| URN | urn:agi-llid:1704 |
|---|---|
| Total Entities | 0 |
| Connectivity | 63 |
| Name | Cdh23 |
| Description | cadherin-related 23 |
| Notes | 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. Alternative splice variants encoding different isoforms have been described. [provided by RefSeq, Jan 2010] |
| Ariadne Ontology | Adherens junction assembly |
|---|---|
| Biofluids assayable substances |
| GO Molecular Function | calcium ion binding |
|---|
| GO Cellular Component | membrane |
|---|---|
| synapse | |
| stereocilium | |
| stereocilium bundle tip | |
| microtubule basal body | |
| integral to membrane | |
| plasma membrane | |
| photoreceptor inner segment | |
| cilium |
| GO Biological Process | response to stimulus |
|---|---|
| cell adhesion | |
| auditory receptor cell differentiation | |
| calcium-dependent cell-cell adhesion | |
| homophilic cell adhesion | |
| cytosolic calcium ion homeostasis | |
| auditory receptor cell stereocilium organization | |
| detection of mechanical stimulus involved in sensory perception of sound | |
| righting reflex | |
| locomotory behavior | |
| adult locomotory behavior | |
| inner ear morphogenesis | |
| inner ear development | |
| post-embryonic organ morphogenesis | |
| equilibrioception | |
| sensory perception of light stimulus | |
| sensory perception of sound | |
| calcium ion transport | |
| photoreceptor cell maintenance |
| Pathway | auditory mechanotransduction pathway |
|---|
| Group | Adherens junction assembly |
|---|---|
| response to stimulus | |
| cell adhesion | |
| auditory receptor cell differentiation | |
| calcium-dependent cell-cell adhesion | |
| homophilic cell adhesion | |
| cytosolic calcium ion homeostasis | |
| auditory receptor cell stereocilium organization | |
| detection of mechanical stimulus involved in sensory perception of sound | |
| righting reflex | |
| locomotory behavior | |
| adult locomotory behavior | |
| inner ear morphogenesis | |
| inner ear development | |
| post-embryonic organ morphogenesis | |
| equilibrioception | |
| sensory perception of light stimulus | |
| sensory perception of sound | |
| calcium ion transport | |
| photoreceptor cell maintenance | |
| calcium ion binding | |
| membrane | |
| synapse | |
| stereocilium | |
| stereocilium bundle tip | |
| microtubule basal body | |
| integral to membrane | |
| plasma membrane | |
| photoreceptor inner segment | |
| cilium | |
| Biofluids assayable substances |
| MedScan ID | 1704 |
|---|
| Hugo ID | 13733 |
|---|
| Human chromosome position | 10q22.1 |
|---|
| LocusLink ID | 1704 |
|---|---|
| 64072 | |
| 22295 | |
| 114102 |
| Alias | USH1D |
|---|---|
| CDHR23 | |
| RP11-472K8.4 | |
| cadherin-23 | |
| otocadherin | |
| cadherin-like 23 | |
| cadherin-related family member 23 | |
| v | |
| ahl | |
| bob | |
| bus | |
| ahl1 | |
| mdfw | |
| sals | |
| nmf112 | |
| nmf181 | |
| nmf252 | |
| 4930542A03Rik | |
| bobby | |
| waltzer | |
| bustling | |
| modifier of deaf waddler | |
| age related hearing loss 1 | |
| W | |
| Waltzing | |
| cadherin related 23 | |
| cadherin 23 (otocadherin) | |
| KIAA1812 | |
| LOC360328 | |
| Waltzing phenotype | |
| MGC102761 | |
| OTTHUMP00000020837 | |
| OTTHUMP00000044780 | |
| OTTMUSP00000019116 | |
| Usher syndrome 1D (autosomal recessive, severe) | |
| waltzers | |
| LOC116162 | |
| OTTMUSP00000019115 | |
| bustling protein | |
| LOC497746 | |
| 4930542A03 | |
| age related hearing loss I | |
| ahl I | |
| KIAA1774 | |
| bustling mutation | |
| deafness, autosomal recessive 12 | |
| FLJ36499 | |
| FLJ00233 | |
| DFNB12 | |
| cadherin 23 | |
| CDH23 | |
| DKFZp434P2350 |
| Organism | Homo sapiens |
|---|---|
| Mus musculus | |
| Rattus norvegicus |
| OMIM ID | 605516 |
|---|---|
| 601386 | |
| 601067 |
| Unigene ID | Hs.656032 |
|---|---|
| Mm.440327 | |
| Rn.208796 |
| KEGG ID | hsa:64072 |
|---|---|
| mmu:22295 | |
| rno:114102 |
| Swiss-Prot Accession | Q6P152 |
|---|---|
| Q9H251 | |
| Q8N5B3 | |
| A5D6V9 | |
| Q5QGS6 | |
| Q5QGS1 | |
| Q5QGS5 | |
| Q99PF4 | |
| P58365 | |
| E9QP63 | |
| Q99NH1 | |
| Q9D4N9 | |
| C4IXS9 | |
| F6U049 | |
| Q5QGS2 | |
| Q5XKN2 | |
| Q6UWW1 | |
| Q96JL3 | |
| Q9H4K9 |
| GO ID | 0005509 |
|---|---|
| 0060088 | |
| 0006816 | |
| 0016339 | |
| 0051480 | |
| 0050957 | |
| 0007156 | |
| 0007626 | |
| 0045494 | |
| 0048563 | |
| 0050953 | |
| 0007605 | |
| 0005929 | |
| 0016021 | |
| 0016020 | |
| 0005932 | |
| 0001917 | |
| 0005886 | |
| 0032420 | |
| 0032426 | |
| 0045202 | |
| 0008344 | |
| 0042491 | |
| 0007155 | |
| 0048839 | |
| 0042472 | |
| 0060013 | |
| 0050910 | |
| 0050896 |
| Swiss-Prot ID | CAD23_RAT |
|---|---|
| CAD23_MOUSE | |
| CAD23_HUMAN |
| Cell Localization | Cell membrane |
|---|---|
| Plasma membrane |
| IPI ID | IPI00480591 |
|---|---|
| IPI00120997 | |
| IPI00311743 | |
| IPI00216560 | |
| IPI00216561 | |
| IPI00216562 | |
| IPI00827563 | |
| IPI00872875 | |
| IPI01012113 |
| Mouse chromosome position | 10 30.3 cM |
|---|
| Rat chromosome position | 20q11 |
|---|
| Homologene ID | 11142 |
|---|
| MGI ID | 1890219 |
|---|
| RGD ID | 619760 |
|---|
| Primary Cell Localization | Plasma membrane |
|---|