FMNL2
   HOME

TheInfoList



OR:

Formin-like protein 2 is a
protein Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residue (biochemistry), residues. Proteins perform a vast array of functions within organisms, including Enzyme catalysis, catalysing metab ...
that in humans is encoded by the ''FMNL2''
gene In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei ...
.


Expression

Alternatively spliced transcript variants of the FMNL2 gene encoding different isoforms have been described. The full length FMNL2 (FRL3) protein (1092 amino acids-NCBI Reference Sequence: NP_443137.2omo sapiens- Protein result">) is regulated through autoinhibition, and may become activated through Rho proteins. The FMNL2 gene is expressed in multiple human tissues.


Function

Formin-like protein 2 is a
formin Formins (formin homology proteins) are a group of proteins that are involved in the polymerization of actin and associate with the fast-growing end (barbed end) of actin filaments. Most formins are Rho-GTPase effector proteins. Formins re ...
-related protein. Formin-related proteins have been implicated in morphogenesis, cytokinesis, and cell polarity.


Clinical significance

FMNL2 expression is considerably higher in
colorectal cancer Colorectal cancer (CRC), also known as bowel cancer, colon cancer, or rectal cancer, is the development of cancer from the Colon (anatomy), colon or rectum (parts of the large intestine). Signs and symptoms may include Lower gastrointestinal ...
tumors compared to normal tissue. Clinical studies showed that
single nucleotide polymorphisms In genetics and bioinformatics, a single-nucleotide polymorphism (SNP ; plural SNPs ) is a germline substitution of a single nucleotide at a specific position in the genome. Although certain definitions require the substitution to be present in ...
in the FMNL2 gene are associated with cardio and
cerebrovascular risk factors Cerebrovascular disease includes a variety of medical conditions that affect the blood vessels of the brain and the cerebral circulation. Arteries supplying oxygen and nutrients to the brain are often damaged or deformed in these disorders. The ...
and
Alzheimer's disease Alzheimer's disease (AD) is a neurodegenerative disease and the cause of 60–70% of cases of dementia. The most common early symptom is difficulty in remembering recent events. As the disease advances, symptoms can include problems wit ...
FMNL2 links vascular disease to increased risk of Alzheimer's disease by regulating the interaction between
astrocytes Astrocytes (from Ancient Greek , , "star" and , , "cavity", "cell"), also known collectively as astroglia, are characteristic star-shaped glial cells in the brain and spinal cord. They perform many functions, including biochemical control of end ...
and
blood vessels Blood vessels are the tubular structures of a circulatory system that transport blood throughout many animals’ bodies. Blood vessels transport blood cells, nutrients, and oxygen to most of the tissues of a body. They also take waste an ...
in healthy and Alzheimer's disease
brain The brain is an organ (biology), organ that serves as the center of the nervous system in all vertebrate and most invertebrate animals. It consists of nervous tissue and is typically located in the head (cephalization), usually near organs for ...
s.


See also

*
FMNL1 Formin-like protein 1 is a protein that in humans is encoded by the ''FMNL1'' gene. This gene encodes a formin-related protein. Formin-related proteins have been implicated in morphogenesis, cytokinesis, and cell polarity. An alternative splice v ...
*
FMNL3 Formin-like protein 3 (FMNL3), also known as WW domain-binding protein 3 (WBP-3), is a protein that in humans is encoded by the ''FMNL3'' gene. Function The protein encoded by this gene contains a formin homology 2 domain and has high sequence ...


References

{{gene-2-stub