C-jun-amino-terminal kinase-interacting protein 2 is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, respo ...
or the name of the
gene
In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a ba ...
that encodes it.
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
22q13 deletion syndrome, also known as Phelan–McDermid syndrome (PMS), is a genetic disorder caused by deletions or rearrangements on the q terminal end (long arm) of chromosome 22. Any abnormal genetic variation in the q13 region that present ...
(PMS). MAPK8IP2 appears to regulate the ratio of
AMPA receptor
The α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor (also known as AMPA receptor, AMPAR, or quisqualate receptor) is an ionotropic receptor, ionotropic transmembrane receptor for glutamate (iGluR) that mediates fast synapse, synap ...
s to
NMDA receptor
The ''N''-methyl-D-aspartate receptor (also known as the NMDA receptor or NMDAR), is a glutamate receptor and ion channel found in neurons. The NMDA receptor is one of three types of ionotropic glutamate receptors, the other two being AMPA rece ...
s at glutamate synapses,
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.
Interactions
MAPK8IP2 has been shown to
interact
Advocates for Informed Choice, dba interACT or interACT Advocates for Intersex Youth, is a 501(c)(3) nonprofit organization using innovative strategies to advocate for the legal and human rights of children with intersex traits. The organizati ...
with
MAP3K10
Mitogen-activated protein kinase kinase kinase 10 is an enzyme that in humans is encoded by the ''MAP3K10'' gene.
Function
The protein encoded by this gene is a member of the serine/threonine kinase family. This kinase has been shown to activa ...
,
Mitogen-activated protein kinase 9
Mitogen-activated protein kinase 9 is an enzyme that in humans is encoded by the ''MAPK9'' gene.
Function
The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as an integration point for multiple biochemical s ...
,
[ ]LRP2
Low density lipoprotein receptor-related protein 2 also known as LRP-2 or megalin is a protein which in humans is encoded by the ''LRP2'' gene.
Function
LRP2 was identified as the antigen of rat experimental membranous nephropathy (Heyman neph ...
, LRP1
Low density lipoprotein receptor-related protein 1 (LRP1), also known as alpha-2-macroglobulin receptor (A2MR), apolipoprotein E receptor (APOER) or cluster of differentiation 91 (CD91), is a protein forming a receptor found in the plasma membra ...
,[ ]MAPK8IP3
C-jun-amino-terminal kinase-interacting protein 3 is an enzyme that in humans is encoded by the ''MAPK8IP3'' gene.
The protein encoded by this gene shares similarity with the product of Drosophila syd gene, required for the functional interaction ...
, MAP3K12
Mitogen-activated protein kinase 12 is an enzyme that in humans is encoded by the ''MAP3K12'' gene.
Function
The protein encoded by this gene is a member of serine/threonine protein kinase family. This kinase contains a leucine-zipper domain, a ...
,[ ]MAPK8IP1
C-jun-amino-terminal kinase-interacting protein 1 is an enzyme that in humans is encoded by the ''MAPK8IP1'' gene.
The protein encoded by this gene is a regulator of the pancreatic beta-cell function. It is highly similar to JIP-1, a mouse protein ...
,[ ]MAP2K7
Dual specificity mitogen-activated protein kinase kinase 7, also known as MAP kinase kinase 7 or MKK7, is an enzyme that in humans is encoded by the ''MAP2K7'' gene. This protein is a member of the mitogen-activated protein kinase kinase family. T ...
and MAP3K11
Mitogen-activated protein kinase kinase kinase 11 is an enzyme that in humans is encoded by the ''MAP3K11'' gene.
Function
The protein encoded by this gene is called MLK3 and it is a member of the serine/threonine kinase family. This kinase co ...
.[
]
References
Further reading
*
*
*
*
*
*
*
*
*
*
*
*
*
*
*
*
{{gene-22-stub