C-jun-amino-terminal kinase-interacting protein 2 is a protein or the name of the gene that encodes it.[5][6] 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,[7] 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.[6]
^ abcGRCh38: Ensembl release 89: ENSG00000008735 – Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000022619 – Ensembl, May 2017
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ abcdefgYasuda J, Whitmarsh AJ, Cavanagh J, Sharma M, Davis RJ (February 2000). "The JIP Group of Mitogen-Activated Protein Kinase Scaffold Proteins". Mol Cell Biol. 19 (10): 7245–54. doi:10.1128/mcb.19.10.7245. PMC84717. PMID 10490659.
^ ab"Entrez Gene: MAPK8IP2 mitogen-activated protein kinase 8 interacting protein 2".
^Giza J, et al. (2010). "Behavioral and cerebellar transmission deficits in mice lacking the autism-linked gene islet brain-2". J. Neurosci. 30 (44): 14805–16. doi:10.1523/JNEUROSCI.1161-10.2010. PMC3200367. PMID 21048139.
^ abGotthardt 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. 275 (33): 25616–24. doi:10.1074/jbc.M000955200. ISSN 0021-9258. PMID 10827173.
^Petersen HH, 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. 116 (Pt 3): 453–61. doi:10.1242/jcs.00243. ISSN 0021-9533. PMID 12508107.
^Kelkar N, Gupta S, Dickens M, Davis R J (February 2000). "Interaction of a Mitogen-Activated Protein Kinase Signaling Module with the Neuronal Protein JIP3". Mol. Cell. Biol. 20 (3): 1030–43. doi:10.1128/MCB.20.3.1030-1043.2000. ISSN 0270-7306. PMC85220. PMID 10629060.
^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. 64 (3): 324–30. doi:10.1006/geno.2000.6129. ISSN 0888-7543. PMID 10756100.
Further readingedit
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. PMID 8619474.
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. PMID 8889548.
Dunham I, Shimizu N, Roe BA, et al. (1999). "The DNA sequence of human chromosome 22". Nature. 402 (6761): 489–95. Bibcode:1999Natur.402..489D. doi:10.1038/990031. PMID 10591208.
Kelkar N, Gupta S, Dickens M, Davis RJ (2000). "Interaction of a Mitogen-Activated Protein Kinase Signaling Module with the Neuronal Protein JIP3". Mol. Cell. Biol. 20 (3): 1030–43. doi:10.1128/MCB.20.3.1030-1043.2000. PMC85220. PMID 10629060.
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. PMID 10756100.
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. PMID 10827173.
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. PMID 12023290.
Buchsbaum RJ, Connolly BA, Feig LA (2002). "Interaction of Rac Exchange Factors Tiam1 and Ras-GRF1 with a Scaffold for the p38 Mitogen-Activated Protein Kinase Cascade". Mol. Cell. Biol. 22 (12): 4073–85. doi:10.1128/MCB.22.12.4073-4085.2002. PMC133864. PMID 12024021.
Schoorlemmer J, Goldfarb M (2003). "Fibroblast growth factor homologous factors and the islet brain-2 scaffold protein regulate activation of a stress-activated protein kinase". J. Biol. Chem. 277 (51): 49111–9. doi:10.1074/jbc.M205520200. PMC4266389. PMID 12244047.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC139241. PMID 12477932.
Willoughby EA, Perkins GR, Collins MK, Whitmarsh AJ (2003). "The JNK-interacting protein-1 scaffold protein targets MAPK phosphatase-7 to dephosphorylate JNK". J. Biol. Chem. 278 (12): 10731–6. doi:10.1074/jbc.M207324200. PMID 12524447.
Collins JE, Goward ME, Cole CG, et al. (2003). "Reevaluating Human Gene Annotation: A Second-Generation Analysis of Chromosome 22". Genome Res. 13 (1): 27–36. doi:10.1101/gr.695703. PMC430954. PMID 12529303.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC528928. PMID 15489334.
Kristensen O, Guenat S, Dar I, et al. (2006). "A unique set of SH3–SH3 interactions controls IB1 homodimerization". EMBO J. 25 (4): 785–97. doi:10.1038/sj.emboj.7600982. PMC1383563. PMID 16456539.
This article on a gene on human chromosome 22 is a stub. You can help Wikipedia by expanding it.
mapk8ip2, amino, terminal, kinase, interacting, protein, protein, name, gene, that, encodes, gene, also, known, islet, brain, identifiersaliases, jip2, prkm8ipl, mitogen, activated, protein, kinase, interacting, protein, 2external, idsomim, 607755, 1926555, ho. C jun amino terminal kinase interacting protein 2 is a protein or the name of the gene that encodes it 5 6 The gene is also known as Islet Brain 2 IB2 MAPK8IP2IdentifiersAliasesMAPK8IP2 IB 2 IB2 JIP2 PRKM8IPL mitogen activated protein kinase 8 interacting protein 2External IDsOMIM 607755 MGI 1926555 HomoloGene 8201 GeneCards MAPK8IP2Gene location Human Chr Chromosome 22 human 1 Band22q13 33Start50 600 793 bp 1 End50 613 981 bp 1 Gene location Mouse Chr Chromosome 15 mouse 2 Band15 15 E3Start89 338 116 bp 2 End89 348 671 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed inBrodmann area 10amygdalafrontal polecingulate gyrusdorsolateral prefrontal cortexBrodmann area 9nucleus accumbenspancreatic ductal cellmiddle frontal gyrushippocampus properTop expressed insupraoptic nucleusvisual cortexpontine nucleifacial motor nucleusanterior horn of spinal cordmotor neurontemporal lobecerebellar cortexsuperior frontal gyrushippocampus properMore reference expression dataBioGPSMore reference expression dataGene ontologyMolecular functionamyloid beta binding structural molecule activity protein kinase activator activity protein binding kinesin binding protein kinase binding MAP kinase scaffold activity protein containing complex bindingCellular componentcytoplasm neuronal cell body intracellular anatomical structure postsynaptic density protein containing complexBiological processdendrite morphogenesis regulation of signaling receptor activity signal complex assembly mating behavior behavioral fear response MAPK cascade regulation of AMPA receptor activity nonassociative learning regulation of NMDA receptor activity JNK cascade regulation of JNK cascade excitatory postsynaptic potential social behavior regulation of synaptic transmission glutamatergic positive regulation of stress activated MAPK cascade activation of protein kinase activity negative regulation of apoptotic signaling pathwaySources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez2354260597EnsemblENSG00000008735ENSMUSG00000022619UniProtQ13387Q9ERE9RefSeq mRNA NM 012324NM 016431NM 139124NM 021921RefSeq protein NP 036456NP 068740Location UCSC Chr 22 50 6 50 61 MbChr 15 89 34 89 35 MbPubMed search 3 4 WikidataView Edit HumanView Edit Mouse 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 7 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 6 Interactions editMAPK8IP2 has been shown to interact with MAP3K10 5 Mitogen activated protein kinase 9 5 LRP2 8 9 LRP1 8 MAPK8IP3 10 MAP3K12 5 MAPK8IP1 5 MAP2K7 5 11 and MAP3K11 5 References edit a b c GRCh38 Ensembl release 89 ENSG00000008735 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000022619 Ensembl May 2017 Human PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Mouse PubMed Reference National Center for Biotechnology Information U S National Library of Medicine a b c d e f g Yasuda J Whitmarsh AJ Cavanagh J Sharma M Davis RJ February 2000 The JIP Group of Mitogen Activated Protein Kinase Scaffold Proteins Mol Cell Biol 19 10 7245 54 doi 10 1128 mcb 19 10 7245 PMC 84717 PMID 10490659 a b Entrez Gene MAPK8IP2 mitogen activated protein kinase 8 interacting protein 2 Giza J et al 2010 Behavioral and cerebellar transmission deficits in mice lacking the autism linked gene islet brain 2 J Neurosci 30 44 14805 16 doi 10 1523 JNEUROSCI 1161 10 2010 PMC 3200367 PMID 21048139 a b Gotthardt 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 275 33 25616 24 doi 10 1074 jbc M000955200 ISSN 0021 9258 PMID 10827173 Petersen HH 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 116 Pt 3 453 61 doi 10 1242 jcs 00243 ISSN 0021 9533 PMID 12508107 Kelkar N Gupta S Dickens M Davis R J February 2000 Interaction of a Mitogen Activated Protein Kinase Signaling Module with the Neuronal Protein JIP3 Mol Cell Biol 20 3 1030 43 doi 10 1128 MCB 20 3 1030 1043 2000 ISSN 0270 7306 PMC 85220 PMID 10629060 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 64 3 324 30 doi 10 1006 geno 2000 6129 ISSN 0888 7543 PMID 10756100 Further reading editAndersson 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 PMID 8619474 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 PMID 8889548 Yu W Andersson B Worley KC et al 1997 Large Scale Concatenation cDNA Sequencing Genome Res 7 4 353 8 doi 10 1101 gr 7 4 353 PMC 139146 PMID 9110174 Dunham I Shimizu N Roe BA et al 1999 The DNA sequence of human chromosome 22 Nature 402 6761 489 95 Bibcode 1999Natur 402 489D doi 10 1038 990031 PMID 10591208 Kelkar N Gupta S Dickens M Davis RJ 2000 Interaction of a Mitogen Activated Protein Kinase Signaling Module with the Neuronal Protein JIP3 Mol Cell Biol 20 3 1030 43 doi 10 1128 MCB 20 3 1030 1043 2000 PMC 85220 PMID 10629060 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 PMID 10756100 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 PMID 10827173 Schoorlemmer J Goldfarb M 2001 Fibroblast growth factor homologous factors are intracellular signaling proteins Curr Biol 11 10 793 7 Bibcode 2001CBio 11 793S doi 10 1016 S0960 9822 01 00232 9 PMC 3216481 PMID 11378392 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 PMID 12023290 Buchsbaum RJ Connolly BA Feig LA 2002 Interaction of Rac Exchange Factors Tiam1 and Ras GRF1 with a Scaffold for the p38 Mitogen Activated Protein Kinase Cascade Mol Cell Biol 22 12 4073 85 doi 10 1128 MCB 22 12 4073 4085 2002 PMC 133864 PMID 12024021 Schoorlemmer J Goldfarb M 2003 Fibroblast growth factor homologous factors and the islet brain 2 scaffold protein regulate activation of a stress activated protein kinase J Biol Chem 277 51 49111 9 doi 10 1074 jbc M205520200 PMC 4266389 PMID 12244047 Strausberg RL Feingold EA Grouse LH et al 2003 Generation and initial analysis of more than 15 000 full length human and mouse cDNA sequences Proc Natl Acad Sci U S A 99 26 16899 903 Bibcode 2002PNAS 9916899M doi 10 1073 pnas 242603899 PMC 139241 PMID 12477932 Willoughby EA Perkins GR Collins MK Whitmarsh AJ 2003 The JNK interacting protein 1 scaffold protein targets MAPK phosphatase 7 to dephosphorylate JNK J Biol Chem 278 12 10731 6 doi 10 1074 jbc M207324200 PMID 12524447 Collins JE Goward ME Cole CG et al 2003 Reevaluating Human Gene Annotation A Second Generation Analysis of Chromosome 22 Genome Res 13 1 27 36 doi 10 1101 gr 695703 PMC 430954 PMID 12529303 Gerhard DS Wagner L Feingold EA et al 2004 The Status Quality and Expansion of the NIH Full Length cDNA Project The Mammalian Gene Collection MGC Genome Res 14 10B 2121 7 doi 10 1101 gr 2596504 PMC 528928 PMID 15489334 Kristensen O Guenat S Dar I et al 2006 A unique set of SH3 SH3 interactions controls IB1 homodimerization EMBO J 25 4 785 97 doi 10 1038 sj emboj 7600982 PMC 1383563 PMID 16456539 nbsp This article on a gene on human chromosome 22 is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia 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