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

Gene ID: 70435, updated on 4-May-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 regulation of cellular component size. Predicted to be located in perinuclear region of cytoplasm. Is expressed in several structures, including adipose tissue; alimentary system; hemolymphoid system; nervous system; and reproductive 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, Apr 2022]
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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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. 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
  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. 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
  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. A complex containing lysine-acetylated actin inhibits the formin INF2. A M, et al. Nat Cell Biol, 2019 May. PMID 30962575, Free PMC Article

See all (35) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Dysregulated Dynein-Mediated Trafficking of Nephrin Causes INF2-related Podocytopathy.
    Title: Dysregulated Dynein-Mediated Trafficking of Nephrin Causes INF2-related Podocytopathy.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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)
  • Targeted (3)  1 citation
  • Endonuclease-mediated (2) 

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
involved_in actin cytoskeleton organization IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within actin nucleation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in cellular component organization IEA
Inferred from Electronic Annotation
more info
  
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 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

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