DIAPH2 Gene Summary [Human]

The product of this gene belongs to the diaphanous subfamily of the formin homology family of proteins. This gene may play a role in the development and normal function of the ovaries. Defects in this gene have been linked to premature ovarian failure 2. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

Details

Type
Protein Coding
Official Symbol
DIAPH2
Official Name
diaphanous related formin 2 [Source:HGNC Symbol;Acc:HGNC:2877]
Ensembl ID
ENSG00000147202
Bio databases IDs NCBI: 1730 Ensembl: ENSG00000147202
Aliases diaphanous related formin 2, Premature ovarian failure 2A
Synonyms AABR07040412.1, DIA, DIA2, Dia3, Diap2, diaphanous-related formin 2, DRF2, E430022I22Rik, MDIA3, POF, POF2, POF2A, RGD1564399
Species
Human, Homo sapiens
OrthologiesMouse

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 in human DIAPH2 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
  • diaphanous autoregulatory domain
  • protein binding
  • receptor binding
  • formin homology domain 3
  • Diaphanous GTPase-binding Domain
  • formin homology domain 1
  • Diaphanous inhibitory domain
  • actin binding
  • dia-autoinhibitory domain
  • Rho-binding domain

Pathways

Biological processes and signaling networks where the DIAPH2 gene in human 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.
disease
  • premature ovarian failure type 2A
  • pancreatic adenocarcinoma
  • pancreatic epithelial cancer
  • schizophrenia
  • Turner syndrome
  • premature ovarian failure
  • diverticular disease
  • polycystic ovary syndrome
  • diffuse systemic sclerosis
  • organismal death
regulated by
regulates
role in cell
  • adhesion
  • formation
  • formation in
  • migration
  • stabilization
  • polarization
  • generation
  • invasion by
  • proteolysis by
  • cell spreading

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
  • intracellular membrane-bounded organelle
  • endosomes
  • Endoplasmic Reticulum
  • microtubule tips
  • cytosol
  • nucleoli
  • spindle pole

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human DIAPH2 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • female gamete generation
  • oogenesis
  • actin filament polymerization

Cellular Component

Where in the cell the gene product is active
  • early endosome
  • intracellular membrane-bounded organelle
  • cytosol
  • endoplasmic reticulum
  • actin filament
  • nucleolus

Molecular Function

What the gene product does at the molecular level
  • actin binding
  • small GTPase binding
  • receptor 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.