Entity Details

Primary name NKX25_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP52952
EntryNameNKX25_HUMAN
FullNameHomeobox protein Nkx-2.5
TaxID9606
Evidenceevidence at protein level
Length324
SequenceStatuscomplete
DateCreated1996-10-01
DateModified2021-06-02

Ontological Relatives

GenesNKX2-5

GO terms

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GOName
GO:0000122 negative regulation of transcription by RNA polymerase II
GO:0000785 chromatin
GO:0000976 transcription cis-regulatory region binding
GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific
GO:0001216 DNA-binding transcription activator activity
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific
GO:0001570 vasculogenesis
GO:0001947 heart looping
GO:0003007 heart morphogenesis
GO:0003148 outflow tract septum morphogenesis
GO:0003161 cardiac conduction system development
GO:0003180 aortic valve morphogenesis
GO:0003221 right ventricular cardiac muscle tissue morphogenesis
GO:0003228 atrial cardiac muscle tissue development
GO:0003285 septum secundum development
GO:0003677 DNA binding
GO:0003682 chromatin binding
GO:0003700 DNA-binding transcription factor activity
GO:0005634 nucleus
GO:0005667 transcription regulator complex
GO:0006357 regulation of transcription by RNA polymerase II
GO:0007512 adult heart development
GO:0008134 transcription factor binding
GO:0008284 positive regulation of cell population proliferation
GO:0010667 negative regulation of cardiac muscle cell apoptotic process
GO:0010735 positive regulation of transcription via serum response element binding
GO:0010765 positive regulation of sodium ion transport
GO:0010832 negative regulation of myotube differentiation
GO:0030097 hemopoiesis
GO:0030154 cell differentiation
GO:0030878 thyroid gland development
GO:0032991 protein-containing complex
GO:0032993 protein-DNA complex
GO:0035050 embryonic heart tube development
GO:0043066 negative regulation of apoptotic process
GO:0043565 sequence-specific DNA binding
GO:0045666 positive regulation of neuron differentiation
GO:0045823 positive regulation of heart contraction
GO:0045892 negative regulation of transcription, DNA-templated
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription by RNA polymerase II
GO:0048536 spleen development
GO:0051891 positive regulation of cardioblast differentiation
GO:0055007 cardiac muscle cell differentiation
GO:0055008 cardiac muscle tissue morphogenesis
GO:0055013 cardiac muscle cell development
GO:0055014 atrial cardiac muscle cell development
GO:0055015 ventricular cardiac muscle cell development
GO:0055117 regulation of cardiac muscle contraction
GO:0060037 pharyngeal system development
GO:0060048 cardiac muscle contraction
GO:0060261 positive regulation of transcription initiation from RNA polymerase II promoter
GO:0060412 ventricular septum morphogenesis
GO:0060413 atrial septum morphogenesis
GO:0090090 negative regulation of canonical Wnt signaling pathway
GO:0090575 RNA polymerase II transcription regulator complex
GO:1903779 regulation of cardiac conduction
GO:1990837 sequence-specific double-stranded DNA binding

Subcellular Location

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Subcellular Location
Nucleus

Domains

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DomainNameCategoryType
IPR001356 Homeobox domainDomainDomain
IPR009057 Homeobox-like domain superfamilyFamilyHomologous superfamily
IPR017970 Homeobox, conserved siteSiteConserved site
IPR020479 Homeobox domain, metazoaDomainDomain
IPR033629 Homeobox protein NKX-2.5FamilyFamily

Diseases

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Disease IDSourceNameDescription
108900 OMIMAtrial septal defect 7, with or without atrioventricular conduction defects (ASD7)A congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria, and atrioventricular conduction defects in some cases. The disease is caused by variants affecting the gene represented in this entry.
187500 OMIMTetralogy of Fallot (TOF)A congenital heart anomaly which consists of pulmonary stenosis, ventricular septal defect, dextroposition of the aorta (aorta is on the right side instead of the left) and hypertrophy of the right ventricle. In this condition, blood from both ventricles (oxygen-rich and oxygen-poor) is pumped into the body often causing cyanosis. The disease is caused by variants affecting the gene represented in this entry.
225250 OMIMHypothyroidism, congenital, non-goitrous, 5 (CHNG5)A non-autoimmune condition characterized by resistance to thyroid-stimulating hormone (TSH) leading to increased levels of plasma TSH and low levels of thyroid hormone. CHNG5 presents variable severity depending on the completeness of the defect. Most patients are euthyroid and asymptomatic, with a normal sized thyroid gland. Only a subset of patients develop hypothyroidism and present a hypoplastic thyroid gland. The disease is caused by variants affecting the gene represented in this entry.
614432 OMIMVentricular septal defect 3 (VSD3)A common form of congenital cardiovascular anomaly that may occur alone or in combination with other cardiac malformations. It can affect any portion of the ventricular septum, resulting in abnormal communications between the two lower chambers of the heart. Classification is based on location of the communication, such as perimembranous, inlet, outlet (infundibular), central muscular, marginal muscular, or apical muscular defect. Large defects that go unrepaired may give rise to cardiac enlargement, congestive heart failure, pulmonary hypertension, Eisenmenger's syndrome, delayed fetal brain development, arrhythmias, and even sudden cardiac death. The disease is caused by variants affecting the gene represented in this entry.
217095 OMIMConotruncal heart malformations (CTHM)A group of congenital heart defects involving the outflow tracts. Examples include truncus arteriosus communis, double-outlet right ventricle and transposition of great arteries. Truncus arteriosus communis is characterized by a single outflow tract instead of a separate aorta and pulmonary artery. In transposition of the great arteries, the aorta arises from the right ventricle and the pulmonary artery from the left ventricle. In double outlet of the right ventricle, both the pulmonary artery and aorta arise from the right ventricle. The disease is caused by variants affecting the gene represented in this entry.
614435 OMIMHypoplastic left heart syndrome 2 (HLHS2)A syndrome due to defective development of the aorta proximal to the entrance of the ductus arteriosus, and hypoplasia of the left ventricle and mitral valve. As a result of the abnormal circulation, the ductus arteriosus and foramen ovale are patent and the right atrium, right ventricle, and pulmonary artery are enlarged. The disease is caused by variants affecting the gene represented in this entry.