Statements (24)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeSplicing |
yes
|
| gptkbp:associatedWith |
protein transport
intellectual disability (rare variants) |
| gptkbp:component |
gptkb:AP-2_adaptor_complex
|
| gptkbp:encodes |
AP-2 complex subunit beta
|
| gptkbp:Entrez_Gene_ID |
gptkb:ENSG00000141424
163 |
| gptkbp:expressedIn |
various tissues
|
| gptkbp:function |
clathrin-mediated endocytosis
|
| gptkbp:geneType |
protein-coding
|
| https://www.w3.org/2000/01/rdf-schema#label |
AP2B1
|
| gptkbp:interactsWith |
gptkb:clathrin
gptkb:AP2A1 gptkb:AP2M1 gptkb:AP2S1 |
| gptkbp:locatedOnChromosome |
17q12-q21
|
| gptkbp:OMIM |
601241
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
Ap2b1
|
| gptkbp:UniProtID |
Q96CW1
|
| gptkbp:bfsParent |
gptkb:AP-2_complex
gptkb:AP2_complex |
| gptkbp:bfsLayer |
8
|