Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



NKX3-2 Gene

protein-coding   GIFtS: 50
GCID: GC04M013542

NK3 Homeobox 2

(Previous name: bagpipe homeobox homolog 1 (Drosophila))
(Previous symbol: BAPX1)
  See NKX3-2-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

TryGeneCards Plus

Aliases
NK3 Homeobox 21 2     SMMD2 5
BAPX11 2 3 5     Bagpipe Homeobox Homolog 1 (Drosophila)1
Bagpipe Homeobox Protein Homolog 12 3     NKX3.22
Homeobox Protein NK-3 Homolog B2 3     Homeobox Protein Nkx-3.22
NKX3B2 3     

External Ids:    HGNC: 9511   Entrez Gene: 5792   Ensembl: ENSG000001097057   OMIM: 6021835   UniProtKB: P783673   

Export aliases for NKX3-2 gene to outside databases

Previous GC identifers: GC04M013152 GC04M012880


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

TryGeneCards Plus

Entrez Gene summary for NKX3-2 Gene:
This gene encodes a member of the NK family of homeobox-containing proteins. The encoded protein may play a role
in skeletal development. (provided by RefSeq, Jul 2008)

GeneCards Summary for NKX3-2 Gene:
NKX3-2 (NK3 homeobox 2) is a protein-coding gene. Diseases associated with NKX3-2 include spondylo-megaepiphyseal-metaphyseal dysplasia, and metaphyseal dysplasia. 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: NKX32_HUMAN, P78367
Function: Transcriptional repressor that acts as a negative regulator of chondrocyte maturation. PLays a role in
distal stomach development; required for proper antral-pyloric morphogenesis and development of antral-type
epithelium. In concert with GSC, defines the structural components of the middle ear; required for tympanic ring
and gonium development and in the regulation of the width of the malleus (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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus
RefSeq DNA sequence at NCBI GenBank:
NC_000004.11  NC_018915.2  NT_006316.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the NKX3-2 gene promoter:
         Sox9   Arnt   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNKX3-2 promoter sequence
   Search Chromatin IP Primers for NKX3-2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NKX3-2


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

Entrez Gene cytogenetic band: 4p16.3   Ensembl cytogenetic band:  4p15.33   HGNC cytogenetic band: 4p16.3

NKX3-2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NKX3-2 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04M013542:  view genomic region     (about GC identifiers)

Start:
13,542,454 bp from pter      End:
13,546,674 bp from pter
Size:
4,221 bases      Orientation:
minus 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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: NKX32_HUMAN, P78367 (See protein sequence)
Recommended Name: Homeobox protein Nkx-3.2  
Size: 333 amino acids; 34814 Da
Secondary accessions: Q2M2I7

Explore the universe of human proteins at neXtProt for NKX3-2: NX_P78367

Explore proteomics data for NKX3-2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See NKX3-2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001180.1  
    ENSEMBL proteins: 
     ENSP00000371875  

    NKX3-2 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for NKX3-2
    OriGene Protein Over-expression Lysate for NKX3-2
    OriGene Custom MassSpec
    OriGene Custom Protein Services for NKX3-2
    GenScript Custom Purified and Recombinant Proteins Services for NKX3-2
    Novus Biologicals NKX3-2 Proteins
    Novus Biologicals NKX3-2 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for NKX3-2

     
    Search eBioscience for Proteins for NKX3-2 

    NKX3-2 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies for NKX3-2
    OriGene Custom Antibody Services for NKX3-2
    Novus Biologicals NKX3-2 Antibodies
    Abcam antibodies for NKX3-2
    Cloud-Clone Corp. Antibodies for NKX3-2
    ThermoFisher Antibodies for NKX3-2
    LSBio Antibodies in human, mouse, rat for NKX3-2

    NKX3-2 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for NKX3-2
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for NKX3-2
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for NKX3-2
    Cloud-Clone Corp. CLIAs for NKX3-2
    Search eBioscience for ELISAs for NKX3-2 


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

    TryGeneCards Plus
    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 P78367

    ProtoNet protein and cluster: P78367

    1 Blocks protein domain: IPB000047 Lambda and other repressor helix-turn-helix signature

    UniProtKB/Swiss-Prot: NKX32_HUMAN, P78367
    Similarity: Belongs to the NK-3 homeobox family
    Similarity: Contains 1 homeobox DNA-binding domain


    Find genes that share domains with NKX3-2           About GenesLikeMe


    (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,
    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.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NKX32_HUMAN, P78367
    Function: Transcriptional repressor that acts as a negative regulator of chondrocyte maturation. PLays a role in
    distal stomach development; required for proper antral-pyloric morphogenesis and development of antral-type
    epithelium. In concert with GSC, defines the structural components of the middle ear; required for tympanic ring
    and gonium development and in the regulation of the width of the malleus (By similarity)

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding ----
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0043565sequence-specific DNA binding IEA--
         
    Find genes that share ontologies with NKX3-2           About GenesLikeMe


    Phenotypes:
         Selected MGI mutant phenotypes (inferred from 10 alleles(MGI details for Nkx3-2) (see all 17):
     cellular  craniofacial  digestive/alimentary  embryogenesis  endocrine/exocrine gland 
     growth/size/body  hearing/vestibular/ear  hematopoietic system  immune system  limbs/digits/tail 
     mortality/aging  muscle  nervous system  no phenotypic analysis  normal 

    Find genes that share phenotypes with NKX3-2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for NKX3-2: Nkx3-2Nkx3-tm1Tlu Nkx3-2Nkx3-tm1Bobh Nkx3-2Nkx3-tm1.1Tlu

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NKX3-2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for NKX3-2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for NKX3-2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for NKX3-2

    miRNA
    Products:
        
    miRTarBase miRNAs that target NKX3-2:
    hsa-mir-181a-5p (MIRT025136), hsa-mir-335-5p (MIRT018824), hsa-mir-26b-5p (MIRT030139)

    Block miRNA regulation of human, mouse, rat NKX3-2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate NKX3-2 (see all 39):
    hsa-miR-4291 hsa-miR-429 hsa-miR-106a hsa-miR-128 hsa-miR-93 hsa-miR-23a hsa-miR-200b hsa-miR-376c
    SwitchGear 3'UTR luciferase reporter plasmidNKX3-2 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for NKX3-2
    Predesigned siRNA for gene silencing in human, mouse, rat NKX3-2

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for NKX3-2

    Clone
    Products:
         
    OriGene clones in human, mouse for NKX3-2 (see all 4)
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: NKX3-2 (NM_001189)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NKX3-2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NKX3-2

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for NKX3-2
    ESI BIO PureStem Progenitors for NKX3-2: 
    PureStem MEL2, NCr-fac Progenitor, PureStem SM30, NCr-fac & Meso-latp Progenitor
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NKX3-2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    NKX32_HUMAN, P78367: Nucleus (Probable)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus4

    Gene Ontology (GO): 1 cellular component term:    About this table

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

    Find genes that share ontologies with NKX3-2           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).
    About This Section

    TryGeneCards Plus

    SuperPaths for NKX3-2 About    
    See pathways by source

    SuperPathContained pathways About
    1Endochondral Ossification
    Endochondral Ossification


    1 BioSystems Pathway for NKX3-2
        Endochondral Ossification


        Pathway & Disease-focused RT2 Profiler PCR Array including NKX3-2: 
              Apoptosis 384HT in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for NKX3-2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 14)

    Selected Interacting proteins for NKX3-2 (P783673 ENSP000003718754) via UniProtKB, MINT, STRING, and/or I2D (see all 14)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BTRCQ9Y2973, ENSP000003592064I2D: score=1 STRING: ENSP00000359206
    RBBP4Q090283, ENSP000003625924I2D: score=1 STRING: ENSP00000362592
    HDAC1Q135473, ENSP000003626494I2D: score=1 STRING: ENSP00000362649
    RBBP7Q165763, ENSP000003694274I2D: score=1 STRING: ENSP00000369427
    SIN3AQ96ST33, ENSP000003536224I2D: score=1 STRING: ENSP00000353622
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001501skeletal system development TAS9344671
    GO:0006355regulation of transcription, DNA-templated ----
    GO:0006366transcription from RNA polymerase II promoter TAS9344671
    GO:0007368determination of left/right symmetry IEA--
    GO:0031016pancreas development IEA--

    Find genes that share ontologies with NKX3-2           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)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for NKX3-2 (NKX32)



    (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 )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for NKX3-2 gene: 
    NM_001189.3  

    Unigene Cluster for NKX3-2:

    NK3 homeobox 2
    Hs.590927  [show with all ESTs]
    Unigene Representative Sequence: NM_001189
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000382438(uc003gmx.2)
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat NKX3-2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate NKX3-2 (see all 39):
    hsa-miR-4291 hsa-miR-429 hsa-miR-106a hsa-miR-128 hsa-miR-93 hsa-miR-23a hsa-miR-200b hsa-miR-376c
    SwitchGear 3'UTR luciferase reporter plasmidNKX3-2 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for NKX3-2
    Predesigned siRNA for gene silencing in human, mouse, rat NKX3-2
    Clone
    Products:
         
    OriGene clones in human, mouse for NKX3-2 (see all 4)
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: NKX3-2 (NM_001189)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NKX3-2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NKX3-2
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for NKX3-2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat NKX3-2
      QuantiTect SYBR Green Assays in human, mouse, rat NKX3-2
      Search QuantiFast Probe-based Assays in human, mouse, rat NKX3-2

    Additional mRNA sequence: 

    AF009801.1 BC111966.1 

    1 DOTS entry:

    DT.305353 

    5 AceView cDNA sequences:

    NM_001189 AF009801 AW072750 AW073413 BE833010 

    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)
    About This Section

    TryGeneCards Plus

    NKX3-2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    NKX3-2 Expression
    About this image


    NKX3-2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 16) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 17 entries
             Chondrocytes Synchondroses
             Bone Marrow
             HyStem+BMP4-induced 4D20.8 cells
     
     Cartilage (Muscoskeletal System)    fully expand to see all 11 entries
             Chondrocytes Synchondroses
             HyStem+BMP4-induced 4D20.8 cells
     
     Somite (Muscoskeletal System)    fully expand to see all 5 entries
             Sacral Somite Cells Sacral Somite
     
     Brain (Nervous System)    fully expand to see all 10 entries
             Thalamus
     
     Neural Crest (Gastrulation Derivatives)    fully expand to see all 2 entries
             PureStem MEL2, NCr-fac Progenitor
    NKX3-2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NKX3-2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.590927

    UniProtKB/Swiss-Prot: NKX32_HUMAN, P78367
    Tissue specificity: Expressed at highest levels in cartilage, bone (osteosarcoma) and gut (small intestine and
    colon), whereas moderate expression is seen in trachea and brain. Expressed in visceral mesoderm and embryonic
    skeleton

        Pathway & Disease-focused RT2 Profiler PCR Array including NKX3-2: 
              Apoptosis 384HT in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for NKX3-2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat NKX3-2
    QuantiTect SYBR Green Assays in human, mouse, rat NKX3-2
    Search QuantiFast Probe-based Assays in human, mouse, rat NKX3-2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NKX3-2

    (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

    TryGeneCards Plus

    This gene was present in the common ancestor of animals.

    Orthologs for NKX3-2 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nkx3-21 , 5 NK3 homeobox 21, 5 83.98(n)1
    85.29(a)1
      5 (22.58 cM)5
    120201  NM_007524.31  NP_031550.21 
     417614835 
    African clawed frog
    (Xenopus laevis)
    Amphibia bapx1-A2 bagpipe homeobox homolog 1 (Drosophila) 76.98(n)    U75487.1 
    zebrafish
    (Danio rerio)
    Actinopterygii bapx12 bagpipe homeobox homolog 1 75.83(n)   337865  AY225416.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta bap6
    bagpipe
    25(a)
    1 → many
    3R(17214605-17216171)
    worm
    (Caenorhabditis elegans)
    Secernentea ceh-276
    Protein CEH-27, isoform b (ceh-27) mRNA, complete ...
    19(a)
    many ↔ many
    V(11661553-11664697) WBGene00000449


    ENSEMBL Gene Tree for NKX3-2 (if available)
    TreeFam Gene Tree for NKX3-2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
    Paralogs for NKX3-2 gene
    NKX2-12  NKX6-12  HMX32  TLX22  NKX3-12  TLX12  NKX2-32  HMX22  
    NKX6-32  NKX6-22  NKX2-62  NKX2-82  NKX2-52  NKX2-22  NKX2-42  HMX12  
    TLX32  

    Find genes that share paralogs with NKX3-2           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)
    About This Section

    TryGeneCards Plus

    Selected SNPs for NKX3-2 (see all 110)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs14762111,2
    C,F,O,A,H--13482128(-) AGGAGT/CGTTTC 1 -- ds500125Minor allele frequency- C:0.25MN EA NA NS WA 4047
    rs1426946751,2
    --13482266(+) TCACAC/GGGAGG 1 -- ds50010--------
    rs1818146231,2
    --13482365(+) GCTGCC/TCAGGT 1 -- ds50010--------
    rs1841828751,2
    --13482482(+) CAGCTA/CGCCTT 1 -- ds50010--------
    rs1476336951,2
    C--13482493(+) ACTGGG/TTCCCC 1 -- ds50010--------
    rs1114457701,2
    C--13482763(+) CAGAGG/AGCAGA 1 -- ut311Minor allele frequency- A:0.50CSA 2
    rs38222261,2
    C,F,A,H--13482766(+) AGGGCA/GGAAGG 1 -- ut31 ese322Minor allele frequency- G:0.20NS EA NA WA CSA 2349
    rs792705901,2
    C,F--13482962(+) TGTGCG/TCTCTC 1 -- ut311Minor allele frequency- T:0.11WA 118
    rs46987121,2
    C,F,A,H--13482979(+) CCGGGG/ACTCCC 1 -- ut31 ese319Minor allele frequency- A:0.19NS NA WA CSA EA 1492
    rs1893661441,2
    --13483102(+) CACCCC/GCACCC 1 -- ut310--------

    HapMap Linkage Disequilibrium report for NKX3-2 (13542454 - 13546674 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for NKX3-2: --
    Human Gene Mutation Database (HGMD): NKX3-2
    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing NKX3-2
    DNA2.0 Custom Variant and Variant Library Synthesis for NKX3-2

    (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

    TryGeneCards Plus
    OMIM gene information: 602183   
    OMIM disorders: 613330  
    UniProtKB/Swiss-Prot: NKX32_HUMAN, P78367
  • Spondylo-megaepiphyseal-metaphyseal dysplasia (SMMD) [MIM:613330]: A skeletal dysplasia characterized by
    disproportionate short stature with a short and stiff neck and trunk, relatively long limbs that may show flexion
    contractures of the distal joints, delayed and impaired ossification of the vertebral bodies, the presence of
    large epiphyseal ossification centers and wide growth plates in the long tubular bones, and numerous
    pseudoepiphyses of the short tubular bones in hands and feet. Note=The disease is caused by mutations affecting
    the gene represented in this entry

  • 4 diseases for NKX3-2:    
    About MalaCards
    spondylo-megaepiphyseal-metaphyseal dysplasia    metaphyseal dysplasia    skeletal dysplasias    osteosarcoma

    1 disease from the University of Copenhagen DISEASES database for NKX3-2:
    Metaphyseal dysplasia

    Find genes that share disorders with NKX3-2           About GenesLikeMe

    Human Genome Epidemiology (HuGE) Navigator: NKX3-2 (1 document)

    Export disorders for NKX3-2 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

    TryGeneCards Plus

    PubMed articles for NKX3-2 gene, integrated from 10 sources (see all 14):
    (articles sorted by number of sources associating them with NKX3-2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Sequence and chromosomal assignment of human BAPX1, a bagpipe-related gene, to 4p16.1: a candidate gene for skeletal dysplasia. (PubMed id 9344671)1, 2, 3 Yoshiura K. and Murray J.C. (Genomics 1997)
    2. Bapx1: an evolutionary conserved homologue of the Drosophila bagpipe homeobox gene is expressed in splanchnic mesoderm and the embryonic skeleton. (PubMed id 9256352)1, 2, 9 Tribioli C.... Lufkin T. (Mech. Dev. 1997)
    3. Homozygous inactivating mutations in the NKX3-2 gene result in spondylo-megaepiphyseal-metaphyseal dysplasia. (PubMed id 20004766)1, 2 Hellemans J.... Mortier G. (Am. J. Hum. Genet. 2009)
    4. 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. (Genome Res. 2004)
    5. Molecular cloning, chromosomal mapping and developmental expression of BAPX1, a novel human homeobox-containing gene homologous to Drosophila bagpipe. (PubMed id 9426254)1, 2 Tribioli C. and Lufkin T. (Gene 1997)
    6. Indian Hedgehog signalling triggers Nkx3.2 protein degradation during chondrocyte maturation. (PubMed id 22507129)1 Choi S.W....Kim D.W. (Biochem. J. 2012)
    7. Exogenous signal-independent nuclear IkappaB kinase activation triggered by Nkx3.2 enables constitutive nuclear degradation of IkappaB-alpha in chondrocytes. (PubMed id 21606193)1 Yong Y....Kim D.W. (Mol. Cell. Biol. 2011)
    8. Meox homeodomain proteins are required for Bapx1 expression in the sclerotome and activate its transcription by direct binding to its promoter. (PubMed id 15024065)1 Rodrigo I....Imai K. (Mol. Cell. Biol. 2004)
    9. Smad-dependent recruitment of a histone deacetylase/Sin3A complex modulates the bone morphogenetic protein-dependent transcriptional repressor activity of Nkx3.2. (PubMed id 14612411)1 Kim D.W. and Lassar A.B. (Mol. Cell. Biol. 2003)
    10. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)

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

    TryGeneCards Plus
     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

    TryGeneCards Plus
    Entrez Gene: 579 HGNC: 951 AceView: BAPX1 Ensembl:ENSG00000109705 euGenes: HUgn579
    ECgene: NKX3-2 H-InvDB: NKX3-2

    (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

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for NKX3-2 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 NKX3-2 gene:
    Search GeneIP for patents involving NKX3-2

    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, 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
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for NKX3-2   OriGene RNAi products in human, mouse, rat for NKX3-2  
     Browse OriGene qPCR primer pairs and template standards   OriGene Protein Over-expression Lysate for NKX3-2  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for NKX3-2  
     OriGene qSTAR qPCR primer pairs in human, mouse for NKX3-2   OriGene Purified Protein for NKX3-2  
     Browse OriGene ORF clones   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for NKX3-2   OriGene Custom Protein Services for NKX3-2  

     
     
     Block miRNA regulation of human, mouse, rat NKX3-2 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing NKX3-2
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NKX3-2 Predesigned siRNA for gene silencing in human, mouse, rat NKX3-2
     Search QuantiFast Probe-based Assays in human, mouse, rat NKX3-2 QuantiTect SYBR Green Assays in human, mouse, rat NKX3-2
     PCR Arrays including human, mouse, rat NKX3-2 Search Chromatin IP Primers for NKX3-2
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat NKX3-2  Search GeneGlobe Interaction Network for NKX3-2
     Regulatory tfbs in NKX3-2 promoter
     GenScript Custom Purified and Recombinant Proteins Services for NKX3-2 GenScript cDNA clones with any tag delivered in your preferred vector for NKX3-2
     GenScript Custom Assay Services for NKX3-2 GenScript Custom overexpressing Cell Line Services for NKX3-2
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for NKX3-2 (NKX32)
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     NKX3-2 antibodies
     NKX3-2 proteins
     NKX3-2 lysates
     Antibodies for NKX3-2
     See all of Abcam's Antibodies, Kits and Proteins for NKX3-2
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for NKX3-2
     Antibodies for NKX3-2
     ELISAs for NKX3-2
     CLIAs for NKX3-2



     PureStem Progenitors for NKX3-2: PureStem MEL2, NCr-fac Progenitor, PureStem SM30, NCr-fac & Meso-latp Progenitor
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NKX3-2
     SwitchGear 3'UTR luciferase reporter plasmids for NKX3-2
     SwitchGear Promoter luciferase reporter plasmids for NKX3-2
     ThermoFisher Antibodies for NKX3-2
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NKX3-2
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NKX3-2
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for NKX3-2
     LSBio Antibodies in human, mouse, rat for NKX3-2
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
     Search Addgene for plasmids for NKX3-2
      Search eBioscience for proteins for NKX3-2
      Search eBioscience for elisas for NKX3-2
      eBioscience FlowRNA Probe Sets
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 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 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      NKX3-2 gene at Home site.
    Version: 3.12.224 13 Oct 2014
    hostname: 356980-web2.xennexinc.com index build: 128 solr: 1.4