Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:associatedWith |
familial hypocalciuric hypercalcemia type 3
|
| gptkbp:biologicalProcess |
endocytosis
protein binding |
| gptkbp:cellularComponent |
gptkb:cytoplasm
gptkb:clathrin-coated_vesicle |
| gptkbp:encodes |
AP-2 complex subunit sigma
|
| gptkbp:Entrez_Gene_ID |
1175
|
| gptkbp:expressedIn |
various tissues
|
| gptkbp:function |
component of adaptor protein complex 2
|
| gptkbp:HGNC_ID |
HGNC:564
|
| https://www.w3.org/2000/01/rdf-schema#label |
AP2S1
|
| gptkbp:involvedIn |
clathrin-mediated endocytosis
|
| gptkbp:length |
142 amino acids
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_19
|
| gptkbp:mutationAssociatedWith |
gptkb:hypercalcemia
|
| gptkbp:OMIM |
602242
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
Ap2s1
|
| gptkbp:UniProtID |
Q96CW1
|
| gptkbp:bfsParent |
gptkb:AP-2_complex
gptkb:AP2_complex |
| gptkbp:bfsLayer |
8
|