CCDC22

Protein-coding gene in humans
CCDC22
Identifiers
AliasesCCDC22, CXorf37, JM1, RTSC2, coiled-coil domain containing 22
External IDsOMIM: 300859; MGI: 1859608; HomoloGene: 8515; GeneCards: CCDC22; OMA:CCDC22 - orthologs
Gene location (Human)
X chromosome (human)
Chr.X chromosome (human)[1]
X chromosome (human)
Genomic location for CCDC22
Genomic location for CCDC22
BandXp11.23Start49,235,470 bp[1]
End49,250,520 bp[1]
Gene location (Mouse)
X chromosome (mouse)
Chr.X chromosome (mouse)[2]
X chromosome (mouse)
Genomic location for CCDC22
Genomic location for CCDC22
BandX A1.1|X 3.42 cMStart7,460,048 bp[2]
End7,471,756 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • monocyte

  • gastrocnemius muscle

  • spleen

  • blood

  • parotid gland

  • body of stomach

  • right adrenal gland

  • right coronary artery

  • left adrenal gland

  • popliteal artery
Top expressed in
  • interventricular septum

  • saccule

  • otic placode

  • internal carotid artery

  • external carotid artery

  • substantia nigra

  • fossa

  • condyle

  • motor neuron

  • proximal tubule
More reference expression data
BioGPS
n/a
Gene ontology
Molecular function
  • cullin family protein binding
  • protein binding
Cellular component
  • endosome
  • nucleoplasm
  • cytosol
  • cellular component
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 ubiquitin-dependent protein catabolic process
  • negative regulation of I-kappaB kinase/NF-kappaB signaling
  • cellular copper ion homeostasis
  • post-translational protein modification
  • protein ubiquitination
  • endocytic recycling
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
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 MbChr X: 7.46 – 7.47 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Coiled-coil domain containing 22 is a protein that in humans is encoded by the CCDC22 gene.[5]

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.[6]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000101997 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000031143 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ "Entrez Gene: Coiled-coil domain containing 22".
  6. ^ 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 (May 2015). "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. doi:10.1038/ejhg.2014.109. PMC 4402643. PMID 24916641.

External links

Further reading

  • Harbour ME, Breusegem SY, Seaman MN (February 2012). "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. doi:10.1042/BJ20111761. PMID 22070227.
  • 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 (January 2012). "CCDC22: a novel candidate gene for syndromic X-linked intellectual disability". Molecular Psychiatry. 17 (1): 4–7. doi:10.1038/mp.2011.95. PMC 3586744. PMID 21826058.
  • Mulder J, Wernérus H, Shi TJ, Pontén F, Hober S, Uhlén M, Hökfelt T (June 2007). "Systematically generated antibodies against human gene products: high throughput screening on sections from the rat nervous system". Neuroscience. 146 (4): 1689–703. doi:10.1016/j.neuroscience.2007.02.054. PMID 17478047. S2CID 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 (November 2009). "Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease". Molecular Psychiatry. 14 (11): 1004–16. doi:10.1038/mp.2009.10. PMC 2860783. PMID 19204726.
  • 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 (May 2013). "CCDC22 deficiency in humans blunts activation of proinflammatory NF-κB signaling". The Journal of Clinical Investigation. 123 (5): 2244–56. doi:10.1172/JCI66466. PMC 3635737. PMID 23563313.
  • Suttner K, Depner M, Wetzke M, Klopp N, von Mutius E, Illig T, Sparwasser T, Kabesch M (June 2010). "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. doi:10.1016/j.jaci.2010.02.017. PMID 20398921.
  • Tomsig JL, Snyder SL, Creutz CE (March 2003). "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. doi:10.1074/jbc.M212632200. PMID 12522145.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.