Entity Details

Primary name NKX2-6
Entity type gene
Source Source Link

Details

PrimaryID137814
RefseqGeneNG_030636
SymbolNKX2-6
NameNK2 homeobox 6
Chromosome8
Location8p21.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-12-01
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsNKX26_HUMAN

GO terms

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GOName
GO:0000785 chromatin
GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA 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:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific
GO:0003700 DNA-binding transcription factor activity
GO:0005634 nucleus
GO:0006357 regulation of transcription by RNA polymerase II
GO:0008284 positive regulation of cell population proliferation
GO:0021854 hypothalamus development
GO:0030154 cell differentiation
GO:0035050 embryonic heart tube development
GO:0043066 negative regulation of apoptotic process
GO:0043586 tongue development
GO:0045944 positive regulation of transcription by RNA polymerase II
GO:0048565 digestive tract development
GO:0055014 atrial cardiac muscle cell development
GO:0055015 ventricular cardiac muscle cell development
GO:0060037 pharyngeal system development
GO:0060039 pericardium development

Diseases

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Disease IDSourceNameDescription
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 may be caused by variants affecting the gene represented in this entry.

Interactions

1 interaction

InteractorPartnerSourcesPublicationsLink
NKX2-6RPS9BioGRID, IntAct30021884 details