Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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

NKX3-2 Gene

protein-coding   GIFtS: 50
GCID: GC04M013542

NK3 homeobox 2

(Previous name: bagpipe homeobox homolog 1 (Drosophila) )
(Previous symbol: BAPX1)
 Explore 7 diseases affiliated with
NKX3-2 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for NKX3-2    

Aliases
for NKX3-2 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
NK3 Homeobox 21 2     Homeobox Protein NK-3 Homolog B2 3
BAPX11 2 3 5     SMMD2 5
NKX3B1 2 3     Bagpipe Homeobox Homolog 1 (Drosophila)1
NKX3.21 2     Homeobox Protein Nkx-3.22
Bagpipe Homeobox Protein Homolog 12 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


Summaries
for NKX3-2 gene

(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 NKX3-2:
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)

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)




Genomic Views
for NKX3-2 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_000004.11  NC_018915.1  NT_006316.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the NKX3-2 gene promoter:
         Sox9   Arnt   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: NKX3-2 promoter sequence
   Search SABiosciences Chromatin IP Primers for NKX3-2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for NKX3-2 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: NKX32_HUMAN, P78367 (See protein sequence)
Recommended Name: Homeobox protein Nkx-3.2  
Size: 333 amino acids; 34814 Da
Subcellular location: Nucleus (Probable)
Secondary accessions: Q2M2I7

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P78367

    • NKX3-2 Protein expression data from MOPED and PaxDb:    About this image 
    NKX3-2 Protein Expression
    REFSEQ proteins: NP_001180.1  
    ENSEMBL proteins: 
     ENSP00000371875  

    Human Recombinant Protein Products for NKX3-2: 
    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
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate: NKX3-2
    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 ProSpec Recombinant Proteins
    Uscn Proteins for NKX3-2

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

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

    NKX3-2 for ontologies           About GeneDecksing



    NKX3-2 Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for NKX3-2 
    GenScript Custom Superior Antibodies Services for NKX3-2
    Novus Biologicals NKX3-2 Antibodies
    Abcam antibodies for NKX3-2 
    Uscn Antibodies for NKX3-2
    Search ThermoFisher Antibodies for NKX3-2

    Assay Products for NKX3-2: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for NKX3-2
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for NKX3-2

    Protein Domains /
    Families
    for NKX3-2 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    NKX3-2 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 P78367

    ProtoNet protein and cluster: P78367

    1 Blocks protein family: 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


    Function
    for NKX3-2 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, 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, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    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): 2 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:0043565sequence-specific DNA binding IEA--
         
    NKX3-2 for ontologies           About GeneDecksing


    Phenotypes:
         15/17 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  hearing/vestibular/ear  hematopoietic system  immune system  limbs/digits/tail 
     mortality/aging  muscle  nervous system  no phenotypic analysis  normal 

    NKX3-2 for phenotypes           About GeneDecksing

    Animal Models:
         Mouse knock-outs for NKX3-2: Nkx3-2Nkx3-tm1Tlu Nkx3-2Nkx3-tm1Bobh Nkx3-2Nkx3-tm1.1Tlu
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for NKX3-2 

    miRNA
    Products:            		Browse 3'-UTR reporter clones for miRNA target validation
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat NKX3-2
    8/39 QIAGEN miScript miRNA 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 plasmid: NKX3-2 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for NKX3-2
    OriGene shRNA RFP: NKX3-2
    OriGene siRNA: NKX3-2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat NKX3-2
    Sirion Biotech Custom design and validation of potent shRNA sequences against NKX3-2 

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for NKX3-2
    Sirion Biotech Customized adenovirus for overexpression of NKX3-2 
    Sirion Biotech Customized adenovirus for potent knockdown of NKX3-2

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for NKX3-2
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for NKX3-2
    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
    LifeMap BioReagents: cell lines associated with NKX3-2: PureStem MEL2, NCr-fac Progenitor,
    PureStem SM30, NCr-fac & Meso-latp Progenitor
    Sirion Biotech Customized stable knockdown cell line services for NKX3-2 
    Sirion Biotech Customized inducible knockdown cell line services for NKX3-2
    Sirion Biotech Customized stable overexpressing cell line services for NKX3-2
    Sirion Biotech Customized inducible overexpressing cell line services for NKX3-2

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NKX3-2


    Pathways & Interactions
    for NKX3-2 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

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Endochondral Ossification
    		Endochondral Ossification1.00


    1 BioSystems Pathway for NKX3-2 
        Endochondral Ossification


    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for NKX3-2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    5/9 Interacting proteins for NKX3-2 (P783673 ENSP000003718754) via UniProtKB, MINT, STRING, and/or I2D (see all 9)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RBBP4Q090283, ENSP000003625924I2D: score=1 STRING: ENSP00000362592
    HDAC1Q135473, ENSP000003626494I2D: score=1 STRING: ENSP00000362649
    RBBP7Q165763, ENSP000003694274I2D: score=1 STRING: ENSP00000369427
    SIN3AQ96ST33, ENSP000003536224I2D: score=1 STRING: ENSP00000353622
    SMAD1Q157973, ENSP000003057694I2D: score=1 STRING: ENSP00000305769
    About this table

    Gene Ontology (GO): 5/14 biological process terms (GO ID links to tree view) (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001501skeletal system development TAS9344671
    GO:0006366transcription from RNA polymerase II promoter TAS9344671
    GO:0007368determination of left/right symmetry IEA--
    GO:0031016pancreas development IEA--
    GO:0032331negative regulation of chondrocyte differentiation ISS--

    NKX3-2 for ontologies           About GeneDecksing



    Drugs & Compounds
    for NKX3-2 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
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for NKX3-2
    Search CenterWatch for drugs/clinical trials and news about NKX3-2 / NKX32 

    Transcripts
    for NKX3-2 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for 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:             		Browse 3'-UTR reporter clones for miRNA target validation
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat NKX3-2
    8/39 QIAGEN miScript miRNA 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 plasmid: NKX3-2 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for NKX3-2
    OriGene shRNA RFP: NKX3-2
    OriGene siRNA: NKX3-2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat NKX3-2
    Sirion Biotech Custom design and validation of potent shRNA sequences against NKX3-2 
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for NKX3-2
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for NKX3-2
    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 genome-wide validated SYBR primer pairs in human, mouse, rat for NKX3-2
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat NKX3-2
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat NKX3-2
      Search QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NKX3-2

    Additional cDNA sequence: 

    AF009801.1 BC111966.1 

    1 DOTS entry:

    DT.305353 

    5 AceView cDNA sequences:

    NM_001189 AW072750 AF009801 AW073413 BE833010 

    GeneLoc Exon Structure


    Expression
    for NKX3-2 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

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

    NKX3-2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

    10/43 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 43) 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BoneThoracic VertebraeImmature Endochondral OsteoblastsBone
    CartilageRostral SynchondrosesChondrocytesBone, Cartilage
    CartilageSynchondrosesChondrocytesBone, Cartilage
    Head MesenchymeBranchial Arch 2ChondrocytesBone, Cartilage
    PancreasDorsal Pancreatic MesenchymeDorsal Pancreatic Mesenchymal CellsMesoderm
    LimbAutopodMesenchymal Condensate CellsBone, Cartilage
    LimbStylopodMesenchymal Condensate CellsBone, Cartilage
    LimbZeugopodMesenchymal Condensate CellsBone, Cartilage
    SomiteThoracic Distal RibPrechondrocytic Mesenchymal CellsBone, Cartilage
    SomiteThoracic Proximal RibPrechondrocytic Mesenchymal CellsBone, Cartilage
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 4 LifeMap Cells 
    NameCategory
    PureStem™ mesenchymal progenitor SM30 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ mesenchymal progenitor MEL2 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    HyStem+TGF?3+GDF5-induced SM30 cells (HyStem+TGF?3+GDF5 in...)Bone, Cartilage
    HyStem+BMP4-induced 4D20.8 cells (Chondrogenic inducti...)Bone, Cartilage

    See NKX3-2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NKX3-2

    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

        SABiosciences Expression via Pathway-Focused PCR Array including NKX3-2: 
              Apoptosis 384HT in human mouse rat

    Primer
    Products:    		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for NKX3-2
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat NKX3-2
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat NKX3-2
    Search QIAGEN 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
    for NKX3-2 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 NKX3-2 gene from 3/12 species (see all 12)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    		 20(a)
    		 1 ↔ 1
    		 3R(17214605-17216171)


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

    Paralogs
    for NKX3-2 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for NKX3-2 gene
    NKX2-12  HMX32  LBX22  TLX22  NKX3-12  TLX12  NKX2-32  HMX22  
    NKX2-62  NKX2-82  NKX2-52  LBX12  NKX2-22  NKX2-42  HMX12  TLX32  

    NKX3-2 for paralogs           About GeneDecksing



    Genomic Variants
    for NKX3-2 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

    10/87 NCBI SNPs in NKX3-2 are shown (see all 87)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 4 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs38222261,2
    		C,F,A,H--12880326(+) AGGGCA/GGAAGG 1 -- ut31 ese322Minor allele frequency- G:0.20NS EA NA WA CSA 2349
    rs792705901,2
    		C,F--12880522(+) TGTGCG/TCTCTC 1 -- ut311Minor allele frequency- T:0.11WA 118
    rs773305251,2
    		--12880777(+) GCACCC/ACTTGG 1 -- ut311Minor allele frequency- A:0.01WA 118
    rs1140893341,2
    		C,F--12881093(+) CCCTCA/GGGGCA 1 -- ut311Minor allele frequency- G:0.04WA 118
    rs731004521,2
    		C,F--12882349(+) AGAGAC/TATGGA 1 -- int13Minor allele frequency- T:0.10WA CSA 122
    rs1119376601,2
    		C--12882679(+) CTGGGC/GTCTGA 1 -- int10--------
    rs37562121,2
    		C,F,H--12883944(+) CCTTTC/AGCAGC 1 -- us2k1 trp37Minor allele frequency- A:0.02EA NS NA 1314
    rs37562131,2
    		C--12884209(+) GTAGCC/AGCGGC 1 -- us2k12Minor allele frequency- A:0.00NA 4
    rs762904711,2
    		F--12884260(+) CCCCCT/CGCCCT 1 -- us2k11Minor allele frequency- C:0.06WA 118
    rs100072591,2
    		C,F--12884765(+) CTTCAT/CTGCTA 1 -- us2k13Minor allele frequency- C:0.11WA CSA 122

    HapMap Linkage Disequilibrium report for NKX3-2 (13542454 - 13546674 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for NKX3-2: --
    Human Gene Mutation Database (HGMD): NKX3-2

    SABiosciences Cancer Mutation PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing NKX3-2
    DNA2.0 Custom Variant and Variant Library Synthesis for NKX3-2

    Disorders / Diseases
    for NKX3-2 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
    NKX3-2 for disorders           About GeneDecksing

    OMIM gene information: 602183   
    OMIM disorders: 613330  
    UniProtKB/Swiss-Prot: NKX32_HUMAN, P78367
  • Defects in NKX3-2 are the cause of spondylo-megaepiphyseal-metaphyseal dysplasia (SMMD) [MIM:613330]. It is 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 epiphysea ossification centers and wide growth plates in the long tubular bones and
    numerous pseudoepiphyses of the short tubular bones in hands and feet

    7 diseases for NKX3-2:    About MalaCards
    spondylo-megaepiphyseal-metaphyseal dysplasia    metaphyseal dysplasia    treacher collins syndrome    short stature
    goldenhar syndrome    bone osteosarcoma    osteosarcoma

    1 disease from the University of Copenhagen DISEASES database for NKX3-2:
    Metaphyseal dysplasia
    Human Genome Epidemiology (HuGE) Navigator: NKX3-2 (1 document)

    Export disorders for NKX3-2 gene to outside databases

    Publications
    for NKX3-2 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 NKX3-2 gene, integrated from 9 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. (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. (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. (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. (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. (1997)
    6. Indian Hedgehog signalling triggers Nkx3.2 protein deg radation during chondrocyte maturation. (PubMed id 22507129)1 Choi S.W....Kim D.W. (2012)
    7. Exogenous signal-independent nuclear IkappaB kinase a ctivation triggered by Nkx3.2 enables constitutive nuclear degradation of Ikapp aB-alpha in chondrocytes. (PubMed id 21606193)1 Yong Y....Kim D.W. (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. (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. (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. (2002)

    External Searches for NKX3-2 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 NKX3-2 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 579 HGNC: 951 AceView: BAPX1 Ensembl:ENSG00000109705 euGenes: HUgn579
    ECgene: NKX3-2 H-InvDB: NKX3-2

    Other Databases showing NKX3-2 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing NKX3-2 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 NKX3-2 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for NKX3-2 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for 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



    Products
    for NKX3-2 gene

    (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, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, 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)
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot 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 Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Phosphatase Activity Assays/Reagents   Browse Recombinant/Natural Proteins  
     Browse OriGene Antibodies   OriGene shRNA RFP for NKX3-2  
     OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for NKX3-2   OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for NKX3-2  
     OriGene Protein Over-expression Lysate for NKX3-2   Browse OriGene Fluorogenic Cell Assay Kits  
     OriGene siRNA for NKX3-2   Browse 3'-UTR reporter clones for miRNA target validation  
     OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for NKX3-2   OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for NKX3-2  
     Browse OriGene GFP tagged cDNA clones in CMV expression vector   Browse OriGene MicroRNA Expression Plasmids  
     Browse OriGene basic RS shRNAs   Browse OriGene validated miRNA SYBR primer pairs  
     Browse OriGene full length recombinant human proteins expressed in human HEK293 cells   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  
     OriGene Custom Immunoassay Development  

         		 
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat NKX3-2
     Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing NKX3-2
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NKX3-2
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat NKX3-2
     Search QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NKX3-2
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat NKX3-2
     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 Superior Antibodies 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

     Regulatory tfbs in NKX3-2 promoter
     Search Chromatin IP Primers for NKX3-2
     RT2 qPCR Primer Assay in human, mouse, rat NKX3-2
     Search GNC Networks for NKX3-2
     SABiosciences PCR Arrays including human, mouse, rat NKX3-2
     Search Tocris compounds for NKX3-2
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological cDNA Clones
     Antibodies/Proteins Production Services
     Rabbit Monoclonal Antibody Platform
     Bulk Purchasing
     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




     NKX3-2 Proteins, Antibodies, CLIAs, and ELISAs
     Cell Lines associated with 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
     Search ThermoFisher Antibodies for NKX3-2
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NKX3-2
     inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for NKX3-2
    Sirion Biotech Customized:
     stable knockdown cell line services for NKX3-2
     inducible knockdown cell line services for NKX3-2
     design and validation of potent shRNA sequences against NKX3-2
     adenovirus for potent knockdown of NKX3-2
     adenovirus for overexpression of NKX3-2
     stable overexpressing cell line services for NKX3-2
     inducible overexpressing cell line services for NKX3-2
           
    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013 , 14 May 2013

    View Random Gene

    Category
    VWF
    (GIFTS: 73)
    von Willebrand factor
    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 

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

    Copyright © 1996-2013 , Weizmann Institute of Science. All Rights Reserved.
    Hot genes      Disease genes      NKX3-2 gene at Home site.
    hostname: 356977-web1.xennexinc.com index build: 106 solr: 1.4