Homo sapiens Protein: SH2B3 | |||||||||||||||||||||||
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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.
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Gene Ontology | |||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||||||
PDB ID | |||||||||||||||||||||||
InterPro |
IPR000980
SH2 domain IPR001849 Pleckstrin homology domain IPR015012 Phenylalanine zipper |
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PFAM |
PF00017
PF14633 PF00169 PF08916 |
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PRINTS |
PR00401
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PIRSF | |||||||||||||||||||||||
SMART |
SM00252
SM00233 |
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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 | ||||||||||||||||||||||