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.

Alternatively spliced transcript variants encoding distinct isoforms have been reported for this gene.

[5] This article on a gene on human chromosome 22 is a stub.