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protein diaphanous homolog 2 (DIAPH2, DIA)
Function: -could be involved in oogenesis
- involved in regulation of endosome dynamics
- implicated in a novel signal transduction pathway, in which isoform 3 & CSK are sequentially activated by RHOD to regulate motility of early endosomes through interactions with the actin cytoskeleton
- isoform 3 interacts with RHOD in the GTP-bound form
- DRFs are regulated by intramolecular GBD-DAD binding where Rho-GTP activates the DRFs by disrupting the GBD-DAD interaction
Structure:
- belongs to the formin homology family, diaphanous subfamily
- contains 1 DAD (diaphanous autoregulatory) domain
- contains 1 FH1 (formin homology 1) domain
- contains 1 FH2 (formin homology 2) domain
- contains 1 GBD/FH3 (Rho GTPase-binding/formin homology 3) domain
Compartment:
- isoform 3:
- cytoplasm, cytosol, early endosome
- cytosolic but when coexpressed with RHOD, the 2 proteins colocalize to early endosomes
Alternative splicing: named isoforms=3
Expression:
- expressed in testis, ovary, small intestine, prostate, lung, liver, kidney & leukocytes
- expressed from E16 in ovary & testis & during P6-P16 during differentiation of ovarian follicles
Pathology:
- defects in DIAPH2 are the cause of premature ovarian failure type 2A
General
formin homology family protein
phosphoprotein
Properties
SIZE: entity length = 1101 aa
MW = 126 kD
COMPARTMENT: cytoplasm
MOTIF: acetylation site
SITE: N-TERMINUS
EFFECTOR-BOUND: acetyl
GBD/FH3 {98-464}
MOTIF: coiled coil {366-418}
coiled coil {487-547}
MOTIF: serine-rich region {543-546}
MOTIF: serine residue (SEVERAL)
FH1 {549-623}
MOTIF: proline-rich region
SITE: 562-572
MOTIF: proline residue (SEVERAL)
proline-rich region
SITE: 576-585
MOTIF: proline residue (SEVERAL)
proline-rich region
SITE: 591-597
MOTIF: proline residue (SEVERAL)
proline-rich region
SITE: 603-608
MOTIF: proline residue (SEVERAL)
proline-rich region
SITE: 613-616
MOTIF: proline residue (SEVERAL)
FH2 {628-1028}
MOTIF: Tyr phosphorylation site {Y632}
coiled coil {903-1053}
MOTIF: lysine-rich region {1038-1041}
MOTIF: lysine residue (SEVERAL)
DAD {1051-1081}
MOTIF: lysine-rich region {1072-1075}
MOTIF: lysine residue (SEVERAL)
Database Correlations
OMIM correlations
UniProt O60879
PFAM correlations
Entrez Gene 1730
Kegg hsa:1730
References
UniProt :accession O60879