CCDC22: Difference between revisions

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{{Underlinked|date=June 2014}}
{{Infobox_gene}}
{{Infobox_gene}}
'''Coiled-coil domain containing 22''' is a [[protein]] that in humans is encoded by the CCDC22 [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: Coiled-coil domain containing 22 | url = https://www.ncbi.nlm.nih.gov/gene/28952 }}</ref>


'''Coiled-coil domain containing 22''' is a [[protein]] that in humans is encoded by the CCDC22 [[gene]].<ref name="entrez">
== Function ==
{{cite web
| title = Entrez Gene: Coiled-coil domain containing 22
| url = https://www.ncbi.nlm.nih.gov/gene/28952
| accessdate = 2014-06-12 <!-- T05:23:11.706260-08:00 -->
}}</ref>


==Function==
This gene encodes a protein containing a [[Coiled coil|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 [[COMMD1|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]].
 
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 ==
== Clinical significance ==
Mutations in CCDC22 are associated to {{SWL|type=mutations_associated_to|target=Ritscher-Schinzel syndrome|label=Ritscher-Schinzel syndrome}}.<ref>{{Cite journal
Mutations in CCDC22 are associated to {{SWL|type=mutations_associated_to|target=Ritscher-Schinzel syndrome|label=Ritscher-Schinzel syndrome}}.<ref>{{cite journal | vauthors = 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 | title = Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome | journal = European Journal of Human Genetics | volume = 23 | issue = 5 | pages = 633–8 | date = May 2015 | pmid = 24916641 | doi = 10.1038/ejhg.2014.109 | pmc = 4402643 }}</ref>
| pmid = 24916641
| year = 2014
| author1 = Kolanczyk
| first1 = M
| title = Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome
| journal = European Journal of Human Genetics
| last2 = Krawitz
| first2 = P
| last3 = Hecht
| first3 = J
| last4 = Hupalowska
| first4 = A
| last5 = Miaczynska
| first5 = M
| last6 = Marschner
| first6 = K
| last7 = Schlack
| first7 = C
| last8 = Emerich
| first8 = D
| last9 = Kobus
| first9 = K
| last10 = Kornak
| first10 = U
| last11 = Robinson
| first11 = P. N.
| last12 = Plecko
| first12 = B
| last13 = Grangl
| first13 = G
| last14 = Uhrig
| first14 = S
| last15 = Mundlos
| first15 = S
| last16 = Horn
| first16 = D
| doi = 10.1038/ejhg.2014.109
}}</ref>


== References ==
== References ==
Line 58: Line 13:
{{reflist}}
{{reflist}}


==External links==
== External links ==
* {{UCSC gene info|CCDC22}}
* {{UCSC gene info|CCDC22}}


Line 64: Line 19:


{{refbegin | 2}}
{{refbegin | 2}}
*{{Cite journal
* {{cite journal | vauthors = Harbour ME, Breusegem SY, Seaman MN | title = Recruitment of the endosomal WASH complex is mediated by the extended 'tail' of Fam21 binding to the retromer protein Vps35 | journal = The Biochemical Journal | volume = 442 | issue = 1 | pages = 209–20 | date = February 2012 | pmid = 22070227 | doi = 10.1042/BJ20111761 }}
| pmid = 22070227
* {{cite journal | vauthors = 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 | title = CCDC22: a novel candidate gene for syndromic X-linked intellectual disability | journal = Molecular Psychiatry | volume = 17 | issue = 1 | pages = 4–7 | date = January 2012 | pmid = 21826058 | pmc = 3586744 | doi = 10.1038/mp.2011.95 }}
| year = 2012
* {{cite journal | vauthors = Mulder J, Wernérus H, Shi TJ, Pontén F, Hober S, Uhlén M, Hökfelt T | title = Systematically generated antibodies against human gene products: high throughput screening on sections from the rat nervous system | journal = Neuroscience | volume = 146 | issue = 4 | pages = 1689–703 | date = June 2007 | pmid = 17478047 | doi = 10.1016/j.neuroscience.2007.02.054 }}
| author1 = Harbour
* {{cite journal | vauthors = 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 | title = Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease | journal = Molecular Psychiatry | volume = 14 | issue = 11 | pages = 1004–16 | date = November 2009 | pmid = 19204726 | pmc = 2860783 | doi = 10.1038/mp.2009.10 }}
| first1 = M. E.
* {{cite journal | vauthors = 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 | title = CCDC22 deficiency in humans blunts activation of proinflammatory NF-κB signaling | journal = The Journal of Clinical Investigation | volume = 123 | issue = 5 | pages = 2244–56 | date = May 2013 | pmid = 23563313 | pmc = 3635737 | doi = 10.1172/JCI66466 }}
| title = Recruitment of the endosomal WASH complex is mediated by the extended 'tail' of Fam21 binding to the retromer protein Vps35
* {{cite journal | vauthors = Suttner K, Depner M, Wetzke M, Klopp N, von Mutius E, Illig T, Sparwasser T, Kabesch M | title = Genetic variants harbored in the forkhead box protein 3 locus increase hay fever risk | journal = The Journal of Allergy and Clinical Immunology | volume = 125 | issue = 6 | pages = 1395–9 | date = June 2010 | pmid = 20398921 | doi = 10.1016/j.jaci.2010.02.017 }}
| journal = Biochemical Journal
* {{cite journal | vauthors = Tomsig JL, Snyder SL, Creutz CE | title = Identification of targets for calcium signaling through the copine family of proteins. Characterization of a coiled-coil copine-binding motif | journal = The Journal of Biological Chemistry | volume = 278 | issue = 12 | pages = 10048–54 | date = March 2003 | pmid = 12522145 | doi = 10.1074/jbc.M212632200 }}
| volume = 442
| issue = 1
| pages = 209–20
| last2 = Breusegem
| first2 = S. Y.
| last3 = Seaman
| first3 = M. N.
| doi = 10.1042/BJ20111761
}}
*{{Cite journal
| pmid = 21826058
| year = 2012
| author1 = Voineagu
| first1 = I
| title = CCDC22: A novel candidate gene for syndromic X-linked intellectual disability
| journal = Molecular Psychiatry
| volume = 17
| issue = 1
| pages = 4–7
| last2 = Huang
| first2 = L
| last3 = Winden
| first3 = K
| last4 = Lazaro
| first4 = M
| last5 = Haan
| first5 = E
| last6 = Nelson
| first6 = J
| last7 = McGaughran
| first7 = J
| last8 = Nguyen
| first8 = L. S.
| last9 = Friend
| first9 = K
| last10 = Hackett
| first10 = A
| last11 = Field
| first11 = M
| last12 = Gecz
| first12 = J
| last13 = Geschwind
| first13 = D
| doi = 10.1038/mp.2011.95
| pmc = 3586744
}}
*{{Cite journal
| pmid = 17478047
| year = 2007
| author1 = Mulder
| first1 = J
| title = Systematically generated antibodies against human gene products: High throughput screening on sections from the rat nervous system
| journal = Neuroscience
| volume = 146
| issue = 4
| pages = 1689–703
| last2 = Wernérus
| first2 = H
| last3 = Shi
| first3 = T. J.
| last4 = Pontén
| first4 = F
| last5 = Hober
| first5 = S
| last6 = Uhlén
| first6 = M
| last7 = Hökfelt
| first7 = T
| doi = 10.1016/j.neuroscience.2007.02.054
}}
*{{Cite journal
| pmid = 19204726
| year = 2009
| author1 = Chapuis
| first1 = J
| title = Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease
| journal = Molecular Psychiatry
| volume = 14
| issue = 11
| pages = 1004–16
| last2 = Hot
| first2 = D
| last3 = Hansmannel
| first3 = F
| last4 = Kerdraon
| first4 = O
| last5 = Ferreira
| first5 = S
| last6 = Hubans
| first6 = C
| last7 = Maurage
| first7 = C. A.
| last8 = Huot
| first8 = L
| last9 = Bensemain
| first9 = F
| last10 = Laumet
| first10 = G
| last11 = Ayral
| first11 = A. M.
| last12 = Fievet
| first12 = N
| last13 = Hauw
| first13 = J. J.
| last14 = Dekosky
| first14 = S. T.
| last15 = Lemoine
| first15 = Y
| last16 = Iwatsubo
| first16 = T
| last17 = Wavrant-Devrièze
| first17 = F
| last18 = Dartigues
| first18 = J. F.
| last19 = Tzourio
| first19 = C
| last20 = Buée
| first20 = L
| last21 = Pasquier
| first21 = F
| last22 = Berr
| first22 = C
| last23 = Mann
| first23 = D
| last24 = Lendon
| first24 = C
| last25 = Alpérovitch
| first25 = A
| last26 = Kamboh
| first26 = M. I.
| last27 = Amouyel
| first27 = P
| last28 = Lambert
| first28 = J. C.
| doi = 10.1038/mp.2009.10
| pmc = 2860783
}}
*{{Cite journal
| pmid = 23563313
| year = 2013
| author1 = Starokadomskyy
| first1 = P
| title = CCDC22 deficiency in humans blunts activation of proinflammatory NF-κB signaling
| journal = Journal of Clinical Investigation
| volume = 123
| issue = 5
| pages = 2244–56
| last2 = Gluck
| first2 = N
| last3 = Li
| first3 = H
| last4 = Chen
| first4 = B
| last5 = Wallis
| first5 = M
| last6 = Maine
| first6 = G. N.
| last7 = Mao
| first7 = X
| last8 = Zaidi
| first8 = I. W.
| last9 = Hein
| first9 = M. Y.
| last10 = McDonald
| first10 = F. J.
| last11 = Lenzner
| first11 = S
| last12 = Zecha
| first12 = A
| last13 = Ropers
| first13 = H. H.
| last14 = Kuss
| first14 = A. W.
| last15 = McGaughran
| first15 = J
| last16 = Gecz
| first16 = J
| last17 = Burstein
| first17 = E
| doi = 10.1172/JCI66466
| pmc = 3635737
}}
*{{Cite journal
| pmid = 20398921
| year = 2010
| author1 = Suttner
| first1 = K
| title = Genetic variants harbored in the forkhead box protein 3 locus increase hay fever risk
| journal = Journal of Allergy and Clinical Immunology
| volume = 125
| issue = 6
| pages = 1395-9
| last2 = Depner
| first2 = M
| last3 = Wetzke
| first3 = M
| last4 = Klopp
| first4 = N
| last5 = von Mutius
| first5 = E
| last6 = Illig
| first6 = T
| last7 = Sparwasser
| first7 = T
| last8 = Kabesch
| first8 = M
| doi = 10.1016/j.jaci.2010.02.017
}}
*{{Cite journal
| pmid = 12522145
| year = 2003
| author1 = Tomsig
| first1 = J. L.
| title = Identification of targets for calcium signaling through the copine family of proteins. Characterization of a coiled-coil copine-binding motif
| journal = Journal of Biological Chemistry
| volume = 278
| issue = 12
| pages = 10048–54
| last2 = Snyder
| first2 = S. L.
| last3 = Creutz
| first3 = C. E.
| doi = 10.1074/jbc.M212632200
}}


{{refend}}
{{refend}}


{{NLM content}}
{{NLM content}}

Latest revision as of 22:12, 15 May 2018

VALUE_ERROR (nil)
Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

n/a

n/a

Ensembl

n/a

n/a

UniProt

n/a

n/a

RefSeq (mRNA)

n/a

n/a

RefSeq (protein)

n/a

n/a

Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

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. This human gene has been identified as a novel candidate gene for syndromic X-linked intellectual disability.

Clinical significance

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

References

  1. ↑ "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 (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

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

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