DIAPH2
Developmental stage
Expressed from 16 dpc in ovary and testis and during P6-P16 during differentiation of ovarian follicles.
Domain
The DAD domain regulates activation via by an autoinhibitory interaction with the GBD/FH3 domain. This autoinhibition is released upon competitive binding of an activated GTPase. The release of DAD allows the FH2 domain to then nucleate and elongate nonbranched actin filaments (By similarity).
Function
Could be involved in oogenesis. Involved in the regulation of endosome dynamics. Implicated in a novel signal transduction pathway, in which isoform 3 and CSK are sequentially activated by RHOD to regulate the motility of early endosomes through interactions with the actin cytoskeleton.
Involvement in disease
Premature ovarian failure 2A
POF2A
An ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the formin homology family. Diaphanous subfamily.
Tissue Specificity
Expressed in testis, ovary, small intestine, prostate, lung, liver, kidney and leukocytes.
Cellular localization
- Isoform 3
- Cytoplasm
- Cytosol
- Early endosome
- Isoform 3 is cytosolic but when coexpressed with RHOD, the 2 proteins colocalize to early endosomes.
Alternative names
DIA, DIAPH2, Protein diaphanous homolog 2, Diaphanous-related formin-2, DRF2