DNMBP gene

dynamin binding protein

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

From NCBI Gene:

This gene encodes a protein belonging to the guanine nucleotide exchange factor family, and which regulates the configuration of cell junctions. It contains multiple binding sites for dynamin and thus links dynamin to actin regulatory proteins. Polymorphisms in this gene have been linked to Alzheimer's disease in some populations, though there are conflicting reports of such linkages in other populations. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

From UniProt:

Plays a critical role as a guanine nucleotide exchange factor (GEF) for CDC42 in several intracellular processes associated with the actin and microtubule cytoskeleton. Regulates the structure of apical junctions through F-actin organization in epithelial cells (PubMed:19767742, PubMed:17015620). Participates in the normal lumenogenesis of epithelial cell cysts by regulating spindle orientation (PubMed:20479467). Play a role in ciliogenesis (By similarity). May play a role in membrane trafficking between the cell surface and the Golgi (By similarity).

From NCBI Gene:

  • CATARACT 48

From UniProt:

Defects in DNMBP may be involved in an autosomal recessive ocular disease characterized by bilateral infantile or early-childhood-onset cataracts.

Cytogenetic Location: 10q24.2, which is the long (q) arm of chromosome 10 at position 24.2

Molecular Location: base pairs 99,875,571 to 100,009,948 on chromosome 10 (Homo sapiens Updated Annotation Release 109.20190607, GRCh38.p13) (NCBI)

Cytogenetic Location: 10q24.2, which is the long (q) arm of chromosome 10 at position 24.2
  • ARHGEF36
  • CTRCT48
  • TUBA