Version 5.4
Homo sapiens Protein: HEATR2
Summary
InnateDB Protein IDBP-6177.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol HEATR2
Protein Name HEAT repeat containing 2
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000297440
InnateDB Gene IDBG-6173 (HEATR2)
Protein Structure
UniProt Annotation
Function
Subcellular Localization Cytoplasm {ECO:0000269PubMed:23040496}. Note=Observed only in the cytoplasm of ciliated airway epithelial cells. Absent from cilia.
Disease Associations Ciliary dyskinesia, primary, 18 (CILD18) [MIM:614874]: A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. {ECO:0000269PubMed:23040496}. Note=The disease is 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 26 experimentally validated interaction(s) in this database.
Experimentally validated
Total 26 [view]
Protein-Protein 26 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005488 binding
GO:0005515 protein binding
Biological Process
Cellular Component
GO:0005737 cytoplasm
Protein Structure and Domains
PDB ID
InterPro IPR000357 HEAT
IPR016024 Armadillo-type fold
IPR021133 HEAT, type 2
PFAM PF02985
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q86Y56
PhosphoSite PhosphoSite-Q86Y56
TrEMBL
UniProt Splice Variant
Entrez Gene 54919
UniGene Hs.596432
RefSeq NP_060272
HUGO HGNC:26013
OMIM 614864
CCDS CCDS34580
HPRD 07903
IMGT
EMBL AC144411 AK000404 AL832914 BC010850 BC047240
GenPept AAH10850 AAH47240 BAA91142 CAH10624

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