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

NKX2-2 Gene

protein-coding   GIFtS: 59
GCID: GC20M021491

NK2 Homeobox 2

(Previous names: NK-2 (Drosophila) homolog B, NK2 transcription factor related,...)
(Previous symbol: NKX2B)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
NK2 Homeobox 21 2     NK2 Transcription Factor Related, Locus 2 (Drosophila)1
NKX2B1 2 3 5     Homeobox Protein Nkx-2.22
Homeobox Protein NK-2 Homolog B2 3     NK-2 Homolog B2
NKX2.22 3     NK2 Transcription Factor Related, Locus 22
NK-2 (Drosophila) Homolog B1     NK2 Transcription Factor-Like Protein B2

External Ids:    HGNC: 78351   Entrez Gene: 48212   Ensembl: ENSG000001258207   OMIM: 6046125   UniProtKB: O950963   

Export aliases for NKX2-2 gene to outside databases

Previous GC identifers: GC20M021479 GC20M021486 GC20M021439 GC20M021453


(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 NKX2-2 Gene:
The protein encoded by this gene contains a homeobox domain and may be involved in the morphogenesis of the
central nervous system. This gene is found on chromosome 20 near NKX2-4, and these two genes appear to be
duplicated on chromosome 14 in the form of TITF1 and NKX2-8. The encoded protein is likely to be a nuclear
transcription factor. (provided by RefSeq, Jul 2008)

GeneCards Summary for NKX2-2 Gene: 
NKX2-2 (NK2 homeobox 2) is a protein-coding gene. Diseases associated with NKX2-2 include gastrointestinal neuroendocrine tumor, and partington syndrome, and among its related super-pathways are Regulation of beta-cell development and Axon guidance. GO annotations related to this gene include chromatin binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is NKX2-1.

UniProtKB/Swiss-Prot: NKX22_HUMAN, O95096
Function: Acts as a transcriptional activator. Required for the maintenance of NEUROD1 expression in the
horomone-producing endocrine cells of the pancreas. May be involved in specifying diencephalic neuromeric
boundaries, and in controlling the expression of genes that play a role in axonal guidance. Associates with
chromatin at the NEUROD1 promoter region. Binds to a subset of consensus elements within the NEUROD1 promoter (By
similarity)

Gene Wiki entry for NKX2-2 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000020.10  NC_018931.2  NT_011387.8  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the NKX2-2 gene promoter:
         GR   Oct-B1   USF1   oct-B2   oct-B3   Max   HFH-1   USF-1   GR-alpha   ATF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): NKX2-2 promoter sequence
   Search SABiosciences Chromatin IP Primers for NKX2-2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NKX2-2


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

Entrez Gene cytogenetic band: 20p11.22   Ensembl cytogenetic band:  20p11.22   HGNC cytogenetic band: 20p11.22

NKX2-2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NKX2-2 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20M021491:  view genomic region     (about GC identifiers)

Start:
21,491,648 bp from pter      End:
21,494,664 bp from pter
Size:
3,017 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: NKX22_HUMAN, O95096 (See protein sequence)
Recommended Name: Homeobox protein Nkx-2.2  
Size: 273 amino acids; 30133 Da
Subunit: Interacts with OLIG2 (By similarity)
Subcellular location: Nucleus (By similarity)

Explore the universe of human proteins at neXtProt for NKX2-2: NX_O95096

Explore proteomics data for NKX2-2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O95096

  • NKX2-2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    NKX2-2 Protein Expression
    REFSEQ proteins: NP_002500.1  
    ENSEMBL proteins: 
     ENSP00000366347  
    Reactome Protein details: O95096
    Human Recombinant Protein Products for NKX2-2: 
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    OriGene Protein Over-expression Lysate for NKX2-2
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    Novus Biologicals NKX2-2 Protein
    Novus Biologicals NKX2-2 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for NKX2-2 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005634nucleus ----
    GO:0005654nucleoplasm TAS--

    NKX2-2 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 O95096

    ProtoNet protein and cluster: O95096

    UniProtKB/Swiss-Prot: NKX22_HUMAN, O95096
    Domain: The homeodomain is essential for interaction with OLIG2 (By similarity)
    Similarity: Belongs to the NK-2 homeobox family
    Similarity: Contains 1 homeobox DNA-binding domain


    NKX2-2 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: NKX22_HUMAN, O95096
    Function: Acts as a transcriptional activator. Required for the maintenance of NEUROD1 expression in the
    horomone-producing endocrine cells of the pancreas. May be involved in specifying diencephalic neuromeric
    boundaries, and in controlling the expression of genes that play a role in axonal guidance. Associates with
    chromatin at the NEUROD1 promoter region. Binds to a subset of consensus elements within the NEUROD1 promoter (By
    similarity)

         Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001159core promoter proximal region DNA binding ISS--
    GO:0003677DNA binding ----
    GO:0003682chromatin binding ISS--
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0003713transcription coactivator activity ISS--
         
    NKX2-2 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for NKX2-2:
     Metaphase cells 

         8 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Nkx2-2):
     cellular  embryogenesis  endocrine/exocrine gland  growth/size  homeostasis/metabolism 
     mortality/aging  nervous system  reproductive system 

    NKX2-2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Nkx2-2Nkx2-tm1Jlr for NKX2-2

       inGenious Targeting Laboratory - Custom generated mouse model solutions for NKX2-2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for NKX2-2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for NKX2-2 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for NKX2-2 

    miRNA
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    8/25 QIAGEN miScript miRNA Assays for microRNAs that regulate NKX2-2 (see all 25):
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    SwitchGear 3'UTR luciferase reporter plasmidNKX2-2 3' UTR sequence
    Inhib. RNA
    Products:
        
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NKX2-2


    (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

    SuperPaths for NKX2-2 About   (see all 7)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Regulation of beta-cell development
    Regulation of beta-cell development0.56
    Maturity onset diabetes of the young0.56
    2Axon guidance
    Developmental Biology0.69
    3Wnt / Hedgehog / Notch
    Wnt / Hedgehog / Notch
    4Transcription factors in neurogenesis
    Transcription factors in neurogenesis
    5SIDS Susceptibility Pathways
    SIDS Susceptibility Pathways

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for NKX2-2
        Transcription factors in neurogenesis


    2 Cell Signaling Technology (CST) Pathways for NKX2-2
        Wnt / Hedgehog / Notch
    Neuroscience

    1 BioSystems Pathway for NKX2-2
        SIDS Susceptibility Pathways

    3        Reactome Pathways for NKX2-2
        Developmental Biology
    Regulation of beta-cell development
    Regulation of gene expression in endocrine-committed (NEUROG3+) progenitor cells


    1         Kegg Pathway  (Kegg details for NKX2-2):
        Maturity onset diabetes of the young


    NKX2-2 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for NKX2-2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/62 Interacting proteins for NKX2-2 (O950962, 3 ENSP000003663474) via UniProtKB, MINT, STRING, and/or I2D (see all 62)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    OLIG2Q135163, ENSP000003310404I2D: score=2 STRING: ENSP00000331040
    HDAC1Q135473, ENSP000003626494I2D: score=1 STRING: ENSP00000362649
    SIN3AQ96ST33, ENSP000003536224I2D: score=1 STRING: ENSP00000353622
    FOXA2ENSP000003159554STRING: ENSP00000315955
    FOXO1ENSP000003688804STRING: ENSP00000368880
    About this table

    Gene Ontology (GO): 5/27 biological process terms (GO ID links to tree view) (see all 27):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003323type B pancreatic cell development IEA--
    GO:0003326pancreatic A cell fate commitment IEA--
    GO:0003327type B pancreatic cell fate commitment IEA--
    GO:0003329pancreatic PP cell fate commitment IEA--
    GO:0006351transcription, DNA-dependent IEA--

    NKX2-2 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 NKX2-2 (NKX22)

    Search CenterWatch for drugs/clinical trials and news about NKX2-2 / NKX22

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for NKX2-2 gene: 
    NM_002509.3  

    Unigene Cluster for NKX2-2:

    NK2 homeobox 2
    Hs.516922  [show with all ESTs]
    Unigene Representative Sequence: NM_002509
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000377142(uc002wsi.3)
    miRNA
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    8/25 QIAGEN miScript miRNA Assays for microRNAs that regulate NKX2-2 (see all 25):
    hsa-miR-30c hsa-miR-3607-3p hsa-miR-520d-5p hsa-miR-2110 hsa-miR-106a hsa-miR-30d hsa-miR-374a hsa-miR-30a
    SwitchGear 3'UTR luciferase reporter plasmidNKX2-2 3' UTR sequence
    Inhib. RNA
    Products:
         
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NKX2-2

    Additional mRNA sequence: 

    BC075092.2 BC075093.2 

    5 DOTS entries:

    DT.86840420  DT.120806866  DT.95299203  DT.102841075  DT.97855962 

    24/38 AceView cDNA sequences (see all 38):

    BC075092 BQ286105 NM_002509 BM126595 BU070383 BI966166 CA848333 BM126493 
    CK904046 CA848623 BC075093 BF512834 BM127626 BM127321 BM126854 BM310999 
    BQ787392 BM310856 BQ269463 AI675189 BQ631747 BM126189 CA772329 AI815011 

    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

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


    NKX2-2 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
     
     Brain (Nervous System)    fully expand to see all 34 entries
             Late MN Progenitor Cells Motor Neural Progenitor Domain
             Thalamus
             GABA neuron-like cells ( Generation of motor and gamma-aminobutyric acid (GABA)...
             striatum   
     
     Pancreas (Endocrine System)    fully expand to see all 16 entries
             Endocrine Progenitor Cells Ventral Pancreatic Bud
             Pancreatic endoderm-like cells ( Generation of beta cells through a definitive endoderm...
     
     Neural Tube (Nervous System)    fully expand to see all 12 entries
             Late MN Progenitor Cells Motor Neural Progenitor Domain
             Diencephalon
     
     Spinal Cord (Nervous System)    fully expand to see all 10 entries
             Motor Neural Progenitor Cells Motor Neural Progenitor Domain
             Fetal spinal cord stem cells (NSI-566)
             Motor neuron progenitors ( Differentiation of mouse neural stem cells into motor...
             Dorsal Horn   
     
     Neuron (Nervous System)    fully expand to see all 3 entries
             Motor neuron-like cells ( Generation of motor neurons using a human GFP-reporter...

    See NKX2-2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NKX2-2

    SOURCE GeneReport for Unigene cluster: Hs.516922
        SABiosciences Expression via Pathway-Focused PCR Arrays including NKX2-2: 
              Cell Lineage Identification in human mouse rat
              Stem Cell Transcription Factors in human mouse rat
              Homeobox (HOX) Genes in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NKX2-2

    (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 NKX2-2 gene from 6/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nkx2-21 , 5 NK2 transcription factor related, locus 2 (Drosophila)1, 5 93.16(n)1
    98.17(a)1
      2 (72.63 cM)5
    180881  NM_010919.21  NP_035049.11 
     1471775465 
    chicken
    (Gallus gallus)
    Aves NKX2-21 NK2 homeobox 2 83.09(n)
    88.6(a)
      428549  XM_003643807.1  XP_003643855.1 
    lizard
    (Anolis carolinensis)
    Reptilia NKX2-26
    Uncharacterized protein
    84(a)
    1 ↔ 1
    4(81466043-81482718)
    African clawed frog
    (Xenopus laevis)
    Amphibia nkx2-2-A2 NK2 transcription factor related, locus 2 77.22(n)    L10327.1 
    zebrafish
    (Danio rerio)
    Actinopterygii nkx2.22 NK2 transcription factor related 2 75.45(n)   30697  NM_131422.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta vnd6
    ventral nervous system defective
    14(a)
    1 ↔ 1
    X(476732-491855)


    ENSEMBL Gene Tree for NKX2-2 (if available)
    TreeFam Gene Tree for NKX2-2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for NKX2-2 gene
    NKX2-12  NKX6-12  HMX32  TLX22  NKX3-12  TLX12  NKX2-32  HMX22  
    NKX6-32  NKX3-22  NKX6-22  NKX2-62  NKX2-82  NKX2-52  NKX2-42  HMX12  
    TLX32  
    6 SIMAP similar genes for NKX2-2 using alignment to 1 protein entry:     NKX22_HUMAN:
    NKX2B    NKX2-6    NKX2-8    NKX2-4    NKX2-3    NKX2-5

    NKX2-2 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

    10/124 SNPs in NKX2-2 are shown (see all 124)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs731278561,2
    C--21491180(+) TAGCGT/CGAGGT 1 -- ds50012Minor allele frequency- C:0.10NA 122
    rs1448803091,2
    --21491344(+) CTGCCA/GCCCGG 1 -- ds50010--------
    rs37467411,2
    C,F,A,H--21491398(-) CAGGGT/CCGCCC 1 -- ds50018Minor allele frequency- C:0.49NA CSA WA EA 367
    rs1881170121,2
    --21491513(+) CCCCGC/TCCGCC 1 -- ds50010--------
    rs37467401,2
    C--21491553(-) TTCCTC/TTCGGG 1 -- ds50010--------
    rs1808915601,2
    C--21491768(+) AGTTCC/GGGGCT 1 -- ut310--------
    rs1416912141,2
    --21491771(+) TCGGGG/TCTGAA 1 -- ut310--------
    rs1170625311,2
    C,F--21491781(+) AGGCCC/TGGAGG 1 -- ut311Minor allele frequency- T:0.05NA 120
    rs1405435271,2
    C--21491887(+) AAACG-/CAAAAACA
    AAAACAAAAAA
    CAAAA
    1 -- ut310--------
    rs711823051,2
    C--21491900(+) CAAAA-/AA/AACAAAA
    ACAAAAACAAAA
    CAAAA
    2 -- ut311NA 2

    HapMap Linkage Disequilibrium report for NKX2-2 (21491648 - 21494664 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for NKX2-2:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2659363CNV Deletion23128226
    nsv833941CNV Gain17160897


    Human Gene Mutation Database (HGMD): NKX2-2
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing NKX2-2
    DNA2.0 Custom Variant and Variant Library Synthesis for NKX2-2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 604612    OMIM disorders: --

    12 diseases for NKX2-2:    About MalaCards
    gastrointestinal neuroendocrine tumor    partington syndrome    neuroendocrine tumor    oligodendroglioma
    maturity-onset diabetes of the young    acute lymphoblastic leukemia    lymphoblastic leukemia    multiple sclerosis
    sarcoma    leukemia    neuronitis    pancreatitis


    NKX2-2 for disorders           About GeneDecksing

    2 Novoseek inferred disease relationships for NKX2-2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    oligodendroglioma 60 4 17146289 (2), 17442061 (1)
    glioma 27.9 1 17146289 (1)

    Genetic Association Database (GAD): NKX2-2
    Human Genome Epidemiology (HuGE) Navigator: NKX2-2 (1 document)

    Export disorders for NKX2-2 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 NKX2-2 gene, integrated from 9 sources (see all 35):
    (articles sorted by number of sources associating them with NKX2-2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Beta-cell transcription factors and diabetes: mutations in the coding region of the BETA2/NeuroD1 (NEUROD1) and Nkx2.2 (NKX2B) genes are not associated with maturity-onset diabetes of the young in Japanese. (PubMed id 9703340)1, 2, 3, 9 Furuta H.... Bell G.I. (1998)
    2. Association studies of variants in the genes involved in pancreatic beta-cell function in type 2 diabetes in Japanese subjects. (PubMed id 16873704)1, 4 Yokoi N....Seino S. (2006)
    3. 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)
    4. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (2001)
    5. Regional expression of the homeobox gene Nkx-2.2 in t he developing mammalian forebrain. (PubMed id 1346742)1, 3 Price M....Di Lauro R. (1992)
    6. NKX2.2 is a useful immunohistochemical marker for Ewin g sarcoma. (PubMed id 22446943)1 Yoshida A....Tsuda H. (2012)
    7. Transcription factor-induced lineage selection of stem -cell-derived neural progenitor cells. (PubMed id 21624811)1 Panman L....Perlmann T. (2011)
    8. Integrated transcript and genome analyses reveal NKX2 -1 and MEF2C as potential oncogenes in T cell acute lymphoblastic leukemia. (PubMed id 21481790)1 Homminga I....Meijerink J.P. (2011)
    9. The SH3 domain of postsynaptic density 95 mediates inf lammatory pain through phosphatidylinositol-3-kinase recruitment. (PubMed id 20467438)1 Arbuckle M.I....Grant S.G. (2010)
    10. Lack of NKX2.2 expression in bronchopulmonary typical carcinoid tumors: implications for patients with neuroendocrine tumor metastas es and unknown primary site. (PubMed id 20599218)1 Wang Y.C....Nakakura E.K. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 4821 HGNC: 7835 AceView: NKX2-2 Ensembl:ENSG00000125820 euGenes: HUgn4821
    ECgene: NKX2-2 Kegg: 4821 H-InvDB: NKX2-2

    (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 NKX2-2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for NKX2-2 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for NKX2-2 gene:
    Search GeneIP for patents involving NKX2-2

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



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