Dynamin-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 ...
that in humans is encoded by the ''DNM2''
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 ...
.
Function
Dynamins represent one of the subfamilies of GTP-binding proteins. These proteins share considerable sequence similarity over the N-terminal portion of the molecule, which contains the GTPase domain. Dynamins are associated with microtubules. They have been implicated in cell processes such as endocytosis and cell motility, and in alterations of the membrane that accompany certain activities such as bone resorption by osteoclasts. Dynamins bind many proteins that bind actin and other cytoskeletal proteins. Dynamins can also self-assemble, a process that stimulates GTPase activity. Four alternatively spliced transcripts encoding different proteins have been described. Additional alternatively spliced transcripts may exist, but their full-length nature has not been determined.
Interactions
DNM2 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:
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SHANK1
SH3 and multiple ankyrin repeat domains protein 1 is a protein that in humans is encoded by the ''SHANK1'' gene.
Interactions
SHANK1 has been shown to interact with:
* ARHGEF7,
* BAIAP2,
* DNM2,
* SPTAN1
Alpha II-spectrin, also known as S ...
,
*
SHANK2
SH3 and multiple ankyrin repeat domains protein 2 is a protein that in humans is encoded by the ''SHANK2'' gene. Two alternative splice variants, encoding distinct isoforms, are reported. Additional splice variants exist but their full-length natur ...
,
[ and
* ]SNX9
Sorting nexin-9 is a protein that in humans is encoded by the ''SNX9'' gene.
This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in ...
.
Clinical relevance
Mutations in this gene have been associated to cases of acute lymphoblastic leukaemia
Acute lymphoblastic leukemia (ALL) is a cancer of the lymphoid line of blood cells characterized by the development of large numbers of immature lymphocytes. Symptoms may include feeling tired, pale skin color, fever, easy bleeding or bruisin ...
,
References
Further reading
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External links
GeneReviews/NIH/NCBI/UW entry on DNM2-Related Intermediate Charcot-Marie-Tooth Neuropathy or AD Charcot-Marie-Tooth Disease Type 2B
HGNC Approved Gene Symbol: DNM2, Cytogenetic location: 19p13.2,Genomic coordinates (GRCh38): 19:10,718,052-10,831,909 (from NCBI)
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