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FLASH GENE
Symbol DIAPH2 contributors: mct - updated : 18-02-2014
HGNC name diaphanous homolog 2 (Drosophila)
HGNC id 2877
Corresponding disease
POF2A premature ovarian failure 2A
Location Xq21.33      Physical location : 95.939.661 - 96.855.596
Synonym name
  • diaphorase-2
  • diaphanous-related formin-2
  • Synonym symbol(s) POF2, DIA, DRF2, POF, DIA2, Dia3, Diap2, FLJ11167
    DNA
    TYPE functioning gene
    STRUCTURE 915.94 kb     29 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    LOC392501 X similar to 60S ribosomal protein L26 LOC347530 Xq21.32 similar to adaptor-related protein complex 2, beta 1 subunit; adaptin, beta 2 (beta); clathrin-associated/assembly/adaptor protein, large, beta 1 LOC392502 X hypothetical gene supported by AK130770; NM_003932 NAP1L3 Xq21.33 nucleosome assembly protein 1-like 3 FLJ37659 Xq21.33 hypothetical protein FLJ37659 LOC392503 X similar to beta-tubulin CALM1P1 Xq21.33 calmodulin 1 (phosphorylase kinase, delta) pseudogene 1 LOC286532 Xq21.33 similar to histone acetyltransferase LOC392504 X hypothetical gene supported by AK124282 DIAPH2 Xq22 diaphanous homolog 2 (Drosophila) HSU24186 Xq21.33 replication protein A complex 34 kd subunit homolog Rpa4 LOC139302 Xq22.1 similar to envelope protein LOC392505 X similar to 60S ribosomal protein L6 (TAX-responsive enhancer element binding protein 107) (TAXREB107) (Neoplasm-related protein C140) LOC392506 X similar to elongation factor 1 alpha LOC392507 X similar to HSPC129 protein LOC158656 Xq22.1 similar to 40S ribosomal protein SA (P40) (34/67 kDa laminin receptor) (Colon carcinoma laminin-binding protein) (NEM/1CHD4) (Multidrug resistance-associated protein MGr1-Ag) PCDH19 Xq13.3 protocadherin 19 TNMD Xq21.33-q23 protocadherin 19 TM4SF6 Xq22 transmembrane 4 superfamily member 6 SRPUL Xq21.33-q23 sushi-repeat protein SYTL4 Xq21.33 synaptotagmin-like 4 (granuphilin-a) LOC392508 X similar to Double-strand-break repair protein rad21 homolog (hHR21) (Nuclear matrix protein 1) (NXP-1) (SCC1 homolog) CSTF2 Xq22.2-q22.3 cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa NOX1 Xq22 NADPH oxidase 1 LOC389877 X similar to Heterogeneous nuclear ribonucleoprotein A1 (Helix-destabilizing protein) (Single-strand binding protein) (hnRNP core protein A1) (HDP-1) (Topoisomerase-inhibitor suppressed) LOC347424 Xq22.1 similar to TGF beta-inducible nuclear protein 1 (Hairy cell leukemia protein 1) (HUSSY-29)
    regionally located in the DFN2 region
    RNA
    TRANSCRIPTS type messenger
    text four splice variants producing two protein isoforms, three transcript ubiquitously and fourth adult testis specific
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    27 splicing 3782 124.8 1096 - 2007 18044991
  • DIAPH-12C
  • different C terminus and 3'UTR
  • 28 splicing 4983 125.6 1101 - 2007 18044991
  • DIAPH2-156
  • different C terminus and 3'UTR
  • - - - - - . being cytosolic but when coexpressed with RHOD, the 2 proteins colocalize to early endosomes 2007 18044991
  • 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
  • binding to RhoD
  • EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinesmall intestine   
     intestinelarge intestinecolon highly
     liver    
    Reproductivefemale systemuteruscervix moderately
     female systemplacenta  moderately
     female systemovary   
     male systemprostate   
     male systemtestis  moderately
    Respiratorylung    
     respiratory tractlarynx  highly
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoietic    
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticleukocyte
    cell lineage
    cell lines
    fluid/secretion blood
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N terminal Rho binding domain
  • central polyproline stretches
  • a C terminal formin homology domain (FH)
  • a GTPase-binding domain (GBD)
  • three formin homology domains (FH1, 2 and 3)
  • a DRF autoregulatory domain (DAD)
  • HOMOLOGY
    interspecies homolog to Drosophila diaphanous 2
    ortholog to murine Diap2
    homolog to C.elegans y48g9a.l
    Homologene
    FAMILY
  • FH1 protein family
  • FH2 protein family
  • formin homology family
  • diaphanous subfamily
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus,nucleolus
    text
  • continuously shuttles between the nucleus and the cytoplasm using specific nuclear transport machinery composing of importin-alpha/beta and CRM1
  • basic FUNCTION
  • playing a role in development and normal function of the ovary
  • affecting cytokinesis and other actin-mediated morphogenetic processes required in early steps of development
  • could be involved in oogenesis
  • regulate the motility of early endosomes through interactions with the actin cytoskeleton
  • plays an important role in formation of lamellipodia by nucleating and/or protecting from capping lamellipodial actin filaments, which subsequently exhibit high tendency to converge into filopodia
  • DIAPH2 and FMNL1 mediate the formation of highly elastic F-actin networks as effectively and rapidly as alpha-actinin and filamin
  • DIAPH1, DIAPH2, DIAPH3 are implicated in mitosis and cytokinesis
  • DIAPH1, DIAPH2 are strong inducers of lamellipodia/membrane ruffles and neurite outgrowth
  • DIAPH2, DIAPH3 might be involved in the initiation stage of filopodium formation and not the elongation stage or that they might play an indirect role
  • DIAPH2, DAAM1, FMNL1, and FMNL2 were found to be required for myofibrillogenesis, non-redundantly
  • CELLULAR PROCESS cell life, differentiation
    cell organization/biogenesis
    PHYSIOLOGICAL PROCESS development , reproduction/sex
    text cell shape and cell size control oogenesis
    PATHWAY
    metabolism
    signaling signal transduction
  • 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
  • a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • APC2 binds DIAPH2 directly through a region of APC2 not previously shown to interact with DIAPH2-related formins
  • interaction between DIAPH2 and ANLN is required for the localization and function of DIAPH2 in cytokinesis
  • TOM1 is required for DIAPH2 ubiquitination and degradation during G1 and G2/M phases of the cell cycle, whereas the DIAPH2 protein is stabilized during S phase
  • RHOD activated by FGF signaling forms cytoneme-like protrusions through activation of DIAPH2, which induces actin filament formation
  • ZP3 regulates AKT1 phosphorylation, lamin binding to the nuclear membrane via AIPL1, and organization of the actin cytoskeleton via DIAPH2
  • cell & other
    REGULATION
    Other regulated by intramolecular GBD-DAD binding
    ASSOCIATED DISORDERS
    corresponding disease(s) POF2A
    Susceptibility
  • to age-related macular degeneration (AMD)
  • to premature ovarian failure
  • Variant & Polymorphism SNP
  • five SNPs over a 272 kb region associated with AMD
  • Candidate gene DFN2, POF2
    Marker
    Therapy target
    ANIMAL & CELL MODELS