| URN | urn:agi-llid:7397 |
|---|---|
| Total Entities | 0 |
| Connectivity | 39 |
| Name | Pcdh15 |
| Description | protocadherin-related 15 |
| Notes | This gene is a member of the cadherin superfamily. Family members encode integral membrane proteins that mediate calcium-dependent cell-cell adhesion. It plays an essential role in maintenance of normal retinal and cochlear function. Mutations in this gene result in hearing loss and Usher Syndrome Type IF (USH1F). Extensive alternative splicing resulting in multiple isoforms has been observed in the mouse ortholog. Similar alternatively spliced transcripts are inferred to occur in human, and additional variants are likely to occur. [provided by RefSeq, Dec 2008] |
| Ariadne Ontology | Secreted proteins |
|---|
| GO Molecular Function | calcium ion binding |
|---|
| GO Cellular Component | membrane |
|---|---|
| extracellular region | |
| synapse | |
| stereocilium | |
| integral to membrane | |
| plasma membrane | |
| cytoplasm | |
| photoreceptor outer segment | |
| extracellular space |
| GO Biological Process | cell adhesion |
|---|---|
| auditory receptor cell differentiation | |
| homophilic cell adhesion | |
| actin filament organization | |
| nonmotile primary cilium assembly | |
| auditory receptor cell stereocilium organization | |
| startle response | |
| detection of mechanical stimulus involved in equilibrioception | |
| detection of mechanical stimulus involved in sensory perception of sound | |
| righting reflex | |
| locomotory behavior | |
| adult locomotory behavior | |
| adult walking behavior | |
| inner ear development | |
| morphogenesis of an epithelium | |
| multicellular organism growth | |
| equilibrioception | |
| sensory perception of light stimulus | |
| visual perception | |
| sensory perception of sound | |
| photoreceptor cell maintenance |
| Pathway | auditory mechanotransduction pathway |
|---|
| Group | cell adhesion |
|---|---|
| auditory receptor cell differentiation | |
| homophilic cell adhesion | |
| actin filament organization | |
| nonmotile primary cilium assembly | |
| auditory receptor cell stereocilium organization | |
| startle response | |
| detection of mechanical stimulus involved in equilibrioception | |
| detection of mechanical stimulus involved in sensory perception of sound | |
| righting reflex | |
| locomotory behavior | |
| adult locomotory behavior | |
| adult walking behavior | |
| inner ear development | |
| morphogenesis of an epithelium | |
| multicellular organism growth | |
| equilibrioception | |
| sensory perception of light stimulus | |
| visual perception | |
| sensory perception of sound | |
| photoreceptor cell maintenance | |
| calcium ion binding | |
| membrane | |
| extracellular region | |
| synapse | |
| stereocilium | |
| integral to membrane | |
| plasma membrane | |
| cytoplasm | |
| photoreceptor outer segment | |
| extracellular space | |
| Secreted proteins |
| MedScan ID | 7397 |
|---|---|
| 616468 |
| Hugo ID | 14674 |
|---|
| Human chromosome position | 10q21.1 |
|---|
| LocusLink ID | 7397 |
|---|---|
| 65217 | |
| 11994 | |
| 690865 | |
| 687745 |
| Alias | USH1F |
|---|---|
| CDHR15 | |
| DFNB23 | |
| RP11-449J3.2 | |
| protocadherin-15 | |
| cadherin-related family member 15 | |
| av | |
| nmf19 | |
| Gm9815 | |
| BB078305 | |
| ENSMUSG00000046980 | |
| Ames waltzer | |
| protocadherin 15 CD2 | |
| protocadherin 15 CD3 isoform | |
| OTTMUSP00000023315 | |
| Usher syndrome 1F | |
| OTTMUSP00000023309 | |
| OTTMUSP00000023307 | |
| OTTMUSP00000023311 | |
| OTTMUSP00000023312 | |
| Usher syndrome 1F (autosomal recessive, severe) | |
| OTTMUSP00000023313 | |
| OTTHUMP00000199503 | |
| OTTMUSP00000023314 | |
| OTTMUSP00000038477 | |
| PCDH15 | |
| protocadherin 15 | |
| protocadherin 15, Ames waltzer | |
| protocadherin-15-CD1 | |
| protocadherin-15-CD2 | |
| protocadherin-related 15 | |
| OTTHUMP00000185553 | |
| OTTHUMP00000019624 | |
| deafness, autosomal recessive 23 | |
| DKFZp667a1711 | |
| OTTHUMP00000185546 | |
| OTTHUMP00000185548 | |
| OTTHUMP00000185549 | |
| OTTHUMP00000185545 | |
| OTTHUMP00000019623 | |
| LOC623239 | |
| LOC546479 | |
| LOC432471 | |
| LOC687745 |
| Organism | Homo sapiens |
|---|---|
| Mus musculus | |
| Rattus norvegicus |
| OMIM ID | 605514 |
|---|---|
| 609533 | |
| 601067 | |
| 602083 |
| Unigene ID | Hs.280209 |
|---|---|
| Mm.338933 | |
| Mm.490709 |
| KEGG ID | hsa:65217 |
|---|---|
| mmu:11994 | |
| rno:690865 |
| Swiss-Prot Accession | A2A3E7 |
|---|---|
| A2A3E6 | |
| E7EMG0 | |
| A2A3E3 | |
| A2A3E8 | |
| Q96QU1 | |
| E9Q7R2 | |
| Q0ZM37 | |
| Q3UTS7 | |
| F6Y0A5 | |
| Q0ZM35 | |
| F7DFU0 | |
| Q0ZM33 | |
| F7ASH0 | |
| Q0ZM32 | |
| F6RBV2 | |
| Q0ZM31 | |
| E9Q7D7 | |
| Q0ZM30 | |
| F6YP25 | |
| Q0ZM29 | |
| F6R5Z7 | |
| Q0ZM28 | |
| F7D5J8 | |
| Q0ZM27 | |
| H3BKS0 | |
| Q0ZM20 | |
| Q0ZM16 | |
| F6WUN7 | |
| Q0ZM19 | |
| F8VQ61 | |
| Q99PJ1 | |
| A6NL19 | |
| Q5VY38 | |
| Q5VY39 | |
| Q6TRH8 | |
| Q8NDB9 | |
| Q96QT8 | |
| E9Q7R1 |
| GO ID | 0005509 |
|---|---|
| 0050957 | |
| 0007156 | |
| 0045494 | |
| 0050953 | |
| 0007605 | |
| 0005576 | |
| 0005615 | |
| 0016021 | |
| 0001750 | |
| 0005886 | |
| 0032420 | |
| 0045202 | |
| 0007015 | |
| 0008344 | |
| 0007628 | |
| 0042491 | |
| 0060088 | |
| 0007155 | |
| 0050973 | |
| 0050910 | |
| 0048839 | |
| 0007626 | |
| 0002009 | |
| 0035264 | |
| 0035058 | |
| 0060013 | |
| 0001964 | |
| 0007601 | |
| 0005737 | |
| 0016020 |
| Swiss-Prot ID | PCD15_HUMAN |
|---|---|
| PCD15_MOUSE |
| Cell Localization | Cell membrane |
|---|---|
| Secreted |
| IPI ID | IPI00290035 |
|---|---|
| IPI00513908 | |
| IPI00646069 | |
| IPI00121093 |
| Mouse chromosome position | 10 40.2 cM |
|---|
| Rat chromosome position | 20p12 |
|---|
| Homologene ID | 23401 |
|---|
| MGI ID | 1891428 |
|---|
| RGD ID | 1590969 |
|---|