SYP
Summary: This gene encodes an integral membrane protein of small synaptic vesicles in brain and endocrine cells. The protein also binds cholesterol and is thought to direct targeting of vesicle-associated membrane protein 2 (synaptobrevin) to intracellular compartments. Mutations in this gene are associated with an X-linked form of cognitive disability. [provided by RefSeq, Jul 2017].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| synaptophysin | MIM:313475 | Ensembl:ENSG00000102003 | HGNC:HGNC:11506 | PA36288 | Xp11.23 |
Gene Categories:
TRANSPORTERGO terms in SYP
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | ISS | GO:0006897 | endocytosis |
| BP | NAS | GO:0016188 | synaptic vesicle maturation |
| BP | IBA | GO:0048168 | regulation of neuronal synaptic plasticity |
| BP | ISS | GO:0048169 | regulation of long-term neuronal synaptic plasticity |
| BP | ISS | GO:0048172 | regulation of short-term neuronal synaptic plasticity |
| BP | IEA | GO:0048488 | synaptic vesicle endocytosis |
| BP | NAS | GO:0048499 | synaptic vesicle membrane organization |
| BP | IEA | GO:0071310 | cellular response to organic substance |
| BP | ISS | GO:2000474 | regulation of opioid receptor signaling pathway |
| CC | ISS | GO:0008021 | synaptic vesicle |
| CC | IEA | GO:0030054 | cell junction |
| CC | NAS | GO:0030285 | integral component of synaptic vesicle membrane |
| CC | IEA | GO:0031594 | neuromuscular junction |
| CC | IEA | GO:0042734 | presynaptic membrane |
| CC | ISS | GO:0043005 | neuron projection |
| CC | IEA | GO:0043195 | terminal bouton |
| CC | IEA | GO:0048786 | presynaptic active zone |
| CC | IEA | GO:0060076 | excitatory synapse |
| MF | IDA | GO:0015485 | cholesterol binding |
| MF | IEA | GO:0042169 | SH2 domain binding |
| MF | IEA | GO:0042802 | identical protein binding |
| MF | TAS | GO:0043621 | protein self-association |
Gene expression in normal tissue: SYP
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in SYP
CLASSFICATION
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