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    Inf2 inverted formin, FH2 and WH2 domain containing [ Mus musculus (house mouse) ]

    Gene ID: 70435, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Inf2provided by MGI
    Official Full Name
    inverted formin, FH2 and WH2 domain containingprovided by MGI
    Primary source
    MGI:MGI:1917685
    See related
    Ensembl:ENSMUSG00000037679 AllianceGenome:MGI:1917685
    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
    EG629699; 2610204M08Rik
    Summary
    Predicted to enable actin binding activity and small GTPase binding activity. Acts upstream of or within actin nucleation; gene expression; and regulation of cellular component size. Predicted to be located in perinuclear region of cytoplasm. Is expressed in several structures, including adipose tissue; alimentary system; genitourinary system; hemolymphoid system; and nervous system. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease dominant intermediate E and focal segmental glomerulosclerosis 5. Orthologous to human INF2 (inverted formin 2). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in cortex adult (RPKM 15.2), frontal lobe adult (RPKM 13.7) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Inf2 in Genome Data Viewer
    Location:
    12 F1; 12 61.2 cM
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 12 NC_000078.7 (112555121..112581991)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 12 NC_000078.6 (112588744..112615557)

    Chromosome 12 - NC_000078.7Genomic Context describing neighboring genes Neighboring gene transmembrane protein 179 Neighboring gene STARR-seq mESC enhancer starr_33351 Neighboring gene predicted gene, 53770 Neighboring gene predicted gene, 40584 Neighboring gene STARR-positive B cell enhancer ABC_E5358 Neighboring gene STARR-seq mESC enhancer starr_33358 Neighboring gene predicted gene, 30048 Neighboring gene STARR-positive B cell enhancer ABC_E7189 Neighboring gene STARR-positive B cell enhancer ABC_E5359 Neighboring gene STARR-positive B cell enhancer ABC_E5360 Neighboring gene STARR-positive B cell enhancer ABC_E3068 Neighboring gene adenylosuccinate synthase 1 Neighboring gene STARR-positive B cell enhancer ABC_E601 Neighboring gene predicted gene, 30101

    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. Mice with mutant Inf2 show impaired podocyte and slit diaphragm integrity in response to protamine-induced kidney injury. Subramanian B, et al. Kidney Int, 2016 Aug. PMID 27350175, Free PMC Article
    2. Inverted formin 2 regulates intracellular trafficking, placentation, and pregnancy outcome. Lamm KYB, et al. Elife, 2018 Jan 8. PMID 29309034, Free PMC Article
    3. Dysregulated Dynein-Mediated Trafficking of Nephrin Causes INF2-related Podocytopathy. Sun H, et al. J Am Soc Nephrol, 2021 Feb. PMID 33443052, Free PMC Article
    4. Mechanical stimulation induces formin-dependent assembly of a perinuclear actin rim. Shao X, et al. Proc Natl Acad Sci U S A, 2015 May 19. PMID 25941386, Free PMC Article
    5. An mDia1-INF2 formin activation cascade facilitated by IQGAP1 regulates stable microtubules in migrating cells. Bartolini F, et al. Mol Biol Cell, 2016 Jun 1. PMID 27030671, Free PMC Article

    See all (42) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Mechanisms of actin filament severing and elongation by formins.
      Title: Mechanisms of actin filament severing and elongation by formins.
    2. Dysregulated Dynein-Mediated Trafficking of Nephrin Causes INF2-related Podocytopathy.
      Title: Dysregulated Dynein-Mediated Trafficking of Nephrin Causes INF2-related Podocytopathy.
    3. we purified an INF2 inhibitor from mouse brain tissue, and identified it as a complex of lysine-acetylated actin (KAc-actin) and cyclase-associated protein (CAP). Inhibition of INF2 by CAP-KAc-actin is dependent on the INF2 diaphanous inhibitory domain (DID).
      Title: A complex containing lysine-acetylated actin inhibits the formin INF2.
    4. the pathogenesis of cerebral ischemia-reperfusion injury is associated with Nurr1 upregulation followed by augmented mitochondrial fission via an abnormal YAP-INF2 pathways
      Title: Nurr1 exacerbates cerebral ischemia-reperfusion injury via modulating YAP-INF2-mitochondrial fission pathways.
    5. These data support a critical regulatory role for INF2 in trophoblast invasion-a necessary process for placentation.
      Title: Inverted formin 2 regulates intracellular trafficking, placentation, and pregnancy outcome.
    6. In mice, normal INF2 function is not required for glomerular development but normal INF2 is required for regulation of the actin-based behaviors necessary for response to and/or recovery from injury.
      Title: Mice with mutant Inf2 show impaired podocyte and slit diaphragm integrity in response to protamine-induced kidney injury.
    7. Data highlight a unique mechanism of formin action in which mDia1 and INF2 function in series to stabilize MTs and point to IQGAP1 as a scaffold that facilitates the activation of one formin by another.
      Title: An mDia1-INF2 formin activation cascade facilitated by IQGAP1 regulates stable microtubules in migrating cells.
    8. The perinuclear actin rim structure colocalized with INF2 on stimulation, and INF2 depletion resulted in attenuation of the rim formation.
      Title: Mechanical stimulation induces formin-dependent assembly of a perinuclear actin rim.
    9. Splice variant-specific cellular function of the formin INF2 in maintenance of Golgi architecture.
      Title: Splice variant-specific cellular function of the formin INF2 in maintenance of Golgi architecture.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Targeted (3)  1 citation

    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

    Clone Names

    • MGC107363, MGC143801, MGC143802

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables actin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    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
    acts_upstream_of_or_within actin nucleation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within gene expression IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within regulation of cellular component size IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within regulation of mitochondrial fission ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in perinuclear region of cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    inverted formin-2
    Names
    formin, inverted

    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_001374199.1 → NP_001361128.1  inverted formin-2 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC124373
      UniProtKB/Swiss-Prot
      Q0GNC1, Q14C56, Q499F7, Q6P9T3
      Conserved Domains (5) summary
      smart00246
      Location:1005 → 1020
      WH2; Wiskott Aldrich syndrome homology region 2
      PHA03307
      Location:1034 → 1262
      PHA03307; transcriptional regulator ICP4; Provisional
      pfam06367
      Location:156 → 341
      Drf_FH3; Diaphanous FH3 Domain
      pfam06371
      Location:14 → 152
      Drf_GBD; Diaphanous GTPase-binding Domain
      cl19758
      Location:587 → 951
      FH2; Formin Homology 2 Domain

    2. NM_198411.3 → NP_940803.2  inverted formin-2 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC124373
      Consensus CDS
      CCDS36571.1
      UniProtKB/Swiss-Prot
      Q0GNC1, Q14C56, Q499F7, Q6P9T3
      UniProtKB/TrEMBL
      E9QLA5
      Related
      ENSMUSP00000098591.3, ENSMUST00000101029.4
      Conserved Domains (5) summary
      smart00246
      Location:1005 → 1020
      WH2; Wiskott Aldrich syndrome homology region 2
      PHA03307
      Location:1034 → 1259
      PHA03307; transcriptional regulator ICP4; Provisional
      pfam06367
      Location:156 → 341
      Drf_FH3; Diaphanous FH3 Domain
      pfam06371
      Location:14 → 152
      Drf_GBD; Diaphanous GTPase-binding Domain
      cl19758
      Location:587 → 951
      FH2; Formin Homology 2 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_000078.7 Reference GRCm39 C57BL/6J

      Range
      112555121..112581991
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030246906.2 → XP_030102766.1  inverted formin-2 isoform X2

      UniProtKB/Swiss-Prot
      Q0GNC1, Q14C56, Q499F7, Q6P9T3
      Conserved Domains (5) summary
      smart00246
      Location:1005 → 1020
      WH2; Wiskott Aldrich syndrome homology region 2
      PHA03307
      Location:1034 → 1278
      PHA03307; transcriptional regulator ICP4; Provisional
      pfam06367
      Location:156 → 341
      Drf_FH3; Diaphanous FH3 Domain
      pfam06371
      Location:14 → 152
      Drf_GBD; Diaphanous GTPase-binding Domain
      cl19758
      Location:587 → 951
      FH2; Formin Homology 2 Domain

    2. XM_030246905.2 → XP_030102765.1  inverted formin-2 isoform X1

      UniProtKB/Swiss-Prot
      Q0GNC1, Q14C56, Q499F7, Q6P9T3
      Conserved Domains (5) summary
      smart00246
      Location:1005 → 1020
      WH2; Wiskott Aldrich syndrome homology region 2
      PHA03307
      Location:1034 → 1278
      PHA03307; transcriptional regulator ICP4; Provisional
      pfam06367
      Location:156 → 341
      Drf_FH3; Diaphanous FH3 Domain
      pfam06371
      Location:14 → 152
      Drf_GBD; Diaphanous GTPase-binding Domain
      cl19758
      Location:587 → 951
      FH2; Formin Homology 2 Domain

    3. XM_030246907.2 → XP_030102767.1  inverted formin-2 isoform X3

      UniProtKB/Swiss-Prot
      Q0GNC1, Q14C56, Q499F7, Q6P9T3
      Conserved Domains (5) summary
      smart00246
      Location:1005 → 1020
      WH2; Wiskott Aldrich syndrome homology region 2
      PHA03307
      Location:1026 → 1251
      PHA03307; transcriptional regulator ICP4; Provisional
      pfam06367
      Location:156 → 341
      Drf_FH3; Diaphanous FH3 Domain
      pfam06371
      Location:14 → 152
      Drf_GBD; Diaphanous GTPase-binding Domain
      cl19758
      Location:587 → 951
      FH2; Formin Homology 2 Domain

    4. XM_030246909.2 → XP_030102769.1  inverted formin-2 isoform X4

      Conserved Domains (3) summary
      pfam06367
      Location:156 → 341
      Drf_FH3; Diaphanous FH3 Domain
      pfam06371
      Location:14 → 152
      Drf_GBD; Diaphanous GTPase-binding Domain
      cl19758
      Location:587 → 743
      FH2; Formin Homology 2 Domain

    5. XM_030246910.2 → XP_030102770.1  inverted formin-2 isoform X5

      Conserved Domains (3) summary
      pfam06367
      Location:156 → 341
      Drf_FH3; Diaphanous FH3 Domain
      pfam06371
      Location:14 → 152
      Drf_GBD; Diaphanous GTPase-binding Domain
      cl19758
      Location:587 → 743
      FH2; Formin Homology 2 Domain

    6. XM_036157610.1 → XP_036013503.1  inverted formin-2 isoform X6

      Conserved Domains (3) summary
      PHA03307
      Location:346 → 574
      PHA03307; transcriptional regulator ICP4; Provisional
      cd22061
      Location:309 → 338
      WH2_INF2; Wiskott Aldrich syndrome homology region 2 (WH2 motif) found in Inverted formin-2 (INF2)
      cl19758
      Location:1 → 263
      FH2; Formin Homology 2 Domain

    RNA

    1. XR_003950077.2 RNA Sequence

    2. XR_003950078.2 RNA Sequence

    3. XR_004937541.1 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q0GNC1.1 GenPept UniProtKB/Swiss-Prot:Q0GNC1

    Gene LinkOut

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

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