DIAPH3 gene

diaphanous related formin 3

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

From NCBI Gene:

This gene encodes a member of the diaphanous subfamily of the formin family. Members of this family are involved in actin remodeling and regulate cell movement and adhesion. Mutations in this gene are associated with autosomal dominant auditory neuropathy 1. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]

From UniProt:

Actin nucleation and elongation factor required for the assembly of F-actin structures, such as actin cables and stress fibers. Required for cytokinesis, stress fiber formation and transcriptional activation of the serum response factor. Binds to GTP-bound form of Rho and to profilin: acts in a Rho-dependent manner to recruit profilin to the membrane, where it promotes actin polymerization. DFR proteins couple Rho and Src tyrosine kinase during signaling and the regulation of actin dynamics. Also acts as an actin nucleation and elongation factor in the nucleus by promoting nuclear actin polymerization inside the nucleus to drive serum-dependent SRF-MRTFA activity.

From NCBI Gene:

  • Auditory neuropathy, autosomal dominant, 1

From UniProt:

Auditory neuropathy, autosomal dominant, 1 (AUNA1): A form of sensorineural hearing loss with absent or severely abnormal auditory brainstem response, in the presence of normal cochlear outer hair cell function and normal otoacoustic emissions. Auditory neuropathies result from a lesion in the area including the inner hair cells, connections between the inner hair cells and the cochlear branch of the auditory nerve, the auditory nerve itself and auditory pathways of the brainstem. [MIM:609129]

Cytogenetic Location: 13q21.2, which is the long (q) arm of chromosome 13 at position 21.2

Molecular Location: base pairs 59,665,583 to 60,163,985 on chromosome 13 (Homo sapiens Updated Annotation Release 109.20190905, GRCh38.p13) (NCBI)

Cytogenetic Location: 13q21.2, which is the long (q) arm of chromosome 13 at position 21.2
  • AN
  • AUNA1
  • DIA2
  • diap3
  • DRF3
  • mDia2