Description: Homo sapiens diaphanous-related formin 2 (DIAPH2), transcript variant 156, mRNA. RefSeq Summary (NM_006729): 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]. Transcript (Including UTRs) Position: hg19 chrX:95,939,662-96,855,597 Size: 915,936 Total Exon Count: 27 Strand: + Coding Region Position: hg19 chrX:95,940,058-96,854,316 Size: 914,259 Coding Exon Count: 27
ID:DIAP2_HUMAN DESCRIPTION: RecName: Full=Protein diaphanous homolog 2; AltName: Full=Diaphanous-related formin-2; Short=DRF2; 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. SUBUNIT: Isoform 3 interacts with RHOD in the GTP-bound form. SUBCELLULAR LOCATION: Isoform 3: Cytoplasm, cytosol. Early endosome. Note=Isoform 3 is cytosolic but when coexpressed with RHOD, the 2 proteins colocalize to early endosomes. TISSUE SPECIFICITY: Expressed in testis, ovary, small intestine, prostate, lung, liver, kidney and leukocytes. DEVELOPMENTAL STAGE: Expressed from E16 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). DISEASE: Defects in DIAPH2 are the cause of premature ovarian failure type 2A (POF2A) [MIM:300511]. 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. SIMILARITY: Belongs to the formin homology family. Diaphanous subfamily. SIMILARITY: Contains 1 DAD (diaphanous autoregulatory) domain. SIMILARITY: Contains 1 FH1 (formin homology 1) domain. SIMILARITY: Contains 1 FH2 (formin homology 2) domain. SIMILARITY: Contains 1 GBD/FH3 (Rho GTPase-binding/formin homology 3) domain.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on O60879
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
