MAPK8IP2

C-jun-amino-terminal kinase-interacting protein 2 is a protein or the name of the gene that encodes it.[4][5] The gene is also known as Islet-Brain-2 (IB2).

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
Gene location (Human) Chr. Chromosome 22 (human)[1] Band 22q13.33 Start 50,600,793 bp[1] End 50,613,981 bp[1]
RNA expression pattern More reference expression data
Gene ontology Molecular function • amyloid-beta binding • structural molecule activity • protein kinase activator activity • GO:0001948 protein binding • kinesin binding • protein kinase binding • MAP-kinase scaffold activity • GO:0032403 macromolecular complex binding Cellular component • cytoplasm • neuronal cell body • intracellular • GO:0097483, GO:0097481 postsynaptic density • macromolecular complex Biological process • dendrite morphogenesis • regulation of 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 organism 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	n/a
PubMed search	[2]	[3]
Wikidata
View/Edit Human View/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,[6] 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.[5]