Details for: NKX2 5

Gene ID: 1482

Symbol: NKX2 5

Ensembl ID: ENSG00000183072

Description: NK2 homeobox 5

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: fetal cardiomyocyte (CL0002495)
    Fold Change: 7.1638
    Cell Significance Index: 20.5300
  • Cell Name: ventricular cardiac muscle cell (CL2000046)
    Fold Change: 2.8348
    Cell Significance Index: 12.5500
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.4203
    Cell Significance Index: 32.2500
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 0.3915
    Cell Significance Index: 5.7800
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: 0.2049
    Cell Significance Index: 2.9400
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.0667
    Cell Significance Index: 13.2300
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: 0.0282
    Cell Significance Index: 0.4700
  • Cell Name: thymocyte (CL0000893)
    Fold Change: 0.0277
    Cell Significance Index: 0.3500
  • Cell Name: pulmonary alveolar type 1 cell (CL0002062)
    Fold Change: 0.0091
    Cell Significance Index: 0.1000
  • Cell Name: neural progenitor cell (CL0011020)
    Fold Change: 0.0091
    Cell Significance Index: 0.0900
  • Cell Name: hematopoietic cell (CL0000988)
    Fold Change: 0.0041
    Cell Significance Index: 0.0600
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0009
    Cell Significance Index: -1.7300
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.0017
    Cell Significance Index: -0.0700
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0018
    Cell Significance Index: -0.1800
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0025
    Cell Significance Index: -1.8500
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0028
    Cell Significance Index: -1.5900
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0033
    Cell Significance Index: -1.7800
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0033
    Cell Significance Index: -0.4300
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0038
    Cell Significance Index: -1.7100
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.0040
    Cell Significance Index: -0.1100
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: -0.0052
    Cell Significance Index: -0.0700
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0053
    Cell Significance Index: -0.6100
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.0055
    Cell Significance Index: -0.0800
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: -0.0057
    Cell Significance Index: -0.0700
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0060
    Cell Significance Index: -1.7300
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0080
    Cell Significance Index: -1.6100
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -0.0102
    Cell Significance Index: -0.2500
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0112
    Cell Significance Index: -1.3100
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0132
    Cell Significance Index: -1.8100
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0147
    Cell Significance Index: -1.7300
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0162
    Cell Significance Index: -1.2100
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0167
    Cell Significance Index: -1.7400
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: -0.0202
    Cell Significance Index: -0.2900
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.0233
    Cell Significance Index: -1.2100
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0251
    Cell Significance Index: -1.6900
  • Cell Name: oral mucosa squamous cell (CL1001576)
    Fold Change: -0.0256
    Cell Significance Index: -0.2200
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0258
    Cell Significance Index: -1.4500
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.0277
    Cell Significance Index: -1.7900
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0280
    Cell Significance Index: -1.2700
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0285
    Cell Significance Index: -1.3300
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: -0.0289
    Cell Significance Index: -0.3700
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0300
    Cell Significance Index: -5.1200
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0305
    Cell Significance Index: -1.4400
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.0362
    Cell Significance Index: -1.3300
  • Cell Name: perivascular cell (CL4033054)
    Fold Change: -0.0390
    Cell Significance Index: -0.1800
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.0394
    Cell Significance Index: -1.0600
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0404
    Cell Significance Index: -1.7900
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.0417
    Cell Significance Index: -1.4600
  • Cell Name: epithelial cell of lung (CL0000082)
    Fold Change: -0.0462
    Cell Significance Index: -0.4400
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.0494
    Cell Significance Index: -1.2700
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.0513
    Cell Significance Index: -1.3500
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.0515
    Cell Significance Index: -1.6900
  • Cell Name: subcutaneous adipocyte (CL0002521)
    Fold Change: -0.0525
    Cell Significance Index: -0.2300
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.0527
    Cell Significance Index: -1.6800
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.0562
    Cell Significance Index: -1.6600
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: -0.0565
    Cell Significance Index: -0.9500
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.0586
    Cell Significance Index: -1.6800
  • Cell Name: caudal ganglionic eminence derived cortical interneuron (CL4023064)
    Fold Change: -0.0587
    Cell Significance Index: -1.1700
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: -0.0593
    Cell Significance Index: -0.8200
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0635
    Cell Significance Index: -1.7000
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: -0.0648
    Cell Significance Index: -1.6500
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -0.0656
    Cell Significance Index: -1.6000
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -0.0661
    Cell Significance Index: -1.6500
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.0669
    Cell Significance Index: -1.6700
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: -0.0675
    Cell Significance Index: -0.9700
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: -0.0685
    Cell Significance Index: -1.0400
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0717
    Cell Significance Index: -1.2000
  • Cell Name: mural cell (CL0008034)
    Fold Change: -0.0731
    Cell Significance Index: -0.8900
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: -0.0739
    Cell Significance Index: -1.7900
  • Cell Name: acinar cell (CL0000622)
    Fold Change: -0.0744
    Cell Significance Index: -0.9400
  • Cell Name: suprabasal keratinocyte (CL4033013)
    Fold Change: -0.0753
    Cell Significance Index: -1.2100
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.0754
    Cell Significance Index: -1.6500
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: -0.0776
    Cell Significance Index: -0.8000
  • Cell Name: embryonic fibroblast (CL2000042)
    Fold Change: -0.0784
    Cell Significance Index: -0.3800
  • Cell Name: endocardial cell (CL0002350)
    Fold Change: -0.0796
    Cell Significance Index: -0.4700
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.0805
    Cell Significance Index: -1.7400
  • Cell Name: helper T cell (CL0000912)
    Fold Change: -0.0809
    Cell Significance Index: -1.1500
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: -0.0813
    Cell Significance Index: -1.6000
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.0815
    Cell Significance Index: -1.7300
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.0815
    Cell Significance Index: -1.5900
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: -0.0836
    Cell Significance Index: -1.1600
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: -0.0844
    Cell Significance Index: -0.8900
  • Cell Name: neuroendocrine cell (CL0000165)
    Fold Change: -0.0845
    Cell Significance Index: -1.0700
  • Cell Name: CD14-positive monocyte (CL0001054)
    Fold Change: -0.0849
    Cell Significance Index: -1.6600
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.0852
    Cell Significance Index: -1.7100
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.0870
    Cell Significance Index: -1.7200
  • Cell Name: melanocyte of skin (CL1000458)
    Fold Change: -0.0892
    Cell Significance Index: -1.2500
  • Cell Name: erythroid progenitor cell (CL0000038)
    Fold Change: -0.0895
    Cell Significance Index: -1.1700
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: -0.0898
    Cell Significance Index: -1.6600
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.0922
    Cell Significance Index: -1.9300
  • Cell Name: blood vessel smooth muscle cell (CL0019018)
    Fold Change: -0.0932
    Cell Significance Index: -0.8800
  • Cell Name: obsolete animal cell (CL0000548)
    Fold Change: -0.0937
    Cell Significance Index: -0.9500
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: -0.0942
    Cell Significance Index: -1.5300
  • Cell Name: fibroblast (CL0000057)
    Fold Change: -0.0948
    Cell Significance Index: -0.8900
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: -0.0962
    Cell Significance Index: -1.7000
  • Cell Name: pericyte (CL0000669)
    Fold Change: -0.0972
    Cell Significance Index: -1.1700
  • Cell Name: CD8-positive, alpha-beta memory T cell, CD45RO-positive (CL0001203)
    Fold Change: -0.0983
    Cell Significance Index: -1.0200
  • Cell Name: neuroplacodal cell (CL0000032)
    Fold Change: -0.0983
    Cell Significance Index: -1.2100
  • Cell Name: basal cell (CL0000646)
    Fold Change: -0.0992
    Cell Significance Index: -1.1800
  • Cell Name: endothelial cell of vascular tree (CL0002139)
    Fold Change: -0.0998
    Cell Significance Index: -1.3700

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** NKX2.5 is a transcription factor that belongs to the NK2 homeobox gene family. It is characterized by its ability to bind to specific DNA sequences and regulate the expression of target genes involved in cardiac development and function. Key features of NKX2.5 include: * High expression levels in fetal cardiomyocytes and cardiac muscle cells * Ability to regulate cardiac conduction and muscle contraction * Involvement in the specification and differentiation of cardiac cells * Interaction with other transcription factors and signaling pathways to regulate cardiac development **Pathways and Functions** NKX2.5 plays a critical role in various signaling pathways involved in cardiac development and function. Some of the key pathways and functions of NKX2.5 include: * **Cardiac development**: NKX2.5 regulates the specification and differentiation of cardiac cells, including cardiomyocytes, conduction cells, and smooth muscle cells. * **Cardiac conduction**: NKX2.5 regulates the expression of genes involved in cardiac conduction, including those encoding ion channels and gap junction proteins. * **Muscle contraction**: NKX2.5 regulates the expression of genes involved in cardiac muscle contraction, including those encoding contractile proteins and calcium-handling proteins. * **Apoptosis**: NKX2.5 regulates the expression of anti-apoptotic genes, preventing excessive cell death during cardiac development. * **Transcriptional regulation**: NKX2.5 regulates the expression of target genes involved in cardiac development and function, including those encoding transcription factors, ion channels, and contractile proteins. **Clinical Significance** Dysregulation of NKX2.5 has been implicated in several cardiac disorders, including: * **Arrhythmias**: NKX2.5 mutations have been associated with arrhythmogenic right ventricular cardiomyopathy and other cardiac arrhythmias. * **Congenital heart defects**: NKX2.5 mutations have been associated with congenital heart defects, including atrial septal defects and ventricular septal defects. * **Cardiac hypertrophy**: NKX2.5 dysregulation has been implicated in cardiac hypertrophy and failure. * **Cardiac conduction disorders**: NKX2.5 mutations have been associated with cardiac conduction disorders, including Wolff-Parkinson-White syndrome. In summary, NKX2.5 is a critical transcription factor involved in the development and regulation of cardiac cells, and its dysregulation has been implicated in several cardiac disorders. Further research is needed to fully understand the mechanisms by which NKX2.5 regulates cardiac development and function, and to develop therapeutic strategies for the treatment of cardiac disorders associated with NKX2.5 dysregulation.

Genular Protein ID: 3056487985

Symbol: NKX25_HUMAN

Name: Homeobox protein Nkx-2.5

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 8900537

Title: Molecular cloning, chromosomal mapping, and characterization of the human cardiac-specific homeobox gene hCsx.

PubMed ID: 8900537

DOI: 10.1007/bf03402205

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15372022

Title: The DNA sequence and comparative analysis of human chromosome 5.

PubMed ID: 15372022

DOI: 10.1038/nature02919

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: 21403123

Title: Formation of the building plan of the human heart: morphogenesis, growth, and differentiation.

PubMed ID: 21403123

DOI: 10.1161/circulationaha.110.980607

PubMed ID: 22560297

Title: Congenital asplenia in mice and humans with mutations in a Pbx/Nkx2-5/p15 module.

PubMed ID: 22560297

DOI: 10.1016/j.devcel.2012.02.009

PubMed ID: 29899023

Title: NEDD9 targets COL3A1 to promote endothelial fibrosis and pulmonary arterial hypertension.

PubMed ID: 29899023

DOI: 10.1126/scitranslmed.aap7294

PubMed ID: 22849347

Title: Crystal structure of the human NKX2.5 homeodomain in complex with DNA target.

PubMed ID: 22849347

DOI: 10.1021/bi300849c

PubMed ID: 26926761

Title: Intermolecular interactions of cardiac transcription factors NKX2.5 and TBX5.

PubMed ID: 26926761

DOI: 10.1021/acs.biochem.6b00171

PubMed ID: 9651244

Title: Congenital heart disease caused by mutations in the transcription factor NKX2-5.

PubMed ID: 9651244

DOI: 10.1126/science.281.5373.108

PubMed ID: 10587520

Title: Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways.

PubMed ID: 10587520

DOI: 10.1172/jci8154

PubMed ID: 11714651

Title: NKX2.5 mutations in patients with tetralogy of fallot.

PubMed ID: 11714651

DOI: 10.1161/hc4601.098427

PubMed ID: 14607454

Title: NKX2.5 mutations in patients with congenital heart disease.

PubMed ID: 14607454

DOI: 10.1016/j.jacc.2003.05.004

PubMed ID: 15342699

Title: Somatic NKX2-5 mutations as a novel mechanism of disease in complex congenital heart disease.

PubMed ID: 15342699

DOI: 10.1136/jmg.2003.017483

PubMed ID: 15810002

Title: Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect.

PubMed ID: 15810002

DOI: 10.1002/ajmg.a.30684

PubMed ID: 16418214

Title: Missense mutation in the transcription factor NKX2-5: a novel molecular event in the pathogenesis of thyroid dysgenesis.

PubMed ID: 16418214

DOI: 10.1210/jc.2005-1350

PubMed ID: 17891434

Title: The effect of p.Arg25Cys alteration in NKX2-5 on conotruncal heart anomalies: mutation or polymorphism?

PubMed ID: 17891434

DOI: 10.1007/s00246-007-9058-2

PubMed ID: 21110066

Title: Mutations of the GATA4 and NKX2.5 genes in Chinese pediatric patients with non-familial congenital heart disease.

PubMed ID: 21110066

DOI: 10.1007/s10709-010-9522-4

PubMed ID: 19948535

Title: Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot.

PubMed ID: 19948535

DOI: 10.1136/jmg.2009.070391

PubMed ID: 21165553

Title: A novel NKX2-5 mutation in familial ventricular septal defect.

PubMed ID: 21165553

DOI: 10.3892/ijmm.2010.585

Sequence Information:

  • Length: 324
  • Mass: 34918
  • Checksum: ACCC9C2F9C292586
  • Sequence:
  • MFPSPALTPT PFSVKDILNL EQQQRSLAAA GELSARLEAT LAPSSCMLAA FKPEAYAGPE 
    AAAPGLPELR AELGRAPSPA KCASAFPAAP AFYPRAYSDP DPAKDPRAEK KELCALQKAV 
    ELEKTEADNA ERPRARRRRK PRVLFSQAQV YELERRFKQQ RYLSAPERDQ LASVLKLTST 
    QVKIWFQNRR YKCKRQRQDQ TLELVGLPPP PPPPARRIAV PVLVRDGKPC LGDSAPYAPA 
    YGVGLNPYGY NAYPAYPGYG GAACSPGYSC TAAYPAGPSP AQPATAAANN NFVNFGVGDL 
    NAVQSPGIPQ SNSGVSTLHG IRAW

Genular Protein ID: 411150691

Symbol: E5RH49_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 15372022

Title: The DNA sequence and comparative analysis of human chromosome 5.

PubMed ID: 15372022

DOI: 10.1038/nature02919

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

Sequence Information:

  • Length: 142
  • Mass: 15011
  • Checksum: B107C93315C91DEF
  • Sequence:
  • MFPSPALTPT PFSVKDILNL EQQQRSLAAA GELSARLEAT LAPSSCMLAA FKPEAYAGPE 
    AAAPGLPELR AELGRAPSPA KCASAFPAAP AFYPRAYSDP DPAKDPRAEK KAQLAGAARA 
    ERFPRGKVRK CCATAGTREW TR

Genular Protein ID: 1102155577

Symbol: A0A0S2Z3K2_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 26871637

Title: Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.

PubMed ID: 26871637

DOI: 10.1016/j.cell.2016.01.029

Sequence Information:

  • Length: 112
  • Mass: 11681
  • Checksum: 1DED387CB9297E28
  • Sequence:
  • MFPSPALTPT PFSVKDILNL EQQQRSLAAA GELSARLEAT LAPSSCMLAA FKPEAYAGPE 
    AAAPGLPELR AELGRAPSPA KCASAFPAAP AFYPRAYSDP DPAKDPRAEK KA

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.