Version 5.4
Homo sapiens Protein: CCDC22
Summary
InnateDB Protein IDBP-66076.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CCDC22
Protein Name coiled-coil domain containing 22
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000365401
InnateDB Gene IDBG-66074 (CCDC22)
Protein Structure
UniProt Annotation
Function
Subcellular Localization
Disease Associations Note=May be involved in X-linked syndromic mental retardation (PubMed:21826058). CCDC22 expression has been found to be down-regulated in a family with a phenotype consistent with X- linked syndromic mental retardation, and carrying variant Ala-17. In addition to intellectual disability, affected individuals have cardiac and skeletal abnormalities. {ECO:0000269PubMed:21826058}.
Tissue Specificity Widely expressed in adult tissues and in fetal liver and brain, with highest levels in prostate and lowest in skeletal muscle. {ECO:0000269PubMed:21826058}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 14 experimentally validated interaction(s) in this database.
Experimentally validated
Total 14 [view]
Protein-Protein 14 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003674 molecular_function
GO:0005515 protein binding
Biological Process
GO:0008150 biological_process
Cellular Component
GO:0005575 cellular_component
Protein Structure and Domains
PDB ID
InterPro IPR008530 Protein of unknown function DUF812
PFAM PF05667
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt O60826
PhosphoSite PhosphoSite-O60826
TrEMBL A0A024QZ03
UniProt Splice Variant
Entrez Gene 28952
UniGene Hs.26333
RefSeq NP_054727
HUGO HGNC:28909
OMIM 300859
CCDS CCDS14322
HPRD 06594
IMGT
EMBL AJ005890 AK291976 BC000972 BC011675 CH471224
GenPept AAH00972 AAH11675 BAF84665 CAA06747 EAW50674 EAW50676

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