|
gptkbp:instanceOf
|
gptkb:protein
|
|
gptkbp:alias
|
gptkb:SH2B-1
gptkb:SH2B-beta
gptkb:SH2B-delta
gptkb:SH2B-gamma
gptkb:SH2B_adapter_protein_1
|
|
gptkbp:alternativeSplicing
|
produces multiple isoforms
|
|
gptkbp:associatedWith
|
gptkb:type_2_diabetes
obesity
insulin resistance
|
|
gptkbp:domain
|
gptkb:PH_domain
SH2 domain
proline-rich region
|
|
gptkbp:encodes
|
gptkb:SH2B_adapter_protein_1
|
|
gptkbp:Entrez_Gene_ID
|
25970
ENSG00000178568
|
|
gptkbp:expressedIn
|
brain
liver
adipose tissue
|
|
gptkbp:function
|
adaptor protein in signal transduction
|
|
gptkbp:gene
|
gptkb:SH2B1
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
SH2B1
|
|
gptkbp:interactsWith
|
gptkb:JAK2
gptkb:insulin_receptor
leptin receptor
|
|
gptkbp:locatedOnChromosome
|
16
|
|
gptkbp:mutationAssociatedWith
|
severe early-onset obesity
|
|
gptkbp:OMIM
|
608937
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
gptkb:Sh2b1
|
|
gptkbp:regulates
|
insulin signaling
growth hormone signaling
leptin signaling
|
|
gptkbp:UniProtID
|
gptkb:Q9NRF2
|
|
gptkbp:bfsParent
|
gptkb:16p11.2
|
|
gptkbp:bfsLayer
|
6
|