Homo sapiens Protein: SH2B3
Summary
InnateDB Protein IDBP-57460.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SH2B3
Protein Name SH2B adaptor protein 3
Synonyms IDDM20; LNK;
Species Homo sapiens
Ensembl Protein ENSP00000345492
InnateDB Gene IDBG-57458 (SH2B3)
Protein Structure
UniProt Annotation
Function Links T-cell receptor activation signal to phospholipase C-gamma-1, GRB2 and phosphatidylinositol 3-kinase. {ECO:0000250}.
Subcellular Localization
Disease Associations Celiac disease 13 (CELIAC13) [MIM:612011]: A multifactorial, chronic disorder of the small intestine caused by intolerance to gluten. It is characterized by immune-mediated enteropathy associated with failed intestinal absorption, and malnutrition. In predisposed individuals, the ingestion of gluten- containing food such as wheat and rye induces a flat jejunal mucosa with infiltration of lymphocytes. {ECO:0000269PubMed:18311140}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.Diabetes mellitus, insulin-dependent (IDDM) [MIM:222100]: A multifactorial disorder of glucose homeostasis that is characterized by susceptibility to ketoacidosis in the absence of insulin therapy. Clinical features are polydipsia, polyphagia and polyuria which result from hyperglycemia-induced osmotic diuresis and secondary thirst. These derangements result in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. {ECO:0000269PubMed:17554260}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
Tissue Specificity Preferentially expressed by lymphoid cell lines.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 10 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 10 [view]
Protein-Protein 10 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0004871 signal transducer activity
GO:0005515 protein binding
GO:0032403 protein complex binding
GO:0042301 phosphate ion binding
Biological Process
GO:0007596 blood coagulation
GO:0030097 hemopoiesis
GO:0030154 cell differentiation
GO:0035162 embryonic hemopoiesis
GO:0035556 intracellular signal transduction
Cellular Component
GO:0005829 cytosol
Protein Structure and Domains
PDB ID
InterPro IPR000980 SH2 domain
IPR001849 Pleckstrin homology domain
IPR015012 Phenylalanine zipper
PFAM PF00017
PF14633
PF00169
PF08916
PRINTS PR00401
PIRSF
SMART SM00252
SM00233
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9UQQ2
PhosphoSite PhosphoSite-Q9UQQ2
TrEMBL
UniProt Splice Variant
Entrez Gene 10019
UniGene Hs.619400
RefSeq NP_005466
HUGO HGNC:29605
OMIM 605093
CCDS CCDS9153
HPRD 05480
IMGT
EMBL AF055581 AJ012793 BC136451 CH471054
GenPept AAC71695 AAI36452 CAB42642 EAW97955