SH3BP2

Le SH3BP2 (« SH3 domain-binding protein 2 ») ou 3BP2 est une protéine adaptatrice dont le gène est le SH3BP2 situé sur le chromosome 4 humain.

Rôles

Il augmente l'expression de l'interleukine 2^[1]. Il se fixe sur le CD19 et permet l'activation des lymphocytes B^[2].

En médecine

Une mutation du gène est responsable du chérubisme, maladie à transmission autosomique dominante^[3].

Notes et références

↑ Deckert M, Tartare-Deckert S, Hernandez J, Rottapel R, Altman A, Adaptor function for the Syk kinases-interacting protein 3BP2 in IL-2 gene activation, Immunity, 1998;9:595–605
↑ Chen G, Dimitriou ID, La Rose J et al. The 3BP2 adapter protein is required for optimal B-cell activation and thymus-independent type 2 humoral response, Mol Cell Biol, 2007;27:3109–3122
↑ Reichenberger EJ, Levine MA, Olsen BR, Papadaki ME, Lietman SA, The role of SH3BP2 in the pathophysiology of cherubism, Orphanet J Rare Dis, 2012;7:S5

v · m Chromosome 4 humain
Gènes	COL25A1 FBXL5 FGFR3 HCL2 HTT/IT15 SLC2A9 SLC4A4 SLC7A11 SLC9B1 SLC9B2 SLC10A4 SLC10A6 SLC10A7 SLC25A4 SLC25A31 SLC26A1 SLC30A9 SLC34A2 SLC39A8 SLC49A3 STATH TMEM165 WFS1
Protéines	3-Hydroxyacyl-CoA-déshydrogénase Ankyrine 2 Caspase 3 Caspase 6 CD117 ETF-déshydrogénase Facteur de croissance épidermique H2AZ Iduronidase Leucyl-aminopeptidase Ostéopontine Phosphoribosylaminoimidazole carboxylase SH3BP2 Translocase ATP/ADP
Maladies liées	Amélogenèse imparfaite Dysplasie de hanche Dystrophie facio-scapulo-humérale Fibrodysplasie ossifiante progressive Hyperphosphatasie alcaline avec retard mental Syndrome de Bardet-Biedl Syndrome de Romano-Ward Polykystose rénale autosomique dominante Dystrophie musculaire des ceintures Maladie génétique du métabolisme des nucléotides Microcéphalie primaire autosomique récessive Pachydermopériostose Syndrome de Kallmann Syndrome d'Ondine Syndrome de Wolf-Hirschhorn Syndrome d'Ellis-Van Creveld Surdité d'origine génétique Achondroplasie Nanisme thanatophore Maladie de Huntington Syndrome de Muenke SADDAN Hypochondroplasie Syndrome de Hurler Fibromatose hyaline juvénile Aspartylglucosaminurie Maladie de Scheie Syndrome d'Alkuraya-Kučinskas

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