CCDC22

Identifiers

CCDC22, CXorf37, JM1, RTSC2, coiled-coil domain containing 22

External IDs

MGI: 1859608 HomoloGene: 8515 GeneCards: CCDC22

Gene ontology
Molecular function	• cullin family protein binding • protein binding
Cellular component	• endosome • nucleoplasm • cytosol
Biological process	• protein transport • positive regulation of I-kappaB kinase/NF-kappaB signaling • cytoplasmic sequestering of NF-kappaB • Golgi to plasma membrane transport • positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process • negative regulation of I-kappaB kinase/NF-kappaB signaling • cellular copper ion homeostasis • protein ubiquitination • post-translational protein modification • transport
Sources:Amigo / QuickGO

Orthologs

Species

Human

Mouse

Entrez


28952


54638

Ensembl


ENSG00000101997


ENSMUSG00000031143

UniProt


O60826


Q9JIG7

RefSeq (mRNA)


NM_014008


NM_138603

RefSeq (protein)


NP_054727


NP_613069

Location (UCSC)

Chr X: 49.24 – 49.25 Mb

Chr X: 7.59 – 7.61 Mb

PubMed search

^[1]

^[2]

Wikidata

View/Edit Human

View/Edit Mouse

Coiled-coil domain containing 22 is a protein that in humans is encoded by the CCDC22 gene.^[3]

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. This human gene has been identified as a novel candidate gene for syndromic X-linked intellectual disability. [provided by RefSeq, Aug 2013]. ##Evidence-Data-START## Transcript exon combination :: BC000972.2, AK291976.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025081, ERS025082 [ECO:0000348] ##Evidence-Data-END##

Clinical significance

Mutations in CCDC22 are associated to Ritscher-Schinzel syndrome .^[4]

References

↑ "Human PubMed Reference:".
↑ "Mouse PubMed Reference:".
↑ "Entrez Gene: Coiled-coil domain containing 22". Retrieved 2014-06-12.
↑ Kolanczyk, M; Krawitz, P; Hecht, J; Hupalowska, A; Miaczynska, M; Marschner, K; Schlack, C; Emerich, D; Kobus, K; Kornak, U; Robinson, P. N.; Plecko, B; Grangl, G; Uhrig, S; Mundlos, S; Horn, D (2014). "Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome". European Journal of Human Genetics. PMID 24916641. doi:10.1038/ejhg.2014.109.

External links

Human CCDC22 genome location and CCDC22 gene details page in the UCSC Genome Browser.

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

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CCDC22

Function

Clinical significance

References

External links

Further reading