Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alias |
gptkb:SH2B1
gptkb:SH2B_adapter_protein_1 |
| gptkbp:alternativeSplicing |
yes
|
| gptkbp:associatedWith |
obesity
neurodevelopmental disorders insulin resistance |
| gptkbp:encodes |
gptkb:SH2B_adapter_protein_1
|
| gptkbp:Entrez_Gene_ID |
25970
ENSG00000178568 |
| gptkbp:expressedIn |
gptkb:skeletal_muscle
brain liver adipose tissue |
| gptkbp:function |
regulation of insulin and leptin signaling
|
| gptkbp:HGNC_ID |
HGNC:10871
|
| https://www.w3.org/2000/01/rdf-schema#label |
Sh2b1
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_16
|
| gptkbp:mutationAssociatedWith |
increased risk of obesity
|
| gptkbp:orthologInMouse |
gptkb:Sh2b1
|
| gptkbp:UniProtID |
gptkb:Q9NRF2
|
| gptkbp:bfsParent |
gptkb:SH2B1
|
| gptkbp:bfsLayer |
7
|