Details for: NKX2 2

Gene ID: 4821

Symbol: NKX2 2

Ensembl ID: ENSG00000125820

Description: NK2 homeobox 2

Associated with

  • Developmental biology
    (R-HSA-1266738)
  • Regulation of beta-cell development
    (R-HSA-186712)
  • Regulation of gene expression in beta cells
    (R-HSA-210745)
  • Regulation of gene expression in endocrine-committed (neurog3+) progenitor cells
    (R-HSA-210746)
  • Astrocyte differentiation
    (GO:0048708)
  • Brain development
    (GO:0007420)
  • Cell differentiation
    (GO:0030154)
  • Chromatin
    (GO:0000785)
  • Cis-regulatory region sequence-specific dna binding
    (GO:0000987)
  • Digestive tract development
    (GO:0048565)
  • Dna-binding transcription activator activity, rna polymerase ii-specific
    (GO:0001228)
  • Dna-binding transcription factor activity, rna polymerase ii-specific
    (GO:0000981)
  • Negative regulation of neuron differentiation
    (GO:0045665)
  • Neuroendocrine cell differentiation
    (GO:0061101)
  • Neuron fate specification
    (GO:0048665)
  • Nucleoplasm
    (GO:0005654)
  • Nucleus
    (GO:0005634)
  • Oligodendrocyte development
    (GO:0014003)
  • Optic nerve development
    (GO:0021554)
  • Pancreatic a cell fate commitment
    (GO:0003326)
  • Pancreatic pp cell fate commitment
    (GO:0003329)
  • Positive regulation of epithelial cell differentiation
    (GO:0030858)
  • Positive regulation of gene expression
    (GO:0010628)
  • Positive regulation of neuron differentiation
    (GO:0045666)
  • Positive regulation of oligodendrocyte differentiation
    (GO:0048714)
  • Positive regulation of transcription by rna polymerase ii
    (GO:0045944)
  • Protein binding
    (GO:0005515)
  • Regulation of transcription by rna polymerase ii
    (GO:0006357)
  • Response to glucose
    (GO:0009749)
  • Response to progesterone
    (GO:0032570)
  • Rna polymerase ii cis-regulatory region sequence-specific dna binding
    (GO:0000978)
  • Smoothened signaling pathway
    (GO:0007224)
  • Spinal cord motor neuron differentiation
    (GO:0021522)
  • Spinal cord oligodendrocyte cell fate specification
    (GO:0021530)
  • Type b pancreatic cell development
    (GO:0003323)
  • Type b pancreatic cell fate commitment
    (GO:0003327)
  • Ventral spinal cord interneuron fate determination
    (GO:0060580)

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 5.5803
    Cell Significance Index: 342.1300
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 2.1064
    Cell Significance Index: 67.4700
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 2.0746
    Cell Significance Index: 94.0400
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: 1.0547
    Cell Significance Index: 17.3800
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.8209
    Cell Significance Index: 741.2600
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.7424
    Cell Significance Index: 15.8100
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 0.6644
    Cell Significance Index: 10.7600
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.5728
    Cell Significance Index: 62.3100
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.5339
    Cell Significance Index: 32.0500
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.4890
    Cell Significance Index: 79.5300
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.4100
    Cell Significance Index: 3.3200
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.3671
    Cell Significance Index: 69.8600
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.3068
    Cell Significance Index: 21.2200
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.2221
    Cell Significance Index: 21.9800
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0727
    Cell Significance Index: 2.5600
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.0600
    Cell Significance Index: 1.7300
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 0.0083
    Cell Significance Index: 6.1300
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.0037
    Cell Significance Index: 0.0800
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0044
    Cell Significance Index: -2.7500
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0046
    Cell Significance Index: -0.9700
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0077
    Cell Significance Index: -4.3600
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0231
    Cell Significance Index: -8.2900
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0266
    Cell Significance Index: -4.5500
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0309
    Cell Significance Index: -8.8900
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0443
    Cell Significance Index: -8.7900
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.0449
    Cell Significance Index: -5.1200
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0451
    Cell Significance Index: -9.0500
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0735
    Cell Significance Index: -8.4200
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0782
    Cell Significance Index: -9.1200
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.0829
    Cell Significance Index: -1.7200
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0913
    Cell Significance Index: -10.7700
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.1001
    Cell Significance Index: -10.2300
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: -0.1293
    Cell Significance Index: -2.2100
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.1362
    Cell Significance Index: -9.1600
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.1590
    Cell Significance Index: -9.7700
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: -0.1677
    Cell Significance Index: -2.9000
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.1819
    Cell Significance Index: -10.2100
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: -0.1828
    Cell Significance Index: -1.9600
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.2342
    Cell Significance Index: -3.5300
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.2348
    Cell Significance Index: -5.8700
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.2433
    Cell Significance Index: -10.7600
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.2532
    Cell Significance Index: -11.9000
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.2720
    Cell Significance Index: -9.5300
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.2908
    Cell Significance Index: -11.0100
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.2920
    Cell Significance Index: -9.5600
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.3005
    Cell Significance Index: -9.5700
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: -0.3112
    Cell Significance Index: -7.9300
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.3234
    Cell Significance Index: -9.2300
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: -0.3435
    Cell Significance Index: -6.9900
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.3445
    Cell Significance Index: -9.2300
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.3605
    Cell Significance Index: -9.4800
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.3665
    Cell Significance Index: -10.8000
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.3764
    Cell Significance Index: -10.7900
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -0.3800
    Cell Significance Index: -9.4900
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.3837
    Cell Significance Index: -9.5700
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.4087
    Cell Significance Index: -8.9500
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.4463
    Cell Significance Index: -9.6400
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.4627
    Cell Significance Index: -9.8200
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.4636
    Cell Significance Index: -9.6800
  • Cell Name: glial cell (CL0000125)
    Fold Change: -0.4650
    Cell Significance Index: -5.1000
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.4676
    Cell Significance Index: -11.2200
  • Cell Name: P/D1 enteroendocrine cell (CL0002268)
    Fold Change: -0.4783
    Cell Significance Index: -5.3500
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.4820
    Cell Significance Index: -10.0900
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.4871
    Cell Significance Index: -9.7800
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.4927
    Cell Significance Index: -8.2500
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.4946
    Cell Significance Index: -9.7800
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: -0.4994
    Cell Significance Index: -9.8300
  • Cell Name: caudal ganglionic eminence derived cortical interneuron (CL4023064)
    Fold Change: -0.5005
    Cell Significance Index: -9.9800
  • Cell Name: macroglial cell (CL0000126)
    Fold Change: -0.5009
    Cell Significance Index: -5.8000
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.5017
    Cell Significance Index: -10.7300
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: -0.5126
    Cell Significance Index: -6.6900
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.5144
    Cell Significance Index: -5.3300
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.5213
    Cell Significance Index: -14.1900
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: -0.5301
    Cell Significance Index: -7.2700
  • Cell Name: hippocampal astrocyte (CL0002604)
    Fold Change: -0.5478
    Cell Significance Index: -7.6600
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.5586
    Cell Significance Index: -8.0000
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: -0.5613
    Cell Significance Index: -9.4400
  • Cell Name: endocrine cell (CL0000163)
    Fold Change: -0.5841
    Cell Significance Index: -7.0600
  • Cell Name: CD14-positive monocyte (CL0001054)
    Fold Change: -0.5861
    Cell Significance Index: -11.4600
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.6016
    Cell Significance Index: -10.3100
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: -0.6059
    Cell Significance Index: -7.8400
  • Cell Name: chromaffin cell (CL0000166)
    Fold Change: -0.6127
    Cell Significance Index: -6.7500
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: -0.6213
    Cell Significance Index: -9.0200
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: -0.6323
    Cell Significance Index: -9.4600
  • Cell Name: neuroendocrine cell (CL0000165)
    Fold Change: -0.6396
    Cell Significance Index: -8.1000
  • Cell Name: enteroendocrine cell (CL0000164)
    Fold Change: -0.6536
    Cell Significance Index: -6.9100
  • Cell Name: pancreatic epsilon cell (CL0005019)
    Fold Change: -0.6681
    Cell Significance Index: -6.1900
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: -0.6714
    Cell Significance Index: -9.4300
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: -0.6751
    Cell Significance Index: -10.2700
  • Cell Name: astrocyte (CL0000127)
    Fold Change: -0.6763
    Cell Significance Index: -7.7400
  • Cell Name: neural cell (CL0002319)
    Fold Change: -0.6763
    Cell Significance Index: -7.8900
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: -0.6821
    Cell Significance Index: -9.4600
  • Cell Name: progenitor cell (CL0011026)
    Fold Change: -0.6881
    Cell Significance Index: -7.3100
  • Cell Name: differentiation-committed oligodendrocyte precursor (CL4023059)
    Fold Change: -0.6903
    Cell Significance Index: -8.1900
  • Cell Name: retinal blood vessel endothelial cell (CL0002585)
    Fold Change: -0.6912
    Cell Significance Index: -8.9300
  • Cell Name: Bergmann glial cell (CL0000644)
    Fold Change: -0.6989
    Cell Significance Index: -8.4500
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.7092
    Cell Significance Index: -10.4700
  • Cell Name: hippocampal interneuron (CL1001569)
    Fold Change: -0.7094
    Cell Significance Index: -9.2000
  • Cell Name: acinar cell (CL0000622)
    Fold Change: -0.7118
    Cell Significance Index: -8.9400
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: -0.7129
    Cell Significance Index: -7.5200

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** The NKX2.2 gene is a homeobox gene that encodes a transcription factor belonging to the NK2 family. It is highly conserved across species, suggesting its importance in fundamental biological processes. The NKX2.2 protein is a transcriptional activator that regulates the expression of target genes involved in cellular differentiation, development, and organogenesis. **Pathways and Functions:** The NKX2.2 gene is involved in numerous biological pathways, including: 1. **Astrocyte differentiation**: NKX2.2 regulates the expression of genes involved in astrocyte development and function. 2. **Brain development**: NKX2.2 is essential for the development of the brain, including the formation of neurons, glial cells, and the blood-brain barrier. 3. **Cell differentiation**: NKX2.2 regulates the expression of genes involved in the differentiation of various cell types, including neurons, oligodendrocytes, and pancreatic cells. 4. **Chromatin regulation**: NKX2.2 interacts with chromatin remodeling complexes to regulate gene expression. 5. **Transcriptional regulation**: NKX2.2 acts as a transcriptional activator, regulating the expression of target genes involved in various biological processes. **Clinical Significance:** Dysregulation of the NKX2.2 gene has been implicated in various diseases and disorders, including: 1. **Neurological disorders**: Mutations in the NKX2.2 gene have been linked to neurological disorders, such as autism spectrum disorder, schizophrenia, and intellectual disability. 2. **Pancreatic cancer**: NKX2.2 is involved in the regulation of pancreatic cell fate commitment, and its dysregulation may contribute to the development of pancreatic cancer. 3. **Neuroendocrine tumors**: NKX2.2 is also involved in the regulation of neuroendocrine cell differentiation, and its dysregulation may contribute to the development of neuroendocrine tumors. In conclusion, the NKX2.2 gene is a critical transcription factor involved in various developmental processes and cellular differentiation. Its dysregulation has been implicated in various diseases and disorders, highlighting its importance as a potential therapeutic target for the treatment of these conditions. **Proteins:** The NKX2.2 protein is a transcriptional activator that regulates the expression of target genes involved in cellular differentiation, development, and organogenesis. The protein binds to specific DNA sequences, known as homeobox elements, to activate transcription. **Significantly Expressed Cells:** The NKX2.2 gene is expressed in various cell types, including: 1. **Blood vessel endothelial cells** 2. **Erythrocytes** 3. **Endocrine cells** 4. **P/D1 enteroendocrine cells** 5. **Malignant cells** 6. **Enterocytes of the epithelium of the large intestine** 7. **Oligodendrocytes** 8. **Goblet cells** 9. **Enterocytes of the epithelium of the small intestine** 10. **Transit amplifying cells of the small intestine** Overall, the NKX2.2 gene plays a crucial role in the regulation of developmental processes and cellular differentiation, and its dysregulation has been implicated in various diseases and disorders. Further research is needed to fully understand the mechanisms of action of this gene and its potential therapeutic applications.

Genular Protein ID: 1435449841

Symbol: NKX22_HUMAN

Name: Homeobox protein Nkx-2.2

UniProtKB Accession Codes:

O95096

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 5 Ensembl 1 GO 31 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 1 MINT 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PRINTS 1 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 RNAct 1 Reactome 2 RefSeq 1 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 9703340

Title: 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

DOI: 10.2337/diab.47.8.1356

PubMed ID: 11780052

Title: The DNA sequence and comparative analysis of human chromosome 20.

PubMed ID: 11780052

DOI: 10.1038/414865a

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

Sequence Information:

  • Length: 273
  • Mass: 30133
  • Checksum: 91BDA220BAFA63D1
  • Sequence:
    • MSLTNTKTGF SVKDILDLPD TNDEEGSVAE GPEEENEGPE PAKRAGPLGQ GALDAVQSLP 
LKNPFYDSSD NPYTRWLAST EGLQYSLHGL AAGAPPQDSS SKSPEPSADE SPDNDKETPG 
GGGDAGKKRK RRVLFSKAQT YELERRFRQQ RYLSAPEREH LASLIRLTPT QVKIWFQNHR 
YKMKRARAEK GMEVTPLPSP RRVAVPVLVR DGKPCHALKA QDLAAATFQA GIPFSAYSAQ 
SLQHMQYNAQ YSSASTPQYP TAHPLVQAQQ WTW

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.