CCDC22 explained

Coiled-coil domain containing 22 is a protein that in humans is encoded by the CCDC22 gene.^[1]

Function

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. In humans, this gene has been identified as a novel candidate gene for syndromic X-linked intellectual disability.

Clinical significance

Mutations in CCDC22 are associated with Ritscher-Schinzel syndrome.^[2]

Further reading

• Harbour ME, Breusegem SY, Seaman MN . Recruitment of the endosomal WASH complex is mediated by the extended 'tail' of Fam21 binding to the retromer protein Vps35 . The Biochemical Journal . 442 . 1 . 209–20 . February 2012 . 22070227 . 10.1042/BJ20111761 .
• Voineagu I, Huang L, Winden K, Lazaro M, Haan E, Nelson J, McGaughran J, Nguyen LS, Friend K, Hackett A, Field M, Gecz J, Geschwind D . CCDC22: a novel candidate gene for syndromic X-linked intellectual disability . Molecular Psychiatry . 17 . 1 . 4–7 . January 2012 . 21826058 . 3586744 . 10.1038/mp.2011.95 .
• Mulder J, Wernérus H, Shi TJ, Pontén F, Hober S, Uhlén M, Hökfelt T . Systematically generated antibodies against human gene products: high throughput screening on sections from the rat nervous system . Neuroscience . 146 . 4 . 1689–703 . June 2007 . 17478047 . 10.1016/j.neuroscience.2007.02.054 . 34574699 .
• Chapuis J, Hot D, Hansmannel F, Kerdraon O, Ferreira S, Hubans C, Maurage CA, Huot L, Bensemain F, Laumet G, Ayral AM, Fievet N, Hauw JJ, DeKosky ST, Lemoine Y, Iwatsubo T, Wavrant-Devrièze F, Dartigues JF, Tzourio C, Buée L, Pasquier F, Berr C, Mann D, Lendon C, Alpérovitch A, Kamboh MI, Amouyel P, Lambert JC . Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease . Molecular Psychiatry . 14 . 11 . 1004–16 . November 2009 . 19204726 . 2860783 . 10.1038/mp.2009.10 .
• Starokadomskyy P, Gluck N, Li H, Chen B, Wallis M, Maine GN, Mao X, Zaidi IW, Hein MY, McDonald FJ, Lenzner S, Zecha A, Ropers HH, Kuss AW, McGaughran J, Gecz J, Burstein E . CCDC22 deficiency in humans blunts activation of proinflammatory NF-κB signaling . The Journal of Clinical Investigation . 123 . 5 . 2244–56 . May 2013 . 23563313 . 3635737 . 10.1172/JCI66466 .
• Suttner K, Depner M, Wetzke M, Klopp N, von Mutius E, Illig T, Sparwasser T, Kabesch M . Genetic variants harbored in the forkhead box protein 3 locus increase hay fever risk . The Journal of Allergy and Clinical Immunology . 125 . 6 . 1395–9 . June 2010 . 20398921 . 10.1016/j.jaci.2010.02.017 . free .
• Tomsig JL, Snyder SL, Creutz CE . Identification of targets for calcium signaling through the copine family of proteins. Characterization of a coiled-coil copine-binding motif . The Journal of Biological Chemistry . 278 . 12 . 10048–54 . March 2003 . 12522145 . 10.1074/jbc.M212632200 . free .

Notes and References

1. Web site: Entrez Gene: Coiled-coil domain containing 22 .
2. Kolanczyk M, Krawitz P, Hecht J, Hupalowska A, Miaczynska M, Marschner K, Schlack C, Emmerich D, Kobus K, Kornak U, Robinson PN, Plecko B, Grangl G, Uhrig S, Mundlos S, Horn D . Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome . European Journal of Human Genetics . 23 . 5 . 633–8 . May 2015 . 24916641 . 10.1038/ejhg.2014.109 . 4402643 .