Cadherin related family member 3: Difference between revisions

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{{cite web
{{cite web
| title = Entrez Gene: Cadherin related family member 3
| title = Entrez Gene: Cadherin related family member 3
| url = http://www.ncbi.nlm.nih.gov/gene/222256
| url = https://www.ncbi.nlm.nih.gov/gene/222256
| accessdate = 2017-09-05
| access-date = 2017-09-05
}}</ref> The protein is predominately expressed in [[respiratory epithelium]]<ref>{{Cite web|url=http://www.proteinatlas.org/ENSG00000128536-CDHR3/tissue|title=Tissue expression of CDHR3 - Summary - The Human Protein Atlas|website=www.proteinatlas.org|access-date=2017-09-05}}</ref> and the first notion of its clinical implications was from the discovery that genetic variation of ''CDHR3'' is strongly associated to early severe [[asthma]] exacerbations in children.<ref name=":0">{{Cite journal|last=Bønnelykke|first=Klaus|last2=Sleiman|first2=Patrick|last3=Nielsen|first3=Kasper|last4=Kreiner-Møller|first4=Eskil|last5=Mercader|first5=Josep M|last6=Belgrave|first6=Danielle|last7=Dekker|first7=Herman T den|last8=Husby|first8=Anders|last9=Sevelsted|first9=Astrid|title=A genome-wide association study identifies CDHR3 as a susceptibility locus for early childhood asthma with severe exacerbations|url=http://www.nature.com/doifinder/10.1038/ng.2830|journal=Nature Genetics|volume=46|issue=1|pages=51–55|doi=10.1038/ng.2830}}</ref> Subsequent studies have suggested that CDHR3 is a receptor for a subtype of [[rhinovirus]]<ref name=":1" /><ref name=":2" />.
}}</ref> The protein is predominately expressed in [[respiratory epithelium]]<ref>{{Cite web|url=http://www.proteinatlas.org/ENSG00000128536-CDHR3/tissue|title=Tissue expression of CDHR3 - Summary - The Human Protein Atlas|website=www.proteinatlas.org|access-date=2017-09-05}}</ref> and the first notion of its clinical implications was from the discovery that genetic variation of ''CDHR3'' is strongly associated to early severe [[asthma]] exacerbations in children.<ref name=":0">{{cite journal | vauthors = Bønnelykke K, Sleiman P, Nielsen K, Kreiner-Møller E, Mercader JM, Belgrave D, den Dekker HT, Husby A, Sevelsted A, Faura-Tellez G, Mortensen LJ, Paternoster L, Flaaten R, Mølgaard A, Smart DE, Thomsen PF, Rasmussen MA, Bonàs-Guarch S, Holst C, Nohr EA, Yadav R, March ME, Blicher T, Lackie PM, Jaddoe VW, Simpson A, Holloway JW, Duijts L, Custovic A, Davies DE, Torrents D, Gupta R, Hollegaard MV, Hougaard DM, Hakonarson H, Bisgaard H | display-authors = 6 | title = A genome-wide association study identifies CDHR3 as a susceptibility locus for early childhood asthma with severe exacerbations | journal = Nature Genetics | volume = 46 | issue = 1 | pages = 51–5 | date = January 2014 | pmid = 24241537 | doi = 10.1038/ng.2830 | url = http://orbit.dtu.dk/en/publications/a-genomewide-association-study-identifies-cdhr3-as-a-susceptibility-locus-for-early-childhood-asthma-with-severe-exacerbations(b0ec6ece-a73d-497e-b688-b5b810b430ba).html }}</ref> Subsequent studies have suggested that CDHR3 is a receptor for a subtype of [[rhinovirus]].<ref name=":1" /><ref name=":2" />


== Function ==
== Function and cellular location ==
The exact physiological role of CDHR3 is not known, but as the CDHR3 protein is expressed in [[Epithelium|epithelial tissues]] and has six extracellular cadherin domains plus a short transmembrane segment, it is believed to be related the function of similar cadherins which function in [[cell adhesion]] and [[Cell signaling|cell-to-cell signaling]].<ref name=":0" />
The exact [[Function (biology)|physiological role]] of CDHR3 is not known, but as the CDHR3 protein is expressed in [[Epithelium|epithelial tissues]] and has six extracellular [[cadherin]] domains plus a short [[transmembrane segment]], it is believed to be related to the function of similar cadherins which function in [[cell adhesion]] and [[Cell signaling|cell-to-cell signaling]].<ref name=":0" />
Two single-cell RNA expression studies furthermore found CDHR3 to be highly selectively expressed in ciliated epithelial cells, compared to other cell types in the respiratory epithelium, and thereby to be a marker for ciliated cells in respiratory airway tissue<ref>{{cite journal | vauthors = Montoro DT, Haber AL, Biton M, Vinarsky V, Lin B, Birket SE, Yuan F, Chen S, Leung HM, Villoria J, Rogel N, Burgin G, Tsankov AM, Waghray A, Slyper M, Waldman J, Nguyen L, Dionne D, Rozenblatt-Rosen O, Tata PR, Mou H, Shivaraju M, Bihler H, Mense M, Tearney GJ, Rowe SM, Engelhardt JF, Regev A, Rajagopal J | display-authors = 6 | title = A revised airway epithelial hierarchy includes CFTR-expressing ionocytes | journal = Nature | volume = 560 | issue = 7718 | pages = 319–324 | date = August 2018 | pmid = 30069044 | doi = 10.1038/s41586-018-0393-7 }}</ref><ref>{{cite journal | vauthors = Ordovas-Montanes J, Dwyer DF, Nyquist SK, Buchheit KM, Vukovic M, Deb C, Wadsworth MH, Hughes TK, Kazer SW, Yoshimoto E, Cahill KN, Bhattacharyya N, Katz HR, Berger B, Laidlaw TM, Boyce JA, Barrett NA, Shalek AK | display-authors = 6 | title = Allergic inflammatory memory in human respiratory epithelial progenitor cells | journal = Nature | volume = 560 | issue = 7720 | pages = 649–654 | date = August 2018 | pmid = 30135581 | pmc = 6133715 | doi = 10.1038/s41586-018-0449-8 }}</ref>.


== Clinical significance ==
== Clinical significance ==
A [[Nonsynonymous substitution|nonsynonymous]] mutation in ''CDHR3'' at rs6967330 (C529Y) was at first found to be associated with severe asthma exacerbations in early childhood, with genome-wide significance. Functional experiments further indicated that this gene polymorphism leads to increased surface expression of the CDHR3 protein.<ref name=":0" /> A subsequent study found that CDHR3 is a probable receptor for rhinovirus type C, a common form of [[rhinovirus]].<ref name=":1">{{Cite journal|last=Bochkov|first=Yury A.|last2=Watters|first2=Kelly|last3=Ashraf|first3=Shamaila|last4=Griggs|first4=Theodor F.|last5=Devries|first5=Mark K.|last6=Jackson|first6=Daniel J.|last7=Palmenberg|first7=Ann C.|last8=Gern|first8=James E.|date=2015-04-28|title=Cadherin-related family member 3, a childhood asthma susceptibility gene product, mediates rhinovirus C binding and replication|url=http://www.pnas.org/content/112/17/5485|journal=Proceedings of the National Academy of Sciences|language=en|volume=112|issue=17|pages=5485–5490|doi=10.1073/pnas.1421178112|issn=0027-8424|pmid=25848009}}</ref>
A [[Nonsynonymous substitution|nonsynonymous mutation]] in ''CDHR3'' at rs6967330 (C529Y) was at first found to be associated with severe asthma exacerbations in early childhood, with genome-wide significance. Functional experiments further indicated that this gene [[Polymorphism (biology)|polymorphism]] leads to increased surface [[Gene expression|expression]] of the CDHR3 protein.<ref name=":0" /> A subsequent study found that CDHR3 is a probable receptor for rhinovirus type C, a common form of [[rhinovirus]].<ref name=":1">{{cite journal | vauthors = Bochkov YA, Watters K, Ashraf S, Griggs TF, Devries MK, Jackson DJ, Palmenberg AC, Gern JE | display-authors = 6 | title = Cadherin-related family member 3, a childhood asthma susceptibility gene product, mediates rhinovirus C binding and replication | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 112 | issue = 17 | pages = 5485–90 | date = April 2015 | pmid = 25848009 | pmc = 4418890 | doi = 10.1073/pnas.1421178112 | url = http://www.pnas.org/content/112/17/5485 | bibcode = 2015PNAS..112.5485B }}</ref>
 
Recent studies furthermore found that ''CDHR3'' gene variation is not associated with childhood [[bronchiolitis]] from [[Human respiratory syncytial virus|respiratory syncytial virus]] (RSV) infection,<ref name=":2">{{Cite journal|last=Husby|first=Anders|last2=Pasanen|first2=Anu|last3=Waage|first3=Johannes|last4=Sevelsted|first4=Astrid|last5=Hodemaekers|first5=Hennie|last6=Janssen|first6=Riny|last7=Karjalainen|first7=Minna K.|last8=Stokholm|first8=Jakob|last9=Chawes|first9=Bo L.|title=CDHR3  gene variation and childhood bronchiolitis|url=http://linkinghub.elsevier.com/retrieve/pii/S0091674917312678|journal=Journal of Allergy and Clinical Immunology|doi=10.1016/j.jaci.2017.06.044}}</ref> which resemble early asthma exacerbations as a phenotype. However, childhood bronchiolitis not caused by RSV infection, of which rhinovirus is often implicated, was associated with the CDHR3 gene variation. This is line with the results from a study on [[chronic rhinosinusitis]], which often is associated rhinovirus infection, where ''CDHR3'' gene variation also was found to be a strong risk factor.<ref>{{Cite journal|last=Chang|first=Eugene H.|last2=Willis|first2=Amanda L.|last3=McCrary|first3=Hilary C.|last4=Noutsios|first4=George T.|last5=Le|first5=Christopher H.|last6=Chiu|first6=Alexander G.|last7=Mansfield|first7=Corrine J.|last8=Reed|first8=Danielle R.|last9=Brooks|first9=Steven G.|title=Association between the  CDHR3  rs6967330 risk allele and chronic rhinosinusitis|url=http://linkinghub.elsevier.com/retrieve/pii/S0091674916314348|journal=Journal of Allergy and Clinical Immunology|volume=139|issue=6|pages=1990–1992.e2|doi=10.1016/j.jaci.2016.10.027}}</ref> Therefore, CDHR3 seems to causally linked to increased propensity for rhinovirus C infection.


Recent studies furthermore found that ''CDHR3'' gene variation is not associated with childhood [[bronchiolitis]] from [[Human respiratory syncytial virus|respiratory syncytial virus]] (RSV) infection,<ref name=":2">{{cite journal | vauthors = Husby A, Pasanen A, Waage J, Sevelsted A, Hodemaekers H, Janssen R, Karjalainen MK, Stokholm J, Chawes BL, Korppi M, Wennergren G, Heinzmann A, Bont L, Bisgaard H, Bønnelykke K | display-authors = 6 | title = CDHR3 gene variation and childhood bronchiolitis | journal = The Journal of Allergy and Clinical Immunology | volume = 140 | issue = 5 | pages = 1469–1471.e7 | date = November 2017 | pmid = 28782631 | pmc = 5675819 | doi = 10.1016/j.jaci.2017.06.044 }}</ref> which resemble early asthma exacerbations as a phenotype. However, childhood bronchiolitis not caused by RSV infection, of which rhinovirus is often implicated, was associated with the CDHR3 gene variation. This is line with the results from a study on [[chronic rhinosinusitis]], which often is associated rhinovirus infection, where ''CDHR3'' gene variation also was found to be a strong [[risk factor]].<ref>{{cite journal | vauthors = Chang EH, Willis AL, McCrary HC, Noutsios GT, Le CH, Chiu AG, Mansfield CJ, Reed DR, Brooks SG, Adappa ND, Palmer JN, Cohen NG, Stern DA, Guerra S, Martinez FD | display-authors = 6 | title = Association between the CDHR3 rs6967330 risk allele and chronic rhinosinusitis | journal = The Journal of Allergy and Clinical Immunology | volume = 139 | issue = 6 | pages = 1990–1992.e2 | date = June 2017 | pmid = 27923563 | pmc = 5457723 | doi = 10.1016/j.jaci.2016.10.027 }}</ref> Therefore, CDHR3 seems to causally linked to increased propensity for rhinovirus C infection.
{{clear}}
== References ==
== References ==
{{reflist}}
{{reflist}}


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{{refbegin | 2}}
{{refbegin | 2}}
*{{cite journal |vauthors=Bønnelykke K, Sleiman P, Nielsen K, Kreiner-Møller E, Mercader JM, Belgrave D, den Dekker HT, Husby A, Sevelsted A, Faura-Tellez G, Mortensen LJ, Paternoster L, Flaaten R, Mølgaard A, Smart DE, Thomsen PF, Rasmussen MA, Bonàs-Guarch S, Holst C, Nohr EA, Yadav R, March ME, Blicher T, Lackie PM, Jaddoe VW, Simpson A, Holloway JW, Duijts L, Custovic A, Davies DE, Torrents D, Gupta R, Hollegaard MV, Hougaard DM, Hakonarson H, Bisgaard H |title=A genome-wide association study identifies CDHR3 as a susceptibility locus for early childhood asthma with severe exacerbations |journal=Nat. Genet. |volume=46 |issue=1 |pages=51–5 |year=2014 |pmid=24241537 |doi=10.1038/ng.2830 |url=}}
* {{cite journal | vauthors = Bønnelykke K, Sleiman P, Nielsen K, Kreiner-Møller E, Mercader JM, Belgrave D, den Dekker HT, Husby A, Sevelsted A, Faura-Tellez G, Mortensen LJ, Paternoster L, Flaaten R, Mølgaard A, Smart DE, Thomsen PF, Rasmussen MA, Bonàs-Guarch S, Holst C, Nohr EA, Yadav R, March ME, Blicher T, Lackie PM, Jaddoe VW, Simpson A, Holloway JW, Duijts L, Custovic A, Davies DE, Torrents D, Gupta R, Hollegaard MV, Hougaard DM, Hakonarson H, Bisgaard H | display-authors = 6 | title = A genome-wide association study identifies CDHR3 as a susceptibility locus for early childhood asthma with severe exacerbations | journal = Nature Genetics | volume = 46 | issue = 1 | pages = 51–5 | date = January 2014 | pmid = 24241537 | doi = 10.1038/ng.2830 | url = http://orbit.dtu.dk/en/publications/a-genomewide-association-study-identifies-cdhr3-as-a-susceptibility-locus-for-early-childhood-asthma-with-severe-exacerbations(b0ec6ece-a73d-497e-b688-b5b810b430ba).html }}
*{{cite journal |vauthors=Bochkov YA, Watters K, Ashraf S, Griggs TF, Devries MK, Jackson DJ, Palmenberg AC, Gern JE |title=Cadherin-related family member 3, a childhood asthma susceptibility gene product, mediates rhinovirus C binding and replication |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=112 |issue=17 |pages=5485–90 |year=2015 |pmid=25848009 |pmc=4418890 |doi=10.1073/pnas.1421178112 |url=}}
* {{cite journal | vauthors = Bochkov YA, Watters K, Ashraf S, Griggs TF, Devries MK, Jackson DJ, Palmenberg AC, Gern JE | title = Cadherin-related family member 3, a childhood asthma susceptibility gene product, mediates rhinovirus C binding and replication | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 112 | issue = 17 | pages = 5485–90 | date = April 2015 | pmid = 25848009 | pmc = 4418890 | doi = 10.1073/pnas.1421178112 | bibcode = 2015PNAS..112.5485B }}


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Latest revision as of 13:18, 5 November 2018

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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

Cadherin related family member 3 (CDHR3), also known as CDH28 or its abbreviation CDHR3, is a protein that in humans is encoded by the CDHR3 gene. [1] The protein is predominately expressed in respiratory epithelium[2] and the first notion of its clinical implications was from the discovery that genetic variation of CDHR3 is strongly associated to early severe asthma exacerbations in children.[3] Subsequent studies have suggested that CDHR3 is a receptor for a subtype of rhinovirus.[4][5]

Function and cellular location

The exact physiological role of CDHR3 is not known, but as the CDHR3 protein is expressed in epithelial tissues and has six extracellular cadherin domains plus a short transmembrane segment, it is believed to be related to the function of similar cadherins which function in cell adhesion and cell-to-cell signaling.[3] Two single-cell RNA expression studies furthermore found CDHR3 to be highly selectively expressed in ciliated epithelial cells, compared to other cell types in the respiratory epithelium, and thereby to be a marker for ciliated cells in respiratory airway tissue[6][7].

Clinical significance

A nonsynonymous mutation in CDHR3 at rs6967330 (C529Y) was at first found to be associated with severe asthma exacerbations in early childhood, with genome-wide significance. Functional experiments further indicated that this gene polymorphism leads to increased surface expression of the CDHR3 protein.[3] A subsequent study found that CDHR3 is a probable receptor for rhinovirus type C, a common form of rhinovirus.[4]

Recent studies furthermore found that CDHR3 gene variation is not associated with childhood bronchiolitis from respiratory syncytial virus (RSV) infection,[5] which resemble early asthma exacerbations as a phenotype. However, childhood bronchiolitis not caused by RSV infection, of which rhinovirus is often implicated, was associated with the CDHR3 gene variation. This is line with the results from a study on chronic rhinosinusitis, which often is associated rhinovirus infection, where CDHR3 gene variation also was found to be a strong risk factor.[8] Therefore, CDHR3 seems to causally linked to increased propensity for rhinovirus C infection.

References

  1. ↑ "Entrez Gene: Cadherin related family member 3". Retrieved 2017-09-05.
  2. ↑ "Tissue expression of CDHR3 - Summary - The Human Protein Atlas". www.proteinatlas.org. Retrieved 2017-09-05.
  3. ↑ 3.0 3.1 3.2 Bønnelykke K, Sleiman P, Nielsen K, Kreiner-Møller E, Mercader JM, Belgrave D, et al. (January 2014). "A genome-wide association study identifies CDHR3 as a susceptibility locus for early childhood asthma with severe exacerbations". Nature Genetics. 46 (1): 51–5. doi:10.1038/ng.2830. PMID 24241537.
  4. ↑ 4.0 4.1 Bochkov YA, Watters K, Ashraf S, Griggs TF, Devries MK, Jackson DJ, et al. (April 2015). "Cadherin-related family member 3, a childhood asthma susceptibility gene product, mediates rhinovirus C binding and replication". Proceedings of the National Academy of Sciences of the United States of America. 112 (17): 5485–90. Bibcode:2015PNAS..112.5485B. doi:10.1073/pnas.1421178112. PMC 4418890. PMID 25848009.
  5. ↑ 5.0 5.1 Husby A, Pasanen A, Waage J, Sevelsted A, Hodemaekers H, Janssen R, et al. (November 2017). "CDHR3 gene variation and childhood bronchiolitis". The Journal of Allergy and Clinical Immunology. 140 (5): 1469–1471.e7. doi:10.1016/j.jaci.2017.06.044. PMC 5675819. PMID 28782631.
  6. ↑ Montoro DT, Haber AL, Biton M, Vinarsky V, Lin B, Birket SE, et al. (August 2018). "A revised airway epithelial hierarchy includes CFTR-expressing ionocytes". Nature. 560 (7718): 319–324. doi:10.1038/s41586-018-0393-7. PMID 30069044.
  7. ↑ Ordovas-Montanes J, Dwyer DF, Nyquist SK, Buchheit KM, Vukovic M, Deb C, et al. (August 2018). "Allergic inflammatory memory in human respiratory epithelial progenitor cells". Nature. 560 (7720): 649–654. doi:10.1038/s41586-018-0449-8. PMC 6133715. PMID 30135581.
  8. ↑ Chang EH, Willis AL, McCrary HC, Noutsios GT, Le CH, Chiu AG, et al. (June 2017). "Association between the CDHR3 rs6967330 risk allele and chronic rhinosinusitis". The Journal of Allergy and Clinical Immunology. 139 (6): 1990–1992.e2. doi:10.1016/j.jaci.2016.10.027. PMC 5457723. PMID 27923563.

Further reading

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