CDH23
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesCDH23, CDHR23, USH1D, cadherin-related 23, cadherin related 23, PITA5
External IDsOMIM: 605516 MGI: 1890219 HomoloGene: 11142 GeneCards: CDH23
Orthologs
SpeciesHumanMouse
Entrez

64072

22295

Ensembl

ENSG00000107736

ENSMUSG00000012819

UniProt

Q9H251
Q6P152

Q99PF4

RefSeq (mRNA)

NM_001252635
NM_023370

RefSeq (protein)

NP_001239564
NP_075859

Location (UCSC)Chr 10: 71.4 – 71.82 MbChr 10: 60.14 – 60.53 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Cadherin-23 is a protein that in humans is encoded by the CDH23 gene.[5][6][7]

Function

This gene is a member of the cadherin superfamily, genes encoding calcium dependent cell-cell adhesion glycoproteins. The protein encoded by this gene is a large, single-pass transmembrane protein composed of an extracellular domain containing 27 repeats that show significant homology to the cadherin ectodomain. Expressed in the neurosensory epithelium, the protein is thought to be involved in stereocilia organization and hair bundle formation. Specifically, it is thought to interact with protocadherin 15 to form tip-link filaments.[8]

Clinical significance

The gene is located in a region containing the human deafness loci DFNB12 and USH1D. Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of this novel cadherin-like gene.[7][9] The gene is associated with kidney function decline.[10]

Interactions

CDH23 has been shown to interact with USH1C.[11][12]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000107736 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000012819 - 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. ^ Bolz H, von Brederlow B, Ramírez A, Bryda EC, Kutsche K, Nothwang HG, Seeliger M, del C-Salcedó Cabrera M, Vila MC, Molina OP, Gal A, Kubisch C (2001). "Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D". Nature Genetics. 27 (1): 108–12. doi:10.1038/83667. PMID 11138009. S2CID 30614281.
  6. ^ Bork JM, Peters LM, Riazuddin S, Bernstein SL, Ahmed ZM, Ness SL, Polomeno R, Ramesh A, Schloss M, Srisailpathy CR, Wayne S, Bellman S, Desmukh D, Ahmed Z, Khan SN, Kaloustian VM, Li XC, Lalwani A, Riazuddin S, Bitner-Glindzicz M, Nance WE, Liu XZ, Wistow G, Smith RJ, Griffith AJ, Wilcox ER, Friedman TB, Morell RJ (2001). "Usher Syndrome 1D and Nonsyndromic Autosomal Recessive Deafness DFNB12 Are Caused by Allelic Mutations of the Novel Cadherin-Like Gene CDH23". The American Journal of Human Genetics. 68 (1): 26–37. doi:10.1086/316954. PMC 1234923. PMID 11090341.
  7. ^ a b EntrezGene 64072
  8. ^ Kazmierczak P, Sakaguchi H, Tokita J, Wilson-Kubalek EM, Milligan RA, Müller U, Kachar B (2007). "Cadherin 23 and protocadherin 15 interact to form tip-link filaments in sensory hair cells". Nature. 449 (7158): 87–91. Bibcode:2007Natur.449...87K. doi:10.1038/nature06091. PMID 17805295. S2CID 4414814.
  9. ^ Woo HM, Park HJ, Park MH, Kim BY, Shin JW, Yoo WG, Koo SK (2014). "Identification of CDH23 mutations in Korean families with hearing loss by whole-exome sequencing". BMC Medical Genetics. 15 (1): 46. doi:10.1186/1471-2350-15-46. PMC 4036425. PMID 24767429.
  10. ^ Gorski M, Tin A, Garnaas M, et al. (2015). "Genome-wide association study of kidney function decline in individuals of European descent". Kidney Int. 87 (5): 1017–29. doi:10.1038/ki.2014.361. PMC 4425568. PMID 25493955.
  11. ^ Boëda B, El-Amraoui A, Bahloul A, Goodyear R, Daviet L, Blanchard S, Perfettini I, Fath KR, Shorte S, Reiners J, Houdusse A, Legrain P, Wolfrum U, Richardson G, Petit C (2002). "Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle". The EMBO Journal. 21 (24): 6689–99. doi:10.1093/emboj/cdf689. PMC 139109. PMID 12485990.
  12. ^ Siemens J, Kazmierczak P, Reynolds A, Sticker M, Littlewood-Evans A, Müller U (2002). "The Usher syndrome proteins cadherin 23 and harmonin form a complex by means of PDZ-domain interactions". Proceedings of the National Academy of Sciences. 99 (23): 14946–51. Bibcode:2002PNAS...9914946S. doi:10.1073/pnas.232579599. PMC 137525. PMID 12407180.

Further reading

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