (PubMed id 7711079)1, 2 Oguchi H.... Kimura S. (1995)
    10. Thyroid nuclear factor 1 (TTF-1) contains a homeodomain and displays a novel DNA binding specificity. (PubMed id 1976511)1, 3 Guazzi S....Di Lauro R. (1990)

    External Searches for NKX2-1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing NKX2-1 gene

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

    Other Databases showing NKX2-1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing NKX2-1 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for NKX2-1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/NKX2-1

    Intellectual Property
    for NKX2-1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		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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