Gene table of AP2S1 : adaptor related protein complex 2 sigma 1 subunit

Gene-disease associations table

Disease IDDisease nameSource of annotation with AP2S1OMIM linkNumber of associated genesgenes
PS145980HYPOCALCIURIC HYPERCALCEMIAClinVar, OMIM, HUMSAVAR link to OMIM 3GNA11, AP2S1, CASR

Download the gene annotation in CSV format

Annotation of the gene AP2S1

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST
Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
Synaptic vesicle cyclehsa047216.74
Huntington's diseasehsa050165.17
Endocrine and other factor-regulated calcium reabsorptionhsa049617.12
Endocytosishsa041444.92
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Immune SystemR-HSA-1682562.37
Recycling pathway of L1R-HSA-4372397.62
Trafficking of AMPA receptorsR-HSA-3997198.08
WNT5A-dependent internalization of FZD4R-HSA-50999009.08
The role of Nef in HIV-1 replication and disease pathogenesisR-HSA-1649528.18
Nef-mediates down modulation of cell surface receptors by recruiting them to clathrin adaptersR-HSA-1649388.59
Adaptive Immune SystemR-HSA-12802183.19
DiseaseR-HSA-16436853.33
Host Interactions of HIV factorsR-HSA-1629095.99
Nef Mediated CD4 Down-regulationR-HSA-1675909.81
Signalling by NGFR-HSA-1665204.23
HIV InfectionR-HSA-1629065.22
Signaling by EGFRR-HSA-1779294.59
Developmental BiologyR-HSA-12667383.48
Neuronal SystemR-HSA-1123164.82
Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic CellR-HSA-1123145.85
Transmission across Chemical SynapsesR-HSA-1123155.28
Infectious diseaseR-HSA-56632054.47
Nef Mediated CD8 Down-regulationR-HSA-18221810.18
L1CAM interactionsR-HSA-3737606.19
beta-catenin independent WNT signalingR-HSA-38584945.83
Trafficking of GluR2-containing AMPA receptorsR-HSA-4169938.98
EPH-Ephrin signalingR-HSA-26823346.43
Axon guidanceR-HSA-4224753.93
NGF signalling via TRKA from the plasma membraneR-HSA-1870374.51
Glutamate Binding, Activation of AMPA Receptors and Synaptic PlasticityR-HSA-3997218.08
Signaling by WntR-HSA-1957214.79
EGFR downregulationR-HSA-1829718.28
EPH-ephrin mediated repulsion of cellsR-HSA-39286657.34
PCP/CE pathwayR-HSA-40864006.47
MHC class II antigen presentationR-HSA-21322956.01
Retrograde neurotrophin signallingR-HSA-1775049.28
Signal TransductionR-HSA-1625821.78
Associated GO terms for Molecular function
GO termGO IDGO IC
protein transporter activityGO:00085655.17
protein binding, bridgingGO:00306744.68
substrate-specific transporter activityGO:00228922.72
transporter activityGO:00052152.57
endocytic adaptor activityGO:00987487.54
bindingGO:00054880.18
protein bindingGO:00055150.46
clathrin bindingGO:00302765.55
clathrin adaptor activityGO:00356157.54
binding, bridgingGO:00600904.57