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

NKX2-6 Gene

protein-coding   GIFtS: 34
GCID: GC08M023559

NK2 homeobox 6

(Previous names: NK2 transcription factor related, locus 6 (Drosophila)...)
 Explore 8 diseases affiliated with
NKX2-6 via our new
 Human Malady Compendium 
Biological research products
for NKX2-6
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
NK2 Homeobox 61 2     Homeobox Protein Nkx-2.62
CSX21 2 5     Homeobox Protein NKX2.62
NKX4-21 2     NK2 Transcription Factor Related, Locus 62
NKX2F2 3     Tinman Paralog2
NK2 Transcription Factor Related, Locus 6 (Drosophila)1     Homeobox Protein NK-2 Homolog F3
Homeobox Protein NK2 Homolog F2     

External Ids:    HGNC: 329401   Entrez Gene: 1378142   Ensembl: ENSG000001800537   OMIM: 6117705   UniProtKB: A6NCS43   

Export aliases for NKX2-6 gene to outside databases

Previous GC identifers: GC08M023616 GC08M022105


(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 NKX2-6:
This gene encodes a homeobox-containing protein that belongs to the NK-2 homeobox family. This protein is a vertebrate
homolog of Drosophila homeobox-containing protein called 'tinman', which has been shown to be essential for
development of the heart-like dorsal vessel. In conjunction with related gene, NKX2-5, this gene may play a role in
both pharyngeal and cardiac embryonic development. Mutations in this gene are associated with persistent truncus
arteriosus.(provided by RefSeq, Aug 2011)

UniProtKB/Swiss-Prot: NKX26_HUMAN, A6NCS4
Function: In conjunction with NKX2-5, may play a role in both pharyngeal and cardiac embryonic development (By
similarity)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000008.10  NC_018919.1  NT_167187.1  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the NKX2-6 gene promoter:
         TBP   NF-1   NF-1/L   GCNF   C/EBPalpha   N-Myc   GCNF-1   FOXO1a   GCNF-2   FOXO1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for NKX2-6

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NKX2-6


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

Entrez Gene cytogenetic band: 8p21.2   Ensembl cytogenetic band:  8p21.2   HGNC cytogenetic band: 8p21.2

NKX2-6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NKX2-6 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08M023559:  view genomic region     (about GC identifiers)

Start:
23,559,964 bp from pter      End:
23,564,111 bp from pter
Size:
4,148 bases      Orientation:
minus strand

(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: NKX26_HUMAN, A6NCS4 (See protein sequence)
Recommended Name: Homeobox protein Nkx-2.6  
Size: 301 amino acids; 32121 Da
Subcellular location: Nucleus (Probable)

Explore the universe of human proteins at neXtProt for NKX2-6: NX_A6NCS4

NKX2-6 Protein expression data from MOPED and PaxDb:    About this image 

Estimated protein expression log10 (pmol).

REFSEQ proteins: NP_001129743.2  
ENSEMBL proteins: 
 ENSP00000320089   ENSP00000402231  

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Uscn Proteins for NKX2-6

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

GO IDQualified GO termEvidencePubMed IDs
GO:0005634nucleus IC15649947


NKX2-6 for ontologies           About GeneDecksing



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

NKX2-6 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 A6NCS4

ProtoNet protein and cluster: A6NCS4

UniProtKB/Swiss-Prot: NKX26_HUMAN, A6NCS4
Similarity: Belongs to the NK-2 homeobox family
Similarity: Contains 1 homeobox DNA-binding domain


(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: NKX26_HUMAN, A6NCS4
Function: In conjunction with NKX2-5, may play a role in both pharyngeal and cardiac embryonic development (By
similarity)

miRNA
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Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0003700sequence-specific DNA binding transcription factor activity IDA15649947
GO:0043565sequence-specific DNA binding IEA--


NKX2-6 for ontologies           About GeneDecksing


Animal Models:
     Mouse knock-out Nkx2-6Nkx2-tm1Siz for NKX2-6
     8 MGI mutant phenotypes (inferred from 1 allele(MGI details for Nkx2-6):
 cardiovascular system  cellular  embryogenesis  growth/size  homeostasis/metabolism 
 mortality/aging  normal  respiratory system 

NKX2-6 for phenotypes           About GeneDecksing


(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



Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for NKX2-6

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

GO IDQualified GO termEvidencePubMed IDs
GO:0006351transcription, DNA-dependent IDA15649947
GO:0006355regulation of transcription, DNA-dependent ----
GO:0007507heart development ----
GO:0008284positive regulation of cell proliferation ISS--
GO:0021854hypothalamus development ISS--


NKX2-6 for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section
Browse Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for NKX2-6
Search CenterWatch for drugs/clinical trials and news about NKX2-6 / NKX26 

(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,
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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 NKX2-6 gene: 
NM_001136271.2  

Unigene Cluster for NKX2-6:

NK2 homeobox 6
Hs.532654  [show with all ESTs]
Unigene Representative Sequence: NM_001136271
2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000325017(uc011kzy.2) ENST00000418222

miRNA
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Inhib. RNA
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Clone
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GenScript: all cDNA clones in your preferred vector: NKX2-6 (NM_001136271)
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  QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat NKX2-6
  QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NKX2-6

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

NKX2-6 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

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

About this image

NKX2-6 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
2 LifeMap In Vivo Development Anatomical Compartments/Cells 
Tissue Anatomical Compartment CellCategory (developmental path)
HeartPrimitive Heart TubePrimitive Heart Tube CellsMyocardium
HeartHeart TubeHeart
Expression: Positive    Negative     Selective marker
Experimental details: Curated     Microarrays     In-situ hybridization
Stem Cell Differentiation: 1 LifeMap Cell 
NameCategory
Primitive gut tube-like cells (A scalable, suspensi...)

See NKX2-6 Protein Expression from SPIRE MOPED and PaxDB
SOURCE GeneReport for Unigene cluster: Hs.532654
    SABiosciences Custom PCR Arrays for NKX2-6
Primer
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OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for NKX2-6
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QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NKX2-6
In Situ
Assay Products:
 

 
Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for NKX2-6

(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 NKX2-6 gene from 3/15 species (see all 15)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
chicken
(Gallus gallus)
Aves NKX2-61 NK2 homeobox 6 63.44(n)
65.05(a)
  396037  NM_205137.1  NP_990468.1 
fruit fly
(Drosophila melanogaster)
Insecta tin6
tinman
15(a)
1 → many
3R(17204701-17207692)
worm
(Caenorhabditis elegans)
Secernentea ceh-286
Homeobox family member (ceh-28)
26(a)
1 → many
X(13074613-13076023)


ENSEMBL Gene Tree for NKX2-6 (if available)
TreeFam Gene Tree for NKX2-6 (if available) 

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
Paralogs for NKX2-6 gene
NKX2-32  TLX12  HMX22  NKX3-22  NKX2-82  NKX2-12  NKX2-52  NKX2-22  
LBX12  HMX32  NKX2-42  TLX32  HMX12  LBX22  TLX22  NKX3-12  
11 SIMAP similar genes for NKX2-6 using alignment to 2 protein entries:     NKX26_HUMAN (see all proteins):
NKX2-5    HMX2    HLX    HOXB1    NKX2-2    NKX2-3
HOXA4    DLX6    NKX3-1    CDX1    NKX2-4

NKX2-6 for paralogs           About GeneDecksing



(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

10/134 NCBI SNPs in NKX2-6 are shown (see all 134    About this table
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 8 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs117763771,2
H--22104945(+) GGCCTA/CTGGGG 1 -- ds50010--------
rs119915481,2
C,H,--22105166(+) GTAGCA/TGCTTC 1 -- ds50010--------
rs617493201,2
F,--22105387(+) GGCGCG/CCCCGC 2 /G syn12Minor allele frequency- C:0.34NS WA 170
rs617430321,2
C,F,--22105814(+) CACCCC/GGCACG 2 P R mis13Minor allele frequency- G:0.40NS CSA WA 198
rs617407251,2
--22105875(+) GAGGGG/TCGAGG 2 T P mis11Minor allele frequency- T:0.01NS 78
rs774087371,2
C,--22106122(+) GGAACA/GTAAAT 1 -- int11Minor allele frequency- G:0.01WA 118
rs557786111,2
C,F,--22106191(+) AAGAGT/CTAAGG 1 -- int14Minor allele frequency- C:0.05WA CSA 124
rs735468041,2
C,--22106615(+) CAGATC/TGAGGA 1 -- int11Minor allele frequency- T:0.50WA 2
rs715158401,2
C--22106686(+) GGAGGT/AAGAGG 1 -- int11Minor allele frequency- A:0.50NA 2
rs788182221,2
F,--22106749(+) GTCAAG/CAAGGC 1 -- int11Minor allele frequency- C:0.08WA 118

HapMap Linkage Disequilibrium report for NKX2-6 (23559964 - 23564111 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
      Database of Genomic Variants (DGV) variations for NKX2-6: --
Human Gene Mutation Database (HGMD): NKX2-6

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

NKX2-6 for disorders           About GeneDecksing

OMIM gene information: 611770   
OMIM disorders: 217095  
UniProtKB/Swiss-Prot: NKX26_HUMAN, A6NCS4
  • Defects in NKX2-6 may be a cause of conotruncal heart malformations (CTHM) [MIM:217095]. CTHM defines 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

    8 diseases for NKX2-6:    About MalaCards
    persistent truncus arteriosus    double outlet right ventricle    pharyngitis    conjunctivitis
    transposition of great arteries    conotruncal heart malformations    velocardiofacial syndrome    digeorge syndrome

    1 disease from the University of Copenhagen DISEASES database for NKX2-6:
    Velocardiofacial syndrome

    Export disorders for NKX2-6 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 NKX2-6 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with NKX2-6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Common arterial trunk associated with a homeodomain mutation of NKX2.6. (PubMed id 15649947)1, 2, 3 Heathcote K....Syrris P. (2005)
    2. Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. (PubMed id 15146197)1, 2 Brandenberger R.... Stanton L.W. (2004)
    3. Beyond single-marker analyses: mining whole genome sca ns for insights into treatment responses in severe sepsis. (PubMed id 22310353)1 Man M....Garcia J.G. (2012)
    4. Exploration of human ORFeome: high-throughput prepara tion of ORF clones and efficient characterization of their protein products. (PubMed id 18316326)1 Nagase T....Ohara O. (2008)
    5. NKX2.5/NKX2.6 mutations are not a common cause of isolated type 1 truncus arteriosus in a small cohort of multiethnic cases. (PubMed id 18939937)1 Khetyar M....Carter N. (2008)
    6. DNA sequence and analysis of human chromosome 8. (PubMed id 16421571)2 Nusbaum C....Lander E.S. (2006)
    7. tinman-related genes expressed during heart development in Xenopus. (PubMed id 9621430)1 Newman C.S. and Krieg P.A. (1998)
    8. Assignment of cardiac homeobox gene CSX to human chromosome 5q34. (PubMed id 7665173)1 Shiojima I....Yazaki Y. (1995)

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

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 137814 HGNC: 32940 Ensembl:ENSG00000180053 euGenes: HUgn137814 ECgene: NKX2-6
    H-InvDB: NKX2-6

    (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 NKX2-6 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for NKX2-6 gene:
    Search GeneIP for patents involving NKX2-6

    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, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, 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
    Advanced Cell Diagnostics
    About This Section

     
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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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    VWF
    (GIFTS: 73)
    von Willebrand factor
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    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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