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

NKX2-3 Gene

protein-coding   GIFtS: 52
GCID: GC10P101292

NK2 Homeobox 3

(Previous names: NK-2 (Drosophila) homolog C, NK2 transcription factor related,...)
(Previous symbol: NKX2C)
Alzheimer's & Parkinson's Diseases Congress
  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)
About This Section

Aliases
NK2 Homeobox 31 2     NK2 Transcription Factor Related, Locus 3 (Drosophila)1
NKX2C1 2 3 5     NKX2.32
Homeobox Protein NK-2 Homolog C2 3     NKX4-32
CSX32 5     Homeobox Protein Nkx-2.32
NK2.32 5     NK2 Transcription Factor Related, Locus 32
NK-2 (Drosophila) Homolog C1     NKX233

External Ids:    HGNC: 78361   Entrez Gene: 1592962   Ensembl: ENSG000001199197   OMIM: 6067275   UniProtKB: Q8TAU03   

Export aliases for NKX2-3 gene to outside databases

Previous GC identifers: GC10P100185 GC10P100526 GC10P101423 GC10P100957 GC10P101282 GC10P094918


(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 NKX2-3 Gene:
This gene encodes a homeodomain-containing transcription factor. The encoded protein is a member of the NKX family
of homeodomain transcription factors. Studies of similar proteins in mouse and rat have indicated a potential
role in cellular differentiation.(provided by RefSeq, Mar 2010)

GeneCards Summary for NKX2-3 Gene: 
NKX2-3 (NK2 homeobox 3) is a protein-coding gene. Diseases associated with NKX2-3 include ulcerative colitis, and ankylosing spondylitis. GO annotations related to this gene include sequence-specific DNA binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is NKX2-1.

UniProtKB/Swiss-Prot: NKX23_HUMAN, Q8TAU0
Function: Transcription factor (By similarity)

Gene Wiki entry for NKX2-3 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000010.10  NC_018921.2  NT_030059.13  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the NKX2-3 gene promoter:
         E2F-4   E2F-3a   E2F-5   E2F-1   E2F   HSF2   E2F-2   Nkx2-5   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNKX2-3 promoter sequence
   Search SABiosciences Chromatin IP Primers for NKX2-3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NKX2-3


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

Entrez Gene cytogenetic band: 10q24.2   Ensembl cytogenetic band:  10q24.2   HGNC cytogenetic band: 10q24.2

NKX2-3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NKX2-3 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10P101292:  view genomic region     (about GC identifiers)

Start:
101,292,690 bp from pter      End:
101,296,281 bp from pter
Size:
3,592 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: NKX23_HUMAN, Q8TAU0 (See protein sequence)
Recommended Name: Homeobox protein Nkx-2.3  
Size: 364 amino acids; 38406 Da
Subcellular location: Nucleus (By similarity)
Sequence caution: Sequence=AAH25788.1; Type=Frameshift; Positions=273; Note=This frameshift is potential, but if
it is real then the sequence of residues 274-302 are lacking from the translated cDNA while this region does not
seem to correspond to an exon;
Secondary accessions: B4DUZ4 Q9NYS6

Explore the universe of human proteins at neXtProt for NKX2-3: NX_Q8TAU0

Explore proteomics data for NKX2-3 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8TAU0

  • NKX2-3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    NKX2-3 Protein Expression
    REFSEQ proteins: NP_660328.2  
    ENSEMBL proteins: 
     ENSP00000342828  

    Human Recombinant Protein Products for NKX2-3: 
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    Novus Biologicals NKX2-3 Proteins
    Novus Biologicals NKX2-3 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for NKX2-3 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--
    GO:0005634nucleus IEA--

    NKX2-3 for ontologies           About GeneDecksing



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    Cloud-Clone Corp. CLIAs for NKX2-3


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

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

    Graphical View of Domain Structure for InterPro Entry Q8TAU0

    ProtoNet protein and cluster: Q8TAU0

    1 Blocks protein domain: IPB000047 Lambda and other repressor helix-turn-helix signature

    UniProtKB/Swiss-Prot: NKX23_HUMAN, Q8TAU0
    Similarity: Belongs to the NK-2 homeobox family
    Similarity: Contains 1 homeobox DNA-binding domain


    NKX2-3 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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NKX23_HUMAN, Q8TAU0
    Function: Transcription factor (By similarity)

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0003677DNA binding ----
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0043565sequence-specific DNA binding IEA--
         
    NKX2-3 for ontologies           About GeneDecksing


    Phenotypes:
         11 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Nkx2-3):
     cardiovascular system  cellular  craniofacial  digestive/alimentary  endocrine/exocrine gland 
     growth/size  hematopoietic system  homeostasis/metabolism  immune system  mortality/aging 
     respiratory system 

    NKX2-3 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Nkx2-3Nkx2-tm1Hha for NKX2-3

       inGenious Targeting Laboratory - Custom generated mouse model solutions for NKX2-3 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for NKX2-3

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for NKX2-3 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for NKX2-3 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat NKX2-3
    8/11 QIAGEN miScript miRNA Assays for microRNAs that regulate NKX2-3 (see all 11):
    hsa-miR-142-3p hsa-miR-205 hsa-miR-92a hsa-miR-25 hsa-miR-367 hsa-miR-32 hsa-miR-20b* hsa-miR-486-5p
    SwitchGear 3'UTR luciferase reporter plasmidNKX2-3 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for NKX2-3
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    Gene Editing
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    Clone
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                         Customized lentivirus expression plasmids for stable overexpression of NKX2-3 

    Cell Line
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    Search LifeMap BioReagents cell lines for NKX2-3
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NKX2-3


    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for NKX2-3

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

    5/7 Interacting proteins for NKX2-3 (Q8TAU03 ENSP000003428284) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GTF2A1LQ9UNN43, ENSP000003845974I2D: score=1 STRING: ENSP00000384597
    SRFP118313, ENSP000002653544I2D: score=1 STRING: ENSP00000265354
    ZNF212Q9UDV63, ENSP000003385724I2D: score=1 STRING: ENSP00000338572
    CDX1P479023I2D: score=1 
    TLE3Q047263I2D: score=1 
    About this table

    Gene Ontology (GO): 5/22 biological process terms (GO ID links to tree view) (see all 22):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001776leukocyte homeostasis IEA--
    GO:0002317plasma cell differentiation IEA--
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006355regulation of transcription, DNA-dependent ----
    GO:0006641triglyceride metabolic process IEA--

    NKX2-3 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for NKX2-3 (NKX23)

    Search CenterWatch for drugs/clinical trials and news about NKX2-3 / NKX23

    (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,
    Conferences by KenesGroup, 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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for NKX2-3 gene: 
    NM_145285.2  

    Unigene Cluster for NKX2-3:

    NK2 homeobox 3
    Hs.243272  [show with all ESTs]
    Unigene Representative Sequence: NM_145285
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000344586(uc009xwj.3)

    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat NKX2-3
    8/11 QIAGEN miScript miRNA Assays for microRNAs that regulate NKX2-3 (see all 11):
    hsa-miR-142-3p hsa-miR-205 hsa-miR-92a hsa-miR-25 hsa-miR-367 hsa-miR-32 hsa-miR-20b* hsa-miR-486-5p
    SwitchGear 3'UTR luciferase reporter plasmidNKX2-3 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for NKX2-3
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    Clone
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    OriGene clones in human, mouse for NKX2-3 (see all 7)
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    GenScript: all cDNA clones in your preferred vector: NKX2-3 (NM_145285)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NKX2-3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NKX2-3
    Sirion Biotech Customized lentivirus for stable overexpression of NKX2-3 
                         Customized lentivirus expression plasmids for stable overexpression of NKX2-3 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for NKX2-3
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat NKX2-3
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NKX2-3

    Additional mRNA sequence: 

    AK300856.1 AK313485.1 BC025788.1 

    1 DOTS entry:

    DT.75140288 

    7 AceView cDNA sequences:

    BC025788 NM_145285 BI833798 BI765919 AW074707 BI837145 BI764885 

    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™, 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

    NKX2-3 expression in normal human tissues (normalized intensities)      NKX2-3 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAGGAGAGAA
    NKX2-3 Expression
    About this image


    NKX2-3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/7 selected tissues (see all 7) fully expand
     
     Gut Tube (Gastrointestinal Tract)    fully expand to see all 3 entries
             Hindgut
             Primitive gut tube-like cells ( A scalable, suspension protocol for derivation of...
     
     Smooth Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Juxtaglomerular Cells Afferent Arteriole
             Human Colonic Smooth Muscle Cells (HCoSMC)   
     
     Endothelium (Cardiovascular System)    fully expand to see all 2 entries
             PureStem endothelial Progenitor 30-SM2-3
             Endothelial-like cells ( Derivation and purification of endothelial precursor cells...
     
     Colon (Gastrointestinal Tract)
             Human Colonic Smooth Muscle Cells (HCoSMC)   
     
     Kidney (Urinary System)
             Juxtaglomerular Cells Afferent Arteriole

    See NKX2-3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NKX2-3

    SOURCE GeneReport for Unigene cluster: Hs.243272
        SABiosciences Custom PCR Arrays for NKX2-3
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NKX2-3

    (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 NKX2-3 gene from 4/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nkx2-31 , 5 NK2 transcription factor related, locus 3 (Drosophila)1, 5 88.46(n)1
    91.41(a)1
      19 (36.67 cM)5
    180891  NM_008699.21  NP_032725.11 
     436123255 
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.10462 Xenopus laevis XNkx-2.3 (allele XNkx-2.3b1) mRNA, complete more 79.71(n)    L38675.1 
    zebrafish
    (Danio rerio)
    Actinopterygii NM_131419.12   -- 76.29(n)   30694  NM_131419.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta tin6
    tinman
    18(a)
    1 → many
    3R(17204701-17207692)


    ENSEMBL Gene Tree for NKX2-3 (if available)
    TreeFam Gene Tree for NKX2-3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for NKX2-3 gene
    NKX2-12  NKX6-12  HMX32  TLX22  NKX3-12  TLX12  HMX22  NKX6-32  
    NKX3-22  NKX6-22  NKX2-62  NKX2-82  NKX2-52  NKX2-22  NKX2-42  HMX12  
    TLX32  
    6 SIMAP similar genes for NKX2-3 using alignment to 1 protein entry:     NKX23_HUMAN:
    NKX2-5    HLX    NKX2-4    NKX2-8    NKX2-6    NKX2-2

    NKX2-3 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) 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

    100/126 SNPs in NKX2-3 are shown (see all 126)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs57873501,2
    C--94921875(+) GGGCG-/AAGGAG 1 -- ut310--------
    rs1887192231,2
    C--101652609(+) TGCCCA/GAGCGC 1 -- us2k10--------
    rs1499939841,2
    C--101652758(+) ATGGC-/GGGGGTTC 1 -- cds10--------
    rs1142707251,2
    F--101652883(+) CAGGGG/ACTGCC 1 -- us2k11Minor allele frequency- A:0.02WA 118
    rs1417599781,2
    C--101652921(+) CAGAGA/CCCCGC 1 -- us2k10--------
    rs1807422291,2
    C--101652941(+) CTCCCA/GACAGG 1 -- us2k10--------
    rs99194901,2
    C--101652997(+) TGCGGG/TACCCG 1 -- us2k10--------
    rs752087651,2
    C--101653197(+) GGAACC/GGTTCC 1 -- us2k13Minor allele frequency- G:0.06CSA NA EA 242
    rs108833691,2
    C,F,A--101653261(+) GCGCCC/TGCTGC 1 -- us2k1 tfbs37Minor allele frequency- T:0.29NA WA CSA EA 366
    rs108833701,2
    C,F,A--101653366(+) GACTGC/TATAGA 1 -- us2k19Minor allele frequency- T:0.47NA WA CSA EA 369
    rs1854011631,2
    C--101653406(+) AAGGTA/GCCAGA 1 -- us2k10--------
    rs111901401,2
    C,F,A,H--101653487(+) ATAGGC/TGGAAA 1 -- us2k123Minor allele frequency- T:0.45NS EA NA WA CSA 2350
    rs580314241,2
    C--101653518(+) TCACCC/TCCCTT 1 -- us2k11Minor allele frequency- T:0.50WA 2
    rs1918943881,2
    C--101653550(+) AGTATA/GTGCCA 1 -- us2k10--------
    rs1841953371,2
    --101653598(+) CTGCTC/TGACCT 1 -- us2k10--------
    rs1151954401,2
    F--101653613(+) TACAGA/GAAAGC 1 -- us2k11Minor allele frequency- G:0.01WA 118
    rs1867271971,2
    --101653618(+) AAAAGC/TAGTCG 1 -- us2k10--------
    rs1139029001,2
    C,F--101653659(+) AGGCCG/CTGCAC 1 -- us2k11Minor allele frequency- C:0.50CSA 2
    rs1158858761,2
    F--101653760(+) AGAAAC/TGCCGA 1 -- us2k11Minor allele frequency- T:0.02WA 118
    rs1920847971,2
    --101653853(+) CTGTGA/CGGCTG 1 -- us2k10--------
    rs1404144331,2
    --101653929(+) GGGGCG/TACCAG 1 -- us2k10--------
    rs1441682771,2
    --101654145(+) CAAGTA/TGAAAA 1 -- us2k10--------
    rs1161665591,2
    C,F--101654157(+) GGACAT/CGTCGC 1 -- us2k11Minor allele frequency- C:0.02WA 118
    rs1477774441,2
    --101654193(+) CATCTC/TCTCGT 1 -- us2k10--------
    rs111901411,2
    C,F--101654284(+) CCTTCC/TCTGGC 1 -- us2k17Minor allele frequency- T:0.42NA WA CSA EA 365
    rs1175637301,2
    F--101654334(+) GTCGGG/AAAGGT 1 -- us2k11Minor allele frequency- A:0.03EA 120
    rs108833711,2
    C,F,A,H--101654349(+) CCACGA/CGGGAA 1 -- us2k1 tfbs328Minor allele frequency- C:0.47NS EA NA WA CSA 2779
    rs108833721,2
    C,F,A,H--101654377(+) GGATCA/TGTGCA 1 -- us2k17Minor allele frequency- T:0.49WA NA EA 368
    rs108833731,2
    C,F,A,H--101654378(+) GATCTA/GTGCAG 1 -- us2k120Minor allele frequency- G:0.47NS EA WA NA CSA 2344
    rs2007427121,2
    C--101654531(+) GCCCC-/CCCCCC 1 -- us2k10--------
    rs1829027901,2
    --101654534(+) CGCCCC/TCCCAA 1 -- us2k10--------
    rs1394857871,2
    --101654536(+) CCCCCA/CCAACG 1 -- us2k10--------
    rs1449126511,2
    C--101654551(+) GCAAAA/TCTCCC 1 -- us2k10--------
    rs1868529251,2
    --101654677(+) AAGCCC/GGACTC 1 -- ut510--------
    rs1917386401,2
    --101654678(+) AGCCCA/GACTCG 1 -- ut510--------
    rs1821055421,2
    --101654747(+) GCCGGA/GATTTA 1 -- ut510--------
    rs770507871,2
    C--101654898(+) GCACCA/CCTTCC 2 H P mis10--------
    rs2014296671,2
    C--101654927(+) TGGCCG/ACCGCT 2 /T /A mis11Minor allele frequency- A:0.00EU 1053
    rs412905041,2
    C,F--101654929(+) GCCGCC/AGCTGA 2 /A syn110Minor allele frequency- A:0.49NS NA WA CSA EA EU 1423
    rs1149752241,2
    C--101654991(+) GAAATT/GGTCCT 2 /W /L mis11Minor allele frequency- G:0.01WA 118
    rs1458872581,2
    C--101655022(+) GCAGAC/TGGCCA 2 D syn10--------
    rs79087041,2
    C,F,A,H--101655212(+) CCACAA/GACCTT 1 -- int111Minor allele frequency- G:0.49NA WA CSA EA 375
    rs78938401,2
    C,F,A,H--101655235(+) GCCCAC/TCCCTT 1 -- int110Minor allele frequency- T:0.49NA WA CSA EA 373
    rs1169136471,2
    C,F--101655253(+) TGGCTG/AGGGCC 1 -- int11Minor allele frequency- A:0.01EA 120
    rs2016776231,2
    --101655355(+) CTACT-/CCCCCC 1 -- int10--------
    rs79116801,2
    C,F,A,H--101655362(+) CCCCCC/AAAAGG 1 -- int1 trp36Minor allele frequency- A:0.47WA NA CSA 15
    rs1146936711,2
    C--101655377(+) AATGAA/GGGAAG 1 -- int10--------
    rs1131546881,2
    F--101655647(+) GGCCAA/GCTGGG 1 -- int10--------
    rs1858465751,2
    --101655683(+) GCTCAA/GCGTCC 1 -- int10--------
    rs8841441,2
    C,F,A,H--101655750(+) AATGTC/TTATTC 1 -- int132Minor allele frequency- T:0.10NS EA NA WA 3460
    rs779278891,2
    C,F--101655815(+) AACGTT/CTTGCT 1 -- int12Minor allele frequency- C:0.05NA EA 240
    rs1157030561,2
    F--101655879(+) TCTTGG/ACTGCT 1 -- int11Minor allele frequency- A:0.01WA 118
    rs1899700051,2
    --101655909(+) ATTGAC/TAGGGA 1 -- int10--------
    rs1141040621,2
    F--101656044(+) AAAATC/TGGCAT 1 -- int11Minor allele frequency- T:0.04WA 118
    rs1408407561,2
    C--101656137(+) TAAGC-/CACACAC 1 -- int10--------
    rs1919599751,2
    --101656306(+) TAGTTG/TCAAGC 1 -- int10--------
    rs122473681,2
    C,F--101656524(+) CAGCCA/CTTTAC 1 -- int11Minor allele frequency- C:0.05WA 118
    rs790119701,2
    C--101656600(+) CCGGGA/GACAGC 1 -- int10--------
    rs798735741,2
    C--101656710(+) CGAAGA/CCACGC 2 T P mis10--------
    rs1846013131,2
    C,F--101656745(+) TTCTCG/ACAAGC 2 /S syn11Minor allele frequency- A:0.01EU 663
    rs1134595531,2
    C,F--101656830(+) GCAGCC/TTGAAG 2 L syn13Minor allele frequency- T:0.04CSA WA EU 1405
    rs781228431,2
    C,F--101656859(+) AAAATC/ATGGTT 2 /I syn11Minor allele frequency- A:0.05WA 118
    rs1510539411,2
    C--101657350(+) CACCTG/TGCAGG 2 W L mis10--------
    rs1998638321,2
    C--101657550(-) TCCTCC/TTNNNN 1 -- ut310--------
    rs1413094841,2
    C--101657664(+) TAGGAC/TCCTGG 1 -- ut310--------
    rs8882081,2
    C,F,H--101657758(-) TGTTAT/CGTCCT 1 -- ut3118Minor allele frequency- C:0.24NS EA NA WA 2342
    rs79064961,2
    C,F--101657827(+) ACCGAT/CCCTCT 1 -- ut31 ese31Minor allele frequency- C:0.05WA 118
    rs1450681241,2
    C--101657869(+) CAGTCA/GATTTC 1 -- ut310--------
    rs1388030801,2
    C--101657894(+) TCCCCG/TCCGCA 1 -- ut310--------
    rs1419889591,2
    --101657916(+) GGTCCA/GGATCT 1 -- ut310--------
    rs1885703121,2
    C--101657924(+) TCTCCG/TGATTG 1 -- ut310--------
    rs789523351,2
    C,F--101657992(+) TGGGGG/AGAGGC 1 -- ut311Minor allele frequency- A:0.03EA 120
    rs1813692631,2
    C--101658035(+) GGTGTC/TACCGG 1 -- ut310--------
    rs1842607401,2
    --101658211(+) CCCAAA/GGAGTG 1 -- ds50010--------
    rs800971481,2
    C--101658312(+) ATGAGC/TCAGGC 1 -- ds50013Minor allele frequency- T:0.03CSA WA NA 239
    rs792548321,2
    C,F--101658333(+) AAGTCT/CGATCT 1 -- ds50011Minor allele frequency- C:0.04WA 118
    rs1896306901,2
    --101658371(+) TTTACG/TCTTGA 1 -- ds50010--------
    rs1821039371,2
    --101658402(+) TCAGGA/GCCATT 1 -- ds50010--------
    rs1872072711,2
    --101658495(+) TGCACC/TCTGCC 1 -- ds50010--------
    rs718626871,2
    ----101652847(+) TGGCC-/TCGCGC 1 -- us2k10--------
    rs2009657401,2
    ----101655362(+) CCCCC-/AAAAGG 1 -- int10--------
    rs100825111,2
    ----101657120(+) gccgcA/CgcAGC 2 A syn1 ese30--------
    rs1999630441,2
    ----101654919(+) CTGCAT/CGCTGG 2 /T /M mis11Minor allele frequency- C:0.00EU 985
    rs3689789201,2
    ----101654872(+) GGTGCA/GCACTT 2 A syn10--------
    rs3764393421,2
    ----101655468(+) CTCTTC/TCCCCG 1 -- int10--------
    rs3741768451,2
    ----101654954(+) CTGACA/GGAGGG 2 R G mis10--------
    rs599411551,2
    ----101657099(+) GCCGCC/GGCCGC 2 A syn10--------
    rs3742898791,2
    ----101655747(+) AACAAC/TTCTAT 1 -- int10--------
    rs3768882491,2
    ----101654858(+) ACCAGC/TACTTC 2 H Y mis10--------
    rs113406471,2
    ----101655150(+) GTAGA-/GGGGGA 1 -- int1 trp30--------
    rs3678584941,2
    ----101652688(+) GTCTCC/TGCCTG 1 -- us2k10--------
    rs1132268491,2
    ----101654210(+) AGCGCC/TCAGTA 1 -- us2k10--------
    rs3678211331,2
    ----101656667(+) GAGACG/TGCCGG 2 T syn10--------
    rs350374401,2
    ----101652846(+) GTGGC-/TCCGCG 1 -- us2k10--------
    rs1130053171,2
    ----101656559(+) AAAAAG/TGGTCA 1 -- int11Minor allele frequency- T:0.50CSA 2
    rs3742059701,2
    ----101657862(+) CATAGC/TACAGT 1 -- ut310--------
    rs3748714291,2
    ----101656733(+) CCCCGC/GGTCCT 2 R syn10--------
    rs2005095401,2
    ----101657037(+) TGGGCC/GCCAGC 2 P A mis10--------
    rs79067481,2
    ----101657987(+) GGGGGG/TGGGGG 1 -- ut310--------
    rs3701960401,2
    ----101654443(+) TGGTAC/GGCCGC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for NKX2-3 (101292690 - 101296281 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for NKX2-3:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv831958CNV Gain17160897


    Human Gene Mutation Database (HGMD): NKX2-3
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing NKX2-3
    DNA2.0 Custom Variant and Variant Library Synthesis for NKX2-3

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 606727    OMIM disorders: --

    10 diseases for NKX2-3:    About MalaCards
    ulcerative colitis    ankylosing spondylitis    pharyngitis    spondylitis
    crohn's disease    celiac disease    inflammatory bowel disease    alzheimer's disease
    colorectal cancer    endotheliitis

    2 diseases from the University of Copenhagen DISEASES database for NKX2-3:
    Crohn's disease     Ulcerative colitis

    NKX2-3 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    Genetic Association Database (GAD): NKX2-3
    Human Genome Epidemiology (HuGE) Navigator: NKX2-3 (17 documents)

    Export disorders for NKX2-3 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)
    About This Section

    PubMed articles for NKX2-3 gene, integrated from 9 sources (see all 41):
    (articles sorted by number of sources associating them with NKX2-3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci. (PubMed id 22412388)1, 4 Kenny E.E....Peter I. (2012)
    2. Association between genome-wide association studies r eported SNPs and pediatric-onset Crohn's disease in Canadian children. (PubMed id 20473688)1, 4 Amre D.K....Levy E. (2010)
    3. Genetic analysis in a Dutch study sample identifies m ore ulcerative colitis susceptibility loci and shows their additive role in dis ease risk. (PubMed id 19861958)1, 4 Festen E.A....Weersma R.K. (2010)
    4. Genome-wide association identifies multiple ulcerativ e colitis susceptibility loci. (PubMed id 20228799)1, 4 McGovern D.P....Weersma R.K. (2010)
    5. Analysis of 39 Crohn's disease risk loci in Swedish i nflammatory bowel disease patients. (PubMed id 19760754)1, 4 TAPrkvist L....Pettersson S. (2010)
    6. Molecular reclassification of Crohn's disease by clus ter analysis of genetic variants. (PubMed id 20886065)1, 4 Cleynen I....Vermeire S. (2010)
    7. NKX2-3 and IRGM variants are associated with disease susceptibility to IBD in Eastern European patients. (PubMed id 21049557)1, 4 Meggyesi N....Lakatos P.L. (2010)
    8. Lack of association of NKX2-3, IRGM, and ATG16L1 infl ammatory bowel disease susceptibility variants with celiac disease. (PubMed id 19683022)1, 4 Dema B....NA_A+ez C. (2009)
    9. Genetic Risk Profiling And Prediction Of Disease Course In Crohn'S Disease Patients. (PubMed id 19422935)1, 4 Henckaerts L....Vermeire S. (2009)
    10. Confirmation of multiple Crohn's disease susceptibility loci in a large Dutch-Belgian cohort. (PubMed id 19174780)1, 4 Weersma R.K....Vermeire S. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    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)
    About This Section
    Entrez Gene: 159296 HGNC: 7836 AceView: NKX2-3 Ensembl:ENSG00000119919 euGenes: HUgn159296
    ECgene: NKX2-3 H-InvDB: NKX2-3

    (According to HUGE)
    About This Section
      --

    (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 NKX2-3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for NKX2-3 gene:
    Search GeneIP for patents involving NKX2-3

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



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