DYNC1I2 gene

dynein cytoplasmic 1 intermediate chain 2

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a member of the dynein intermediate chain family. The encoded protein is a non-catalytic component of the cytoplasmic dynein 1 complex, which acts as a retrograde microtubule motor to transport organelles and vesicles. A pseudogene of this gene is located on chromosome 10. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]

From UniProt:

Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 1 complex that are thought to be involved in linking dynein to cargos and to adapter proteins that regulate dynein function. Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organelles along microtubules. The intermediate chains mediate the binding of dynein to dynactin via its 150 kDa component (p150-glued) DCNT1. Involved in membrane-transport, such as Golgi apparatus, late endosomes and lysosomes.

From NCBI Gene:

  • NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES

Cytogenetic Location: 2q31.1, which is the long (q) arm of chromosome 2 at position 31.1

Molecular Location: base pairs 171,687,465 to 171,750,158 on chromosome 2 (Homo sapiens Updated Annotation Release 109.20190905, GRCh38.p13) (NCBI)

Cytogenetic Location: 2q31.1, which is the long (q) arm of chromosome 2 at position 31.1
  • DIC74
  • DNCI2
  • IC2
  • NEDMIBA