Cadherin related family member 3
| CDHR3 | |||
|---|---|---|---|
| Identifiers | |||
Gene ontology | |||
| Molecular function | |||
| Cellular component | |||
| Biological process |
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| Sources:Amigo / QuickGO | |||
Ensembl | |||||||||
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| UniProt | |||||||||
| RefSeq (mRNA) | |||||||||
| RefSeq (protein) | |||||||||
| Location (UCSC) | Chr 7: 105.88 – 106.04 Mb | Chr 12: 33.08 – 33.14 Mb | |||||||
| PubMed search | [3] | [4] | |||||||
| View/Edit Human | View/Edit Mouse |
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. [5] The protein is predominately expressed in respiratory epithelium[6] 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.[7] Subsequent studies have suggested that CDHR3 is a receptor for a subtype of rhinovirus.[8][9]
Function and cellular location
The exact
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.[7] A subsequent study found that CDHR3 is a probable receptor for rhinovirus type C, a common form of rhinovirus.[8]
Recent studies furthermore found that CDHR3 gene variation is not associated with childhood
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000128536 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000035860 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Entrez Gene: Cadherin related family member 3". Retrieved 2017-09-05.
- ^ "Tissue expression of CDHR3 - Summary - The Human Protein Atlas". www.proteinatlas.org. Retrieved 2017-09-05.
- ^ S2CID 20754856.
- ^ PMID 25848009.
- ^ PMID 28782631.
- PMID 30069044.
- PMID 30135581.
- PMID 27923563.
Further reading
- 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. S2CID 20754856.
- Bochkov YA, Watters K, Ashraf S, Griggs TF, Devries MK, Jackson DJ, Palmenberg AC, Gern JE (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. PMID 25848009.
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