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NKX2-2 Gene

protein-coding   GIFtS: 60
GCID: GC20M021491

NK2 Homeobox 2

(Previous names: NK-2 (Drosophila) homolog B, NK2 transcription factor related,...)
(Previous symbol: NKX2B)
  See NKX2-2-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
NK2 Homeobox 21 2     NK2 Transcription Factor Related, Locus 2 (Drosophila)1
NKX2B1 2 3 5     Homeobox Protein Nkx-2.22
Homeobox Protein NK-2 Homolog B2 3     NK-2 Homolog B2
NKX2.22 3     NK2 Transcription Factor Related, Locus 22
NK-2 (Drosophila) Homolog B1     NK2 Transcription Factor-Like Protein B2

External Ids:    HGNC: 78351   Entrez Gene: 48212   Ensembl: ENSG000001258207   OMIM: 6046125   UniProtKB: O950963   

Export aliases for NKX2-2 gene to outside databases

Previous GC identifers: GC20M021479 GC20M021486 GC20M021439 GC20M021453


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for NKX2-2 Gene:
The protein encoded by this gene contains a homeobox domain and may be involved in the morphogenesis of the
central nervous system. This gene is found on chromosome 20 near NKX2-4, and these two genes appear to be
duplicated on chromosome 14 in the form of TITF1 and NKX2-8. The encoded protein is likely to be a nuclear
transcription factor. (provided by RefSeq, Jul 2008)

GeneCards Summary for NKX2-2 Gene:
NKX2-2 (NK2 homeobox 2) is a protein-coding gene. Diseases associated with NKX2-2 include gastrointestinal neuroendocrine tumor, and neuroendocrine tumor. GO annotations related to this gene include chromatin binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is NKX2-1.

UniProtKB/Swiss-Prot: NKX22_HUMAN, O95096
Function: Acts as a transcriptional activator. Required for the maintenance of NEUROD1 expression in the
horomone-producing endocrine cells of the pancreas. May be involved in specifying diencephalic neuromeric
boundaries, and in controlling the expression of genes that play a role in axonal guidance. Associates with
chromatin at the NEUROD1 promoter region. Binds to a subset of consensus elements within the NEUROD1 promoter (By
similarity)

Gene Wiki entry for NKX2-2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000020.10  NT_011387.9  NC_018931.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the NKX2-2 gene promoter:
         GR   Oct-B1   USF1   oct-B2   oct-B3   Max   HFH-1   USF-1   GR-alpha   ATF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): NKX2-2 promoter sequence
   Search Chromatin IP Primers for NKX2-2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NKX2-2


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

NKX2-2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NKX2-2 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20M021491:  view genomic region     (about GC identifiers)

Start:
21,491,648 bp from pter      End:
21,494,664 bp from pter
Size:
3,017 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: NKX22_HUMAN, O95096 (See protein sequence)
Recommended Name: Homeobox protein Nkx-2.2  
Size: 273 amino acids; 30133 Da
Subunit: Interacts with OLIG2 (By similarity)

Explore the universe of human proteins at neXtProt for NKX2-2: NX_O95096

Explore proteomics data for NKX2-2 at MOPED


See NKX2-2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_002500.1  
ENSEMBL proteins: 
 ENSP00000366347  
Reactome Protein details: O95096

NKX2-2 Human Recombinant Protein Products:

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Cloud-Clone Corp. Proteins for NKX2-2

 
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NKX2-2 Antibody Products:

EMD Millipore Mono- and Polyclonal Antibodies for the study of NKX2-2
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Abcam antibodies for NKX2-2
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ThermoFisher Antibody for NKX2-2
LSBio Antibodies in human, mouse, rat for NKX2-2

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Cloud-Clone Corp. ELISAs for NKX2-2
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Search eBioscience for ELISAs for NKX2-2 


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:
NKL: Homeoboxes / ANTP class : NKL subclass

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

Graphical View of Domain Structure for InterPro Entry O95096

ProtoNet protein and cluster: O95096

UniProtKB/Swiss-Prot: NKX22_HUMAN, O95096
Domain: The homeodomain is essential for interaction with OLIG2 (By similarity)
Similarity: Belongs to the NK-2 homeobox family
Similarity: Contains 1 homeobox DNA-binding domain


Find genes that share domains with NKX2-2           About GenesLikeMe


(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,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: NKX22_HUMAN, O95096
Function: Acts as a transcriptional activator. Required for the maintenance of NEUROD1 expression in the
horomone-producing endocrine cells of the pancreas. May be involved in specifying diencephalic neuromeric
boundaries, and in controlling the expression of genes that play a role in axonal guidance. Associates with
chromatin at the NEUROD1 promoter region. Binds to a subset of consensus elements within the NEUROD1 promoter (By
similarity)

     Gene Ontology (GO): Selected molecular function terms (see all 8):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0001159core promoter proximal region DNA binding ISS--
GO:0003677DNA binding ----
GO:0003682chromatin binding ISS--
GO:0003700sequence-specific DNA binding transcription factor activity IEA--
GO:0003713transcription coactivator activity ISS--
     
Find genes that share ontologies with NKX2-2           About GenesLikeMe


Phenotypes:
     1 GenomeRNAi human phenotype for NKX2-2:
 Metaphase cells 

     9 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Nkx2-2):
 cellular  embryogenesis  endocrine/exocrine gland  growth/size/body  homeostasis/metabolism 
 mortality/aging  nervous system  normal  reproductive system 

Find genes that share phenotypes with NKX2-2           About GenesLikeMe

Animal Models:
     MGI mouse knock-out Nkx2-2Nkx2-tm1Jlr for NKX2-2

   inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NKX2-2
   inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for NKX2-2

   genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for NKX2-2
   genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for NKX2-2

miRNA
Products:
    
miRTarBase miRNAs that target NKX2-2:
hsa-mir-9-5p (MIRT021435), hsa-mir-26b-5p (MIRT029734)

Block miRNA regulation of human, mouse, rat NKX2-2 using miScript Target Protectors
Selected qRT-PCR Assays for microRNAs that regulate NKX2-2 (see all 25):
hsa-miR-30c hsa-miR-3607-3p hsa-miR-520d-5p hsa-miR-2110 hsa-miR-106a hsa-miR-30d hsa-miR-374a hsa-miR-30a
SwitchGear 3'UTR luciferase reporter plasmidNKX2-2 3' UTR sequence
Inhib. RNA
Products:
    
OriGene RNAi products in human, mouse, rat for NKX2-2
Predesigned siRNA for gene silencing in human, mouse, rat NKX2-2

Gene Editing
Products:
DNA2.0 Custom Protein Engineering Service for NKX2-2

Clone
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OriGene clones in human, mouse for NKX2-2 (see all 6)
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GenScript: all cDNA clones in your preferred vector: NKX2-2 (NM_002509)
Browse Sino Biological Human cDNA Clones
DNA2.0 Custom Codon Optimized Gene Synthesis Service for NKX2-2
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NKX2-2

Cell Line
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Browse ESI BIO Cell Lines and PureStem Progenitors for NKX2-2 
In Situ Assay
Products:
   

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NKX2-2


(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
NKX22_HUMAN, O95096: Nucleus (By similarity)
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
nucleus4
cytoskeleton1
cytosol1

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

GO IDQualified GO termEvidencePubMed IDs
GO:0005622intracellular ----
GO:0005634nucleus ----
GO:0005654nucleoplasm TAS--

Find genes that share ontologies with NKX2-2           About GenesLikeMe


(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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SuperPaths for NKX2-2 About   (see all 6)  
See pathways by source

SuperPathContained pathways About
1Regulation of beta-cell development
Regulation of beta-cell development0.64
Maturity onset diabetes of the young0.61
Regulation of gene expression in beta cells0.64
Regulation of gene expression in endocrine-committed (NEUROG3+) progenitor cells0.00
2L1CAM interactions
Developmental Biology0.63
3Wnt / Hedgehog / Notch
Wnt / Hedgehog / Notch
4Transcription factors in neurogenesis
Transcription factors in neurogenesis
5SIDS Susceptibility Pathways
SIDS Susceptibility Pathways


Find genes that share SuperPaths with NKX2-2           About GenesLikeMe

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways


2 Cell Signaling Technology (CST) Pathways for NKX2-2
    Wnt / Hedgehog / Notch
Neuroscience

1 BioSystems Pathway for NKX2-2
    SIDS Susceptibility Pathways

2 Reactome Pathways for NKX2-2
    Regulation of gene expression in beta cells
Regulation of gene expression in endocrine-committed (NEUROG3+) progenitor cells


1 Kegg Pathway  (Kegg details for NKX2-2):
    Maturity onset diabetes of the young

    Pathway & Disease-focused RT2 Profiler PCR Arrays including NKX2-2: 
          Cell Lineage Identification in human mouse rat
          Stem Cell Transcription Factors in human mouse rat
          Homeobox (HOX) Genes in human mouse rat

Interactions:

    Search GeneGlobe Interaction Network for NKX2-2

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

Selected Interacting proteins for NKX2-2 (O950962, 3 ENSP000003663474) via UniProtKB, MINT, STRING, and/or I2D (see all 66)
InteractantInteraction Details
GeneCardExternal ID(s)
OLIG2Q135163, ENSP000003310404I2D: score=2 STRING: ENSP00000331040
HDAC1Q135473, ENSP000003626494I2D: score=1 STRING: ENSP00000362649
SIN3AQ96ST33, ENSP000003536224I2D: score=1 STRING: ENSP00000353622
FOXO1ENSP000003688804STRING: ENSP00000368880
INS-IGF2ENSP000003489864STRING: ENSP00000348986
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Gene Ontology (GO): Selected biological process terms (see all 31):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0003323type B pancreatic cell development IEA--
GO:0003326pancreatic A cell fate commitment IEA--
GO:0003327type B pancreatic cell fate commitment IEA--
GO:0003329pancreatic PP cell fate commitment IEA--
GO:0006351transcription, DNA-templated IEA--

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for NKX2-2 (NKX22)



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for NKX2-2 gene: 
NM_002509.3  

Unigene Cluster for NKX2-2:

NK2 homeobox 2
Hs.516922  [show with all ESTs]
Unigene Representative Sequence: NM_002509
1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000377142(uc002wsi.3)
miRNA
Products:
     
Block miRNA regulation of human, mouse, rat NKX2-2 using miScript Target Protectors
Selected qRT-PCR Assays for microRNAs that regulate NKX2-2 (see all 25):
hsa-miR-30c hsa-miR-3607-3p hsa-miR-520d-5p hsa-miR-2110 hsa-miR-106a hsa-miR-30d hsa-miR-374a hsa-miR-30a
SwitchGear 3'UTR luciferase reporter plasmidNKX2-2 3' UTR sequence
Inhib. RNA
Products:
     
OriGene RNAi products in human, mouse, rat for NKX2-2
Predesigned siRNA for gene silencing in human, mouse, rat NKX2-2
Clone
Products:
     
OriGene clones in human, mouse for NKX2-2 (see all 6)
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GenScript: all cDNA clones in your preferred vector: NKX2-2 (NM_002509)
DNA2.0 Custom Codon Optimized Gene Synthesis Service for NKX2-2
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NKX2-2
Primer
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OriGene qPCR primer pairs and template standards for NKX2-2
OriGene qSTAR qPCR primer pairs in human, mouse for NKX2-2
Pre-validated RT2 qPCR Primer Assay in human, mouse, rat NKX2-2
  QuantiTect SYBR Green Assays in human, mouse, rat NKX2-2
  QuantiFast Probe-based Assays in human, mouse, rat NKX2-2

Additional mRNA sequence: 

BC075092.2 BC075093.2 

5 DOTS entries:

DT.86840420  DT.120806866  DT.95299203  DT.102841075  DT.97855962 

Selected AceView cDNA sequences (see all 38):

CA848333 BC075093 BF512834 BM310999 BU070383 BM127626 NM_002509 CK904046 
CA848623 BQ286105 BM126493 BI966166 BM126854 BM126595 BC075092 BM127321 
AI675189 BM310856 BQ631747 BQ269463 BM311590 BM310557 BI789101 AI815011 

GeneLoc Exon Structure


(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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NKX2-2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: TAAACGTTCT
NKX2-2 Expression
About this image


NKX2-2 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 selected tissues (see all 9) fully expand
 
 Brain (Nervous System)    fully expand to see all 39 entries
         Late MN Progenitor Cells Motor Neural Progenitor Domain
         Cerebral Cortex
         Expanded oligodendrocyte progenitor cells
         striatum   
 
 Pancreas (Endocrine System)    fully expand to see all 16 entries
         Endocrine Progenitor Cells Ventral Pancreatic Bud
         Posterior foregut
 
 Spinal Cord (Nervous System)    fully expand to see all 19 entries
         Motor Neural Progenitor Cells Motor Neural Progenitor Domain
         Fetal spinal cord stem cells (NSI-566)
         Pre-oligodendrocyte progenitor cells
         Dorsal Horn   
 
 Oligodendrocytes (Nervous System)    fully expand to see all 8 entries
         Pre-oligodendrocyte progenitor cells
 
 Neural Tube (Nervous System)    fully expand to see all 8 entries
         Late MN Progenitor Cells Motor Neural Progenitor Domain
         Diencephalon
NKX2-2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

NKX2-2 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.516922
    Pathway & Disease-focused RT2 Profiler PCR Arrays including NKX2-2: 
          Cell Lineage Identification in human mouse rat
          Stem Cell Transcription Factors in human mouse rat
          Homeobox (HOX) Genes in human mouse rat

Primer
Products:
OriGene qPCR primer pairs and template standards for NKX2-2
OriGene qSTAR qPCR primer pairs in human, mouse for NKX2-2
Pre-validated RT2 qPCR Primer Assay in human, mouse, rat NKX2-2
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QuantiFast Probe-based Assays in human, mouse, rat NKX2-2
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NKX2-2

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of animals.

Orthologs for NKX2-2 gene from Selected species (see all 14)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Nkx2-21 , 5 NK2 transcription factor related, locus 2 (Drosophila)5
NK2 homeobox 21
93.16(n)1
98.17(a)1
  2 (72.63 cM)5
180881  NM_010919.21  NP_035049.11 
 1471775465 
chicken
(Gallus gallus)
Aves NKX2-21 NK2 homeobox 2 83.09(n)
88.6(a)
  428549  NM_001277718.1  NP_001264647.1 
lizard
(Anolis carolinensis)
Reptilia NKX2-26
NK2 homeobox 2
84(a)
1 ↔ 1
4(81466043-81482718)
African clawed frog
(Xenopus laevis)
Amphibia nkx2-2-A2 NK2 transcription factor related, locus 2 77.22(n)    L10327.1 
zebrafish
(Danio rerio)
Actinopterygii nkx2.22 NK2 transcription factor related 2 75.45(n)   30697  NM_131422.1 
fruit fly
(Drosophila melanogaster)
Insecta vnd6
ventral nervous system defective
19(a)
1 → many
X(476732-491855)
worm
(Caenorhabditis elegans)
Secernentea ceh-226
Protein CEH-22, isoform c
22(a)
1 → many
V(10672459-10675644) WBGene00000445


ENSEMBL Gene Tree for NKX2-2 (if available)
TreeFam Gene Tree for NKX2-2 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for NKX2-2 gene
NKX2-12  NKX6-12  HMX32  TLX22  NKX3-12  TLX12  NKX2-32  HMX22  
NKX6-32  NKX3-22  NKX6-22  NKX2-62  NKX2-82  NKX2-52  NKX2-42  HMX12  
TLX32  
6 SIMAP similar genes for NKX2-2 using alignment to 1 protein entry:     NKX22_HUMAN:
NKX2B    NKX2-6    NKX2-8    NKX2-4    NKX2-3    NKX2-5

Find genes that share paralogs with NKX2-2           About GenesLikeMe



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for NKX2-2 (see all 124)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 20 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs731278561,2
C--21491180(+) TAGCGT/CGAGGT 1 -- ds50012Minor allele frequency- C:0.10NA 122
rs1448803091,2
--21491344(+) CTGCCA/GCCCGG 1 -- ds50010--------
rs37467411,2
C,F,A,H--21491398(-) CAGGGT/CCGCCC 1 -- ds50018Minor allele frequency- C:0.49NA CSA WA EA 367
rs1881170121,2
--21491513(+) CCCCGC/TCCGCC 1 -- ds50010--------
rs37467401,2
C--21491553(-) TTCCTC/TTCGGG 1 -- ds50010--------
rs1808915601,2
C--21491768(+) AGTTCC/GGGGCT 1 -- ut310--------
rs1416912141,2
--21491771(+) TCGGGG/TCTGAA 1 -- ut310--------
rs1170625311,2
C,F--21491781(+) AGGCCC/TGGAGG 1 -- ut311Minor allele frequency- T:0.05NA 120
rs1405435271,2
C--21491887(+) AAACG-/CAAAAACA
AAAACAAAAAA
CAAAA
1 -- ut310--------
rs711823051,2
C--21491900(+) CAAAA-/AA/AACAAAA
ACAAAAACAAAA
CAAAA
2 -- ut311NA 2

HapMap Linkage Disequilibrium report for NKX2-2 (21491648 - 21494664 bp)

Structural Variations
     Database of Genomic Variants (DGV) 2 variations for NKX2-2:    About this table    
Variant IDTypeSubtypePubMed ID
esv2659363CNV Deletion23128226
nsv833941CNV Gain17160897

Human Gene Mutation Database (HGMD): NKX2-2
Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing NKX2-2
DNA2.0 Custom Variant and Variant Library Synthesis for NKX2-2

(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.)
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OMIM gene information: 604612    OMIM disorders: --

2 diseases for NKX2-2:    
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gastrointestinal neuroendocrine tumor    neuroendocrine tumor


Find genes that share disorders with NKX2-2           About GenesLikeMe

2 Novoseek inferred disease relationships for NKX2-2 gene    About this table

Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
oligodendroglioma 60 4 17146289 (2), 17442061 (1)
glioma 27.9 1 17146289 (1)

Genetic Association Database (GAD): NKX2-2
Human Genome Epidemiology (HuGE) Navigator: NKX2-2 (1 document)

Export disorders for NKX2-2 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)
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PubMed articles for NKX2-2 gene, integrated from 10 sources (see all 35):
(articles sorted by number of sources associating them with NKX2-2)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Beta-cell transcription factors and diabetes: mutations in the coding region of the BETA2/NeuroD1 (NEUROD1) and Nkx2.2 (NKX2B) genes are not associated with maturity-onset diabetes of the young in Japanese. (PubMed id 9703340)1, 2, 3, 9 Furuta H.... Bell G.I. (Diabetes 1998)
  2. Association studies of variants in the genes involved in pancreatic beta-cell function in type 2 diabetes in Japanese subjects. (PubMed id 16873704)1, 4 Yokoi N....Seino S. (Diabetes 2006)
  3. 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. (Genome Res. 2004)
  4. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (Nature 2001)
  5. Regional expression of the homeobox gene Nkx-2.2 in the developing mammalian forebrain. (PubMed id 1346742)1, 3 Price M....Di Lauro R. (Neuron 1992)
  6. NKX2.2 is a useful immunohistochemical marker for Ewing sarcoma. (PubMed id 22446943)1 Yoshida A....Tsuda H. (Am. J. Surg. Pathol. 2012)
  7. Transcription factor-induced lineage selection of stem-cell-derived neural progenitor cells. (PubMed id 21624811)1 Panman L....Perlmann T. (Cell Stem Cell 2011)
  8. Integrated transcript and genome analyses reveal NKX2-1 and MEF2C as potential oncogenes in T cell acute lymphoblastic leukemia. (PubMed id 21481790)1 Homminga I....Meijerink J.P. (Cancer Cell 2011)
  9. The SH3 domain of postsynaptic density 95 mediates inflammatory pain through phosphatidylinositol-3-kinase recruitment. (PubMed id 20467438)1 Arbuckle M.I....Grant S.G. (EMBO Rep. 2010)
  10. Lack of NKX2.2 expression in bronchopulmonary typical carcinoid tumors: implications for patients with neuroendocrine tumor metastases and unknown primary site. (PubMed id 20599218)1 Wang Y.C....Nakakura E.K. (J. Surg. Res. 2010)

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

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

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 4821 HGNC: 7835 AceView: NKX2-2 Ensembl:ENSG00000125820 euGenes: HUgn4821
ECgene: NKX2-2 Kegg: 4821 H-InvDB: NKX2-2

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for NKX2-2 Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for NKX2-2 Genetics and Cytogenetics in Oncology and Haematology

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for NKX2-2 gene:
Search GeneIP for patents involving NKX2-2

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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