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NKX2-5 Gene

protein-coding   GIFtS: 57
GCID: GC05M172659

NK2 Homeobox 5

(Previous names: cardiac-specific homeo box, NK2 transcription factor related,...)
(Previous symbols: CSX, NKX2E)
  See NKX2-5-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)
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Aliases
NK2 Homeobox 51 2     NK2 Transcription Factor Related, Locus 5 (Drosophila)1
CSX1 2 3 5     Tinman Paralog (Drosophila)1
NKX2E1 2 3 5     CSX12
Homeobox Protein CSX2 3     NKX4-12
Homeobox Protein NK-2 Homolog E2 3     Cardiac-Specific Homeobox 12
NKX2.52 3     Homeobox Protein Nkx-2.52
CHNG52 5     NK2 Transcription Factor Related, Locus 52
HLHS22 5     Tinman Paralog2
VSD32 5     Cardiac-Specific Homeobox3
Cardiac-Specific Homeo Box1     

External Ids:    HGNC: 24881   Entrez Gene: 14822   Ensembl: ENSG000001830727   OMIM: 6005845   UniProtKB: P529523   

Export aliases for NKX2-5 gene to outside databases

Previous GC identifers: GC05M172916 GC05M173360 GC05M172594 GC05M172640 GC05M172591 GC05M167754


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for NKX2-5 Gene:
This gene encodes a homeobox-containing transcription factor. This transcription factor functions in heart
formation and development. Mutations in this gene cause atrial septal defect with atrioventricular conduction
defect, and also tetralogy of Fallot, which are both heart malformation diseases. Mutations in this gene can also
cause congenital hypothyroidism non-goitrous type 5, a non-autoimmune condition. Alternative splicing results in
multiple transcript variants. (provided by RefSeq, Oct 2009)

GeneCards Summary for NKX2-5 Gene:
NKX2-5 (NK2 homeobox 5) is a protein-coding gene. Diseases associated with NKX2-5 include tetrology of fallot, and atrioventricular block. 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: NKX25_HUMAN, P52952
Function: Implicated in commitment to and/or differentiation of the myocardial lineage. Acts as a transcriptional
activator of ANF in cooperation with GATA4 (By similarity). It is transcriptionally controlled by PBX1 and acts
as a transcriptional repressor of CDKN2B (By similarity). It is required for spleen development

Gene Wiki entry for NKX2-5 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000005.9  NT_023133.14  NC_018916.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the NKX2-5 gene promoter:
         AREB6   MyoD   Nkx2-5   ITF-2   Tal-1beta   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNKX2-5 promoter sequence
   Search Chromatin IP Primers for NKX2-5

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NKX2-5


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

Entrez Gene cytogenetic band: 5q34   Ensembl cytogenetic band:  5q35.1   HGNC cytogenetic band: 5q34

NKX2-5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NKX2-5 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M172659:  view genomic region     (about GC identifiers)

Start:
172,659,107 bp from pter      End:
172,662,360 bp from pter
Size:
3,254 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., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: NKX25_HUMAN, P52952 (See protein sequence)
Recommended Name: Homeobox protein Nkx-2.5  
Size: 324 amino acids; 34918 Da
Subunit: Interacts with HIPK1 and HIPK2, but not HIPK3. Interacts with the C-terminal zinc finger of GATA4 through
its homeobox domain. Also interacts with JARID2 which represses its ability to activate transcription of ANF.
Interacts with FBLIM1 (By similarity)
1 PDB 3D structure from and Proteopedia for NKX2-5:
3RKQ (3D)    
Secondary accessions: A8K3K0 B4DNB6 E9PBU6
Alternative splicing: 3 isoforms:  P52952-1   P52952-2   P52952-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for NKX2-5: NX_P52952

Explore proteomics data for NKX2-5 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See NKX2-5 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001159647.1  NP_001159648.1  NP_004378.1  

    ENSEMBL proteins: 
     ENSP00000327758   ENSP00000395378   ENSP00000427906   ENSP00000429905  

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    antibodies-online peptides for NKX2-5

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    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 P52952

    ProtoNet protein and cluster: P52952

    UniProtKB/Swiss-Prot: NKX25_HUMAN, P52952
    Similarity: Belongs to the NK-2 homeobox family
    Similarity: Contains 1 homeobox DNA-binding domain


    Find genes that share domains with NKX2-5           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NKX25_HUMAN, P52952
    Function: Implicated in commitment to and/or differentiation of the myocardial lineage. Acts as a transcriptional
    activator of ANF in cooperation with GATA4 (By similarity). It is transcriptionally controlled by PBX1 and acts
    as a transcriptional repressor of CDKN2B (By similarity). It is required for spleen development

         Gene Ontology (GO): Selected molecular function terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001104RNA polymerase II transcription cofactor activity IEA--
    GO:0001190RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription IEA--
    GO:0003677DNA binding IDA9858576
    GO:0003682chromatin binding IDA16678093
    GO:0003700sequence-specific DNA binding transcription factor activity IMP11431700
         
    Find genes that share ontologies with NKX2-5           About GenesLikeMe


    Phenotypes:
         15 MGI mutant phenotypes (inferred from 10 alleles(MGI details for Nkx2-5):
     cardiovascular system  cellular  craniofacial  embryogenesis  growth/size/body 
     hematopoietic system  homeostasis/metabolism  immune system  integument  mortality/aging 
     muscle  nervous system  no phenotypic analysis  normal  respiratory system 

    Find genes that share phenotypes with NKX2-5           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Nkx2-5Nkx2-tm1Wehi for NKX2-5

       genOway: Develop your customized and physiologically relevant rodent model for NKX2-5

    Transcription Factor Targeting: 
    Targeting motifs: HOMER Transcription Factor Regulatory Elements motif viewer 
                                          Consensus sequence:  AASCACTCAA 

    miRNA
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    miRTarBase miRNAs that target NKX2-5:
    hsa-mir-26a-5p (MIRT050106), hsa-mir-615-3p (MIRT039794), hsa-mir-324-5p (MIRT043120), hsa-mir-26b-5p (MIRT030022)

    Block miRNA regulation of human, mouse, rat NKX2-5 using miScript Target Protectors
    3 qRT-PCR Assays for microRNAs that regulate NKX2-5:
    hsa-miR-600 hsa-miR-130b* hsa-miR-3120-3p
    SwitchGear 3'UTR luciferase reporter plasmidNKX2-5 3' UTR sequence
    Inhib. RNA
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    eBioscience FlowRNA Probe Sets ( VA6-11428) for NKX2-5 


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    NKX25_HUMAN, P52952: Nucleus (Probable)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus4
    cytoskeleton1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA10948187
    GO:0005667transcription factor complex IC9312027
    GO:0005737cytoplasm IEA--

    Find genes that share ontologies with NKX2-5           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).
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    SuperPaths for NKX2-5 About   (see all 10)  
    See pathways by source

    SuperPathContained pathways About
    1NFAT and Cardiac Hypertrophy
    NFAT and Cardiac Hypertrophy0.42
    Signaling Involved in Cardiac Hypertrophy0.42
    2Human Embryonic Stem Cell Pluripotency
    Factors Promoting Cardiogenesis in Vertebrates0.50
    3DREAM Repression and Dynorphin Expression
    BMP Pathway0.44
    4Wnt / Hedgehog / Notch
    Wnt / Hedgehog / Notch
    5SRF and miRs in Smooth Muscle Differentiation and Proliferation
    SRF and miRs in Smooth Muscle Differentiation and Proliferation


    Find genes that share SuperPaths with NKX2-5           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for NKX2-5 (see all 6)
        BMP Pathway
    Cardiomyocyte Differentiation through BMP Receptors
    Factors Promoting Cardiogenesis in Vertebrates
    HOP Signaling
    NFAT and Cardiac Hypertrophy

    1 Cell Signaling Technology (CST) Pathway for NKX2-5
        Wnt / Hedgehog / Notch

    4 BioSystems Pathways for NKX2-5
        Heart Development
    Cardiac Progenitor Differentiation
    SRF and miRs in Smooth Muscle Differentiation and Proliferation
    Regulation of nuclear SMAD2/3 signaling



        Pathway & Disease-focused RT2 Profiler PCR Array including NKX2-5: 
              Circadian Rhythms in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for NKX2-5

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

    Selected Interacting proteins for NKX2-5 (P529521, 3 ENSP000003277584) via UniProtKB, MINT, STRING, and/or I2D (see all 32)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    JARID2Q928333, ENSP000003412804I2D: score=3 STRING: ENSP00000341280
    ID3Q025353, ENSP000003636894I2D: score=1 STRING: ENSP00000363689
    SMARCA4P515323, ENSP000003507204I2D: score=1 STRING: ENSP00000350720
    GATA4P436943, ENSP000003344584I2D: score=5 STRING: ENSP00000334458
    CAMTA2O949833, ENSP000003218134I2D: score=3 STRING: ENSP00000321813
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 65):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter ISS8900537
    GO:0001570vasculogenesis ISS8900537
    GO:0001947heart looping ISS8900537
    GO:0003007heart morphogenesis ISS8900537
    GO:0003148outflow tract septum morphogenesis IMP--

    Find genes that share ontologies with NKX2-5           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)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for NKX2-5 (NKX25)

    3 Novoseek inferred chemical compound relationships for NKX2-5 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    zinc 24.8 4 11501944 (1), 9584153 (1), 11348034 (1)
    serine 11.1 1 20021795 (1)
    nitric oxide 0 3 19020077 (2), 17253941 (1)



    Find genes that share compounds with NKX2-5           About GenesLikeMe



    (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 )
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    REFSEQ mRNAs for NKX2-5 gene (3 alternative transcripts): 
    NM_001166175.1  NM_001166176.1  NM_004387.3  

    Unigene Cluster for NKX2-5:

    NK2 homeobox 5
    Hs.54473  [show with all ESTs]
    Unigene Representative Sequence: NM_001166175
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000329198(uc010jjt.2 uc003mcm.2 uc011dfe.2) ENST00000424406
    ENST00000521848 ENST00000517440
    miRNA
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    Additional mRNA sequence: 

    AB021133.1 AK290615.1 AK297844.1 AK307218.1 AK307247.1 AK307249.1 AK309495.1 BC025711.1 
    U34962.1 

    2 DOTS entries:

    DT.300170  DT.120890792 

    Selected AceView cDNA sequences (see all 27):

    BC025711 BP340186 BP338437 U34962 NM_004387 AU119953 AB021133 AI337523 
    BG115100 AI936496 AI609745 BF510466 BI834117 CB130875 AW665197 BX109224 
    W19352 AI478839 BM919051 BP337959 AA722525 BI835590 AU146160 BG115223 

    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)
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    NKX2-5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGCACCCCCG
    NKX2-5 Expression
    About this image


    NKX2-5 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 15) fully expand
     
     Heart (Cardiovascular System)    fully expand to see all 40 entries
             Atrioventricular Valve Cells Atrioventricular Valves
             Cardiac progenitor cells (c-kit+)
             Cardiomyocyte-like cells
     
     NULL (Uncategorized)    fully expand to see all 15 entries
             Floating colonies of cardiomyocytes
     
     Mesoderm (Gastrulation Derivatives)    fully expand to see all 4 entries
             Cardiac Progenitor Cells Mesoderm
             Early mesoderm cells
     
     Blood (Cardiovascular System)    fully expand to see all 3 entries
             Hemangioblasts Posterior Primitive Streak
             Peripheral blood-derived hematopoietic stem cells
     
     Lateral Plate Mesoderm (Gastrulation Derivatives)    fully expand to see all 2 entries
             Splanchnic Mesoderm Cells Splanchnic Mesoderm
    NKX2-5 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NKX2-5 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.54473

    UniProtKB/Swiss-Prot: NKX25_HUMAN, P52952
    Tissue specificity: Expressed only in the heart

        Pathway & Disease-focused RT2 Profiler PCR Array including NKX2-5: 
              Circadian Rhythms in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NKX2-5

    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for NKX2-5 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nkx2-51 , 5 NK2 transcription factor related, locus 5 (Drosophila)5
    NK2 homeobox 51
    86.06(n)1
    89.31(a)1
      17 (13.60 cM)5
    180911  NM_008700.21  NP_032726.11 
     268386645 
    chicken
    (Gallus gallus)
    Aves NKX2-51 NK2 transcription factor related, locus 5 (Drosophila) 70.75(n)
    70.41(a)
      396073  NM_205164.1  NP_990495.1 
    lizard
    (Anolis carolinensis)
    Reptilia NKX2-56
    NK2 homeobox 5
    58(a)
    1 ↔ 1
    2(124629108-124638512)
    African clawed frog
    (Xenopus laevis)
    Amphibia nkx2.5-prov2 NK2 transcription factor related 5 74.21(n)    BC056048.1 
    zebrafish
    (Danio rerio)
    Actinopterygii nkx2.51 NK2 transcription factor related 5 59.96(n)
    57.76(a)
      30696  NM_131421.1  NP_571496.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta tin6
    tinman
    19(a)
    1 → many
    3R(17204701-17207692)
    worm
    (Caenorhabditis elegans)
    Secernentea ceh-286
    Protein CEH-28 (ceh-28) mRNA, complete cds
    34(a)
    1 → many
    X(13074682-13076092) WBGene00000450


    ENSEMBL Gene Tree for NKX2-5 (if available)
    TreeFam Gene Tree for NKX2-5 (if available)

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

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    Paralogs for NKX2-5 gene
    NKX2-12  NKX6-12  HMX32  TLX22  NKX3-12  TLX12  NKX2-32  HMX22  
    NKX6-32  NKX3-22  NKX6-22  NKX2-62  NKX2-82  NKX2-22  NKX2-42  HMX12  
    TLX32  
    Selected SIMAP similar genes for NKX2-5 using alignment to 8 protein entries:     NKX25_HUMAN (see all proteins) (see all similar genes):
    NKX2-6    BARX2    MNX1    HPX-6    DLX1    NKX2-3
    DLX6    HMX2    BARHL1    NANOGP8    DLX2    HOXD12
    HLX    NOTO    HOXA4    DLX3    MSX1    NKX2-8

    Find genes that share paralogs with NKX2-5           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

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    Selected SNPs for NKX2-5 (see all 211)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289366701,2,,4
    C,FTetralogy of Fallot (TOF)4 pathogenic1172889163(-) AGCAGC/TGCAGC 6 R C mis1 ese34Minor allele frequency- T:0.01WA NA EU 5017
    VAR_0382464
    Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7)4--see VAR_0382462 A V mis40--------
    VAR_0382174
    Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7)4--see VAR_0382172 S P mis40--------
    VAR_0382534
    Tetralogy of Fallot (TOF)4--see VAR_0382532 A T mis40--------
    VAR_0382294
    Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7)4--see VAR_0382292 A T mis40--------
    VAR_0382394
    Tetralogy of Fallot (TOF)4--see VAR_0382392 R C mis40--------
    VAR_0101174
    Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7)4--see VAR_0101172 N K mis40--------
    VAR_0382424
    Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7)4--see VAR_0382422 Y H mis40--------
    VAR_0382434
    Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7)4--see VAR_0382432 P T mis40--------
    VAR_0382364
    Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7)4--see VAR_0382362 K T mis40--------

    HapMap Linkage Disequilibrium report for NKX2-5 (172659107 - 172662360 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for NKX2-5: --
    Human Gene Mutation Database (HGMD): NKX2-5
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing NKX2-5
    DNA2.0 Custom Variant and Variant Library Synthesis for NKX2-5

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 600584   
    OMIM disorders: 108900  187500  225250  614432  614435  217095  
    UniProtKB/Swiss-Prot: NKX25_HUMAN, P52952
  • Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) [MIM:108900]: A
    congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in
    blood flow from the left to the right atria, and atrioventricular conduction defects in some cases. Note=The
    disease is caused by mutations affecting the gene represented in this entry
  • Tetralogy of Fallot (TOF) [MIM:187500]: A congenital heart anomaly which consists of pulmonary stenosis,
    ventricular septal defect, dextroposition of the aorta (aorta is on the right side instead of the left) and
    hypertrophy of the right ventricle. In this condition, blood from both ventricles (oxygen-rich and oxygen-poor)
    is pumped into the body often causing cyanosis. Note=The disease is caused by mutations affecting the gene
    represented in this entry
  • Conotruncal heart malformations (CTHM) [MIM:217095]: A group of congenital heart defects involving the
    outflow tracts. Examples include truncus arteriosus communis, double-outlet right ventricle and transposition of
    great arteries. Truncus arteriosus communis is characterized by a single outflow tract instead of a separate
    aorta and pulmonary artery. In transposition of the great arteries, the aorta arises from the right ventricle and
    the pulmonary artery from the left ventricle. In double outlet of the right ventricle, both the pulmonary artery
    and aorta arise from the right ventricle. Note=The disease is caused by mutations affecting the gene represented
    in this entry
  • Hypothyroidism, congenital, non-goitrous, 5 (CHNG5) [MIM:225250]: A non-autoimmune condition
    characterized by resistance to thyroid-stimulating hormone (TSH) leading to increased levels of plasma TSH and
    low levels of thyroid hormone. CHNG5 presents variable severity depending on the completeness of the defect. Most
    patients are euthyroid and asymptomatic, with a normal sized thyroid gland. Only a subset of patients develop
    hypothyroidism and present a hypoplastic thyroid gland. Note=The disease is caused by mutations affecting the
    gene represented in this entry
  • Ventricular septal defect 3 (VSD3) [MIM:614432]: A common form of congenital cardiovascular anomaly that
    may occur alone or in combination with other cardiac malformations. It can affect any portion of the ventricular
    septum, resulting in abnormal communications between the two lower chambers of the heart. Classification is based
    on location of the communication, such as perimembranous, inlet, outlet (infundibular), central muscular,
    marginal muscular, or apical muscular defect. Large defects that go unrepaired may give rise to cardiac
    enlargement, congestive heart failure, pulmonary hypertension, Eisenmenger's syndrome, delayed fetal brain
    development, arrhythmias, and even sudden cardiac death. Note=The disease is caused by mutations affecting the
    gene represented in this entry
  • Hypoplastic left heart syndrome 2 (HLHS2) [MIM:614435]: A syndrome due to defective development of the
    aorta proximal to the entrance of the ductus arteriosus, and hypoplasia of the left ventricle and mitral valve.
    As a result of the abnormal circulation, the ductus arteriosus and foramen ovale are patent and the right atrium,
    right ventricle, and pulmonary artery are enlarged. Note=The disease is caused by mutations affecting the gene
    represented in this entry
  • Asplenia, isolated congenital (ICAS) [MIM:271400]: A rare primary immunodeficiency and life-threatening
    condition, often presenting with pneumococcal sepsis. Most affected individuals die of severe bacterial
    infections in early childhood. Isolated asplenia is distinct from asplenia associated with other complex visceral
    defects, notably heterotaxy syndromes such as Ivemark syndrome. Note=The disease is caused by mutations affecting
    the gene represented in this entry

  • Selected diseases for NKX2-5 (see all 31):    
    About MalaCards
    tetrology of fallot    atrioventricular block    patent foramen ovale    ventricular septal defect 3
    atrial septal defect 7, with or without av conduction defects    hypothyroidism, congenital nongoitrous, 5    hypertrophic pyloric stenosis    single ventricular septal defect
    asplenia, isolated congenital    hypoplastic left heart syndrome 2    ventricular septal defect    conotruncal heart malformations, variable
    pyloric stenosis    heart septal defect    syncope    ebstein anomaly
    atrial heart septal defect    hypoplastic left heart syndrome    hypoplastic left heart syndrome 1    heart block, progressive, type ia

    5 diseases from the University of Copenhagen DISEASES database for NKX2-5:
    Atrial heart septal defect     Ventricular septal defect     Heart disease     Tetralogy of Fallot
    Congenital hypothyroidism

    Find genes that share disorders with NKX2-5           About GenesLikeMe

    Selected Novoseek inferred disease relationships for NKX2-5 gene (see all 16)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    atrial septal defects 76.4 16 19049681 (3), 15810002 (2), 10587520 (1), 11073884 (1) (see all 10)
    congenital heart disease 76.4 14 19073351 (2), 15161646 (2), 15368343 (1), 17668378 (1) (see all 12)
    defect conduction 76.2 3 15368343 (2), 15109497 (1)
    heart defects congenital 73.7 19 17891434 (4), 10587520 (3), 19073351 (2), 17685485 (2) (see all 8)
    septal defect 63.5 2 19073351 (1), 18076106 (1)
    atrioventricular block 61.2 12 15810002 (3), 10587520 (2), 15368343 (1), 17184575 (1) (see all 6)
    ventricular septal defects 56.7 2 20137692 (1), 19933292 (1)
    foramen ovale patent 48.8 1 19464101 (1)
    t-all 45.3 12 16531254 (4), 19835636 (1), 17308084 (1)
    atrioventricular septal defect 43 1 15161646 (1)

    Genetic Association Database (GAD): NKX2-5
    Human Genome Epidemiology (HuGE) Navigator: NKX2-5 (28 documents)

    Export disorders for NKX2-5 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

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    PubMed articles for NKX2-5 gene, integrated from 10 sources (see all 200):
    (articles sorted by number of sources associating them with NKX2-5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning, chromosomal mapping, and characterization of the human cardiac-specific homeobox gene hCsx. (PubMed id 8900537)1, 2, 3, 9 Turbay D.... Izumo S. (Mol. Med. 1996)
    2. [Mutation of NKX2-5 gene in patients with atrial septal defect]. (PubMed id 20021795)1, 4, 9 Liu X.Y....Chen Y.H. (Zhonghua Er Ke Za Zhi 2009)
    3. NKX2.5 mutations in patients with non-syndromic congenital heart disease. (PubMed id 19073351)1, 4, 9 Gioli-Pereira L....Krieger J.E. (Int. J. Cardiol. 2010)
    4. GATA4 and NKX2.5 gene analysis in Chinese Uygur patients with congenital heart disease. (PubMed id 19302747)1, 4, 9 Zhang W.M....Li Z.Z. (Chin. Med. J. 2009)
    5. The effect of p.Arg25Cys alteration in NKX2-5 on conotruncal heart anomalies: mutation or polymorphism? (PubMed id 17891434)1, 4, 9 AkAsaboy M.I....Tekin M. (Pediatr Cardiol 2008)
    6. Assignment of cardiac homeobox gene CSX to human chromosome 5q34. (PubMed id 7665173)1, 3, 9 Shiojima I....Yazaki Y. (Genomics 1995)
    7. [Preliminary exploration of transcription factor Nkx2.5 mutations and congenital heart diseases]. (PubMed id 19595143)1, 4, 9 Ding J.D....Ma G.S. (Zhonghua Yi Xue Za Zhi 2009)
    8. [Novel NKX2-5 mutations identified in patients with congenital ventricular septal defects]. (PubMed id 20137692)1, 4, 9 Liu X.Y....Chen Y.H. (Zhonghua Yi Xue Za Zhi 2009)
    9. Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways. (PubMed id 10587520)1, 2, 9 Benson D.W.... Kugler J.D. (J. Clin. Invest. 1999)
    10. Genome-wide association study of PR interval. (PubMed id 20062060)1, 4, 9 Pfeufer A....Heckbert S.R. (Nat. Genet. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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)
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    Entrez Gene: 1482 HGNC: 2488 AceView: NKX2-5 Ensembl:ENSG00000183072 euGenes: HUgn1482
    ECgene: NKX2-5 H-InvDB: NKX2-5

    (According to HUGE)
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      --

    (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

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    NameDescription
    PharmGKB entry for NKX2-5 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for NKX2-5 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=NKX2-5[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for NKX2-5 gene:
    Search GeneIP for patents involving NKX2-5

    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, eBioscience, antibodies-online, 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
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