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

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

Aliases
NK2 Homeobox 51 2     CSX12
CSX1 2 3 5     HLHS22
NKX2E1 2 3 5     NKX4-12
Homeobox Protein CSX2 3     VSD32
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
Cardiac-Specific Homeo Box1     Tinman Paralog2
NK2 Transcription Factor Related, Locus 5 (Drosophila)1     Cardiac-Specific Homeobox3
Tinman Paralog (Drosophila)1     

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

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 tetralogy of fallot, and patent foramen ovale, and among its related super-pathways are Signaling Involved in Cardiac Hypertrophy and Human Embryonic Stem Cell Pluripotency. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NT_023133.13  NC_018916.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for NKX2-5

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: 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)
Subcellular location: Nucleus (Probable)
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P52952

  • NKX2-5 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    NKX2-5 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001159647.1  NP_001159648.1  NP_004378.1  

    ENSEMBL proteins: 
     ENSP00000327758   ENSP00000395378   ENSP00000427906   ENSP00000429905  

    Human Recombinant Protein Products for NKX2-5: 
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    Cloud-Clone Corp. Proteins for NKX2-5 

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

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

    NKX2-5 for ontologies           About GeneDecksing



    NKX2-5 Antibody Products: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    NKL: Homeoboxes / ANTP class : NKL subclass

    4 InterPro protein domains:
     IPR020479 Homeobox_metazoa
     IPR017970 Homeobox_CS
     IPR001356 Homeodomain
     IPR009057 Homeodomain-like

    Graphical View of Domain Structure for InterPro Entry 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


    NKX2-5 for domains           About GeneDecksing


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

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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): 5/13 molecular function terms (GO ID links to tree view) (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
         
    NKX2-5 for ontologies           About GeneDecksing


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

    NKX2-5 for phenotypes           About GeneDecksing

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

       inGenious Targeting Laboratory - Custom generated mouse model solutions for NKX2-5 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for NKX2-5 
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    miRNA
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    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for NKX2-5 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

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5/6 Downloadable PowerPoint Slides of QIAGEN 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
    SRF and miRs in Smooth Muscle Differentiation and Proliferation
    Cardiac Progenitor Differentiation
    Regulation of nuclear SMAD2/3 signaling



    NKX2-5 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for NKX2-5

    STRING Interaction Network Preview (showing 5 interactants - click image to see 19)

    5/21 Interacting proteins for NKX2-5 (P529521, 3 ENSP000003277584) via UniProtKB, MINT, STRING, and/or I2D (see all 21)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    JARID2Q928333, ENSP000003412804I2D: score=3 STRING: ENSP00000341280
    ID3Q025353, ENSP000003636894I2D: score=1 STRING: ENSP00000363689
    GATA4P436943, ENSP000003344584I2D: score=5 STRING: ENSP00000334458
    FOXH1O755933, ENSP000003665344I2D: score=3 STRING: ENSP00000366534
    CAMTA2O949833, ENSP000003218134I2D: score=3 STRING: ENSP00000321813
    About this table

    Gene Ontology (GO): 5/65 biological process terms (GO ID links to tree view) (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--

    NKX2-5 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    NKX2-5 for compounds           About GeneDecksing

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

    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)

    Search CenterWatch for drugs/clinical trials and news about NKX2-5 / NKX25

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

    REFSEQ mRNAs for NKX2-5 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

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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 

    24/27 AceView cDNA sequences (see all 27):

    BP340186 BP338437 U34962 BC025711 NM_004387 BG115100 AU119953 AI337523 
    BI834117 AB021133 AW665197 AI936496 AI609745 BF510466 CB130875 BM919051 
    W19352 BX109224 AI478839 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    NKX2-5 expression in normal human tissues (normalized intensities)      NKX2-5 embryonic expression: see
    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 
     5/16 selected tissues (see all 16) fully expand
     
     Heart (Cardiovascular System)    fully expand to see all 28 entries
             Cardiomyocytes Left Atrium
             Cardiac progenitor cells (Sca1+)
             Cardiomyocyte-like cells ( Spontaneous differentiation of cardiomyocytes and further...
             atrial myocardium   
     
     Mesoderm (Gastrulation Derivatives)    fully expand to see all 4 entries
             Cardiac Progenitor Cells Mesoderm
             Mesoderm-like cells ( Derivation of cardiomyocytes from pluripotent stem cells and...
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 4 entries
             Mononuclear Myocytes Hyoid Arch Muscles
     
     Gut Tube (Gastrointestinal Tract)    fully expand to see all 2 entries
             Foregut
             Primitive gut tube-like cells ( A scalable, suspension protocol for derivation of...
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Metencephalon
             brain/midbrain/lateral wall   

    See NKX2-5 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NKX2-5

    SOURCE GeneReport for Unigene cluster: Hs.54473

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

        SABiosciences Expression via Pathway-Focused 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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for NKX2-5 gene from 6/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nkx2-51 , 5 NK2 transcription factor related, locus 5 (Drosophila)1, 5 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) 70.86(n)
    71.77(a)
      396073  NM_205164.1  NP_990495.1 
    lizard
    (Anolis carolinensis)
    Reptilia NKX2-36
    NKX2-56
    Uncharacterized protein
    77(a)
    53(a)
    possible ortholog
    1 ↔ 1
    3(38400551-38400946)
    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 59.25(n)
    57.81(a)
      30696  NM_131421.1  NP_571496.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta tin6
    tinman
    16(a)
    1 → many
    3R(17204701-17207692)


    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
    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  
    18/54 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    PRRX2    DLX3    MSX1

    NKX2-5 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/211 SNPs in NKX2-5 are shown (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
    ----------
    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--------
    VAR_0037524
    Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7)4--see VAR_0037522 T M 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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 600584   
    OMIM disorders: 108900  187500  225250  
    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

  • 20/36 diseases for NKX2-5 (see all 36):    About MalaCards
    tetralogy of fallot    patent foramen ovale    ventricular septal defect    ebstein anomaly
    atrial septal defect with atrioventricular conduction defects    hypothyroidism, congenital nongoitrous, 5    atrial heart septal defect    tetrology of fallot
    syncope    hypoplastic left heart syndrome    heart septal defect    wolff-parkinson-white syndrome
    isolated nonsyndromic congenital heart disease/defects    holt-oram syndrome    double outlet right ventricle    atrioventricular septal defect
    congenital heart defect    transposition of the great arteries    hypothyroidism    heterotaxy

    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

    NKX2-5 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/16 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

    PubMed articles for NKX2-5 gene, integrated from 9 sources (see all 194):
    (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. (1996)
    2. [Mutation of NKX2-5 gene in patients with atrial sept al defect] (PubMed id 20021795)1, 4, 9 Liu X.Y....Chen Y.H. (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. (2008)
    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. (2009)
    5. The effect of p.Arg25Cys alteration in NKX2-5 on conotruncal heart anomalies: mutation or polymorphism? (PubMed id 17891434)1, 4, 9 Akcaboy M.I....Tekin M. (2008)
    6. Assignment of cardiac homeobox gene CSX to human chromosome 5q34. (PubMed id 7665173)1, 3, 9 Shiojima I....Yazaki Y. (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. (2009)
    8. [Novel NKX2-5 mutations identified in patients with c ongenital ventricular septal defects] (PubMed id 20137692)1, 4, 9 Liu X.Y....Chen Y.H. (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. (1999)
    10. Genome-wide association study of PR interval. (PubMed id 20062060)1, 4, 9 Pfeufer A....Heckbert S.R. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
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    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
    Entrez Gene: 1482 HGNC: 2488 AceView: NKX2-5 Ensembl:ENSG00000183072 euGenes: HUgn1482
    ECgene: NKX2-5 H-InvDB: NKX2-5

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for NKX2-5 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for NKX2-5 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/NKX2-5

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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