Entity Details

Primary name DIAP2_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionO60879
EntryNameDIAP2_HUMAN
FullNameProtein diaphanous homolog 2
TaxID9606
Evidenceevidence at protein level
Length1101
SequenceStatuscomplete
DateCreated1999-07-15
DateModified2021-06-02

Ontological Relatives

GenesDIAPH2

GO terms

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GOName
GO:0003779 actin binding
GO:0005102 signaling receptor binding
GO:0005730 nucleolus
GO:0005769 early endosome
GO:0005783 endoplasmic reticulum
GO:0005829 cytosol
GO:0007015 actin filament organization
GO:0007275 multicellular organism development
GO:0007292 female gamete generation
GO:0031267 small GTPase binding
GO:0043231 intracellular membrane-bounded organelle
GO:0048477 oogenesis

Subcellular Location

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Subcellular Location
Cytoplasm
Early endosome

Domains

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DomainNameCategoryType
IPR010465 DRF autoregulatoryDomainDomain
IPR010472 Formin, FH3 domainDomainDomain
IPR010473 Formin, GTPase-binding domainDomainDomain
IPR011989 Armadillo-like helicalFamilyHomologous superfamily
IPR014767 Diaphanous autoregulatory (DAD) domainDomainDomain
IPR014768 Rho GTPase-binding/formin homology 3 (GBD/FH3) domainDomainDomain
IPR015425 Formin, FH2 domainDomainDomain
IPR016024 Armadillo-type foldFamilyHomologous superfamily
IPR027644 Protein diaphanous homologue 2FamilyFamily
IPR042201 Formin, FH2 domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
300511 OMIMPremature 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. The disease is caused by variants affecting the gene represented in this entry.