SEZ6
Summary: The protein encoded by this gene is thought to contain five cysteine-rich motifs that are similar to sushi domains, as well as two domains similar to the amino terminal half of the CUB (for complement C1r/C1s, Uegf, Bmp1) domain. Mutations in this gene have been associated with febrile seizures. [provided by RefSeq, Jul 2016].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
---|---|---|---|---|---|
seizure related 6 homolog | MIM:616666 | Ensembl:ENSG00000063015 | HGNC:HGNC:15955 | PA38065 | 17q11.2 |
GO terms in SEZ6
Term Type | Evidence Type | GO Term ID | GO Des. |
---|---|---|---|
BP | IEA | GO:0008344 | adult locomotory behavior |
BP | IEA | GO:0021680 | cerebellar Purkinje cell layer development |
BP | IEA | GO:0060074 | synapse maturation |
BP | IEA | GO:0060079 | excitatory postsynaptic potential |
BP | IEA | GO:0090036 | regulation of protein kinase C signaling |
BP | IEA | GO:1900006 | positive regulation of dendrite development |
BP | IEA | GO:2000171 | negative regulation of dendrite development |
CC | IEA | GO:0005615 | extracellular space |
CC | IEA | GO:0005783 | endoplasmic reticulum |
CC | IEA | GO:0005886 | plasma membrane |
CC | IEA | GO:0016021 | integral component of membrane |
CC | IEA | GO:0043025 | neuronal cell body |
CC | IEA | GO:0043197 | dendritic spine |
CC | IEA | GO:0043198 | dendritic shaft |
CC | IEA | GO:0048471 | perinuclear region of cytoplasm |
CC | IEA | GO:0097440 | apical dendrite |
Gene expression in normal tissue: SEZ6
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in SEZ6
Database | Pathway ID | Pathway Des. |
---|
Gene-Drug: Aster Plot
Drug ID | Drug Name | Model Num. |
---|---|---|
iGMDRD399 | Selumetinib | 1 |
iGMDRD353 | PD0325901 | 1 |
iGMDRD309 | 17AAG | 2 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in SEZ6