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    Diaph2 diaphanous related formin 2 [ Mus musculus (house mouse) ]

    Gene ID: 54004, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Diaph2provided by MGI
    Official Full Name
    diaphanous related formin 2provided by MGI
    Primary source
    MGI:MGI:1858500
    See related
    Ensembl:ENSMUSG00000034480 AllianceGenome:MGI:1858500
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Dia3; Drf2; Diap2; E430022I22Rik
    Summary
    Enables actin binding activity. Acts upstream of or within several processes, including actin filament polymerization; ephrin receptor signaling pathway; and plasma membrane bounded cell projection organization. Predicted to be located in endoplasmic reticulum and nucleolus. Predicted to be active in actin filament. Is expressed in brain and inner ear. Human ortholog(s) of this gene implicated in primary ovarian insufficiency and primary ovarian insufficiency 2A. Orthologous to human DIAPH2 (diaphanous related formin 2). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in bladder adult (RPKM 3.8), lung adult (RPKM 1.9) and 27 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Diaph2 in Genome Data Viewer
    Location:
    X E3; X 52.36 cM
    Exon count:
    29
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) X NC_000086.8 (128650409..129366583)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) X NC_000086.7 (129749668..130465834)

    Chromosome X - NC_000086.8Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_47921 Neighboring gene STARR-seq mESC enhancer starr_47922 Neighboring gene DnaJ (Hsp40) homolog, subfamily C, member 14 pseudogene Neighboring gene STARR-seq mESC enhancer starr_47925 Neighboring gene predicted gene, 18176 Neighboring gene STARR-seq mESC enhancer starr_47926 Neighboring gene STARR-seq mESC enhancer starr_47927 Neighboring gene STARR-seq mESC enhancer starr_47928 Neighboring gene STARR-seq mESC enhancer starr_47930 Neighboring gene STARR-seq mESC enhancer starr_47931 Neighboring gene replication protein A4 Neighboring gene STARR-seq mESC enhancer starr_47932 Neighboring gene STARR-seq mESC enhancer starr_47933 Neighboring gene predicted gene, 57828 Neighboring gene STARR-seq mESC enhancer starr_47934 Neighboring gene alpha-enolase-like Neighboring gene STARR-seq mESC enhancer starr_47935 Neighboring gene STARR-seq mESC enhancer starr_47936 Neighboring gene predicted gene 14987 Neighboring gene predicted gene 7781 Neighboring gene STARR-seq mESC enhancer starr_47939 Neighboring gene predicted gene, 25170

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Deficiency of mDia, an actin nucleator, disrupts integrity of neuroepithelium and causes periventricular dysplasia. Thumkeo D, et al. PLoS One, 2011. PMID 21980468, Free PMC Article
    2. mDia1/3 generate cortical F-actin meshwork in Sertoli cells that is continuous with contractile F-actin bundles and indispensable for spermatogenesis and male fertility. Sakamoto S, et al. PLoS Biol, 2018 Sep. PMID 30256801, Free PMC Article
    3. A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and implications for human sterility. Bione S, et al. Am J Hum Genet, 1998 Mar. PMID 9497258, Free PMC Article
    4. mDia and ROCK Mediate Actin-Dependent Presynaptic Remodeling Regulating Synaptic Efficacy and Anxiety. Deguchi Y, et al. Cell Rep, 2016 Nov 22. PMID 27880913
    5. In-depth genetic and molecular characterization of diaphanous related formin 2 (DIAPH2) and its role in the inner ear. Chiereghin C, et al. PLoS One, 2023. PMID 36689403, Free PMC Article

    See all (43) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. In-depth genetic and molecular characterization of diaphanous related formin 2 (DIAPH2) and its role in the inner ear.
      Title: In-depth genetic and molecular characterization of diaphanous related formin 2 (DIAPH2) and its role in the inner ear.
    2. individual and combined, CRISPR/Cas9-mediated disruption of genes encoding mDia1 and -3 formins in B16-F1 mouse melanoma cells revealed enhanced frequency of cells displaying multiple fronts, again accompanied by defects in cell polarization and migration
      Title: Functional integrity of the contractile actin cortex is safeguarded by multiple Diaphanous-related formins.
    3. Loss of mDia1/3 impaired these F-actin architectures, induced ectopic noncontractile espin1-containing F-actin bundles, and disrupted Sertoli cell-germ cell interaction, resulting in impaired spermatogenesis.
      Title: mDia1/3 generate cortical F-actin meshwork in Sertoli cells that is continuous with contractile F-actin bundles and indispensable for spermatogenesis and male fertility.
    4. mDia induces circumferential actin filaments around the edge of the synaptic cleft, which contract the presynaptic terminals in a ROCK-dependent manner.
      Title: mDia and ROCK Mediate Actin-Dependent Presynaptic Remodeling Regulating Synaptic Efficacy and Anxiety.
    5. These results imply that RhoD activated by FGF signaling forms cytoneme-like protrusions through activation of mDia3C, which induces actin filament formation
      Title: RhoD activated by fibroblast growth factor induces cytoneme-like cellular protrusions through mDia3C.
    6. study examined how mDia functions in axon guidance in vivo and in vitro; findings show mDia plays multiple roles in the proper formation of the neural network
      Title: EphA4-dependent axon retraction and midline localization of Ephrin-B3 are disrupted in the spinal cord of mice lacking mDia1 and mDia3 in combination.
    7. actin cytoskeleton regulated by Rho-mDia pathway is critical for the integrity of the adherens junctions and the polarity of neuroepithelial cells
      Title: Deficiency of mDia, an actin nucleator, disrupts integrity of neuroepithelium and causes periventricular dysplasia.
    8. analysis of interactions between mDia isoforms 1, 2, and 3 and RhoA, Rac1, and Cdc42
      Title: Specificity of interactions between mDia isoforms and Rho proteins.
    9. Cdc42, and its effector, mDia3, regulate microtubule attachment to kinetochores
      Title: Cdc42 and mDia3 regulate microtubule attachment to kinetochores.
    10. These results indicate that RhoA-dependent signaling through mDia1/2 and the MRTFs is important for SMC-specific gene expression in smooth muscle cells.
      Title: Diaphanous 1 and 2 regulate smooth muscle cell differentiation by activating the myocardin-related transcription factors.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables actin binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables small GTPase binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in actin filament polymerization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within actin filament polymerization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within axon midline choice point recognition IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within ephrin receptor signaling pathway IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within multicellular organismal locomotion IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within negative regulation of neuron projection regeneration IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within neuron projection retraction IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in oogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within protein localization IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in actin filament IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in intracellular membrane-bounded organelle ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleolus ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    protein diaphanous homolog 2
    Names
    diaphanous homolog 2

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_172493.3 → NP_766081.1  protein diaphanous homolog 2

      See identical proteins and their annotated locations for NP_766081.1

      Status: VALIDATED

      Source sequence(s)
      AL683856, AL683857, AL732443, AL807775, AL954869
      Consensus CDS
      CCDS53180.1
      UniProtKB/TrEMBL
      Q3U4Y4, Q6W4W7
      Related
      ENSMUSP00000039334.9, ENSMUST00000037854.15
      Conserved Domains (3) summary
      smart00498
      Location:630 → 1065
      FH2; Formin Homology 2 Domain
      pfam06367
      Location:295 → 483
      Drf_FH3; Diaphanous FH3 Domain
      pfam06371
      Location:104 → 287
      Drf_GBD; Diaphanous GTPase-binding Domain

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000086.8 Reference GRCm39 C57BL/6J

      Range
      128650409..129366583
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006528582.5 → XP_006528645.1  protein diaphanous homolog 2 isoform X2

      See identical proteins and their annotated locations for XP_006528645.1

      UniProtKB/Swiss-Prot
      O70566, Q8C2G8
      UniProtKB/TrEMBL
      Q3U4Y4
      Related
      ENSMUSP00000108946.3, ENSMUST00000113320.3
      Conserved Domains (3) summary
      smart00498
      Location:626 → 1061
      FH2; Formin Homology 2 Domain
      pfam06367
      Location:291 → 479
      Drf_FH3; Diaphanous FH3 Domain
      pfam06371
      Location:93 → 283
      Drf_GBD; Diaphanous GTPase-binding Domain

    2. XM_006528581.5 → XP_006528644.1  protein diaphanous homolog 2 isoform X1

      See identical proteins and their annotated locations for XP_006528644.1

      UniProtKB/TrEMBL
      K4PWM5, Q3U4Y4
      Conserved Domains (3) summary
      smart00498
      Location:637 → 1072
      FH2; Formin Homology 2 Domain
      pfam06367
      Location:302 → 490
      Drf_FH3; Diaphanous FH3 Domain
      pfam06371
      Location:104 → 294
      Drf_GBD; Diaphanous GTPase-binding Domain

    3. XM_036162018.1 → XP_036017911.1  protein diaphanous homolog 2 isoform X3

      UniProtKB/TrEMBL
      Q3U4Y4
      Conserved Domains (3) summary
      pfam06367
      Location:284 → 472
      Drf_FH3; Diaphanous FH3 Domain
      pfam02181
      Location:618 → 992
      FH2; Formin Homology 2 Domain
      pfam06371
      Location:93 → 276
      Drf_GBD; Diaphanous GTPase-binding Domain

    4. XM_030251385.2 → XP_030107245.1  protein diaphanous homolog 2 isoform X4

      Conserved Domains (3) summary
      pfam06367
      Location:302 → 490
      Drf_FH3; Diaphanous FH3 Domain
      pfam06371
      Location:104 → 294
      Drf_GBD; Diaphanous GTPase-binding Domain
      cl19758
      Location:637 → 689
      FH2; Formin Homology 2 Domain

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_017398.3: Suppressed sequence

      Description
      NM_017398.3: This RefSeq was permanently suppressed because the transcript has an intronic 3' end.
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O70566.2 GenPept UniProtKB/Swiss-Prot:O70566

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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