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

NKX2-5 Gene

protein-coding   GIFtS: 56
GCID: GC05M172659

NK2 homeobox 5

(Previous names: cardiac-specific homeo box, NK2 transcription factor related,...)
(Previous symbols: CSX, NKX2E)
 Explore 34 diseases affiliated with
NKX2-5 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for NKX2-5    

Aliases
for NKX2-5 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
NK2 Homeobox 51 2     Cardiac-Specific Homeo Box1
CSX1 2 3 5     NK2 Transcription Factor Related, Locus 5 (Drosophila)1
NKX2E1 2 3 5     HLHS22
NKX2.51 2 3     VSD32
CSX11 2     Cardiac-Specific Homeobox 12
NKX4-11 2     Homeobox Protein Nkx-2.52
Homeobox Protein CSX2 3     NK2 Transcription Factor Related, Locus 52
Homeobox Protein NK-2 Homolog E2 3     Tinman Paralog2
CHNG52 5     Cardiac-Specific Homeobox3

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


Summaries
for NKX2-5 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 NKX2-5:
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)

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)

Gene Wiki entry for NKX2-5


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NC_018916.1  NT_023133.13  
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 plasmid: NKX2-5 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

Proteins
for NKX2-5 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: 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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P52952

    • NKX2-5 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000327758   ENSP00000395378   ENSP00000427906   ENSP00000429905  

    Human Recombinant Protein Products: 
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    Novus Biologicals NKX2-5 Protein
    Novus Biologicals NKX2-5 Lysates
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    Browse ProSpec Recombinant Proteins
    Uscn 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 IDA9858576
    GO:0005667transcription factor complex IC9312027
    GO:0005737cytoplasm IEA--


    NKX2-5 for ontologies           About GeneDecksing



    NKX2-5 Antibody Products: 
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    Uscn Antibodies for NKX2-5
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    Uscn ELISAs and CLIAs for NKX2-5

    Protein Domains /
    Families
    for NKX2-5 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    NKX2-5 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 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


    Function
    for NKX2-5 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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)

    miRNA
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    hsa-miR-600 hsa-miR-130b* hsa-miR-3120-3p
    SwitchGear 3'UTR luciferase reporter plasmid: NKX2-5 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    Cell Line
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    Search LifeMap BioReagents cell lines for NKX2-5

    In Situ Assay
    Products:       
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    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


    Animal Models:
         Mouse knock-out Nkx2-5Nkx2-tm1Wehi for NKX2-5
         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


    Pathways & Interactions
    for NKX2-5 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 - 5/9 super-pathways (see all 9) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1NFAT and Cardiac Hypertrophy
    		NFAT and Cardiac Hypertrophy1.00
    		Signaling Involved in Cardiac Hypertrophy0.42
    2Wnt / Hedgehog / Notch
    		Wnt / Hedgehog / Notch1.00
    3Cardiomyocyte Differentiation through BMP Receptors
    		Cardiomyocyte Differentiation through BMP Receptors1.00
    4SRF and miRs in Smooth Muscle Differentiation and Proliferation
    		SRF and miRs in Smooth Muscle Differentiation and Proliferation1.00
    5HOP Signaling
    		HOP Signaling1.00

    Pathway sources
    See GeneCards unified pathways
    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

    3 BioSystems Pathways for NKX2-5 
        SRF and miRs in Smooth Muscle Differentiation and Proliferation
    Heart Development
    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): 5/68 biological process terms (GO ID links to tree view) (see all 68):    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



    Drugs & Compounds
    for NKX2-5 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

    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
    3 Novoseek 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 

    Transcripts
    for NKX2-5 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, 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 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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    3 QIAGEN miScript miRNA Assays for microRNAs that regulate NKX2-5:
    hsa-miR-600 hsa-miR-130b* hsa-miR-3120-3p
    SwitchGear 3'UTR luciferase reporter plasmid: NKX2-5 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for NKX2-5
    OriGene shRNA RFP: NKX2-5
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    Clone
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    Primer
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    Additional cDNA 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 U34962 BC025711 BP338437 NM_004387 BI834117 AW665197 AB021133 
    BF510466 BG115100 AI337523 AI609745 AI936496 AU119953 CB130875 AI478839 
    BP337959 BM919051 BX109224 W19352 AA722525 AU146160 BI835590 BG115223 

    GeneLoc Exon Structure


    Expression
    for NKX2-5 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

    NKX2-5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GGCACCCCCG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    NKX2-5 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10/24 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 24) 
    Tissue Anatomical Compartment CellCategory (developmental path)
    HeartAtrioventricular NodeAtrioventricular Node CellsMyocardium
    HeartAtrioventricular ValvesAtrioventricular Valve CellsEndocardium, Myocardium
    HeartCardiac CrescentCardiac Crescent CellsMyocardium
    HeartFast Conducting SystemVentricular Conductive CellsMyocardium
    HeartHeart TubeHeart Tube CellsMyocardium
    HeartLeft AtriumCardiomyocytesMyocardium
    HeartLeft VentricleCardiomyocytesMyocardium
    HeartMyocardiumCardiomyocytesMyocardium
    HeartMyocardiumCardiomyocytes Progenitor CellsMyocardium
    HeartOutflow TractCardiomyocytesMyocardium
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 10/18 LifeMap Cells (see all 18) 
    NameCategory
    PureStem™ progenitor T42 (Embryonic Progenitor Cell)
    Lateral plate mesoderm (Generation of human ...)
    Early mesoderm cells (Generation of human ...)
    Cardiomyocyte-like cells (Cardiomyocyte genera...)
    Cardiac mesoderm embryoid bodies (Cardiomyocyte genera...)
    Mesoderm-like cells (Derivation of cardio...)
    Cardiomyocyte-like progenitor cells (Derivation of cardio...)
    DKK1-induced cells (Derivation of cardio...)
    Cardiomyocytes-like cells (Promotion of cardiom...)
    Beating embryoid bodies (Cardiac differentiat...)

    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

    Primer
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    In Situ
    Assay Products:     
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    Orthologs
    for NKX2-5 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 NKX2-5 gene from 6/19 species (see all 19)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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 NKX2-56
    		 --
    		 42(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 59.25(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)
    worm
    (Caenorhabditis elegans)    		 Secernentea ceh-286
    		 Homeobox family member (ceh-28)
    		 24(a)
    		 1 → many
    		 X(13074613-13076023)


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

    Paralogs
    for NKX2-5 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for NKX2-5 gene
    NKX2-12  HMX32  LBX22  TLX22  NKX3-12  TLX12  NKX2-32  HMX22  
    NKX3-22  NKX2-62  NKX2-82  LBX12  NKX2-22  NKX2-42  HMX12  TLX32  
    18/57 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



    Genomic Variants
    for NKX2-5 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

    10/109 NCBI SNPs in NKX2-5 are shown (see all 109)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 5 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1048939041,2
    		C,Fpathogenic173167324(-) ACCTGG/CAACAG 6 /Q /E mis12Minor allele frequency- C:0.00NA EU 4789
    rs289366701,2
    		C,F,pathogenic173167336(-) AGCAGC/TGCAGC 6 R C mis1 ese35Minor allele frequency- T:0.01NA WA EU 5019
    rs1378526841,2
    		C,Fpathogenic173169158(-) AGAAGG/TCGGTG 4 A S ut31 mis12Minor allele frequency- T:0.00NA EU 3295
    rs1048939011,2
    		Cpathogenic173169311(-) GCGACC/TAGCTG 4 Q * stg1 ut310--------
    rs1048939001,2
    		Cpathogenic173169336(-) ACTCAC/TGTCCA 4 T M ut31 mis10--------
    rs1048939061,2
    		Cpathogenic173169371(-) ACCGGC/TGCTAC 4 R C ut31 mis10--------
    rs1048939031,2
    		Cpathogenic173169395(-) AGCGGC/TAGGAC 4 Q * stg1 ut310--------
    rs1048939051,2
    		Cpathogenic173169449(-) CTGCCC/TGCAGG 4 R C mis1 ut310--------
    rs1048939021,2
    		Cpathogenic173169459(-) GATCGC/TGGTGC 4 A V ut31 mis10--------
    rs725540291,2
    		C,F,probable-non-pathogenic173167500(-) TCACCA/C/GGCCAA 9 P syn13NA EU 2767

    HapMap Linkage Disequilibrium report for NKX2-5 (172659107 - 172662360 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for NKX2-5: --
    Human Gene Mutation Database (HGMD): NKX2-5

    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for NKX2-5

    Disorders / Diseases
    for NKX2-5 gene

    (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
    NKX2-5 for disorders           About GeneDecksing

    OMIM gene information: 600584   
    OMIM disorders: 108900  187500  225250  
    UniProtKB/Swiss-Prot: NKX25_HUMAN, P52952
  • Defects in NKX2-5 are the cause of atrial septal defect type 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
  • Defects in NKX2-5 are a cause of tetralogy of Fallot (TOF) [MIM:187500]. TOF is 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. This condition results in a blue baby at birth due
    to inadequate oxygenation. Surgical correction is emergent
  • Defects in NKX2-5 are a cause of conotruncal heart malformations (CTHM) [MIM:217095]. CTMH is 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
  • Defects in NKX2-5 are the cause of congenital hypothyroidism non-goitrous type 5 (CHNG5) [MIM:225250]. CHNG5
    • is 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
  • Defects in NKX2-5 are a cause of ventricular septal defect type 3 (VSD3) [MIM:614432]. VSD3 is 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
  • Defects in NKX2-5 are a cause of hypoplastic left heart syndrome type 2 (HLHS2) [MIM:614435]. HLHS2 is 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

    20/34 diseases for NKX2-5 (see all 34):    About MalaCards
    atrial septal defect with atrioventricular conduction defects    atrioventricular block, second-degree    tetralogy of fallot    congenital hypothyroidism
    hypothyroidism, congenital nongoitrous, 5    double outlet right ventricle    wolff-parkinson-white syndrome    hypothyroidism
    atrioventricular septal defect    holt-oram syndrome    ventricular septal defect    patent foramen ovale
    hypoplastic left heart syndrome    transposition of great arteries    ebstein anomaly    tetrology of fallot
    congenital heart defect    heart block    atrial fibrillation    systemic lupus erythematosus

    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

    10/16 Novoseek 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

    Publications
    for NKX2-5 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 NKX2-5 gene, integrated from 9 sources (see all 188):
    (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. Assignment of cardiac homeobox gene CSX to human chromosome 5q34. (PubMed id 7665173)1, 3, 9 Shiojima I....Yazaki Y. (1995)
    3. 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)
    4. A novel NKX2-5 mutation in familial ventricular septa l defect. (PubMed id 21165553)1, 2 Wang J....Yang Y.Q. (2011)
    5. Mutations of the GATA4 and NKX2.5 genes in Chinese pe diatric patients with non-familial congenital heart disease. (PubMed id 21110066)1, 2 Peng T....Li X. (2010)
    6. Missense mutation in the transcription factor NKX2-5: a novel molecular event in the pathogenesis of thyroid dysgenesis. (PubMed id 16418214)1, 2 Dentice M.... Macchia P.E. (2006)
    7. Somatic NKX2-5 mutations as a novel mechanism of disease in complex congenital heart disease. (PubMed id 15342699)1, 2 Reamon-Buettner S.M. and Borlak J. (2004)
    8. 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)
    9. Cardiac homeobox gene NKX2-5 mutations and congenital heart disease: associations with atrial septal defect and hypoplastic left heart syndrome. (PubMed id 12798584)1, 4 Elliott D.A....Harvey R.P. (2003)
    10. NKX2.5 mutations in patients with congenital heart disease. (PubMed id 14607454)1, 2 McElhinney D.B....Goldmuntz E. (2003)

    External Searches for NKX2-5 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
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    Genome Databases showing NKX2-5 gene

    (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

    Other Databases showing NKX2-5 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing NKX2-5 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 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

    Intellectual Property
    for NKX2-5 gene

    (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:
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