DIAPH2

Protein diaphanous homolog 2 is a protein that in humans is encoded by the DIAPH2 gene.^[5][6]

DIAPH2
Identifiers
Aliases	DIAPH2, DIA, DIA2, DRF2, POF, POF2, diaphanous related formin 2, POF2A
External IDs	OMIM: 300108; MGI: 1858500; HomoloGene: 136807; GeneCards: DIAPH2; OMA:DIAPH2 - orthologs
Gene location (Human) Chr. X chromosome (human)[1] Band Xq21.33 Start 96,684,712 bp[1] End 97,604,997 bp[1]
Gene location (Mouse) Chr. X chromosome (mouse)[2] Band X|X E3 Start 128,650,491 bp[2] End 129,366,583 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in buccal mucosa cell parietal pleura bronchial epithelial cell lower lobe of lung visceral pleura hair follicle Achilles tendon Epithelium of choroid plexus placenta sperm Top expressed in olfactory tubercle dorsal striatum ascending aorta stroma of bone marrow iris nucleus accumbens aortic valve left lung lobe carotid body epithelium of stomach More reference expression data BioGPS More reference expression data
Gene ontology Molecular function actin binding signaling receptor binding Cellular component cytoplasm cytosol endosome early endosome nucleolus intracellular membrane-bounded organelle endoplasmic reticulum Biological process multicellular organism development cell differentiation female gamete generation actin cytoskeleton organization actin filament organization oogenesis cellular component organization Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 1730 54004 Ensembl ENSG00000147202 ENSMUSG00000034480 UniProt O60879 O70566 RefSeq (mRNA) NM_007309 NM_006729 NM_017398 NM_172493 RefSeq (protein) NP_006720 NP_009293 NP_766081 Location (UCSC) Chr X: 96.68 – 97.6 Mb Chr X: 128.65 – 129.37 Mb PubMed search [3] [4]
Wikidata
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Function

This gene may play a role in the development and normal function of the ovaries. Mutations of this gene have been linked to premature ovarian failure. Alternative splicing results in two protein isoforms.^[6]

Interactions

DIAPH2 has been shown to interact with RhoD.^[7]