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Aliases for NKX2-2 Gene

Aliases for NKX2-2 Gene

  • NK2 Homeobox 2 2 3
  • NKX2B 3 4 6
  • Homeobox Protein NK-2 Homolog B 3 4
  • NKX2.2 3 4
  • NK2 Transcription Factor Related, Locus 2 (Drosophila) 2
  • NK2 Transcription Factor Related, Locus 2 3
  • NK2 Transcription Factor-Like Protein B 3
  • NK-2 (Drosophila) Homolog B 2
  • Homeobox Protein Nkx-2.2 3
  • NK-2 Homolog B 3

External Ids for NKX2-2 Gene

Previous HGNC Symbols for NKX2-2 Gene

  • NKX2B

Previous GeneCards Identifiers for NKX2-2 Gene

  • GC20M021479
  • GC20M021486
  • GC20M021439
  • GC20M021491
  • GC20M021453

Summaries for NKX2-2 Gene

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. Among its related pathways are L1CAM interactions and Regulation of beta-cell development. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and chromatin binding. An important paralog of this gene is NKX2-5.

UniProtKB/Swiss-Prot for NKX2-2 Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NKX2-2 Gene

Genomics for NKX2-2 Gene

Regulatory Elements for NKX2-2 Gene

Genomic Location for NKX2-2 Gene

Start:
21,511,010 bp from pter
End:
21,514,026 bp from pter
Size:
3,017 bases
Orientation:
Minus strand

Genomic View for NKX2-2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NKX2-2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NKX2-2 Gene

Proteins for NKX2-2 Gene

  • Protein details for NKX2-2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95096-NKX22_HUMAN
    Recommended name:
    Homeobox protein Nkx-2.2
    Protein Accession:
    O95096
    Secondary Accessions:

    Protein attributes for NKX2-2 Gene

    Size:
    273 amino acids
    Molecular mass:
    30133 Da
    Quaternary structure:
    • Interacts with OLIG2.

neXtProt entry for NKX2-2 Gene

Proteomics data for NKX2-2 Gene at MOPED

Post-translational modifications for NKX2-2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NKX2-2 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for NKX2-2 (NKX2-2)

No data available for DME Specific Peptides for NKX2-2 Gene

Domains for NKX2-2 Gene

Gene Families for NKX2-2 Gene

HGNC:
  • NKL :Homeoboxes / ANTP class : NKL subclass

Protein Domains for NKX2-2 Gene

Suggested Antigen Peptide Sequences for NKX2-2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O95096

UniProtKB/Swiss-Prot:

NKX22_HUMAN :
  • O95096
Domain:
  • The homeodomain is essential for interaction with OLIG2.
  • Contains 1 homeobox DNA-binding domain.
Family:
  • Belongs to the NK-2 homeobox family.
genes like me logo Genes that share domains with NKX2-2: view

Function for NKX2-2 Gene

Molecular function for NKX2-2 Gene

UniProtKB/Swiss-Prot 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) - Molecular Function for NKX2-2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001159 core promoter proximal region DNA binding ISS --
GO:0003677 DNA binding --
GO:0003682 chromatin binding ISS --
GO:0003700 sequence-specific DNA binding transcription factor activity IEA --
GO:0003713 transcription coactivator activity ISS --
genes like me logo Genes that share ontologies with NKX2-2: view
genes like me logo Genes that share phenotypes with NKX2-2: view

Animal Models for NKX2-2 Gene

MGI Knock Outs for NKX2-2:

Animal Model Products

CRISPR Products

miRNA for NKX2-2 Gene

miRTarBase miRNAs that target NKX2-2

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for NKX2-2 Gene

Localization for NKX2-2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NKX2-2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NKX2-2 Gene COMPARTMENTS Subcellular localization image for NKX2-2 gene
Compartment Confidence
nucleus 4
cytoskeleton 1
cytosol 1

Gene Ontology (GO) - Cellular Components for NKX2-2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular --
GO:0005634 nucleus --
GO:0005654 nucleoplasm TAS --
genes like me logo Genes that share ontologies with NKX2-2: view

Pathways for NKX2-2 Gene

genes like me logo Genes that share pathways with NKX2-2: view

Pathways by source for NKX2-2 Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for NKX2-2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003323 type B pancreatic cell development IEA --
GO:0003326 pancreatic A cell fate commitment IEA --
GO:0003327 type B pancreatic cell fate commitment IEA --
GO:0003329 pancreatic PP cell fate commitment IEA --
GO:0006351 transcription, DNA-templated IEA --
genes like me logo Genes that share ontologies with NKX2-2: view

Transcripts for NKX2-2 Gene

mRNA/cDNA for NKX2-2 Gene

(38) Selected AceView cDNA sequences:
(3) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for NKX2-2 Gene

NK2 homeobox 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for NKX2-2

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for NKX2-2 Gene

No ASD Table

Relevant External Links for NKX2-2 Gene

GeneLoc Exon Structure for
NKX2-2
ECgene alternative splicing isoforms for
NKX2-2

Expression for NKX2-2 Gene

mRNA expression in normal human tissues for NKX2-2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NKX2-2 Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (12.3), Brain - Substantia nigra (6.4), and Pituitary (4.3).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for NKX2-2 Gene

SOURCE GeneReport for Unigene cluster for NKX2-2 Gene Hs.516922

genes like me logo Genes that share expressions with NKX2-2: view

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for NKX2-2 Gene

Orthologs for NKX2-2 Gene

This gene was present in the common ancestor of animals.

Orthologs for NKX2-2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NKX2-2 35
  • 99.63 (n)
  • 100 (a)
NKX2-2 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia NKX2-2 35
  • 94.75 (n)
  • 98.17 (a)
NKX2-2 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NKX2-2 35
  • 95.85 (n)
  • 99.27 (a)
NKX2-2 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nkx2-2 35
  • 93.16 (n)
  • 98.17 (a)
Nkx2-2 16
Nkx2-2 36
  • 98 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NKX2-2 36
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NKX2-2 36
  • 80 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nkx2-2 35
  • 92.55 (n)
  • 98.53 (a)
chicken
(Gallus gallus)
Aves NKX2-2 35
  • 83.09 (n)
  • 88.6 (a)
lizard
(Anolis carolinensis)
Reptilia NKX2-2 36
  • 84 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia nkx2-2-A 35
tropical clawed frog
(Silurana tropicalis)
Amphibia MGC75807 35
nkx2-2 35
  • 75.89 (n)
  • 85.24 (a)
zebrafish
(Danio rerio)
Actinopterygii nkx2.2 35
nkx2.2a 35
  • 71.75 (n)
  • 83.27 (a)
nkx2.2a 36
  • 84 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta vnd 36
  • 19 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ceh-22 36
  • 22 (a)
OneToMany
Species with no ortholog for NKX2-2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for NKX2-2 Gene

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

Paralogs for NKX2-2 Gene

Selected SIMAP similar genes for NKX2-2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with NKX2-2: view

Variants for NKX2-2 Gene

Sequence variations from dbSNP and Humsavar for NKX2-2 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type MAF
rs3746740 -- 21,510,915(-) TTCCT(C/T)TCGGG downstream-variant-500B
rs3746741 -- 21,510,760(-) CAGGG(C/T)CGCCC downstream-variant-500B
rs3787502 -- 21,515,117(-) GCCCA(A/G)AGGCA upstream-variant-2KB
rs3787503 -- 21,514,998(-) CAGAG(A/T)GGTGG upstream-variant-2KB
rs6035875 -- 21,513,967(+) ccggc(C/T)TTAGT utr-variant-5-prime, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for NKX2-2 Gene

Variant ID Type Subtype PubMed ID
nsv833941 CNV Gain 17160897
esv2659363 CNV Deletion 23128226

Relevant External Links for NKX2-2 Gene

HapMap Linkage Disequilibrium report
NKX2-2
Human Gene Mutation Database (HGMD)
NKX2-2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NKX2-2 Gene

Disorders for NKX2-2 Gene

(2) Novoseek inferred disease relationships for NKX2-2 Gene

Disease -log(P) Hits PubMed IDs
oligodendroglioma 60 3
glioma 27.9 1

Relevant External Links for NKX2-2

Genetic Association Database (GAD)
NKX2-2
Human Genome Epidemiology (HuGE) Navigator
NKX2-2
genes like me logo Genes that share disorders with NKX2-2: view

No data available for UniProtKB/Swiss-Prot for NKX2-2 Gene

Publications for NKX2-2 Gene

  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. (PMID: 9703340) Furuta H. … Bell G.I. (Diabetes 1998) 2 3 4 23
  2. Association studies of variants in the genes involved in pancreatic beta-cell function in type 2 diabetes in Japanese subjects. (PMID: 16873704) Yokoi N. … Seino S. (Diabetes 2006) 3 48
  3. Regional expression of the homeobox gene Nkx-2.2 in the developing mammalian forebrain. (PMID: 1346742) Price M. … Di Lauro R. (Neuron 1992) 2 3
  4. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P. … Rogers J. (Nature 2001) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for NKX2-2 Gene

Sources for NKX2-2 Gene

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