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MAPK8IP2

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MAPK8IP2
Identifiers
AliasesMAPK8IP2, IB-2, IB2, JIP2, PRKM8IPL, mitogen-activated protein kinase 8 interacting protein 2
External IDsOMIM: 607755; MGI: 1926555; HomoloGene: 8201; GeneCards: MAPK8IP2; OMA:MAPK8IP2 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_012324
NM_016431
NM_139124

NM_021921

RefSeq (protein)

NP_036456

NP_068740

Location (UCSC)Chr 22: 50.6 – 50.61 MbChr 15: 89.34 – 89.35 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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]

Interactions

MAPK8IP2 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

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000008735Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000022619Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ 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.
  6. ^ a b "Entrez Gene: MAPK8IP2 mitogen-activated protein kinase 8 interacting protein 2".
  7. ^ 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.
  8. ^ 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.
  9. ^ 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. 116 (Pt 3): 453–61. doi:10.1242/jcs.00243. ISSN 0021-9533. PMID 12508107.
  10. ^ 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.
  11. ^ 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