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NKX2-3 Gene

protein-coding   GIFtS: 50
GCID: GC10P101292

NK2 Homeobox 3

(Previous names: NK-2 (Drosophila) homolog C, NK2 transcription factor related,...)
(Previous symbol: NKX2C)
  See NKX2-3-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 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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 dental caries. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000010.10  NC_018921.2  NT_030059.14  
Regulatory elements:
   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 Chromatin IP Primers for NKX2-3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: NKX23_HUMAN, Q8TAU0 (See protein sequence)
Recommended Name: Homeobox protein Nkx-2.3  
Size: 364 amino acids; 38406 Da
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: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See NKX2-3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_660328.2  
    ENSEMBL proteins: 
     ENSP00000342828  

    NKX2-3 Human Recombinant Protein Products:

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    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for NKX2-3

     
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    antibodies-online proteins for NKX2-3 (6 products) 

     
    antibodies-online peptides for NKX2-3

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    antibodies-online antibodies for NKX2-3 (11 products) 

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    antibodies-online kits for NKX2-3 (2 products) 


    (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 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


    Find genes that share domains with NKX2-3           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

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

         Gene Ontology (GO): 4 molecular function terms:    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--
         
    Find genes that share ontologies with NKX2-3           About GenesLikeMe


    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/body  hematopoietic system  homeostasis/metabolism  immune system  mortality/aging 
     respiratory system 

    Find genes that share phenotypes with NKX2-3           About GenesLikeMe

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

       genOway: Develop your customized and physiologically relevant rodent model for NKX2-3

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    Selected qRT-PCR 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
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    Predesigned siRNA for gene silencing in human, mouse, rat NKX2-3

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


    (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
    NKX23_HUMAN, Q8TAU0: Nucleus (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus3
    extracellular1

    Gene Ontology (GO): 2 cellular component terms:    About this table

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

    Find genes that share ontologies with NKX2-3           About GenesLikeMe


    (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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for NKX2-3
    Interactions:

        Search GeneGlobe Interaction Network for NKX2-3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 15)

    Selected Interacting proteins for NKX2-3 (Q8TAU03 ENSP000003428284) via UniProtKB, MINT, STRING, and/or I2D (see all 16)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CDX1P479023, ENSP000002316564I2D: score=1 STRING: ENSP00000231656
    GTF2A1LQ9UNN43, ENSP000003845974I2D: score=1 STRING: ENSP00000384597
    SRFP118313, ENSP000002653544I2D: score=1 STRING: ENSP00000265354
    ZNF212Q9UDV63, ENSP000003385724I2D: score=1 STRING: ENSP00000338572
    TLE3Q047263I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 22):    About this table

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

    Find genes that share ontologies with NKX2-3           About GenesLikeMe



    (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 NKX2-3 (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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
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    Block miRNA regulation of human, mouse, rat NKX2-3 using miScript Target Protectors
    Selected qRT-PCR 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
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    Primer
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    OriGene qPCR primer pairs and template standards for NKX2-3
    OriGene qSTAR qPCR primer pairs in human, mouse for NKX2-3
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat NKX2-3
      QuantiTect SYBR Green Assays in human, mouse, rat NKX2-3
      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:

    NM_145285 BC025788 AW074707 BI833798 BI837145 BI765919 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™, 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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    NKX2-3 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 6) fully expand
     
     Gut Tube (Gastrointestinal Tract)    fully expand to see all 2 entries
             Hindgut
     
     Smooth Muscle (Muscoskeletal System)
             Juxtaglomerular Cells Afferent Arteriole
     
     Endothelium (Cardiovascular System)
             Endothelial-like cells
     
     Umbilical Cord (Extraembryonic Tissues)
             Umbilical Arteries
     
     Kidney (Urinary System)
             Juxtaglomerular Cells Afferent Arteriole
    NKX2-3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NKX2-3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.243272
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    (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 NKX2-3 gene from Selected species (see all 15)    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)5
    NK2 homeobox 31
    88.46(n)1
    90.86(a)1
      19 (36.67 cM)5
    180891  NM_008699.21  NP_032725.11 
     436123255 
    chicken
    (Gallus gallus)
    Aves NKX2-66
    Gallus gallus NK2 homeobox 6 (NKX2-6), mRNA.
    60(a)
    1 ↔ 1
    22(1163640-1164119)
    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
    20(a)
    1 → many
    3R(17204701-17207692)
    worm
    (Caenorhabditis elegans)
    Secernentea ceh-286
    Protein CEH-28 (ceh-28) mRNA, complete cds
    33(a)
    1 → many
    X(13074682-13076092) WBGene00000450


    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)
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    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

    Find genes that share paralogs with NKX2-3           About GenesLikeMe



    (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 NKX2-3 (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
    Site Specific Mutation Identification with 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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 606727    OMIM disorders: --

    3 diseases for NKX2-3:    
    About MalaCards
    ulcerative colitis    dental caries    crohn's disease

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

    Find genes that share disorders with NKX2-3           About GenesLikeMe

    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

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    PubMed articles for NKX2-3 gene, integrated from 10 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. (PLoS Genet. 2012)
    2. Association between genome-wide association studies reported SNPs and pediatric-onset Crohn's disease in Canadian children. (PubMed id 20473688)1, 4 Amre D.K....Levy E. (Hum. Genet. 2010)
    3. Genetic analysis in a Dutch study sample identifies more ulcerative colitis susceptibility loci and shows their additive role in disease risk. (PubMed id 19861958)1, 4 Festen E.A....Weersma R.K. (Am. J. Gastroenterol. 2010)
    4. Genome-wide association identifies multiple ulcerative colitis susceptibility loci. (PubMed id 20228799)1, 4 McGovern D.P....Seielstad M. (Nat. Genet. 2010)
    5. Analysis of 39 Crohn's disease risk loci in Swedish inflammatory bowel disease patients. (PubMed id 19760754)1, 4 TAPrkvist L....Pettersson S. (Inflamm. Bowel Dis. 2010)
    6. Molecular reclassification of Crohn's disease by cluster analysis of genetic variants. (PubMed id 20886065)1, 4 Cleynen I....Vermeire S. (PLoS ONE 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. (World J. Gastroenterol. 2010)
    8. Positive association of genetic variants in the upstream region of NKX2-3 with Crohn's disease in Japanese patients. (PubMed id 18936107)1, 4 Yamazaki K....Hata A. (Gut 2009)
    9. Lack of association of NKX2-3, IRGM, and ATG16L1 inflammatory bowel disease susceptibility variants with celiac disease. (PubMed id 19683022)1, 4 Dema B....NA_A+ez C. (Hum. Immunol. 2009)
    10. Genetic risk profiling and prediction of disease course in Crohn's disease patients. (PubMed id 19422935)1, 4 Henckaerts L....Vermeire S. (Clin. Gastroenterol. Hepatol. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

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     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

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    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

    TryGeneCards Plus
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    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

    TryGeneCards Plus
    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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