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

NKX1-2 Gene

protein-coding   GIFtS: 31
GCID: GC10M126127          (predicted)

NK1 homeobox 2

(Previous names: chromosome 10 open reading frame 121, NK1 transcription...)
(Previous symbol: C10orf121)
  Search for NKX1-2
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Biological research products
for NKX1-2    

Aliases
for NKX1-2 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
NK1 Homeobox 21 2     Chromosome 10 Open Reading Frame 1211
C10orf1211 2 3     NK1 Transcription Factor Related, Locus 2 (Drosophila)1
BB238F13.21     NK1 Transcription Factor Related, Locus 22
Homeobox Protein SAX-12 3     NK1 Transcription Factor-Related Protein 22
NKX-1.12 3     NKX1.13

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

Export aliases for NKX1-2 gene to outside databases

Previous GC identifer: GC10M119820


Summaries
for NKX1-2 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
UniProtKB/Swiss-Prot: NKX12_HUMAN, Q9UD57
Function: May function in cell specification, particularly in the CNS (By similarity)




Genomic Views
for NKX1-2 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000010.10  NC_018921.1  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 GC10M126127:  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

Proteins
for NKX1-2 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: 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 PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9UD57

    • NKX1-2 Protein expression data from MOPED and PaxDb: --
    REFSEQ proteins: NP_001139812.1  
    ENSEMBL proteins: 
     ENSP00000451945   ENSP00000450924  

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    Uscn Proteins for NKX1-2

    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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    Protein Domains /
    Families
    for NKX1-2 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    NKX1-2 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 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


    Function
    for NKX1-2 gene

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

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

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0005515protein binding ----
    GO:0043565sequence-specific DNA binding IEA--


    NKX1-2 for ontologies           About GeneDecksing



    Pathways & Interactions
    for NKX1-2 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for NKX1-2

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007275multicellular organismal development IEA--


    NKX1-2 for ontologies           About GeneDecksing



    Drugs & Compounds
    for NKX1-2 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for NKX1-2
    Search CenterWatch for drugs/clinical trials and news about NKX1-2 / NKX12 

    Transcripts
    for NKX1-2 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    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

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    Inhib. RNA
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    Clone
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    Primer
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    Additional cDNA sequence: BC171854.1 

    1 AceView cDNA sequence:

    AI971877 

    GeneLoc Exon Structure


    Expression
    for NKX1-2 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    NKX1-2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

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

    NKX1-2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    SomiteThoracic Ventrolateral Dermomyotome LipMuscle Progenitor CellsSkeletal Muscle
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Blimp1- mVenus and stella-ECFP genetically modified stem cells (Embryonic Stem Cell)Early Embryo, Inner Cell Mass

    SOURCE GeneReport for Unigene cluster: Hs.712041
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    In Situ
    Assay Products:     
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    Orthologs
    for NKX1-2 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for NKX1-2 gene from 5/16 species (see all 16)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    		 --
    		 50(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 lms6
    		 lateral muscles scarcer
    		 11(a)
    		 possible ortholog
    		 2R(16444364-16447458)
    worm
    (Caenorhabditis elegans)    		 Secernentea ceh-16
    		 Homeobox protein ceh-1
    		 44(a)
    		 1 ↔ 1
    		 X(4653407-4654132)


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

    Paralogs
    for NKX1-2 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for NKX1-2 gene
    MEOX12  EVX12  MNX12  MEOX22  EVX22  NKX1-12  GBX12  GBX22  
    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



    Genomic Variants
    for NKX1-2 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/79 NCBI SNPs in NKX1-2 are shown (see all 79)     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
    		F,--126135733(+) AAAAAC/TTAGCC 1 -- ds50011Minor allele frequency- T:0.05EA 120
    rs789519831,2
    		C,--126135795(+) CAAGGC/GTTGAG 1 -- ds50012Minor allele frequency- G:0.17NA 122
    rs1392244581,2
    		--126135932(+) AGGAGC/TCGAGG 1 -- ds50010--------
    rs1851211961,2
    		--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
    rs70899701,2
    		C,F,A,--126136119(+) TGGCCG/TCGGAG 2 E A mis14Minor allele frequency- T:0.15WA CSA 124

    HapMap Linkage Disequilibrium report for NKX1-2 (126135592 - 126138753 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for NKX1-2: --

    SABiosciences Cancer Mutation PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing NKX1-2
    DNA2.0 Custom Variant and Variant Library Synthesis for NKX1-2

    Disorders / Diseases
    for NKX1-2 gene

    (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
    		   --

    Publications
    for NKX1-2 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for 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. The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)2 Deloukas P.... Rogers J. (2004)
    3. Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. (PubMed id 15146197)1 Brandenberger R.... Stanton L.W. (2004)
    4. Identification of homeobox genes expressed in human haemopoietic progenitor cells. (PubMed id 7518789)2 Moretti P....D'Andrea R. (1994)

    External Searches for NKX1-2 gene

    (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)

    Genome Databases showing NKX1-2 gene

    (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

    Other Databases showing NKX1-2 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing NKX1-2 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for NKX1-2 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for NKX1-2 gene

    (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



    Products
    for NKX1-2 gene

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    About This Section

     
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