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| # | Reference Title | Reference Citation |
| 1. | NKX2-5 mutations in an inbred consanguineous population: genetic and phenotypic diversity. | Abou Hassan OK, etal., Sci Rep. 2015 Mar 6;5:8848. doi: 10.1038/srep08848. |
| 2. | A mouse model of human congenital heart disease: high incidence of diverse cardiac anomalies and ventricular noncompaction produced by heterozygous Nkx2-5 homeodomain missense mutation. | Ashraf H, etal., Circ Cardiovasc Genet. 2014 Aug;7(4):423-33. doi: 10.1161/CIRCGENETICS.113.000281. Epub 2014 Jul 15. |
| 3. | Cardiac septal and valvular dysmorphogenesis in mice heterozygous for mutations in the homeobox gene Nkx2-5. | Biben C, etal., Circ Res. 2000 Nov 10;87(10):888-95. |
| 4. | Histone deacetylases facilitate sodium/calcium exchanger up-regulation in adult cardiomyocytes. | Chandrasekaran S, etal., FASEB J. 2009 Nov;23(11):3851-64. doi: 10.1096/fj.09-132415. Epub 2009 Jul 28. |
| 5. | The different cardiac expression of the type 2 iodothyronine deiodinase gene between human and rat is related to the differential response of the Dio2 genes to Nkx-2.5 and GATA-4 transcription factors. | Dentice M, etal., Mol Endocrinol. 2003 Aug;17(8):1508-21. Epub 2003 May 29. |
| 6. | Familial Atrial Septal Defect and Sudden Cardiac Death: Identification of a Novel NKX2-5 Mutation and a Review of the Literature. | Ellesøe SG, etal., Congenit Heart Dis. 2016 May;11(3):283-90. doi: 10.1111/chd.12317. Epub 2015 Dec 18. |
| 7. | Endothelin-converting enzyme-1 (ECE-1) is a downstream target of the homeobox transcription factor Nkx2-5. | Funke-Kaiser H, etal., FASEB J 2003 Aug;17(11):1487-9. |
| 8. | Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
| 9. | NKX2.5 mutations in patients with tetralogy of fallot. | Goldmuntz E, etal., Circulation. 2001 Nov 20;104(21):2565-8. |
| 10. | A novel CSX/NKX2-5 mutation causes autosomal-dominant AV block: are atrial fibrillation and syncopes part of the phenotype? | Gutierrez-Roelens I, etal., Eur J Hum Genet. 2006 Dec;14(12):1313-6. Epub 2006 Aug 9. |
| 11. | Progressive AV-block and anomalous venous return among cardiac anomalies associated with two novel missense mutations in the CSX/NKX2-5 gene. | Gutierrez-Roelens I, etal., Hum Mutat. 2002 Jul;20(1):75-6. |
| 12. | Nkx2.5/Csx represses myofibroblast differentiation. | Hu B, etal., Am J Respir Cell Mol Biol. 2010 Feb;42(2):218-26. Epub 2009 Apr 24. |
| 13. | Functional dissection of sequence-specific NKX2-5 DNA binding domain mutations associated with human heart septation defects using a yeast-based system. | Inga A, etal., Hum Mol Genet. 2005 Jul 15;14(14):1965-75. Epub 2005 May 25. |
| 14. | Characterization of homo- and heterodimerization of cardiac Csx/Nkx2.5 homeoprotein. | Kasahara H, etal., J Biol Chem. 2001 Feb 16;276(7):4570-80. Epub 2000 Oct 20. |
| 15. | Progressive atrioventricular conduction defects and heart failure in mice expressing a mutant Csx/Nkx2.5 homeoprotein. | Kasahara H, etal., J Clin Invest. 2001 Jul;108(2):189-201. |
| 16. | Carboxyl terminus of Nkx2.5 impairs its interaction with p300. | Li T, etal., J Mol Biol. 2007 Jul 27;370(5):976-92. Epub 2007 May 18. |
| 17. | Novel NKX2-5 mutations in patients with familial atrial septal defects. | Liu XY, etal., Pediatr Cardiol. 2011 Feb;32(2):193-201. doi: 10.1007/s00246-010-9859-6. Epub 2010 Dec 25. |
| 18. | Cardiomyocyte differentiation of rat bone marrow multipotent progenitor cells is associated with downregulation of Oct-4 expression. | Lu T, etal., Tissue Eng Part A. 2010 Oct;16(10):3111-7. |
| 19. | 17 beta-estradiol modulates expression of low-voltage-activated Ca(V)3.2 T-type calcium channel via extracellularly regulated kinase pathway in cardiomyocytes. | Marni F, etal., Endocrinology. 2009 Feb;150(2):879-88. Epub 2008 Oct 1. |
| 20. | Rat ISS GO annotations from MGI mouse gene data--August 2006 | MGD data from the GO Consortium |
| 21. | Electronic Transfer of LocusLink and RefSeq Data | NCBI rat LocusLink and RefSeq merged data July 26, 2002 |
| 22. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
| 23. | A novel stop mutation truncating critical regions of the cardiac transcription factor NKX2-5 in a large family with autosomal-dominant inherited congenital heart disease. | Pabst S, etal., Clin Res Cardiol. 2008 Jan;97(1):39-42. Epub 2007 Sep 25. |
| 24. | Ventricular noncompaction and distal chromosome 5q deletion. | Pauli RM, etal., Am J Med Genet 1999 Aug 6;85(4):419-23. |
| 25. | Novel and highly lethal NKX2.5 missense mutation in a family with sudden death and ventricular arrhythmia. | Perera JL, etal., Pediatr Cardiol. 2014 Oct;35(7):1206-12. doi: 10.1007/s00246-014-0917-3. Epub 2014 Jun 1. |
| 26. | A novel NKX2.5 loss-of-function mutation associated with congenital bicuspid aortic valve. | Qu XK, etal., Am J Cardiol. 2014 Dec 15;114(12):1891-5. doi: 10.1016/j.amjcard.2014.09.028. Epub 2014 Sep 28. |
| 27. | Somatic NKX2-5 mutations as a novel mechanism of disease in complex congenital heart disease. | Reamon-Buettner SM and Borlak J, J Med Genet. 2004 Sep;41(9):684-90. |
| 28. | GOA pipeline | RGD automated data pipeline |
| 29. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 30. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 31. | Epistatic rescue of Nkx2.5 adult cardiac conduction disease phenotypes by prospero-related homeobox protein 1 and HDAC3. | Risebro CA, etal., Circ Res. 2012 Jul 6;111(2):e19-31. doi: 10.1161/CIRCRESAHA.111.260695. Epub 2012 May 29. |
| 32. | Congenital heart disease caused by mutations in the transcription factor NKX2-5. | Schott JJ, etal., Science. 1998 Jul 3;281(5373):108-11. |
| 33. | The ambiguous role of NKX2-5 mutations in thyroid dysgenesis. | van Engelen K, etal., PLoS One. 2012;7(12):e52685. doi: 10.1371/journal.pone.0052685. Epub 2012 Dec 28. |
| 34. | Novel NKX2-5 mutations responsible for congenital heart disease. | Wang J, etal., Genet Mol Res. 2011 Nov 29;10(4):2905-15. doi: 10.4238/2011.November.29.1. |
| 35. | A novel NKX2-5 mutation in familial ventricular septal defect. | Wang J, etal., Int J Mol Med. 2011 Mar;27(3):369-75. doi: 10.3892/ijmm.2010.585. Epub 2010 Dec 16. |
| 36. | SIRT1 mediates the protective function of Nkx2.5 during stress in cardiomyocytes. | Zheng W, etal., Basic Res Cardiol. 2013 Jul;108(4):364. doi: 10.1007/s00395-013-0364-y. Epub 2013 Jun 7. |
| 37. | Functional analyses of three Csx/Nkx-2.5 mutations that cause human congenital heart disease. | Zhu W, etal., J Biol Chem. 2000 Nov 10;275(45):35291-6. |
| PMID:7628699 | PMID:8887666 | PMID:8900044 | PMID:9192865 | PMID:9312027 | PMID:9857019 | PMID:9858576 | PMID:10021345 | PMID:10206974 | PMID:10587520 | PMID:11390666 | PMID:11431700 |
| PMID:11572777 | PMID:11784028 | PMID:11889119 | PMID:12023302 | PMID:12297045 | PMID:12392994 | PMID:12754203 | PMID:14550786 | PMID:14645532 | PMID:14978031 | PMID:15085192 | PMID:15109497 |
| PMID:15363409 | PMID:15649947 | PMID:15653675 | PMID:15843414 | PMID:16380715 | PMID:16418214 | PMID:16510504 | PMID:16556915 | PMID:16678093 | PMID:17234970 | PMID:17250822 | PMID:17350578 |
| PMID:17360443 | PMID:17498735 | PMID:17604724 | PMID:17823370 | PMID:18079734 | PMID:18285513 | PMID:18689573 | PMID:18722343 | PMID:19035347 | PMID:19253817 | PMID:19479054 | PMID:19483677 |
| PMID:19546853 | PMID:19578358 | PMID:20457810 | PMID:20713518 | PMID:20807224 | PMID:21379568 | PMID:21690310 | PMID:21931855 | PMID:22527936 | PMID:22560297 | PMID:22849347 | PMID:23892084 |
| PMID:24866243 | PMID:26926761 | PMID:27207958 | PMID:27747432 | PMID:31104268 | PMID:32780729 | PMID:33035436 |
| Nkx2-5 (Rattus norvegicus - Norway rat) |
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| NKX2-5 (Homo sapiens - human) |
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| Nkx2-5 (Mus musculus - house mouse) |
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| Nkx2-5 (Chinchilla lanigera - long-tailed chinchilla) |
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| NKX2-5 (Pan paniscus - bonobo/pygmy chimpanzee) |
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| NKX2-5 (Canis lupus familiaris - dog) |
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| Nkx2-5 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| NKX2-5 (Sus scrofa - pig) |
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| NKX2-5 (Chlorocebus sabaeus - green monkey) |
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| Nkx2-5 (Heterocephalus glaber - naked mole-rat) |
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| Nkx2-5 (Rattus rattus - black rat) |
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.
Variants in Nkx2-5
21 total Variants
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| The detailed report is available here: | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer |
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
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| The following QTLs overlap with this region. | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer | ![]() | Gviewer |
| Nkx2-5 |
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| RH133759 |
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| UniSTS:463422 |
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| UniSTS:472868 |
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| Nkx2-5 |
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| Nkx2-5 |
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appendage
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circulatory system
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ectoderm
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endocrine system
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endoderm
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exocrine system
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hemolymphoid system
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hepatobiliary system
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mesenchyme
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mesoderm
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musculoskeletal system
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nervous system
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renal system
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reproductive system
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respiratory system
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|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | 61 | 14 | 26 | 33 | 12 | 24 | 12 | 109 | 90 | 2 | 9 | 6 | 38 | 21 |
| RefSeq Transcripts | NM_053651 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| XM_039085022 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| GenBank Nucleotide | AC119699 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| AF006664 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CH473948 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| JAXUCZ010000010 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| Ensembl Acc Id: | ENSRNOT00000028155 ⟹ ENSRNOP00000028155 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
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| RefSeq Acc Id: | NM_053651 ⟹ NP_446103 | ||||||||||||||||||||||||||||
| RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||||||
| Position: |
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| Sequence: |
| RefSeq Acc Id: | XM_039085022 ⟹ XP_038940950 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
|
| Protein RefSeqs | NP_446103 | (Get FASTA) | NCBI Sequence Viewer |
| XP_038940950 | (Get FASTA) | NCBI Sequence Viewer | |
| GenBank Protein | AAB62696 | (Get FASTA) | NCBI Sequence Viewer |
| EDM04040 | (Get FASTA) | NCBI Sequence Viewer | |
| Ensembl Protein | ENSRNOP00000028155 | ||
| GenBank Protein | O35767 | (Get FASTA) | NCBI Sequence Viewer |
| RefSeq Acc Id: | NP_446103 ⟸ NM_053651 |
| - UniProtKB: | O35767 (UniProtKB/Swiss-Prot), G3V8T2 (UniProtKB/TrEMBL), A6HDD5 (UniProtKB/TrEMBL) |
| - Sequence: |
| Ensembl Acc Id: | ENSRNOP00000028155 ⟸ ENSRNOT00000028155 |
| RefSeq Acc Id: | XP_038940950 ⟸ XM_039085022 |
| - Peptide Label: | isoform X1 |
| - UniProtKB: | O35767 (UniProtKB/Swiss-Prot), G3V8T2 (UniProtKB/TrEMBL), A6HDD5 (UniProtKB/TrEMBL) |
| Name | Modeler | Protein Id | AA Range | Protein Structure |
| AF-O35767-F1-model_v2 | AlphaFold | O35767 | 1-318 | view protein structure |
| eQTL | View at Phenogen | |
| WGCNA | View at Phenogen | |
| Tissue/Strain Expression | View at Phenogen |
| Database | Acc Id | Source(s) |
| AGR Gene | RGD:620520 | AgrOrtholog |
| BioCyc Gene | G2FUF-25651 | BioCyc |
| Ensembl Genes | ENSRNOG00000020747 | Ensembl, ENTREZGENE |
| Ensembl Transcript | ENSRNOT00000028155 | ENTREZGENE |
| Gene3D-CATH | Homeodomain-like | UniProtKB/Swiss-Prot |
| InterPro | Homeobox-like_sf | UniProtKB/Swiss-Prot |
| Homeobox_CS | UniProtKB/Swiss-Prot | |
| Homeobox_dom | UniProtKB/Swiss-Prot | |
| Homeobox_metazoa | UniProtKB/Swiss-Prot | |
| Homeobox_NK-like | UniProtKB/Swiss-Prot | |
| KEGG Report | rno:114109 | UniProtKB/Swiss-Prot |
| NCBI Gene | 114109 | ENTREZGENE |
| PANTHER | HOMEOBOX PROTEIN NKX | UniProtKB/Swiss-Prot |
| PTHR24340:SF28 | UniProtKB/Swiss-Prot | |
| Pfam | Homeodomain | UniProtKB/Swiss-Prot |
| PhenoGen | Nkx2-5 | PhenoGen |
| PRINTS | HOMEOBOX | UniProtKB/Swiss-Prot |
| PROSITE | HOMEOBOX_1 | UniProtKB/Swiss-Prot |
| HOMEOBOX_2 | UniProtKB/Swiss-Prot | |
| RatGTEx | ENSRNOG00000020747 | RatGTEx |
| SMART | HOX | UniProtKB/Swiss-Prot |
| Superfamily-SCOP | SSF46689 | UniProtKB/Swiss-Prot |
| UniProt | A6HDD5 | ENTREZGENE, UniProtKB/TrEMBL |
| G3V8T2 | ENTREZGENE, UniProtKB/TrEMBL | |
| NKX25_RAT | UniProtKB/Swiss-Prot, ENTREZGENE |
| Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
|---|---|---|---|---|---|---|---|
| 2011-08-02 | Nkx2-5 | NK2 homeobox 5 | Nkx2-5 | NK2 transcription factor related, locus 5 (Drosophila) | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
| 2004-09-10 | Nkx2-5 | NK2 transcription factor related, locus 5 (Drosophila) | Csx | Symbol updated | 1299863 | APPROVED | |
| 2002-08-07 | Csx | NK2 transcription factor related, locus 5 (Drosophila) | Symbol and Name status set to provisional | 70820 | PROVISIONAL |
| Note Type | Note | Reference |
|---|---|---|
| gene_function | binds within the ECE-1c promoter to activate expression of Endothelin-converting enzyme-1 | 727751 |