PCDH15
Summary: 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].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:605514 Ensembl IDEnsembl:ENSG00000150275 HGNC IDHGNC:HGNC:14674 PHARMGKB IDPA32999 Map Location10q21.1 | |||||
Gene Categories:
DRUGGABLE GENOMEGO terms in PCDH15
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IEA | GO:0005509 | calcium ion binding |
| BP | IBA | GO:0007155 | cell adhesion |
| BP | IEA | GO:0007156 | homophilic cell adhesion via plasma membrane adhesion molecules |
| BP | IBA | GO:0007267 | cell-cell signaling |
| BP | IMP | GO:0007605 | sensory perception of sound |
| BP | IMP | GO:0045494 | photoreceptor cell maintenance |
Gene expression in normal tissue: PCDH15
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in PCDH15
Database | Pathway ID | Pathway Des. |
|---|---|---|
| No matching records found | ||
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in PCDH15
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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