MAPK8IP2

MAPK8IP2
Identifiers
Aliases	MAPK8IP2, IB-2, IB2, JIP2, PRKM8IPL, mitogen-activated protein kinase 8 interacting protein 2
External IDs	OMIM: 607755; MGI: 1926555; HomoloGene: 8201; GeneCards: MAPK8IP2; OMA:MAPK8IP2 - orthologs
Gene location (Human) Chr. Chromosome 22 (human)[1] Band 22q13.33 Start 50,600,793 bp[1] End 50,613,981 bp[1]
Gene location (Mouse) Chr. Chromosome 15 (mouse)[2] Band 15|15 E3 Start 89,338,116 bp[2] End 89,348,671 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Brodmann area 10 right hemisphere of cerebellum right frontal lobe paraflocculus of cerebellum Amygdala frontal pole cingulate gyrus anterior cingulate cortex dorsolateral prefrontal cortex Brodmann area 9 Top expressed in supraoptic nucleus central gray substance of midbrain dentate gyrus of hippocampal formation granule cell visual cortex pontine nuclei primary visual cortex facial motor nucleus anterior horn of spinal cord nucleus of stria terminalis motor neuron More reference expression data BioGPS More reference expression data
Gene ontology Molecular function amyloid-beta binding structural molecule activity protein kinase activator activity protein binding kinesin binding protein kinase binding MAP-kinase scaffold activity protein-containing complex binding Cellular component cytoplasm soma intracellular anatomical structure postsynaptic density protein-containing complex Biological process dendrite 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 pathway Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 23542 60597 Ensembl ENSG00000008735 ENSMUSG00000022619 UniProt Q13387 Q9ERE9 RefSeq (mRNA) NM_012324 NM_016431 NM_139124 NM_021921 RefSeq (protein) NP_036456 NP_068740 Location (UCSC) Chr 22: 50.6 – 50.61 Mb Chr 15: 89.34 – 89.35 Mb PubMed search [3] [4]
Wikidata
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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]

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]

This article on a gene on human chromosome 22 is a stub. You can help Wikipedia by expanding it.

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