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

NKX1-2 Gene

protein-coding   GIFtS: 34
GCID: GC10M126135          (predicted)

NK1 Homeobox 2

(Previous names: chromosome 10 open reading frame 121, NK1 transcription...)
(Previous symbol: C10orf121)
  See related disease
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
NK1 Homeobox 21 2     NK1 Transcription Factor Related, Locus 2 (Drosophila)1
C10orf1211 2 3     bB238F13.22
Homeobox Protein SAX-12 3     NK1 Transcription Factor Related, Locus 22
NKX-1.12 3     NK1 Transcription Factor-Related Protein 22
Chromosome 10 Open Reading Frame 1211     NKX1.13

External Ids:    HGNC: 316521   Entrez Gene: 3900102   Ensembl: ENSG000002295447   UniProtKB: Q9UD573   

Export aliases for NKX1-2 gene to outside databases

Previous GC identifers: GC10M126127 GC10M119820


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for NKX1-2 Gene: 
NKX1-2 (NK1 homeobox 2) is a protein-coding gene. Diseases associated with NKX1-2 include neuronitis. 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 DLX2.

UniProtKB/Swiss-Prot: NKX12_HUMAN, Q9UD57
Function: May function in cell specification, particularly in the CNS (By similarity)




(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 NKX1-2 gene promoter:
         RFX1   AML1a   RelA   CUTL1   Nkx2-5   NF-kappaB   Cdc5   Arnt   NF-kappaB1   Hlf   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for NKX1-2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NKX1-2


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

Entrez Gene cytogenetic band: 10q26.13   Ensembl cytogenetic band:  10q26.13   HGNC cytogenetic band: 10q26.13

NKX1-2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NKX1-2 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10M126135:  view genomic region     (about GC identifiers)

Start:
126,135,592 bp from pter      End:
126,138,753 bp from pter
Size:
3,162 bases      Orientation:
minus 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: NKX12_HUMAN, Q9UD57 (See protein sequence)
Recommended Name: NK1 transcription factor-related protein 2  
Size: 310 amino acids; 32381 Da
Subcellular location: Nucleus (By similarity)

Explore the universe of human proteins at neXtProt for NKX1-2: NX_Q9UD57

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9UD57

  • NKX1-2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 : --
    REFSEQ proteins: NP_001139812.1  
    ENSEMBL proteins: 
     ENSP00000451945   ENSP00000450924  

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    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--

    NKX1-2 for ontologies           About GeneDecksing



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    (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 Q9UD57

    ProtoNet protein and cluster: Q9UD57

    UniProtKB/Swiss-Prot: NKX12_HUMAN, Q9UD57
    Similarity: Belongs to the NK-1 homeobox family
    Similarity: Contains 1 homeobox DNA-binding domain


    NKX1-2 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: NKX12_HUMAN, Q9UD57
    Function: May function in cell specification, particularly in the CNS (By similarity)

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding ----
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0005515protein binding ----
    GO:0043565sequence-specific DNA binding IEA--
         
    NKX1-2 for ontologies           About GeneDecksing


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    (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 NKX1-2

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006355regulation of transcription, DNA-dependent ----
    GO:0007275multicellular organismal development IEA--

    NKX1-2 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 NKX1-2 (NKX12)

    Search CenterWatch for drugs/clinical trials and news about NKX1-2 / NKX12

    (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,
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    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 NKX1-2 gene: 
    NM_001146340.1  

    Unigene Cluster for NKX1-2:

    NK1 homeobox 2
    Hs.712041
    Unigene Representative Sequence: BC171854
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000451024(uc010quf.2) ENST00000440536
    miRNA
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    Additional mRNA sequence: BC171854.1 

    1 AceView cDNA sequence:

    AI971877 

    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

    NKX1-2 expression in normal human tissues (normalized intensities)      NKX1-2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    NKX1-2 Expression
    About this image


    NKX1-2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/5 selected tissues (see all 5) fully expand
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             retinal progenitor cell e16.5   
     
     Inner Cell Mass (Early Embryonic Tissues)
             Blimp1- mVenus and stella-ECFP genetically modified stem cells
     
     Neural Tube (Nervous System)
             Mesencephalic Basal Plate
     
     Skeletal Muscle (Muscoskeletal System)
             Muscle Progenitor Cells Thoracic Ventrolateral Dermomyotome Lip
     
     Somite (Muscoskeletal System)
             Muscle Progenitor Cells Thoracic Ventrolateral Dermomyotome Lip

    SOURCE GeneReport for Unigene cluster: Hs.712041
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NKX1-2

    (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 NKX1-2 gene from 6/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nkx1-21 , 5 NK1 transcription factor related, locus 2 (Drosophila)1, 5 77.81(n)1
    76.16(a)1
      7 (76.30 cM)5
    202311  NM_009123.21  NP_033149.11 
     1325948785 
    chicken
    (Gallus gallus)
    Aves LOC1008577651 homeobox protein SAX-1-like 74.73(n)
    78.98(a)
      100857765  XM_003641503.1  XP_003641551.1 
    lizard
    (Anolis carolinensis)
    Reptilia NKX1-26
    Uncharacterized protein
    49(a)
    1 ↔ 1
    3(61663563-61673283)
    zebrafish
    (Danio rerio)
    Actinopterygii nkx1.2la1 NK1 transcription factor related 2-like,a 51.85(n)
    48.97(a)
      405755  NM_212830.1  NP_997995.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta slou6
    slouch
    12(a)
    1 → many
    3R(17374377-17383004)
    worm
    (Caenorhabditis elegans)
    Secernentea ceh-16
    Homeobox protein ceh-1
    45(a)
    1 → many
    X(4653434-4654159)


    ENSEMBL Gene Tree for NKX1-2 (if available)
    TreeFam Gene Tree for NKX1-2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for NKX1-2 gene
    DLX22  BARX12  NKX1-12  VENTX2  BARHL12  BARHL22  BARX22  DLX12  
    DLX32  LBX22  BSX2  DLX52  DLX62  DLX42  LBX12  MSX22  
    MSX12  
    7 SIMAP similar genes for NKX1-2 using alignment to 2 protein entries:     NKX12_HUMAN (see all proteins):
    NKX6-1    HMX2    HOXB1    DLX1    HOXA4    NKX2-5
    NKX1-1

    NKX1-2 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

    10/101 SNPs in NKX1-2 are shown (see all 101)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1474899921,2
    --126135532(+) CTCTCC/TGGGTT 1 -- ds50010--------
    rs1806861261,2
    --126135570(+) GGAAGC/TTGTCA 1 -- ds50010--------
    rs1399293681,2
    --126135641(+) TAGCCA/GCCAGC 1 -- ds50010--------
    rs1180619371,2
    C,F--126135733(+) AAAAAC/TTAGCC 1 -- ds50011Minor allele frequency- T:0.05EA 120
    rs789519831,2
    C,F--126135795(+) CAAGGC/GTTGAG 1 -- ds50012Minor allele frequency- G:0.17NA 122
    rs1132594661,2
    C--126135893(+) AGGGGC/TGCGCT 1 -- ds50011Minor allele frequency- T:0.50NA 2
    rs1392244581,2
    --126135932(+) AGGAGC/TCGAGG 1 -- ds50010--------
    rs1851211961,2
    C--126135973(+) CCGCGA/GAAGAG 1 -- ds50010--------
    rs1895349571,2
    --126136022(+) AAGGGG/TGTCAG 2 T syn10--------
    rs70759811,2
    C,F,A--126136112(+) AGGACA/GTTGGC 2 N syn15Minor allele frequency- G:0.17NA WA CSA 244

    HapMap Linkage Disequilibrium report for NKX1-2 (126135592 - 126138753 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for NKX1-2:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv832012CNV Gain+Loss17160897

    SABiosciences Cancer Mutation PCR Assays
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    (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
    2 diseases for NKX1-2:    About MalaCards
    neuronitis    


    NKX1-2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): NKX1-2

    Export disorders for NKX1-2 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 NKX1-2 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with NKX1-2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The mouse Nkx-1.2 homeobox gene: alternative RNA splicing at canonical and noncanonical splice sites. (PubMed id 10681422)1, 3 Rovescalli A.C....Nirenberg M. (2000)
    2. Genome wide association study for plasma levels of nat ural anticoagulant inhibitors and protein C anticoagulant pathway: the MARTHA pr oject. (PubMed id 22443383)4 Oudot-Mellakh T....Morange P.E. (2012)
    3. The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)2 Deloukas P.... Rogers J. (2004)
    4. Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. (PubMed id 15146197)1 Brandenberger R.... Stanton L.W. (2004)
    5. Identification of homeobox genes expressed in human haemopoietic progenitor cells. (PubMed id 7518789)2 Moretti P....D'Andrea R. (1994)

    (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: 390010 HGNC: 31652 AceView: C10orf121.1 Ensembl:ENSG00000229544 euGenes: HUgn390010
    ECgene: NKX1-2 H-InvDB: NKX1-2

    (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 NKX1-2 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 NKX1-2 gene:
    Search GeneIP for patents involving NKX1-2

    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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