Receptor tyrosine-protein kinase erbB-4 is an
enzyme
Enzymes () are proteins that act as biological catalysts by accelerating chemical reactions. The molecules upon which enzymes may act are called substrates, and the enzyme converts the substrates into different molecules known as products. A ...
that in humans is encoded by the ''ERBB4''
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 ...
.
Alternatively spliced variants that encode different protein isoforms have been described; however, not all variants have been fully characterized.
Function
Receptor tyrosine-protein kinase erbB-4 is a
receptor tyrosine kinase that is a member of the
epidermal growth factor receptor family
The ErbB family of proteins contains four receptor tyrosine kinases, structurally related to the epidermal growth factor receptor (EGFR), its first discovered member. In humans, the family includes Her1 (EGFR, ErbB1), Her2 (Neu, ErbB2), Her3 (Er ...
. ERBB4 is a single-pass type I transmembrane protein with multiple
furin-like cysteine rich domains, a tyrosine kinase domain, a phosphotidylinositol-3 kinase binding site and a
PDZ domain binding motif. The protein binds to and is activated by
neuregulins-2, -3 and -4,
heparin-binding EGF-like growth factor
Heparin-binding EGF-like growth factor (HB-EGF) is a member of the EGF family of proteins that in humans is encoded by the ''HBEGF'' gene.
HB-EGF-like growth factor is synthesized as a membrane-anchored mitogenic and chemotactic glycoprotein. A ...
and
betacellulin
Betacellulin is a protein that in humans is encoded by the ''BTC'' gene located on chromosome 4 at locus 4q13-q21. Betacellulin was initially identified as a mitogen. Betacellulin, is a part of an Epidermal Growth Factor (EGF) family and function ...
. Ligand binding induces a variety of cellular responses including mitogenesis and differentiation. Multiple proteolytic events allow for the release of a cytoplasmic fragment and an extracellular fragment.
Clinical significance
Mutations in this gene have been associated with cancer.
Other
single-nucleotide polymorphisms and a risk haplotype have been linked to
schizophrenia
Schizophrenia is a mental disorder characterized by continuous or relapsing episodes of psychosis. Major symptoms include hallucinations (typically hearing voices), delusions, and disorganized thinking. Other symptoms include social withdra ...
.
in ERBB4 have also been found in a study of patients with familial
amyotrophic lateral sclerosis
Amyotrophic lateral sclerosis (ALS), also known as motor neuron disease (MND) or Lou Gehrig's disease, is a neurodegenerative disease that results in the progressive loss of motor neurons that control voluntary muscles. ALS is the most comm ...
type 19.
Interactions
ERBB4 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:
*
DLG4
PSD-95 (postsynaptic density protein 95) also known as SAP-90 (synapse-associated protein 90) is a protein that in humans is encoded by the ''DLG4'' (discs large homolog 4) gene.
PSD-95 is a member of the membrane-associated guanylate kinase (MAG ...
*
NRG1,
*
STAT5A,
and
*
YAP1.
References
Further reading
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External links
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{{Portal bar, Biology, border=no
Tyrosine kinase receptors