DIAPH3

DIAPH3 Gene Summary

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]

Details

Type
Protein Coding
Official Symbol
DIAPH3
Official Name
diaphanous related formin 3 [Source:HGNC Symbol;Acc:HGNC:15480]
Ensembl ID
ENSG00000139734
Bio databases IDs NCBI: 81624 Ensembl: ENSG00000139734
Aliases diaphanous related formin 3
Synonyms
4930417P13Rik,AN,AUNA1,DIA2,Diap3,diaphanous-related formin 3,DRF3,LOC101926912,mDIA2,NSDAN,p134MDia2
Species
Human, Homo sapiens

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • Formin Homology 2 Domain
  • GTPase binding domain
  • Diaphanous FH3 Domain
  • dimerization domain
  • diaphanous autoregulatory domain
  • coiled-coil domain
  • enzyme
  • protein binding
  • formin homology domain 3
  • Diaphanous GTPase-binding Domain
  • formin homology domain 1
  • microtubule binding
  • Diaphanous inhibitory domain
  • cytoskeletal protein binding
  • actin binding
  • protein homodimerization
  • dia-autoinhibitory domain

Pathways

Biological processes and signaling networks where the DIAPH3 gene plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
binds
  • RAC1
  • RHOA
  • DLG4
  • ANLN
  • SIRT1
  • KCNA3
  • SNW1
  • TMEM126A
  • PCM1
  • CCDC183
disease
  • insomnia
  • acute myeloid leukemia
  • HER2 negative hormone receptor negative breast cancer
  • colorectal cancer
  • soft tissue sarcoma cancer
  • small cell lung cancer
  • non-insulin-dependent diabetes mellitus
  • organismal death
  • metabolic syndrome X
  • pancreatic adenocarcinoma
regulated by
  • YAP1
  • SP1
  • RHOA
  • TGFB1
  • paclitaxel
  • CEBPB
  • beta-estradiol
  • 8-bromo-cAMP
  • medroxyprogesterone acetate
  • CTNNB1
regulates
  • actin
  • GSK3B
  • INHBA
  • F Actin
  • G-actin (family)
  • FN1
  • DIAPH3
  • RHOT1
  • IGF1R
  • Gelatin
role in cell
  • formation
  • activation in
  • proliferation
  • generation in
  • disruption
  • disruption in
  • quantity
  • induction in
  • accumulation in
  • migration

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • actin cytoskeleton
  • Nucleus
  • endosomes
  • microtubules
  • actin filaments
  • midbody
  • sarcomere
  • microtubule organizing centers
  • cytosol
  • spindle pole
  • cleavage furrow
  • filopodial tip
  • ribbon synapse
  • lamellipodia

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the DIAPH3 gene, providing context for its role in the cell.

BIOLOGICAL PROCESS

Functions and activities the gene product is involved in
  • inner ear receptor cell differentiation
  • head development
  • cytoskeleton organization
  • cell projection organization
  • actin filament polymerization
  • chromosome segregation
  • negative regulation of microtubule depolymerization
  • microtubule polymerization
  • sensory perception of sound
  • actin crosslink formation
  • integrin-mediated signaling pathway
  • in utero embryonic development
  • actin nucleation
  • enucleation
  • endosomal transport
  • establishment of cell polarity
  • gene expression
  • macromolecular complex remodeling
  • actin cytoskeleton organization
  • podosome assembly
  • actin filament bundle assembly
  • macrophage differentiation

CELLULAR COMPONENT

Where in the cell the gene product is active
  • nucleus
  • microtubule organizing center
  • cytoplasm
  • cleavage furrow
  • ESCRT I complex
  • spindle pole
  • actin filament bundle
  • cytosol
  • filamentous actin
  • actin filament

MOLECULAR FUNCTION

What the gene product does at the molecular level
  • protein homodimerization activity
  • actin binding
  • cadherin binding
  • small GTPase binding
  • microtubule binding

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.