Gene table of SH2B3 : SH2B adaptor protein 3

Gene-disease associations table

Disease IDDisease nameSource of annotation with SH2B3OMIM linkNumber of associated genesgenes
254450MYELOFIBROSISOMIM link to OMIM 4SH2B3, JAK2, MPL, CALR
PS187950THROMBOCYTHEMIAClinVar, OMIM link to OMIM 5SH2B3, JAK2, MPL, THPO, CALR
PS133100ERYTHROCYTOSIS, FAMILIALClinVar, OMIM link to OMIM 6VHL, EPAS1, JAK2, SH2B3, EPOR, EGLN1

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Annotation of the gene SH2B3

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
Neurotrophin signaling pathwayhsa047225.78
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Factors involved in megakaryocyte development and platelet productionR-HSA-9832315.88
Regulation of KIT signalingR-HSA-14335598.98
HemostasisR-HSA-1095823.98
Signal TransductionR-HSA-1625821.78
Signaling by SCF-KITR-HSA-14335574.73
Associated GO terms for Molecular function
GO termGO IDGO IC
signal transducer activityGO:00048712.28
signaling adaptor activityGO:00355915.43
bindingGO:00054880.18
protein bindingGO:00055150.46
binding, bridgingGO:00600904.57