• Gene id: 1482

Gene Summary

• Gene Symbol: NKX2-5   Gene   UCSC   Ensembl
• Aliases: CHNG5, CSX, CSX1, HLHS2, NKX2.5, NKX2E, NKX4-1, VSD3
• Gene name: NK2 homeobox 5
• Alternate names: homeobox protein Nkx-2.5, NK2 transcription factor related, locus 5, NKX 2-5, cardiac-specific homeobox 1, homeobox protein CSX, homeobox protein NK-2 homolog E, homeobox protein NKX 2-5, tinman paralog,
• Gene location: 5q35.1 (173235320: 173232108)     Exons: 3     NC_000005.10
• Gene summary(Entrez): This gene encodes a homeobox-containing transcription factor. This transcription factor functions in heart formation and development. Mutations in this gene cause atrial septal defect with atrioventricular conduction defect, and also tetralogy of Fallot,
• OMIM: 612655

Protein Summary

• Protein general information: P52952  
  • Name: Homeobox protein Nkx 2.5 (Cardiac specific homeobox) (Homeobox protein CSX) (Homeobox protein NK 2 homolog E)
  • Length: 324  
  • Mass: 34918
  • Tissue specificity: Expressed only in the heart.
• Sequence:

  MFPSPALTPTPFSVKDILNLEQQQRSLAAAGELSARLEATLAPSSCMLAAFKPEAYAGPEAAAPGLPELRAELGR
  APSPAKCASAFPAAPAFYPRAYSDPDPAKDPRAEKKELCALQKAVELEKTEADNAERPRARRRRKPRVLFSQAQV
  YELERRFKQQRYLSAPERDQLASVLKLTSTQVKIWFQNRRYKCKRQRQDQTLELVGLPPPPPPPARRIAVPVLVR
  DGKPCLGDSAPYAPAYGVGLNPYGYNAYPAYPGYGGAACSPGYSCTAAYPAGPSPAQPATAAANNNFVNFGVGDL
  NAVQSPGIPQSNSGVSTLHGIRAW

• Structural information:
  • Interpro: IPR009057  IPR017970  IPR001356  IPR020479  IPR033629  
  • Prosite: PS00027 PS50071
  • CDD: cd00086
  • PDB: 3RKQ 4S0H
  • PDBsum: 3RKQ 4S0H
  • STRING: ENSP00000327758
• Other Databases: GeneCards:  NKX2-5  Malacards:  NKX2-5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0045944	positive regulation of transcription by RNA polymerase II	IMP	biological process
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IMP	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IMP	molecular function
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0003700	DNA-binding transcription factor activity	IBA	molecular function
GO:0030154	cell differentiation	IBA	biological process
GO:0043565	sequence-specific DNA binding	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0032991	protein-containing complex	IDA	cellular component
GO:0032993	protein-DNA complex	IDA	cellular component
GO:0048536	spleen development	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0006357	regulation of transcription by RNA polymerase II	IEA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:1903779	regulation of cardiac conduction	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0007507	heart development	IEA	biological process
GO:0060048	cardiac muscle contraction	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0003682	chromatin binding	IDA	molecular function
GO:0003161	cardiac conduction system development	IMP	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IGI	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IGI	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1903779	regulation of cardiac conduction	IEA	biological process
GO:0060043	regulation of cardiac muscle cell proliferation	IEA	biological process
GO:0055117	regulation of cardiac muscle contraction	IEA	biological process
GO:0055005	ventricular cardiac myofibril assembly	IEA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0042803	protein homodimerization activity	IEA	molecular function
GO:0035050	embryonic heart tube development	IEA	biological process
GO:0030878	thyroid gland development	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0010765	positive regulation of sodium ion transport	IEA	biological process
GO:0010667	negative regulation of cardiac muscle cell apoptotic process	IEA	biological process
GO:0010628	positive regulation of gene expression	IEA	biological process
GO:0008284	positive regulation of cell population proliferation	IEA	biological process
GO:0006357	regulation of transcription by RNA polymerase II	IEA	biological process
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0003682	chromatin binding	IEA	molecular function
GO:0003350	pulmonary myocardium development	IEA	biological process
GO:0003342	proepicardium development	IEA	biological process
GO:0003222	ventricular trabecula myocardium morphogenesis	IEA	biological process
GO:0003208	cardiac ventricle morphogenesis	IEA	biological process
GO:0003161	cardiac conduction system development	IEA	biological process
GO:0001947	heart looping	IEA	biological process
GO:0001570	vasculogenesis	IEA	biological process
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0090090	negative regulation of canonical Wnt signaling pathway	IEA	biological process
GO:0072358	cardiovascular system development	IEA	biological process
GO:0060971	embryonic heart tube left/right pattern formation	IEA	biological process
GO:0060929	atrioventricular node cell fate commitment	IEA	biological process
GO:0060928	atrioventricular node cell development	IEA	biological process
GO:0060347	heart trabecula formation	IEA	biological process
GO:0060261	positive regulation of transcription initiation from RNA polymerase II promoter	IEA	biological process
GO:0060048	cardiac muscle contraction	IEA	biological process
GO:0060047	heart contraction	IEA	biological process
GO:0060038	cardiac muscle cell proliferation	IEA	biological process
GO:0060037	pharyngeal system development	IEA	biological process
GO:0055007	cardiac muscle cell differentiation	IEA	biological process
GO:0051891	positive regulation of cardioblast differentiation	IEA	biological process
GO:0048738	cardiac muscle tissue development	IEA	biological process
GO:0048536	spleen development	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0045823	positive regulation of heart contraction	IEA	biological process
GO:0045214	sarcomere organization	IEA	biological process
GO:0030097	hemopoiesis	IEA	biological process
GO:0010735	positive regulation of transcription via serum response element binding	IEA	biological process
GO:0007512	adult heart development	IEA	biological process
GO:0007507	heart development	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005667	transcription regulator complex	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0003278	apoptotic process involved in heart morphogenesis	IEA	biological process
GO:0003211	cardiac ventricle formation	IEA	biological process
GO:0003168	Purkinje myocyte differentiation	IEA	biological process
GO:0003166	bundle of His development	IEA	biological process
GO:0003162	atrioventricular node development	IEA	biological process
GO:0003151	outflow tract morphogenesis	IEA	biological process
GO:0003007	heart morphogenesis	IEA	biological process
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0090575	RNA polymerase II transcription regulator complex	IDA	cellular component
GO:0003700	DNA-binding transcription factor activity	IDA	molecular function
GO:0003700	DNA-binding transcription factor activity	IDA	molecular function
GO:0003700	DNA-binding transcription factor activity	IDA	contributes to
GO:0043565	sequence-specific DNA binding	IDA	molecular function
GO:0000976	transcription regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0003700	DNA-binding transcription factor activity	IMP	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	ISS	molecular function
GO:0003677	DNA binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0008134	transcription factor binding	IPI	molecular function
GO:0008134	transcription factor binding	IPI	molecular function
GO:0001570	vasculogenesis	ISS	biological process
GO:0001947	heart looping	ISS	biological process
GO:0003148	outflow tract septum morphogenesis	IMP	biological process
GO:0003221	right ventricular cardiac muscle tissue morphogenesis	IMP	biological process
GO:0008284	positive regulation of cell population proliferation	ISS	biological process
GO:0010667	negative regulation of cardiac muscle cell apoptotic process	IMP	biological process
GO:0010765	positive regulation of sodium ion transport	ISS	biological process
GO:0010832	negative regulation of myotube differentiation	IMP	biological process
GO:0030154	cell differentiation	ISS	biological process
GO:0030878	thyroid gland development	IMP	biological process
GO:0035050	embryonic heart tube development	ISS	biological process
GO:0043066	negative regulation of apoptotic process	ISS	biological process
GO:0045666	positive regulation of neuron differentiation	IMP	biological process
GO:0045892	negative regulation of transcription, DNA-templated	ISS	biological process
GO:0045893	positive regulation of transcription, DNA-templated	ISS	biological process
GO:0055008	cardiac muscle tissue morphogenesis	IMP	biological process
GO:0055015	ventricular cardiac muscle cell development	ISS	biological process
GO:0055117	regulation of cardiac muscle contraction	ISS	biological process
GO:0060413	atrial septum morphogenesis	IMP	biological process
GO:0060413	atrial septum morphogenesis	IMP	biological process
GO:1903779	regulation of cardiac conduction	ISS	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005667	transcription regulator complex	IC	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0003161	cardiac conduction system development	IMP	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	ISS	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IMP	biological process
GO:0003007	heart morphogenesis	ISS	biological process
GO:0003285	septum secundum development	IMP	biological process
GO:0007512	adult heart development	IMP	biological process
GO:0010735	positive regulation of transcription via serum response element binding	ISS	biological process
GO:0030097	hemopoiesis	ISS	biological process
GO:0045823	positive regulation of heart contraction	ISS	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	ISS	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IMP	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IMP	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IMP	biological process
GO:0048536	spleen development	ISS	biological process
GO:0051891	positive regulation of cardioblast differentiation	ISS	biological process
GO:0055007	cardiac muscle cell differentiation	ISS	biological process
GO:0055014	atrial cardiac muscle cell development	ISS	biological process
GO:0060037	pharyngeal system development	ISS	biological process
GO:0060261	positive regulation of transcription initiation from RNA polymerase II promoter	ISS	biological process
GO:0060412	ventricular septum morphogenesis	IMP	biological process
GO:0060412	ventricular septum morphogenesis	IMP	biological process
GO:0090090	negative regulation of canonical Wnt signaling pathway	ISS	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0003700	DNA-binding transcription factor activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Atrial septal defect	KEGG:H00546
Congenital nongoitrous hypothyroidism	KEGG:H00250
Tetralogy of Fallot	KEGG:H00549
Ventricular septal defect	KEGG:H01926
Hypoplastic left heart syndrome	KEGG:H01272
Atrial septal defect	KEGG:H00546
Congenital nongoitrous hypothyroidism	KEGG:H00250
Tetralogy of Fallot	KEGG:H00549
Ventricular septal defect	KEGG:H01926
Hypoplastic left heart syndrome	KEGG:H01272
Aortic valve disease 2	PMID:25438918
Aortic valve disease 2	PMID:22179962
Ventricular septal defect	PMID:21165553
Heart septal defect	PMID:12112663
Congenital heart disease	PMID:17891520
Atrial heart septal defect	PMID:21188375
Tetralogy of Fallot	PMID:11714651
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881