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Aliases for NKX2-2 Gene

Aliases for NKX2-2 Gene

  • NK2 Homeobox 2 2 3 5
  • Homeobox Protein NK-2 Homolog B 3 4
  • NKX2.2 3 4
  • NKX2B 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

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 Maturity-Onset Diabetes Of The Young and Oligodendroglioma. Among its related pathways are Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways and Regulation of beta-cell development. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity and chromatin binding. An important paralog of this gene is NKX2-3.

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

Additional gene information for NKX2-2 Gene

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

Genomics for NKX2-2 Gene

GeneHancer (GH) Regulatory Elements for NKX2-2 Gene

Promoters and enhancers for NKX2-2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20J021514 Promoter/Enhancer 1.2 EPDnew dbSUPER 650.7 0.0 -27 0.1 BACH1 MZF1 ZNF335 PRDM10 KLF8 EZH2 ZBTB10 L3MBTL2 SP2 ZNF398 NKX2-2 RPS15AP1 XRN2 GC20P021523 GC20P021326
GH20J021516 Enhancer 0.9 ENCODE dbSUPER 650.7 -0.2 -192 0.2 USF1 MAX BACH1 MZF1 ZNF335 ZFHX2 ZNF366 PATZ1 PRDM10 KLF8 NKX2-2 RPS15AP1 XRN2 GC20P021523 GC20P021326
GH20J021515 Enhancer 0.7 ENCODE dbSUPER 650.7 -1.5 -1452 0.2 SUZ12 BACH1 CTBP2 EZH2 NKX2-2 GC20P021523 GC20P021326
GH20J021517 Enhancer 0.6 FANTOM5 dbSUPER 653.4 -1.8 -1805 0.4 SUZ12 CTBP2 EZH2 NKX2-2 GC20P021523 GC20P021326
GH20J021520 Enhancer 0.6 ENCODE dbSUPER 650.7 -1.1 -1112 0.2 BACH1 SIN3A EZH2 NKX2-2 GC20P021523 GC20P021326
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NKX2-2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the NKX2-2 gene promoter:
  • Max
  • oct-B3
  • oct-B2
  • Oct-B1
  • GR-alpha
  • GR
  • HFH-1
  • USF1
  • USF-1
  • ATF

Genomic Locations for NKX2-2 Gene

Genomic Locations for NKX2-2 Gene
chr20:21,499,260-21,514,026
(GRCh38/hg38)
Size:
14,767 bases
Orientation:
Minus strand
chr20:21,491,648-21,494,664
(GRCh37/hg19)
Size:
3,017 bases
Orientation:
Minus strand

Genomic View for NKX2-2 Gene

Genes around NKX2-2 on UCSC Golden Path with GeneCards custom track

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

    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

Post-translational modifications for NKX2-2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NKX2-2 Gene

ENSEMBL proteins:
REFSEQ proteins:

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

Domains & Families for NKX2-2 Gene

Gene Families for NKX2-2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for NKX2-2 Gene

Suggested Antigen Peptide Sequences for NKX2-2 Gene

Graphical View of Domain Structure for InterPro Entry

O95096

UniProtKB/Swiss-Prot:

NKX22_HUMAN :
  • The homeodomain is essential for interaction with OLIG2.
  • Belongs to the NK-2 homeobox family.
Domain:
  • The homeodomain is essential for interaction with OLIG2.
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).

Phenotypes From GWAS Catalog for NKX2-2 Gene

Gene Ontology (GO) - Molecular Function for NKX2-2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding ISM 19274049
GO:0000987 proximal promoter sequence-specific DNA binding ISS,IEA --
GO:0003677 DNA binding IEA --
GO:0003682 chromatin binding ISS,IEA --
GO:0003700 DNA binding transcription factor activity IEA --
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

Transcription Factor Targets for NKX2-2 Gene

Selected GeneGlobe predicted Target genes for NKX2-2
Targeted motifs for NKX2-2 Gene
HOMER Transcription Factor Regulatory Elements motif NKX2-2
  • Consensus sequence: BTBRAGTGSN Submotif: canonical Cell Type: NPC GEO ID: GSE61673

Clone Products

No data available for Enzyme Numbers (IUBMB) and Human Phenotype Ontology for NKX2-2 Gene

Localization for NKX2-2 Gene

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

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NKX2-2 gene
Compartment Confidence
nucleus 5
extracellular 1
cytoskeleton 1

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

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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for NKX2-2 Gene

Pathways & Interactions for NKX2-2 Gene

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

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

No data available for SIGNOR curated interactions for NKX2-2 Gene

Drugs & Compounds for NKX2-2 Gene

No Compound Related Data Available

Transcripts for NKX2-2 Gene

mRNA/cDNA for NKX2-2 Gene

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

Unigene Clusters for NKX2-2 Gene

NK2 homeobox 2:
Representative Sequences:

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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) (x12.3), Brain - Substantia nigra (x6.4), and Pituitary (x4.3).

Protein differential expression in normal tissues from HIPED for NKX2-2 Gene

This gene is overexpressed in Plasma (63.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for NKX2-2 Gene



Protein tissue co-expression partners for NKX2-2 Gene

- Elite partner

SOURCE GeneReport for Unigene cluster for NKX2-2 Gene:

Hs.516922

Evidence on tissue expression from TISSUES for NKX2-2 Gene

  • Nervous system(4.6)
  • Pancreas(3.9)
genes like me logo Genes that share expression patterns with NKX2-2: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 34 33
  • 99.63 (n)
OneToOne
dog
(Canis familiaris)
Mammalia NKX2-2 34 33
  • 95.85 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NKX2-2 34 33
  • 94.75 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Nkx2-2 16 34 33
  • 93.16 (n)
oppossum
(Monodelphis domestica)
Mammalia NKX2-2 34
  • 93 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nkx2-2 33
  • 92.55 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia NKX2-2 34
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves NKX2-2 33
  • 83.09 (n)
lizard
(Anolis carolinensis)
Reptilia NKX2-2 34
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nkx2-2 33
  • 75.89 (n)
MGC75807 33
African clawed frog
(Xenopus laevis)
Amphibia nkx2-2-A 33
zebrafish
(Danio rerio)
Actinopterygii nkx2.2a 34 33
  • 71.75 (n)
OneToOne
nkx2.2 33
fruit fly
(Drosophila melanogaster)
Insecta vnd 34
  • 19 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ceh-22 34
  • 22 (a)
OneToMany
Species where no ortholog for NKX2-2 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for NKX2-2: view image

Paralogs for NKX2-2 Gene

Paralogs for NKX2-2 Gene

(6) SIMAP similar genes for NKX2-2 Gene using alignment to 1 proteins:

  • NKX22_HUMAN
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 Variation AA Info Type
rs1000266593 -- 21,512,181(-) G/T coding_sequence_variant, synonymous_variant
rs1000495673 -- 21,512,602(-) C/G intron_variant
rs1001704039 -- 21,511,360(-) C/T 3_prime_UTR_variant
rs1002257842 -- 21,516,004(-) T/C upstream_transcript_variant
rs1002600105 -- 21,513,764(-) TGGGGGGAGGGACTGGGGG/TGGGGG 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant

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

Variant ID Type Subtype PubMed ID
esv2659363 CNV deletion 23128226
nsv1072108 CNV deletion 25765185
nsv1118909 CNV deletion 24896259
nsv833941 CNV gain 17160897
nsv952998 CNV deletion 24416366

Variation tolerance for NKX2-2 Gene

Residual Variation Intolerance Score: 62.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.68; 57.12% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NKX2-2 Gene

Human Gene Mutation Database (HGMD)
NKX2-2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NKX2-2

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

Disorders for NKX2-2 Gene

MalaCards: The human disease database

(4) MalaCards diseases for NKX2-2 Gene - From: HGMD, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for NKX2-2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with NKX2-2: view

No data available for UniProtKB/Swiss-Prot and Genatlas 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 GI (Diabetes 1998) 2 3 4 22 58
  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 44 58
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  4. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P … Rogers J (Nature 2001) 3 4 58
  5. 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 58

Products for NKX2-2 Gene

Sources for NKX2-2 Gene

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