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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes Human disease related genes
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
10
Cytoband
q22.1
Chromosome location (bp)
71396920 - 71815947
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells. CDH23 is required for establishing and/or maintaining the proper organization of the stereocilia bundle of hair cells in the cochlea and the vestibule during late embryonic/early postnatal development. It is part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal hearing....show less
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
Calcium, Metal-binding
Gene summary (Entrez)i
Useful information about the gene from Entrez
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. [provided by RefSeq, May 2013]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Endocrine and metabolic diseases Hypothalamus and pituitary gland diseases Adrenal gland diseases Nervous system diseases Eye disease Ear disease
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Endocrine and metabolic diseases Hypothalamus and pituitary gland diseases Adrenal gland diseases Nervous system diseases Eye disease Ear disease
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Endocrine and metabolic diseases Hypothalamus and pituitary gland diseases Adrenal gland diseases Nervous system diseases Eye disease Ear disease
Show all
GO:0005509[calcium ion binding] GO:0007156[homophilic cell adhesion via plasma membrane adhesion molecules] GO:0007605[sensory perception of sound] GO:0007626[locomotory behavior] GO:0016020[membrane] GO:0032420[stereocilium] GO:0060122[inner ear receptor cell stereocilium organization]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Endocrine and metabolic diseases Hypothalamus and pituitary gland diseases Adrenal gland diseases Nervous system diseases Eye disease Ear disease
The Human Protein Atlas project is funded
