Details for: NKX2 5

Gene ID: 1482

Symbol: NKX2 5

Ensembl ID: ENSG00000183072

Description: NK2 homeobox 5

Associated with

Other Information

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: 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

Genular Protein ID: 411150691

Symbol: E5RH49_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

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. 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.