MAPK8IP2

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Description

The MAPK8IP2 (mitogen-activated protein kinase 8 interacting protein 2) is a protein-coding gene located on chromosome 22.

C-jun-amino-terminal kinase-interacting protein 2 (MAPK8IP2) is a protein encoded by the gene of the same name. It 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 regulates the ratio of AMPA receptors to NMDA receptors at glutamate synapses, contributing to the intellectual dysfunction and neurological symptoms characteristic of PMS. MAPK8IP2 is related to MAPK8IP1/IB1/JIP-1, a scaffold protein involved in the c-Jun amino-terminal kinase signaling pathway. MAPK8IP2 is expressed in brain and pancreatic cells and interacts with and regulates the activity of MAPK8/JNK1 and MAP2K7/MKK7 kinases. It functions as a regulator of signal transduction by protein kinase cascades in the brain and pancreatic beta-cells. Multiple isoforms are encoded by this gene due to alternative splicing. MAPK8IP2 has been shown to interact with MAP3K10, Mitogen-activated protein kinase 9, LRP2, LRP1, MAPK8IP3, MAP3K12, MAPK8IP1, MAP2K7, and MAP3K11.

JIP2, a member of the JIP family of scaffold proteins, specifically regulates JNK signaling by bringing together key components of the MAPK pathway. This creates a functional JNK signaling module. JIP2 also plays a role in protecting insulin-producing cells from apoptosis triggered by IL1 beta. JIP2 may also be involved in regulating vesicle transport, potentially by interacting with both JNK signaling components and motor proteins.

MAPK8IP2 is also known as IB-2, IB2, JIP2, PRKM8IPL.

Associated Diseases

• male infertility with teratozoospermia due to single gene mutation
• spermatogenic failure 61
• spermatogenic failure 73
• spermatogenic failure 74
• spermatogenic failure 72
• spermatogenic failure 20
• spermatogenic failure 46
• spermatogenic failure 18
• spermatogenic failure 27
• spermatogenic failure 48
• spermatogenic failure 19
• spermatogenic failure 49
• spermatogenic failure 43
• spermatogenic failure 45
• spermatogenic failure 65
• spermatogenic failure, X-linked, 3
• spermatogenic failure 40
• spermatogenic failure 47
• spermatogenic failure 3
• spermatogenic failure 42
• spermatogenic failure 39