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

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)
 Explore 9 diseases affiliated with
NKX2-3 via our new
 Human Malady Compendium 
Biological research products
for NKX2-3
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
NK2 Homeobox 31 2     NK2.32 5
NKX2C1 2 3 5     NK-2 (Drosophila) Homolog C1
CSX31 2 5     NK2 Transcription Factor Related, Locus 3 (Drosophila)1
NKX2.31 2     Homeobox Protein Nkx-2.32
NKX4-31 2     NK2 Transcription Factor Related, Locus 32
Homeobox Protein NK-2 Homolog C2 3     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:
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)

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

Gene Wiki entry for NKX2-3


(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_000010.10  NC_018921.1  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 chromosome: 10

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, 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: 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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8TAU0

  • NKX2-3 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_660328.2  
    ENSEMBL proteins: 
     ENSP00000342828  

    Human Recombinant Protein Products: 
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    Novus Biologicals NKX2-3 Lysate
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    Browse ProSpec Recombinant Proteins
    Uscn 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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    Uscn ELISAs and CLIAs for NKX2-3


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    NKX2-3 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 Q8TAU0

    ProtoNet protein and cluster: Q8TAU0

    1 Blocks protein family: 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


    (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: NKX23_HUMAN, Q8TAU0
    Function: Transcription factor (By similarity)

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

    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0043565sequence-specific DNA binding IEA--


    NKX2-3 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Nkx2-3Nkx2-tm1Hha for NKX2-3
         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


    (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



    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): 5/21 biological process terms (GO ID links to tree view) (see all 21):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001776leukocyte homeostasis IEA--
    GO:0002317plasma cell differentiation IEA--
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006641triglyceride metabolic process IEA--
    GO:0006955immune response ----


    NKX2-3 for ontologies           About GeneDecksing



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

    Browse Tocris compounds for NKX2-3
    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 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 NKX2-3 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)

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    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
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    Inhib. RNA
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    NM_145285 (human cat#: SC317582)  NM_145285 (human cat#: SC108072)  
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    Primer
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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 cDNA sequence: 

    AK300856.1 AK313485.1 BC025788.1 

    1 DOTS entry:

    DT.75140288 

    7 AceView cDNA sequences:

    BC025788 NM_145285 BI764885 AW074707 BI765919 BI837145 BI833798 

    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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AAGGAGAGAA

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

    About this image

    NKX2-3 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    5 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Gut TubeHindgutHindgut Endoderm CellsEndoderm
    Gut TubeMidgutMidgut Endoderm CellsEndoderm
    BoneMandibular ProcessBone
    Gut TubeHindgutGut Tube
    Gut TubeMidgutGut Tube
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 2 LifeMap Cells 
    NameCategory
    PureStem™ endothelial Progenitor 30-SM2-3 (Embryonic Progenitor Cell)Blood, Endothelium
    Primitive gut tube-like cells (A scalable, suspensi...)

    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
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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 5/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    lizard
    (Anolis carolinensis)
    Reptilia NKX2-36
    --
    85(a)
    1 ↔ 1
    3(38400551-38400946)
    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
    17(a)
    1 → many
    3R(17204701-17207692)
    worm
    (Caenorhabditis elegans)
    Secernentea ceh-286
    Homeobox family member (ceh-28)
    26(a)
    1 → many
    X(13074613-13076023)


    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  HMX32  LBX22  TLX22  NKX3-12  TLX12  HMX22  NKX3-22  
    NKX2-62  NKX2-82  NKX2-52  LBX12  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, 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

    10/100 NCBI SNPs in NKX2-3 are shown (see all 100    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs99194901,2
    C--94917324(+) TGCGGG/TACCCG 1 -- us2k10--------
    rs580314241,2
    C,--94917845(+) TCACCC/TCCCTT 1 -- us2k11Minor allele frequency- T:0.50WA 2
    rs1139029001,2
    --94917986(+) AGGCCG/CTGCAC 1 -- us2k11Minor allele frequency- C:0.50CSA 2
    rs1161665591,2
    C,F,--94918484(+) GGACAT/CGNNNN 1 -- us2k11Minor allele frequency- C:0.02WA 118
    rs770507871,2
    C,--94919225(+) GCACCA/CCTTCC 2 H P mis10--------
    rs1131546881,2
    --94919974(+) GGCCAA/GCTGGG 1 -- int10--------
    rs122473681,2
    C,F,--94920851(+) CAGCCA/CTTTAC 1 -- int11Minor allele frequency- C:0.05WA 118
    rs790119701,2
    C,--94920927(+) CCGGGA/GACAGC 1 -- int10--------
    rs1998638321,2
    C--94921877(-) TCCTCC/TTNNNN 1 -- ut310--------
    rs79064961,2
    C,F,--94922154(+) ACCGAT/CCCTCT 1 -- ut31 ese31Minor allele frequency- C:0.05WA 118

    HapMap Linkage Disequilibrium report for NKX2-3 (101292690 - 101296281 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for NKX2-3: --
    Human Gene Mutation Database (HGMD): NKX2-3

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat 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

    NKX2-3 for disorders           About GeneDecksing

    OMIM gene information: 606727    OMIM disorders: --

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

    2 diseases from the University of Copenhagen DISEASES database for NKX2-3:
    Crohn's disease     Ulcerative colitis
    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 38):
    (articles sorted by number of sources associating them with NKX2-3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)1, 2 Deloukas P.... Rogers J. (2004)
    3. PTPN2 is associated with Crohn's disease and its expre ssion is regulated by NKX2-3. (PubMed id 22377701)1 Yu W....Lin Z. (2012)
    4. A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci. (PubMed id 22412388)1 Kenny E.E....Peter I. (2012)
    5. Genes differentially regulated by NKX2-3 in B cells be tween ulcerative colitis and Crohn's disease patients and possible involvement o f EGR1. (PubMed id 21968973)1 Yu W....Koltun W.A. (2012)
    6. Increased expression of NKX2.3 mRNA transcribed from the risk haplotype for ulcerative colitis in the involved colonic mucosa. (PubMed id 21514341)1 Arai T....Shimosegawa T. (2011)
    7. NKX2-3 variant rs11190140 is associated with IBD and alters binding of NFAT. (PubMed id 21803625)1 John G....Lin Z. (2011)
    8. NKX2-3 transcriptional regulation of endothelin-1 and VEGF signaling in human intestinal microvascular endothelial cells. (PubMed id 21637825)1 Yu W....Lin Z. (2011)
    9. Association between genome-wide association studies r eported SNPs and pediatric-onset Crohn's disease in Canadian children. (PubMed id 20473688)1 Amre D.K....Levy E. (2010)
    10. Genome-wide association study for ulcerative colitis identifies risk loci at 7q22 and 22q13 (IL17REL). (PubMed id 20228798)1 Franke A....Vatn M.H. (2010)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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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)
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