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MT000184

UniProt Annotations

Entry Information

Gene Name	diaphanous-related formin 2
Protein Entry	DIAP2_HUMAN
UniProt ID	O60879
Species	Human

Comments

Comment type	Description
Alternative Products	Event=Alternative splicing; Named isoforms=3; Name=1; Synonyms=DIA-156; IsoId=O60879-1; Sequence=Displayed; Name=2; Synonyms=DIA-12C, DIA2B; IsoId=O60879-2; Sequence=VSP_001573; Name=3; Synonyms=DIA2C; IsoId=O60879-3; Sequence=VSP_012955, VSP_012956;
Developmental Stage	Expressed from E16 in ovary and testis and during P6-P16 during differentiation of ovarian follicles.
Disease	Premature ovarian failure 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. {ECO:0000269\|PubMed:9497258}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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). {ECO:0000250}.
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. {ECO:0000269\|PubMed:12577064}.
Similarity	Belongs to the formin homology family. Diaphanous subfamily. {ECO:0000305}.
Similarity	Contains 1 DAD (diaphanous autoregulatory) domain. {ECO:0000255\|PROSITE-ProRule:PRU00577}.
Similarity	Contains 1 FH1 (formin homology 1) domain. {ECO:0000305}.
Similarity	Contains 1 FH2 (formin homology 2) domain. {ECO:0000255\|PROSITE-ProRule:PRU00774}.
Similarity	Contains 1 GBD/FH3 (Rho GTPase-binding/formin homology 3) domain. {ECO:0000255\|PROSITE-ProRule:PRU00579}.
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.
Subunit	Isoform 3 interacts with RHOD in the GTP-bound form. {ECO:0000269\|PubMed:12577064}.
Tissue Specificity	Expressed in testis, ovary, small intestine, prostate, lung, liver, kidney and leukocytes.