GENE NAME | CAV3 |
CHROMOSOME | 3 |
ENSEMBL ID | ENSG00000182533 |
ENTREZ ID | 859 |
UNIPROT ACCESSION NUMBER | P56539 |
GO MOLECULAR FUNCTION | protein C-terminus binding; transmembrane transporter binding; protein binding; connexin binding; protein-containing complex binding; molecular adaptor activity |
ESSENTIAL IN MOUSE | Non-essential |
PATHWAYS | hsa05205; R-HSA-397014; hsa05020; hsa05100; hsa04510; hsa05418; hsa04144; R-HSA-445355 |
1 combination linked to CAV3 | OLI459 |
1 variant linked to CAV3 | CAV3:c.233C>T, p.Thr78Met |
1 disease linked to CAV3 | Familial long QT syndrome |