Version 5.4
Homo sapiens Gene: CC2D2A
Summary
InnateDB Gene IDBG-10448.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CC2D2A
Gene Name coiled-coil and C2 domain containing 2A
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000048342
Encoded Proteins
IDBP-10452
coiled-coil and C2 domain containing 2A
IDBP-363325
coiled-coil and C2 domain containing 2A
IDBP-363347
coiled-coil and C2 domain containing 2A
IDBP-484660
coiled-coil and C2 domain containing 2A
IDBP-480996
coiled-coil and C2 domain containing 2A
IDBP-478972
coiled-coil and C2 domain containing 2A
IDBP-474788
coiled-coil and C2 domain containing 2A
IDBP-475208
coiled-coil and C2 domain containing 2A
IDBP-485264
coiled-coil and C2 domain containing 2A
IDBP-481163
coiled-coil and C2 domain containing 2A
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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 4:15469865-15601557
Strand Forward strand
Band p15.32
Transcripts
ENST00000389652 ENSP00000374303
ENST00000424120 ENSP00000403465
ENST00000438599 ENSP00000401154
ENST00000512702 ENSP00000422875
ENST00000511544 ENSP00000426109
ENST00000513811
ENST00000507954 ENSP00000427221
ENST00000515124 ENSP00000424368
ENST00000514450
ENST00000503292 ENSP00000421809
ENST00000503658 ENSP00000426846
ENST00000510220
ENST00000506643 ENSP00000422931
ENST00000512202
ENST00000514039
ENST00000513035
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
They are also associated with 4 interaction(s) predicted by orthology.
Experimentally validated
Total 1 [view]
Protein-Protein 1 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 4 [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
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000039765
View Gene Order
ENSBTAG00000018638
Not yet available
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.590928
RefSeq NM_001080522 NM_001164720 NM_020785 XM_005248177 XM_005248179 XM_006713970
HUGO
OMIM
CCDS CCDS47026 CCDS47027 CCDS54744
HPRD
IMGT
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