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

NKX2-4 Gene

protein-coding   GIFtS: 35
GCID: GC20M021371

NK2 homeobox 4

(Previous names: NK-2 (Drosophila) homolog D, NK2 transcription factor related,...)
(Previous symbol: NKX2D)
 Explore 1 disease affiliated with
NKX2-4 via our new
 Human Malady Compendium 
Biological research products
for NKX2-4
    

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

Aliases
NK2 Homeobox 41 2     NK2 Transcription Factor Related, Locus 4 (Drosophila)1
NKX2D1 2 3 5     Homeobox Protein Nkx-2.42
NKX2.41 2     NK-2 Homolog D2
Homeobox Protein NK-2 Homolog D2 3     NK2 Transcription Factor Homolog D2
NK-2 (Drosophila) Homolog D1     NK2 Transcription Factor Related, Locus 42

External Ids:    HGNC: 78371   Entrez Gene: 6445242   Ensembl: ENSG000001258167   OMIM: 6078085   UniProtKB: Q9H2Z43   

Export aliases for NKX2-4 gene to outside databases

Previous GC identifers: GC20U990020 GC20M021324


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

UniProtKB/Swiss-Prot: NKX24_HUMAN, Q9H2Z4
Function: Probable transcription factor




(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_000020.10  NC_018931.1  NT_011387.8  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the NKX2-4 gene promoter:
         Egr-2   Egr-3   FOXF2   p53   ARP-1   CUTL1   LCR-F1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for NKX2-4

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NKX2-4


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

Entrez Gene cytogenetic band: 20p11.22   Ensembl cytogenetic band:  20p11.22   HGNC cytogenetic band: 20p11.22

NKX2-4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NKX2-4 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20M021371:  view genomic region     (about GC identifiers)

Start:
21,376,005 bp from pter      End:
21,378,666 bp from pter
Size:
2,662 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: NKX24_HUMAN, Q9H2Z4 (See protein sequence)
Recommended Name: Homeobox protein Nkx-2.4  
Size: 354 amino acids; 36179 Da
Subcellular location: Nucleus (By similarity)
Secondary accessions: Q5VZV8

Explore the universe of human proteins at neXtProt for NKX2-4: NX_Q9H2Z4

NKX2-4 Protein expression data from MOPED and PaxDb:    About this image 

Estimated protein expression log10 (pmol).

REFSEQ proteins: NP_149416.1  
ENSEMBL proteins: 
 ENSP00000345147  

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Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005575cellular_component ND--
GO:0005634nucleus IEA--


NKX2-4 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

NKX2-4 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 Q9H2Z4

ProtoNet protein and cluster: Q9H2Z4

UniProtKB/Swiss-Prot: NKX24_HUMAN, Q9H2Z4
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: NKX24_HUMAN, Q9H2Z4
Function: Probable transcription factor

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

GO IDQualified GO termEvidencePubMed IDs
GO:0003674molecular_function ND--
GO:0003700sequence-specific DNA binding transcription factor activity IEA--
GO:0043565sequence-specific DNA binding IEA--


NKX2-4 for ontologies           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 NKX2-4

STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

2 Interacting proteins for NKX2-4 (ENSP000003451474) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
NCOA3ENSP000003610664STRING: ENSP00000361066
RARAENSP000002540664STRING: ENSP00000254066
About this table

Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0007275multicellular organismal development IEA--
GO:0008150biological_process ND--


NKX2-4 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 NKX2-4
Search CenterWatch for drugs/clinical trials and news about NKX2-4 / NKX24 

(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 NKX2-4 gene: 
NM_033176.1  

Unigene Cluster for NKX2-4:

NK2 homeobox 4
Hs.456662  [show with all ESTs]
Unigene Representative Sequence: NM_033176
1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000351817(uc010gcz.3)

miRNA
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Inhib. RNA
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1 DOTS entry:

DT.100749639 

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

NKX2-4 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: ATCCACCTGA

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

About this image
See NKX2-4 Protein Expression from SPIRE MOPED and PaxDB
SOURCE GeneReport for Unigene cluster: Hs.456662
    SABiosciences Custom PCR Arrays for NKX2-4
Primer
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In Situ
Assay Products:
 

 
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(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 NKX2-4 gene from 5/15 species (see all 15)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
chicken
(Gallus gallus)
Aves F1N8W4_CHICK6
thyroid transcription factor 1
50(a)
possible ortholog
5(39014608-39016765)
lizard
(Anolis carolinensis)
Reptilia NKX2-16
NKX2-46
--
50(a)
37(a)
possible ortholog
possible ortholog
1(24643978-24650302)
LGf(4247662-4251929)
zebrafish
(Danio rerio)
Actinopterygii zgc:1715311 zgc:171531 68.96(n)
72.5(a)
  562300  NM_001111166.1  NP_001104636.1 
fruit fly
(Drosophila melanogaster)
Insecta scro6
scarecrow
30(a)
1 → many
3LHet(207493-252455)
worm
(Caenorhabditis elegans)
Secernentea ceh-246
Homeobox protein ceh-24
24(a)
possible ortholog
V(13813295-13815258)


ENSEMBL Gene Tree for NKX2-4 (if available)
TreeFam Gene Tree for NKX2-4 (if available) 

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
Paralogs for NKX2-4 gene
NKX2-12  HMX32  LBX22  TLX22  NKX3-12  TLX12  NKX2-32  HMX22  
NKX3-22  NKX2-62  NKX2-82  NKX2-52  LBX12  NKX2-22  HMX12  TLX32  
7 SIMAP similar genes for NKX2-4 using alignment to 1 protein entry:     NKX24_HUMAN:
HLX    NKX2-8    NKX2-1    NKX2-3    NKX2-2    NKX2-5
NKX2-6

NKX2-4 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

10/46 NCBI SNPs in NKX2-4 are shown (see all 46    About this table
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 20 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1898773241,2
--21375663(+) TTCTTC/GTTGTC 1 -- ds50010--------
rs1922160401,2
--21375680(+) TGAATA/GTAGAT 1 -- ds50010--------
rs1840039731,2
--21375820(+) CTCAGC/TTGATG 1 -- ds50010--------
rs60358681,2
C,F,A,H,--21375826(+) TGATGC/TTGGGA 1 -- ds500128Minor allele frequency- T:0.46NS EA NA WA CSA 2768
rs60474231,2
C,F,A,H,--21375909(+) TTTAGG/CGTAAC 1 -- ds500115Minor allele frequency- C:0.07NS EA WA NA CSA 662
rs792953801,2
F,--21375915(+) GTAACA/GTACAA 1 -- ds50011Minor allele frequency- G:0.06EA 120
rs1886846361,2
--21375931(+) CACTTA/GCCAAA 1 -- ds50010--------
rs1814223401,2
C,--21376915(+) ATCTTC/GACCTG 2 V syn10--------
rs1997476431,2
--21377083(+) AGCGGA/GCCCAG 2 G syn10--------
rs1460093771,2
--21377443(+) CCCCGC/TGCGTC 1 -- int10--------

HapMap Linkage Disequilibrium report for NKX2-4 (21376005 - 21378666 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
      Database of Genomic Variants (DGV) variations for NKX2-4: --

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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

NKX2-4 for disorders           About GeneDecksing

OMIM gene information: 607808    OMIM disorders: --

1 disease for NKX2-4:    About MalaCards
thyroiditis


Export disorders for NKX2-4 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 NKX2-4 gene integrated from 9 sources:
(articles sorted by number of sources associating them with NKX2-4)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Conserved linkage of NK-2 homeobox gene pairs Nkx2-2/2-4 and Nkx2- 1/2-9 in mammals. (PubMed id 10818213)1, 2, 3 Wang C.-C.... Harvey R.P. (2000)
  2. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (2001)
  3. Regional expression of the homeobox gene Nkx-2.2 in t he developing mammalian forebrain. (PubMed id 1346742)1, 3 Price M....Di Lauro R. (1992)

(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: 644524 HGNC: 7837 Ensembl:ENSG00000125816 euGenes: HUgn644524 ECgene: NKX2-4
H-InvDB: NKX2-4

(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 NKX2-4 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 NKX2-4 gene:
Search GeneIP for patents involving NKX2-4

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
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von Willebrand factor
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