C-jun-amino-terminal kinase-interacting protein 2 is a protein or the name of the gene that encodes it.[1][2] The gene is also known as Islet-Brain-2 (IB2).
This protein is highly expressed in the brain and is almost always deleted in Phelan-McDermid syndrome (PMS). MAPK8IP2 appears to regulate the ratio of AMPA receptors to NMDA receptors at glutamate synapses,[3] and thus may be an important contributor to the intellectual dysfunction and related neurological manifestations characteristic of PMS.
The protein encoded by this gene is closely related to MAPK8IP1/IB1/JIP-1, a scaffold protein that is involved in the c-Jun amino-terminal kinase signaling pathway. This protein is expressed in brain and pancreatic cells. It has been shown to interact with, and regulate the activity of MAPK8/JNK1, and MAP2K7/MKK7 kinases. This protein thus is thought to function as a regulator of signal transduction by protein kinase cascade in brain and pancreatic beta-cells. Alternatively spliced transcript variants encoding distinct isoforms have been reported for this gene.[2]
↑ 4.04.1Gotthardt, M; Trommsdorff M; Nevitt M F; Shelton J; Richardson J A; Stockinger W; Nimpf J; Herz J (August 2000). "Interactions of the low density lipoprotein receptor gene family with cytosolic adaptor and scaffold proteins suggest diverse biological functions in cellular communication and signal transduction". J. Biol. Chem. UNITED STATES. 275 (33): 25616–24. doi:10.1074/jbc.M000955200. ISSN0021-9258. PMID10827173.
↑Petersen, Helle Heibroch; Hilpert Jan; Militz Daniel; Zandler Valerie; Jacobsen Christian; Roebroek Anton J M; Willnow Thomas E (February 2003). "Functional interaction of megalin with the megalinbinding protein (MegBP), a novel tetratrico peptide repeat-containing adaptor molecule". J. Cell Sci. England. 116 (Pt 3): 453–61. doi:10.1242/jcs.00243. ISSN0021-9533. PMID12508107.
↑Negri, S; Oberson A; Steinmann M; Sauser C; Nicod P; Waeber G; Schorderet D F; Bonny C (March 2000). "cDNA cloning and mapping of a novel islet-brain/JNK-interacting protein". Genomics. UNITED STATES. 64 (3): 324–30. doi:10.1006/geno.2000.6129. ISSN0888-7543. PMID10756100.
Further reading
Andersson B, Wentland MA, Ricafrente JY, et al. (1996). "A "double adaptor" method for improved shotgun library construction". Anal. Biochem. 236 (1): 107–13. doi:10.1006/abio.1996.0138. PMID8619474.
Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID8889548.
Negri S, Oberson A, Steinmann M, et al. (2000). "cDNA cloning and mapping of a novel islet-brain/JNK-interacting protein". Genomics. 64 (3): 324–30. doi:10.1006/geno.2000.6129. PMID10756100.
Gotthardt M, Trommsdorff M, Nevitt MF, et al. (2000). "Interactions of the low density lipoprotein receptor gene family with cytosolic adaptor and scaffold proteins suggest diverse biological functions in cellular communication and signal transduction". J. Biol. Chem. 275 (33): 25616–24. doi:10.1074/jbc.M000955200. PMID10827173.
Taru H, Kirino Y, Suzuki T (2002). "Differential roles of JIP scaffold proteins in the modulation of amyloid precursor protein metabolism". J. Biol. Chem. 277 (30): 27567–74. doi:10.1074/jbc.M203713200. PMID12023290.