Details for: NKX2 1

Gene ID: 7080

Symbol: NKX2 1

Ensembl ID: ENSG00000136352

Description: NK2 homeobox 1

Associated with

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: ciliated cell of the bronchus (CL0002332)
    Fold Change: 6.5672
    Cell Significance Index: -6.2700
  • Cell Name: respiratory epithelial cell (CL0002368)
    Fold Change: 5.4436
    Cell Significance Index: 32.6200
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 5.1544
    Cell Significance Index: 104.8800
  • Cell Name: thyroid follicular cell (CL0002258)
    Fold Change: 4.4612
    Cell Significance Index: 47.4000
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 1.6316
    Cell Significance Index: 27.8900
  • Cell Name: respiratory goblet cell (CL0002370)
    Fold Change: 0.9738
    Cell Significance Index: 10.0500
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.5955
    Cell Significance Index: 411.8900
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.2382
    Cell Significance Index: 180.3300
  • Cell Name: pulmonary alveolar type 2 cell (CL0002063)
    Fold Change: 0.0012
    Cell Significance Index: 0.0100
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0109
    Cell Significance Index: -5.9500
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -0.0132
    Cell Significance Index: -0.3300
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0188
    Cell Significance Index: -6.7500
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0190
    Cell Significance Index: -5.4800
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0223
    Cell Significance Index: -4.4800
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0295
    Cell Significance Index: -5.8500
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0567
    Cell Significance Index: -6.5000
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: -0.0720
    Cell Significance Index: -0.7600
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0849
    Cell Significance Index: -5.2200
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.0933
    Cell Significance Index: -3.2700
  • Cell Name: epithelial cell of lower respiratory tract (CL0002632)
    Fold Change: -0.1039
    Cell Significance Index: -1.1600
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: -0.1044
    Cell Significance Index: -1.2300
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.1044
    Cell Significance Index: -7.0200
  • Cell Name: epithelial cell of lung (CL0000082)
    Fold Change: -0.1148
    Cell Significance Index: -1.0800
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.1204
    Cell Significance Index: -6.2700
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.1244
    Cell Significance Index: -6.4600
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.1273
    Cell Significance Index: -5.6300
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.1321
    Cell Significance Index: -4.3300
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.1333
    Cell Significance Index: -4.2500
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: -0.1338
    Cell Significance Index: -3.4100
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.1351
    Cell Significance Index: -6.3500
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.1476
    Cell Significance Index: -5.5900
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.1569
    Cell Significance Index: -5.7600
  • Cell Name: caudal ganglionic eminence derived cortical interneuron (CL4023064)
    Fold Change: -0.1625
    Cell Significance Index: -3.2400
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.1636
    Cell Significance Index: -4.0800
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.1689
    Cell Significance Index: -3.6500
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.1945
    Cell Significance Index: -4.0600
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: -0.1952
    Cell Significance Index: -2.9200
  • Cell Name: ciliated epithelial cell (CL0000067)
    Fold Change: -0.2080
    Cell Significance Index: -2.0600
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.2127
    Cell Significance Index: -5.7000
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: -0.2180
    Cell Significance Index: -4.2900
  • Cell Name: secretory cell (CL0000151)
    Fold Change: -0.2192
    Cell Significance Index: -1.5200
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.2210
    Cell Significance Index: -6.5100
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.2276
    Cell Significance Index: -4.5700
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.2280
    Cell Significance Index: -4.8400
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.2311
    Cell Significance Index: -4.5700
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.2456
    Cell Significance Index: -7.0100
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: -0.2465
    Cell Significance Index: -5.9700
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.2483
    Cell Significance Index: -6.6300
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: -0.2568
    Cell Significance Index: -4.4400
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: -0.2575
    Cell Significance Index: -4.1700
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -0.2582
    Cell Significance Index: -6.4400
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.2680
    Cell Significance Index: -4.4900
  • Cell Name: basal cell of epithelium of trachea (CL1000348)
    Fold Change: -0.2685
    Cell Significance Index: -2.3100
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.2698
    Cell Significance Index: -6.4700
  • Cell Name: pulmonary alveolar type 1 cell (CL0002062)
    Fold Change: -0.2806
    Cell Significance Index: -3.0800
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.2845
    Cell Significance Index: -6.2300
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.2908
    Cell Significance Index: -4.1700
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: -0.3136
    Cell Significance Index: -4.3000
  • Cell Name: lung ciliated cell (CL1000271)
    Fold Change: -0.3138
    Cell Significance Index: -3.0700
  • Cell Name: basal cell (CL0000646)
    Fold Change: -0.3143
    Cell Significance Index: -3.7400
  • Cell Name: stem cell (CL0000034)
    Fold Change: -0.3165
    Cell Significance Index: -2.3000
  • Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
    Fold Change: -0.3225
    Cell Significance Index: -5.5600
  • Cell Name: CD14-positive monocyte (CL0001054)
    Fold Change: -0.3227
    Cell Significance Index: -6.3100
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: -0.3313
    Cell Significance Index: -4.8100
  • Cell Name: thymocyte (CL0000893)
    Fold Change: -0.3411
    Cell Significance Index: -4.3100
  • Cell Name: erythroid progenitor cell (CL0000038)
    Fold Change: -0.3418
    Cell Significance Index: -4.4700
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: -0.3507
    Cell Significance Index: -4.4300
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: -0.3562
    Cell Significance Index: -4.2600
  • Cell Name: ciliated columnar cell of tracheobronchial tree (CL0002145)
    Fold Change: -0.3615
    Cell Significance Index: -3.3200
  • Cell Name: ciliated cell (CL0000064)
    Fold Change: -0.3621
    Cell Significance Index: -3.9200
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: -0.3748
    Cell Significance Index: -4.8500
  • Cell Name: hematopoietic multipotent progenitor cell (CL0000837)
    Fold Change: -0.3794
    Cell Significance Index: -4.5800
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: -0.3897
    Cell Significance Index: -4.7400
  • Cell Name: astrocyte (CL0000127)
    Fold Change: -0.3901
    Cell Significance Index: -4.4700
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: -0.3918
    Cell Significance Index: -6.5900
  • Cell Name: medium spiny neuron (CL1001474)
    Fold Change: -0.3920
    Cell Significance Index: -5.2900
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: -0.3999
    Cell Significance Index: -6.5900
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: -0.4001
    Cell Significance Index: -5.0700
  • Cell Name: serous secreting cell (CL0000313)
    Fold Change: -0.4017
    Cell Significance Index: -3.5400
  • Cell Name: neural cell (CL0002319)
    Fold Change: -0.4059
    Cell Significance Index: -4.7400
  • Cell Name: pulmonary capillary endothelial cell (CL4028001)
    Fold Change: -0.4090
    Cell Significance Index: -5.6000
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: -0.4096
    Cell Significance Index: -6.9000
  • Cell Name: L6 intratelencephalic projecting glutamatergic neuron of the primary motor cortex (CL4023050)
    Fold Change: -0.4127
    Cell Significance Index: -5.5100
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.4244
    Cell Significance Index: -5.7900
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: -0.4267
    Cell Significance Index: -5.9000
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: -0.4306
    Cell Significance Index: -5.6200
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: -0.4382
    Cell Significance Index: -8.1000
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.4454
    Cell Significance Index: -6.5800
  • Cell Name: helper T cell (CL0000912)
    Fold Change: -0.4497
    Cell Significance Index: -6.3900
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: -0.4514
    Cell Significance Index: -6.3400
  • Cell Name: immature astrocyte (CL0002626)
    Fold Change: -0.4562
    Cell Significance Index: -4.7700
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: -0.4566
    Cell Significance Index: -6.5000
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: -0.4606
    Cell Significance Index: -6.3900
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: -0.4624
    Cell Significance Index: -6.6400
  • Cell Name: progenitor cell (CL0011026)
    Fold Change: -0.4664
    Cell Significance Index: -4.9600
  • Cell Name: microglial cell (CL0000129)
    Fold Change: -0.4669
    Cell Significance Index: -5.4900
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: -0.4669
    Cell Significance Index: -5.0200
  • Cell Name: adipocyte (CL0000136)
    Fold Change: -0.4756
    Cell Significance Index: -6.3400
  • Cell Name: mast cell (CL0000097)
    Fold Change: -0.4757
    Cell Significance Index: -6.2600
  • Cell Name: respiratory basal cell (CL0002633)
    Fold Change: -0.4764
    Cell Significance Index: -4.7000

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:** 1. **Transcription factor**: NKX2.1 is a member of the homeobox gene family, which encodes transcription factors that regulate gene expression during development and differentiation. 2. **Diverse tissue expression**: NKX2.1 is widely expressed in various tissues, including the lung, brain, pancreas, and pituitary gland, suggesting its role in multiple developmental processes. 3. **Cell-type specificity**: NKX2.1 exhibits cell-type specificity, with distinct expression patterns in different cell types, such as type II pneumocytes, GABAergic interneurons, and oligodendrocytes. 4. **Regulatory interactions**: NKX2.1 interacts with other transcription factors, signaling pathways, and chromatin-modifying enzymes to regulate gene expression. **Pathways and Functions:** 1. **Cell differentiation**: NKX2.1 regulates the differentiation of various cell types, including type II pneumocytes, GABAergic interneurons, and oligodendrocytes, by controlling the expression of specific genes. 2. **Morphogenesis**: NKX2.1 is involved in the development and patterning of tissues, including the lung, brain, and pituitary gland, by regulating the expression of genes involved in cell migration, proliferation, and differentiation. 3. **Transcriptional regulation**: NKX2.1 acts as a transcriptional regulator, binding to specific DNA sequences and influencing the expression of target genes. 4. **Signaling pathway modulation**: NKX2.1 interacts with signaling pathways, including the Wnt/β-catenin and TGF-β pathways, to modulate gene expression and cellular behavior. **Clinical Significance:** 1. **Respiratory diseases**: Alterations in NKX2.1 expression have been linked to respiratory diseases, such as chronic obstructive pulmonary disease (COPD) and lung cancer. 2. **Neurological disorders**: NKX2.1 has been implicated in neurological disorders, including autism spectrum disorder, schizophrenia, and Parkinson's disease. 3. **Cancer**: NKX2.1 has been identified as a tumor suppressor gene in certain types of cancer, including lung cancer and pancreatic cancer. 4. **Gene therapy**: NKX2.1 has potential as a therapeutic target for gene therapy, offering a new approach to treating developmental and degenerative diseases. In conclusion, NKX2.1 is a critical transcription factor that regulates developmental processes, cellular differentiation, and tissue patterning. Its dysregulation has been implicated in various diseases, making it a valuable target for therapeutic intervention. Further research is needed to fully understand the mechanisms of NKX2.1 and its role in human disease.

Genular Protein ID: 22978039

Symbol: NKX21_HUMAN

Name: Homeobox protein Nkx-2.1

UniProtKB Accession Codes:

P43699 D3DSA3 O14954 O14955 Q7KZF6 Q9BRJ8

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BMRB 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 1 CTD 1 ComplexPortal 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 13 Ensembl 4 GO 53 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 7 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 4 OrthoDB 1 PANTHER 2 PIR 1 PRINTS 1 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 RNAct 1 RefSeq 2 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: 7711079

Title: The complete nucleotide sequence of the mouse thyroid-specific enhancer-binding protein (T/EBP) gene: extensive identity of the deduced amino acid sequence with the human protein.

PubMed ID: 7711079

DOI: 10.1016/0167-4781(95)00033-d

PubMed ID: 7711080

Title: Cloning and sequence analysis of human thyroid transcription factor 1.

PubMed ID: 7711080

DOI: 10.1016/0167-4781(95)00034-e

PubMed ID: 7713914

Title: Gene structure and expression of human thyroid transcription factor-1 in respiratory epithelial cells.

PubMed ID: 7713914

DOI: 10.1074/jbc.270.14.8108

PubMed ID: 9545595

Title: Structure of the human Nkx2.1 gene.

PubMed ID: 9545595

DOI: 10.1016/s0167-4781(97)00210-8

PubMed ID: 12508121

Title: The DNA sequence and analysis of human chromosome 14.

PubMed ID: 12508121

DOI: 10.1038/nature01348

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

PubMed ID: 19010321

Title: TAZ is a coactivator for Pax8 and TTF-1, two transcription factors involved in thyroid differentiation.

PubMed ID: 19010321

DOI: 10.1016/j.yexcr.2008.10.016

PubMed ID: 19176457

Title: A germline mutation (A339V) in thyroid transcription factor-1 (TITF-1/NKX2.1) in patients with multinodular goiter and papillary thyroid carcinoma.

PubMed ID: 19176457

DOI: 10.1093/jnci/djn471

PubMed ID: 11971878

Title: Mutations in TITF-1 are associated with benign hereditary chorea.

PubMed ID: 11971878

DOI: 10.1093/hmg/11.8.971

PubMed ID: 11854318

Title: Partial deficiency of thyroid transcription factor 1 produces predominantly neurological defects in humans and mice.

PubMed ID: 11854318

DOI: 10.1172/jci14192

PubMed ID: 11854319

Title: Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency.

PubMed ID: 11854319

DOI: 10.1172/jci14341

PubMed ID: 15289765

Title: Autosomal dominant transmission of congenital hypothyroidism, neonatal respiratory distress, and ataxia caused by a mutation of NKX2-1.

PubMed ID: 15289765

DOI: 10.1016/j.jpeds.2004.04.011

PubMed ID: 15955952

Title: A novel TITF-1 mutation causes benign hereditary chorea with response to levodopa.

PubMed ID: 15955952

DOI: 10.1212/01.wnl.0000164000.75046.cc

PubMed ID: 24453141

Title: A novel mutation of NKX2-1 affecting 2 generations with hypothyroidism and choreoathetosis: part of the spectrum of brain-thyroid-lung syndrome.

PubMed ID: 24453141

DOI: 10.1177/0883073813518243

PubMed ID: 24714694

Title: Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum.

PubMed ID: 24714694

DOI: 10.1136/jmedgenet-2013-102248

PubMed ID: 26723978

Title: Functional characterization of two novel mutations in TTF-1/NKX2.1 homeodomain in patients with benign hereditary chorea.

PubMed ID: 26723978

DOI: 10.1016/j.jns.2015.11.050

Sequence Information:

  • Length: 371
  • Mass: 38596
  • Checksum: 5F1E3B40A1BBD862
  • Sequence:
    • MSMSPKHTTP FSVSDILSPL EESYKKVGME GGGLGAPLAA YRQGQAAPPT AAMQQHAVGH 
HGAVTAAYHM TAAGVPQLSH SAVGGYCNGN LGNMSELPPY QDTMRNSASG PGWYGANPDP 
RFPAISRFMG PASGMNMSGM GGLGSLGDVS KNMAPLPSAP RRKRRVLFSQ AQVYELERRF 
KQQKYLSAPE REHLASMIHL TPTQVKIWFQ NHRYKMKRQA KDKAAQQQLQ QDSGGGGGGG 
GTGCPQQQQA QQQSPRRVAV PVLVKDGKPC QAGAPAPGAA SLQGHAQQQA QHQAQAAQAA 
AAAISVGSGG AGLGAHPGHQ PGSAGQSPDL AHHAASPAAL QGQVSSLSHL NSSGSDYGTM 
SCSTLLYGRT W

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.