Gene: CDH23
Alternate names for this Gene: CDHR23|PITA5|USH1D
Gene Summary: This gene is a member of the cadherin superfamily, whose genes encode calcium dependent cell-cell adhesion glycoproteins. The encoded protein is thought to be involved in stereocilia organization and hair bundle formation. 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 cadherin-like gene. Upregulation of this gene may also be associated with breast cancer. Alternative splice variants encoding different isoforms have been described.
Gene is located in Chromosome: 10
Location in Chromosome : 10q22.1
Description of this Gene: cadherin related 23
Type of Gene: protein-coding
Gene: MIR7152
Alternate names for this Gene: hsa-mir-7152
Gene Summary: microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop.
Gene is located in Chromosome: 10
Location in Chromosome : 10q22.1
Description of this Gene: microRNA 7152
Type of Gene: ncRNA
rs11592462 in
CDH23;MIR7152 gene and
Blood Protein Measurement
PMID 29875488 2018 Genomic atlas of the human plasma proteome.
rs121908348 in
CDH23;MIR7152 gene and
Deafness, Autosomal Recessive 12
PMID 16679490 2006 Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%.
PMID 22899989 2012 Prevalence and clinical features of hearing loss patients with CDH23 mutations: a large cohort study.
PMID 24767429 2014 Identification of CDH23 mutations in Korean families with hearing loss by whole-exome sequencing.
PMID 17850630 2007 Distribution and frequencies of CDH23 mutations in Japanese patients with non-syndromic hearing loss.
PMID 11090341 2001 Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23.
PMID 12522556 2003 Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family.
PMID 12075507 2002 CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness.
PMID 15829536 2005 Modification of human hearing loss by plasma-membrane calcium pump PMCA2.