DNM2: Difference between revisions

DNM2
Symbol	DNM2
HGNC ID	2972
Alternative symbols	–
Entrez Gene	1785
OMIM	602378
RefSeq	NM_001005360
UniProt	Q05193
Chromosome	19p13.2
Locus supplementary data	–

Latest revision as of 20:31, 30 December 2024

DNM2 (Dynamin 2) is a gene that encodes a member of the dynamin family of GTPases. Dynamins are involved in endocytosis, a process by which cells internalize molecules and particles from their environment. The DNM2 gene is located on the short arm of chromosome 19 at position 13.2.

Function[edit]

The protein encoded by the DNM2 gene is involved in the scission of newly formed vesicles from the membrane during endocytosis. It plays a crucial role in the clathrin-mediated endocytosis pathway, which is essential for the uptake of nutrients, regulation of receptor signaling, and maintenance of cellular homeostasis.

Clinical Significance[edit]

Mutations in the DNM2 gene have been associated with several neuromuscular disorders, including Charcot-Marie-Tooth disease and centronuclear myopathy. These conditions are characterized by muscle weakness and atrophy, and they can vary in severity depending on the specific mutation present in the DNM2 gene.

Charcot-Marie-Tooth Disease[edit]

Charcot-Marie-Tooth disease (CMT) is a group of inherited disorders that affect the peripheral nerves. Mutations in the DNM2 gene can lead to a subtype of CMT known as CMT2M, which is characterized by progressive muscle weakness and atrophy, particularly in the distal muscles of the limbs.

Centronuclear Myopathy[edit]

Centronuclear myopathy is a congenital myopathy that affects the skeletal muscles. It is characterized by the presence of centrally located nuclei in muscle fibers. Mutations in the DNM2 gene can cause a form of centronuclear myopathy that presents with muscle weakness and hypotonia from birth or early childhood.

Research and Therapeutic Approaches[edit]

Research into the DNM2 gene and its associated pathways is ongoing, with the aim of developing targeted therapies for the disorders caused by its mutations. Approaches such as gene therapy and small molecule inhibitors are being explored to modulate the activity of dynamin 2 and alleviate the symptoms of these conditions.

References[edit]

@@ Line 1: / Line 1: @@
-[[File:DNM2_protein.png|thumb|DNM2 protein]] '''DNM2'''
-[[File:DNM2_structure.png|thumb|right|200px|Crystal structure of DNM2]]
+{{Infobox gene
-'''Dynamin-2''' (DNM2) is a protein-coding gene that plays a crucial role in cellular processes such as endocytosis and membrane trafficking. It is a member of the dynamin family of GTPases and is primarily involved in the scission of vesicles from the plasma membrane during endocytosis.
+| name = DNM2
-== Structure ==
+| caption = Dynamin 2
-DNM2 consists of several domains, including a GTPase domain, a middle domain, a pleckstrin homology (PH) domain, a GTPase effector domain (GED), and a proline-rich domain. These domains work together to facilitate the formation and fission of vesicles.
+| symbol = DNM2
+| HGNCid = 2972
+| OMIM = 602378
+| EntrezGene = 1785
+| RefSeq = NM_001005360
+| UniProt = Q05193
+| chromosome = 19
+| arm = p
+| band = 13.2
+}}
+'''DNM2''' (Dynamin 2) is a [[gene]] that encodes a member of the [[dynamin]] family of [[GTPase]]s. Dynamins are involved in [[endocytosis]], a process by which cells internalize molecules and particles from their environment. The DNM2 gene is located on the short arm of [[chromosome 19]] at position 13.2.
 == Function ==
-The primary function of DNM2 is to regulate the process of endocytosis, which involves the internalization of extracellular molecules into the cell. DNM2 plays a key role in the formation of clathrin-coated vesicles that transport cargo molecules into the cell.
+The protein encoded by the DNM2 gene is involved in the scission of newly formed [[vesicles]] from the membrane during endocytosis. It plays a crucial role in the [[clathrin-mediated endocytosis]] pathway, which is essential for the uptake of nutrients, regulation of [[receptor]] signaling, and maintenance of [[cellular homeostasis]].
 == Clinical Significance ==
-Mutations in the DNM2 gene have been associated with various human diseases, including centronuclear myopathy and Charcot-Marie-Tooth disease. These conditions are characterized by muscle weakness and degeneration due to impaired vesicle trafficking and membrane dynamics.
+Mutations in the DNM2 gene have been associated with several [[neuromuscular disorders]], including [[Charcot-Marie-Tooth disease]] and [[centronuclear myopathy]]. These conditions are characterized by muscle weakness and atrophy, and they can vary in severity depending on the specific mutation present in the DNM2 gene.
-== Interactions ==
-DNM2 interacts with a variety of proteins involved in endocytosis and vesicle trafficking, including clathrin, amphiphysin, and endophilin. These interactions are essential for the proper functioning of the endocytic machinery.
+=== Charcot-Marie-Tooth Disease ===
-== Regulation ==
+Charcot-Marie-Tooth disease (CMT) is a group of inherited disorders that affect the [[peripheral nerves]]. Mutations in the DNM2 gene can lead to a subtype of CMT known as CMT2M, which is characterized by progressive muscle weakness and atrophy, particularly in the distal muscles of the limbs.
-The activity of DNM2 is tightly regulated by post-translational modifications such as phosphorylation and ubiquitination. These modifications modulate the GTPase activity of DNM2 and its ability to scission vesicles from the membrane.
+=== Centronuclear Myopathy ===
+Centronuclear myopathy is a congenital myopathy that affects the [[skeletal muscles]]. It is characterized by the presence of centrally located nuclei in muscle fibers. Mutations in the DNM2 gene can cause a form of centronuclear myopathy that presents with muscle weakness and hypotonia from birth or early childhood.
+== Research and Therapeutic Approaches ==
+Research into the DNM2 gene and its associated pathways is ongoing, with the aim of developing targeted therapies for the disorders caused by its mutations. Approaches such as [[gene therapy]] and [[small molecule]] inhibitors are being explored to modulate the activity of dynamin 2 and alleviate the symptoms of these conditions.
+== See Also ==
+* [[Dynamin]]
+* [[Endocytosis]]
+* [[Charcot-Marie-Tooth disease]]
+* [[Centronuclear myopathy]]
 == References ==
-{{food-stub}}
+<references/>
-[[Category:Proteins]]
-[[Category:Cell biology]]
+{{Genes on human chromosome 19}}
-[[Category:Genes]]
+[[Category:Genes on human chromosome 19]]
+[[Category:GTPases]]
+[[Category:Neuromuscular disorders]]
+[[Category:Endocytosis]]