DCTN2 Chromosome 12

Dynactin subunit 2
1 variant 1 Health Risk

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What This Gene Does
This gene encodes a 50-kD subunit of dynactin, a macromolecular complex consisting of 10-11 subunits ranging in size from 22 to 150 kD. Dynactin binds to both microtubules and cytoplasmic dynein. It is involved in a diverse array of cellular functions, including ER-to-Golgi transport, the centripetal movement of lysosomes and endosomes, spindle formation, chromosome movement, nuclear positioning, and axonogenesis. This subunit is present in 4-5 copies per dynactin molecule. It contains three short alpha-helical coiled-coil domains that may mediate association with self or other dynactin subunits. It may interact directly with the largest subunit (p150) of dynactin and may affix p150 in place. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2012]
Gene Info
Gene Group
Dynactin subunits
Locus Type
gene with protein product
Location
12q13.3
Ensembl
ENSG00000175203
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS772327011 Health Risk Conflicting classifications of pathogenicity
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