AMPH


Summary: This gene encodes a protein associated with the cytoplasmic surface of synaptic vesicles. A subset of patients with stiff-man syndrome who were also affected by breast cancer are positive for autoantibodies against this protein. Alternate splicing of this gene results in two transcript variants encoding different isoforms. Additional splice variants have been described, but their full length sequences have not been determined. A pseudogene of this gene is found on chromosome 11.[provided by RefSeq, Nov 2010].

NameOMIM IDEnsembl IDHGNC IDPHARMGKB IDMap Location
amphiphysinMIM:600418Ensembl:ENSG00000078053HGNC:HGNC:471PA247797p14.1

GO terms in AMPH


Term TypeEvidence TypeGO Term IDGO Des.
MFIPIGO:0005515protein binding
MFIDAGO:0005543phospholipid binding
CCTASGO:0005829cytosol
CCTASGO:0008021synaptic vesicle
CCTASGO:0015629actin cytoskeleton
CCIEAGO:0030054cell junction
CCIEAGO:0030672synaptic vesicle membrane
CCIDAGO:0031256leading edge membrane
BPTASGO:0006897endocytosis
BPTASGO:0007268chemical synaptic transmission
BPTASGO:0061024membrane organization

Gene expression in normal tissue: AMPH

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in AMPH


DatabasePathway IDPathway Des.
kegghsa04144Endocytosis - Homo sapiens (human)
kegghsa04666Fc gamma R-mediated phagocytosis - Homo sapiens (human)
piderbb1_internalization_pathwayInternalization of ErbB1
wikipathwaysWP727Monoamine Transport
reactomeR-HSA-199991Membrane Trafficking
reactomeR-HSA-5653656Vesicle-mediated transport
reactomeR-HSA-8856828Clathrin-mediated endocytosis

Gene-Drug: Aster Plot


Drug IDDrug NameModel Num.
iGMDRD399Selumetinib1
iGMDRD353PD03259011
iGMDRD30917AAG1

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in AMPH

​​​​