Version 5.4
Mus musculus Gene: Cc2d2a
Summary
InnateDB Gene IDBG-160972.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Cc2d2a
Gene Name coiled-coil and C2 domain containing 2A
Synonyms
Species Mus musculus
Ensembl Gene ENSMUSG00000039765
Encoded Proteins
IDBP-160974
coiled-coil and C2 domain containing 2A
IDBP-533760
coiled-coil and C2 domain containing 2A
IDBP-533346
coiled-coil and C2 domain containing 2A
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000048342:
This gene encodes a coiled-coil and calcium binding domain protein that appears to play a critical role in cilia formation. Mutations in this gene cause Meckel syndrome type 6, as well as Joubert syndrome type 9. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
Gene Information
Type Protein coding
Genomic Location Chromosome 5:43662379-43740972
Strand Forward strand
Band B3
Transcripts
ENSMUST00000048150 ENSMUSP00000048320
ENSMUST00000156034 ENSMUSP00000118705
ENSMUST00000142303
ENSMUST00000125866 ENSMUSP00000114349
ENSMUST00000127355
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 4 [view]
Protein-Protein 4 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
Biological Process
GO:0007224 smoothened signaling pathway
GO:0042384 cilium assembly
GO:0060271 cilium morphogenesis
Cellular Component
GO:0005737 cytoplasm
GO:0005856 cytoskeleton
GO:0035869 ciliary transition zone
GO:0036038 TCTN-B9D complex
Orthologs
Species
Homo sapiens
Bos taurus
Gene ID
Gene Order
ENSG00000048342
View Gene Order
ENSBTAG00000018638
Not yet available
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Mm.402768 Mm.44434 Mm.486802
RefSeq NM_172274 XM_006503933 XM_006503934 XM_006503935 XM_006503936 XM_006503937 XM_006503938
OMIM
CCDS CCDS39080
HPRD
IMGT
MGI ID
MGI Symbol
EMBL
GenPept
RNA Seq Atlas

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