Aliases for CCDC22 Gene
External Ids for CCDC22 Gene
Previous HGNC Symbols for CCDC22 Gene
Previous GeneCards Identifiers for CCDC22 Gene
This gene encodes a protein containing a coiled-coil domain. The encoded protein functions in the regulation of NF-kB (nuclear factor kappa-light-chain-enhancer of activated B cells) by interacting with COMMD (copper metabolism Murr1 domain-containing) proteins. The mouse orthologous protein has been shown to bind copines, which are calcium-dependent, membrane-binding proteins that may function in calcium signaling. This human gene has been identified as a novel candidate gene for syndromic X-linked intellectual disability. [provided by RefSeq, Aug 2013]
GeneCards Summary for CCDC22 Gene
CCDC22 (Coiled-Coil Domain Containing 22) is a Protein Coding gene. Diseases associated with CCDC22 include Ritscher-Schinzel Syndrome 2 and Ritscher-Schinzel Syndrome 1. Gene Ontology (GO) annotations related to this gene include cullin family protein binding.
UniProtKB/Swiss-Prot for CCDC22 Gene
Involved in regulation of NF-kappa-B signaling. Promotes ubiquitination of I-kappa-B-kinase subunit IKBKB and its subsequent proteasomal degradation leading to NF-kappa-B activation; the function may involve association with COMMD8 and a CUL1-dependent E3 ubiquitin ligase complex. May down-regulate NF-kappa-B activity via association with COMMD1 and involving a CUL2-dependent E3 ubiquitin ligase complex. Regulates the cellular localization of COMM domain-containing proteins, such as COMMD1 and COMMD10 (PubMed:23563313). Plays a role in copper ion homeostasis. Involved in copper-dependent ATP7A trafficking between the trans-Golgi network and vesicles in the cell periphery; the function is proposed to depend on its association within the CCC complex and cooperation with the WASH complex on early endosomes (PubMed:25355947).