Version 5.4
Homo sapiens Protein: NKX2-6
Summary
InnateDB Protein IDBP-12204.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol NKX2-6
Protein Name NK2 homeobox 6
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000320089
InnateDB Gene IDBG-12202 (NKX2-6)
Protein Structure
UniProt Annotation
Function In conjunction with NKX2-5, may play a role in both pharyngeal and cardiac embryonic development. {ECO:0000250}.
Subcellular Localization Nucleus {ECO:0000305}.
Disease Associations Conotruncal heart malformations (CTHM) [MIM:217095]: 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. {ECO:0000269PubMed:15649947}. Note=The disease may be caused by mutations affecting the gene represented in this entry.
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
Gene Ontology

Molecular Function
Accession GO Term
GO:0003677 DNA binding
GO:0003700 sequence-specific DNA binding transcription factor activity
GO:0043565 sequence-specific DNA binding
Biological Process
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0007507 heart development
GO:0008284 positive regulation of cell 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: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
Cellular Component
GO:0005634 nucleus
Protein Structure and Domains
PDB ID
InterPro IPR001356 Homeobox domain
IPR009057 Homeodomain-like
IPR020479 Homeodomain, metazoa
PFAM PF00046
PRINTS PR00024
PIRSF
SMART SM00389
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt A6NCS4
PhosphoSite PhosphoSite-
TrEMBL C9JML6
UniProt Splice Variant
Entrez Gene 137814
UniGene Hs.532654
RefSeq NP_001129743
HUGO HGNC:32940
OMIM 611770
CCDS
HPRD
IMGT
EMBL AC012574 CN272646
GenPept

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca