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. Has a critical role in neurodevelopment (PubMed:31079899).

From NCBI Gene:

  • NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES

From UniProt:

Neurodevelopmental disorder with microcephaly and structural brain anomalies (NEDMIBA): An autosomal recessive neurodevelopmental disorder characterized by global developmental delay, severe intellectual disability, microcephaly, dysmorphic facial features, and cerebral malformations including simplification of cerebral gyration, agenesis of the corpus callosum, and brainstem and white matter hypoplasia. [MIM:618492]

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 109.20191205, GRCh38.p13) (NCBI)

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