Entity Details

Primary name DIAPH2
Entity type gene
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Details

PrimaryID1730
RefseqGeneNG_008433
SymbolDIAPH2
Namediaphanous related formin 2
ChromosomeX
LocationXq21.33
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-04-01
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsDIAP2_HUMAN

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

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.