Version 5.4
Homo sapiens Gene: DNAAF2
Summary
InnateDB Gene IDBG-5745.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol DNAAF2
Gene Name dynein, axonemal, assembly factor 2
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000165506
Encoded Proteins
IDBP-5747
dynein, axonemal, assembly factor 2
IDBP-294536
dynein, axonemal, assembly factor 2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a highly conserved protein involved in the preassembly of dynein arm complexes which power cilia. These complexes are found in some cilia and are assembled in the cytoplasm prior to transport for cilia formation. Mutations in this gene have been associated with primary ciliary dyskinesia. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]
Gene Information
Type Protein coding
Genomic Location Chromosome 14:49625174-49635230
Strand Reverse strand
Band q21.3
Transcripts
ENST00000298292 ENSP00000298292
ENST00000406043 ENSP00000384862
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
Experimentally validated
Total 3 [view]
Protein-Protein 3 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
Biological Process
GO:0010033 response to organic substance
GO:0032526 response to retinoic acid
GO:0060285 cilium-dependent cell motility
GO:0070286 axonemal dynein complex assembly
GO:0071973 bacterial-type flagellum-dependent cell motility
Cellular Component
GO:0005737 cytoplasm
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000020973
View Gene Order
ENSBTAG00000004930
Not yet available
Cross-References
SwissProt Q9NVR5
TrEMBL
UniProt Splice Variant
Entrez Gene 55172
UniGene Hs.231761
RefSeq NM_001083908 NM_018139
HUGO HGNC:20188
OMIM 612517
CCDS CCDS45100 CCDS9691
HPRD
IMGT
EMBL AK001425 AL139099 BC011400 BC013322 BX248264 BX248765 FJ158843
GenPept AAH11400 AAH13322 ACN30493 BAA91684 CAD62592 CAD66572
RNA Seq Atlas 55172

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