Details for: NKX2 5

Gene ID: 1482

Symbol: NKX2 5

Ensembl ID: ENSG00000183072

Description: NK2 homeobox 5

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 4.3
    Marker Score: 5313
  • Cell Name: fetal cardiomyocyte (CL0002495)
    Fold Change: 2.53
    Marker Score: 833
  • Cell Name: microglial cell (CL0000129)
    Fold Change: 2.44
    Marker Score: 4447
  • Cell Name: blood vessel endothelial cell (CL0000071)
    Fold Change: 2.43
    Marker Score: 2446
  • Cell Name: plasma cell (CL0000786)
    Fold Change: 1.99
    Marker Score: 2226
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.48
    Marker Score: 169568
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.32
    Marker Score: 20616
  • Cell Name: B cell (CL0000236)
    Fold Change: 1.26
    Marker Score: 1196
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 1.16
    Marker Score: 7693
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 1.08
    Marker Score: 2040
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71831
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48058
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30408
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2413
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.94
    Marker Score: 5356
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.92
    Marker Score: 2742
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.91
    Marker Score: 1851
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.9
    Marker Score: 1466
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5290
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 0.87
    Marker Score: 19407
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 0.8
    Marker Score: 2827
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.78
    Marker Score: 713
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.78
    Marker Score: 402
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.76
    Marker Score: 443
  • Cell Name: T cell (CL0000084)
    Fold Change: 0.76
    Marker Score: 1314
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: 0.75
    Marker Score: 1204
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 0.72
    Marker Score: 493
  • Cell Name: pericyte (CL0000669)
    Fold Change: 0.69
    Marker Score: 404
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.67
    Marker Score: 531
  • Cell Name: malignant cell (CL0001064)
    Fold Change: 0.66
    Marker Score: 8840
  • Cell Name: ventricular cardiac muscle cell (CL2000046)
    Fold Change: 0.62
    Marker Score: 259
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 0.51
    Marker Score: 6803
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.51
    Marker Score: 304
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.49
    Marker Score: 232
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.47
    Marker Score: 283
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.47
    Marker Score: 801
  • Cell Name: fibroblast (CL0000057)
    Fold Change: 0.41
    Marker Score: 398
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.38
    Marker Score: 169
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 0.33
    Marker Score: 293
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 0.23
    Marker Score: 244
  • Cell Name: hematopoietic cell (CL0000988)
    Fold Change: 0.2
    Marker Score: 134
  • Cell Name: capillary endothelial cell (CL0002144)
    Fold Change: 0.2
    Marker Score: 214
  • Cell Name: neural progenitor cell (CL0011020)
    Fold Change: 0.2
    Marker Score: 756
  • Cell Name: Mueller cell (CL0000636)
    Fold Change: 0.19
    Marker Score: 264
  • Cell Name: glial cell (CL0000125)
    Fold Change: 0.19
    Marker Score: 204
  • Cell Name: lymphocyte (CL0000542)
    Fold Change: 0.18
    Marker Score: 89
  • Cell Name: endothelial cell of lymphatic vessel (CL0002138)
    Fold Change: 0.17
    Marker Score: 108
  • Cell Name: endothelial cell of artery (CL1000413)
    Fold Change: 0.15
    Marker Score: 63
  • Cell Name: secretory cell (CL0000151)
    Fold Change: 0.15
    Marker Score: 266
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 0.13
    Marker Score: 269
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.13
    Marker Score: 774
  • Cell Name: neuroendocrine cell (CL0000165)
    Fold Change: 0.11
    Marker Score: 44
  • Cell Name: progenitor cell (CL0011026)
    Fold Change: 0.11
    Marker Score: 712
  • Cell Name: mesothelial cell of epicardium (CL0011019)
    Fold Change: 0.11
    Marker Score: 35
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.1
    Marker Score: 33
  • Cell Name: endocardial cell (CL0002350)
    Fold Change: 0.1
    Marker Score: 58
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.1
    Marker Score: 53
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 0.1
    Marker Score: 265.5
  • Cell Name: vascular associated smooth muscle cell (CL0000359)
    Fold Change: 0.09
    Marker Score: 43
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 0.09
    Marker Score: 27
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: 0.09
    Marker Score: 51
  • Cell Name: innate lymphoid cell (CL0001065)
    Fold Change: 0.09
    Marker Score: 33
  • Cell Name: Unknown (CL0000003)
    Fold Change: 0.09
    Marker Score: 274
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: 0.09
    Marker Score: 358
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 0.08
    Marker Score: 48
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: 0.08
    Marker Score: 149
  • Cell Name: stromal cell (CL0000499)
    Fold Change: 0.08
    Marker Score: 95.5
  • Cell Name: smooth muscle cell (CL0000192)
    Fold Change: 0.08
    Marker Score: 53
  • Cell Name: cardiac neuron (CL0010022)
    Fold Change: 0.08
    Marker Score: 100
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 0.08
    Marker Score: 38
  • Cell Name: mesothelial cell (CL0000077)
    Fold Change: 0.08
    Marker Score: 31
  • Cell Name: neural cell (CL0002319)
    Fold Change: 0.07
    Marker Score: 36
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 0.07
    Marker Score: 75
  • Cell Name: IgA plasmablast (CL0000984)
    Fold Change: 0.07
    Marker Score: 19
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.06
    Marker Score: 20
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.06
    Marker Score: 16
  • Cell Name: adipocyte of epicardial fat of left ventricle (CL1000311)
    Fold Change: 0.06
    Marker Score: 16
  • Cell Name: mammary gland epithelial cell (CL0002327)
    Fold Change: 0.05
    Marker Score: 19
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: 0.05
    Marker Score: 18
  • Cell Name: leukocyte (CL0000738)
    Fold Change: 0.05
    Marker Score: 27
  • Cell Name: germ cell (CL0000586)
    Fold Change: 0.05
    Marker Score: 82
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 0.04
    Marker Score: 33
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 0.04
    Marker Score: 15
  • Cell Name: mature NK T cell (CL0000814)
    Fold Change: 0.04
    Marker Score: 19
  • Cell Name: myofibroblast cell (CL0000186)
    Fold Change: 0.04
    Marker Score: 45
  • Cell Name: enteric neuron (CL0007011)
    Fold Change: 0.04
    Marker Score: 19
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.04
    Marker Score: 11
  • Cell Name: vein endothelial cell (CL0002543)
    Fold Change: 0.03
    Marker Score: 30
  • Cell Name: podocyte (CL0000653)
    Fold Change: 0.03
    Marker Score: 12
  • Cell Name: enteroendocrine cell (CL0000164)
    Fold Change: 0.03
    Marker Score: 16.5
  • Cell Name: ciliated epithelial cell (CL0000067)
    Fold Change: 0.03
    Marker Score: 14
  • Cell Name: fat cell (CL0000136)
    Fold Change: 0.03
    Marker Score: 17
  • Cell Name: macrophage (CL0000235)
    Fold Change: 0.03
    Marker Score: 33
  • Cell Name: neutrophil (CL0000775)
    Fold Change: 0.03
    Marker Score: 18
  • Cell Name: CD4-positive, alpha-beta memory T cell (CL0000897)
    Fold Change: 0.03
    Marker Score: 17
  • Cell Name: erythroblast (CL0000765)
    Fold Change: 0.03
    Marker Score: 17
  • Cell Name: radial glial cell (CL0000681)
    Fold Change: 0.03
    Marker Score: 10
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 0.03
    Marker Score: 34
  • Cell Name: gamma-delta T cell (CL0000798)
    Fold Change: 0.03
    Marker Score: 18
  • Cell Name: naive T cell (CL0000898)
    Fold Change: 0.03
    Marker Score: 17

Hover over a box to see details here...

Hover over a box to see details here...

Hover over a box to see details here...

Other Information

## Summary NKX2.5 is a transcription factor that plays a crucial role in the development and maintenance of the cardiovascular system. It is involved in cardiac conduction, cardiomygenesis, and the regulation of cardiac development. ## Key characteristics * NKX2.5 is a basic helix-loop transcription factor that is highly expressed in the heart and cardiac-related tissues. * It is a key regulator of cardiac development, with mutations in the NKX2.5 gene leading to various cardiovascular defects. * NKX2.5 is a member of the NKX family of transcription factors, which are characterized by their ability to bind to DNA and regulate gene expression. * It is a key regulator of cardiac conduction, as it is required for the proper formation of the heart tube and the development of functional cardiac tissues. * NKX2.5 is also involved in the regulation of cardiomygenesis, the process of heart muscle development. * It is a key regulator of cardiac development, as it is required for the proper formation of the heart tube and the development of functional cardiac tissues. ## Pathways and functions * NKX2.5 is involved in multiple signaling pathways that contribute to cardiac development. These pathways include the cardiac conduction pathway, the cardiogenesis pathway, and the developmental biology pathway. * In the cardiac conduction pathway, NKX2.5 is required for the proper formation of the heart tube and the development of functional cardiac tissues. * In the cardiogenesis pathway, NKX2.5 is involved in the specification of cardiac fate and the differentiation of cardiac progenitor cells into functional cardiac cells. * In the developmental biology pathway, NKX2.5 is involved in the regulation of cardiac development and the formation of the heart tube. ## Clinical significance Mutations in the NKX2.5 gene have been linked to a variety of cardiovascular diseases, including congenital heart defects, arrhythmias, and cardiomyopathy. These mutations can lead to the development of heart failure, stroke, and other cardiovascular complications. NKX2.5 is a promising target for the treatment of cardiovascular diseases. Several drugs that target NKX2.5 have been tested in clinical trials, and some of these drugs have been shown to be effective in improving heart function in animal models of cardiovascular disease.

Genular Protein ID: 3056487985

Symbol: NKX25_HUMAN

Name: Homeobox protein Nkx-2.5

UniProtKB Accession Codes:

P52952 A8K3K0 B4DNB6 E9PBU6

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 3 CDD 1 CTD 1 ComplexPortal 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 8 Ensembl 3 ExpressionAtlas 1 GO 86 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 13 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 12 OrthoDB 1 PANTHER 2 PDB 5 PDBsum 4 PRINTS 1 PRO 1 PROSITE 2 PROSITE-ProRule 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 Pumba 1 RNAct 1 Reactome 3 RefSeq 3 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

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: 1102155577

Symbol: A0A0S2Z3K2_HUMAN

Name: N/A

UniProtKB Accession Codes:

A0A0S2Z3K2

Database IDs:

AlphaFoldDB 1 Antibodypedia 1 BioGRID-ORCS 1 CTD 1 DNASU 1 EMBL 2 ExpressionAtlas 1 GenomeRNAi 1 NCBI Taxonomy 1 OrthoDB 1 RefSeq 1 VEuPathDB 1

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

Genular Protein ID: 411150691

Symbol: E5RH49_HUMAN

Name: N/A

UniProtKB Accession Codes:

E5RH49

Database IDs:

AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 CTD 1 DNASU 1 EMBL 1 Ensembl 2 ExpressionAtlas 1 GeneTree 1 GenomeRNAi 1 HGNC 1 MassIVE 1 NCBI Taxonomy 1 OrthoDB 1 PeptideAtlas 2 Proteomes 2 ProteomicsDB 2 RefSeq 1 UCSC 1 VEuPathDB 1

Citations:

PubMed ID: 15372022

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

PubMed ID: 15372022

DOI: 10.1038/nature02919

Sequence Information:

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

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. For the full schema, download it here.