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

Gene ID: 54004, updated on 25-Apr-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 actin filament polymerization. Predicted to be located in endoplasmic reticulum and nucleolus. Is expressed in brain. 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, Apr 2022]
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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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
  • 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. 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
  2. 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
  3. mDia and ROCK Mediate Actin-Dependent Presynaptic Remodeling Regulating Synaptic Efficacy and Anxiety. Deguchi Y, et al. Cell Rep, 2016 Nov 22. PMID 27880913
  4. 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
  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 (40) 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.
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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 cytoskeleton organization IEA
Inferred from Electronic Annotation
more info
  
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 cell differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in cellular component organization IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within ephrin receptor signaling pathway IGI
Inferred from Genetic Interaction
more info
 PubMed 
acts_upstream_of_or_within multicellular organism development IEA
Inferred from Electronic Annotation
more info
  
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 
acts_upstream_of_or_within 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
    E9Q4U7, 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
    E9Q4U7
    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
    E9Q4U7, K4PWM5
    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
    E9Q4U7
    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

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