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Fhod3 formin homology 2 domain containing 3 [ Mus musculus (house mouse) ]

Gene ID: 225288, updated on 13-Oct-2022

Summary

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Official Symbol
Fhod3provided by MGI
Official Full Name
formin homology 2 domain containing 3provided by MGI
Primary source
MGI:MGI:1925847
See related
Ensembl:ENSMUSG00000034295 AllianceGenome:MGI:1925847
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
FHOS2; mKIAA1695; A930009H06Rik
Summary
Predicted to enable actin filament binding activity. Acts upstream of or within actin cytoskeleton organization and negative regulation of actin filament polymerization. Located in sarcomere. Is expressed in several structures, including axial skeleton; central nervous system; gut; heart; and metanephros. Human ortholog(s) of this gene implicated in hypertrophic cardiomyopathy. Orthologous to human FHOD3 (formin homology 2 domain containing 3). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in heart adult (RPKM 21.5), bladder adult (RPKM 13.4) and 11 other tissues See more
Orthologs
human all
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Genomic context

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See Fhod3 in Genome Data Viewer
Location:
18; 18 A2
Exon count:
28
Annotation release Status Assembly Chr Location
109 current GRCm39 (GCF_000001635.27) 18 NC_000084.7 (24841445..25266564)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 18 NC_000084.6 (24708388..25133507)

Chromosome 18 - NC_000084.7Genomic Context describing neighboring genes Neighboring gene elongator acetyltransferase complex subunit 2 Neighboring gene molybdenum cofactor sulfurase Neighboring gene 39S ribosomal protein L42, mitochondrial pseudogene Neighboring gene expressed sequence AW554918 Neighboring gene tubulin polyglutamylase complex subunit 2 Neighboring gene predicted gene, 32825 Neighboring gene CUGBP, Elav-like family member 4

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. Fhod3 Controls the Dendritic Spine Morphology of Specific Subpopulations of Pyramidal Neurons in the Mouse Cerebral Cortex. Sulistomo HW, et al. Cereb Cortex, 2021 Mar 5. PMID 33251537
  2. Crucial Role of ROCK2-Mediated Phosphorylation and Upregulation of FHOD3 in the Pathogenesis of Angiotensin II-Induced Cardiac Hypertrophy. Zhou Q, et al. Hypertension, 2017 Jun. PMID 28438902
  3. Transgenic Expression of the Formin Protein Fhod3 Selectively in the Embryonic Heart: Role of Actin-Binding Activity of Fhod3 and Its Sarcomeric Localization during Myofibrillogenesis. Fujimoto N, et al. PLoS One, 2016. PMID 26848968, Free PMC Article
  4. Mammalian formin Fhod3 plays an essential role in cardiogenesis by organizing myofibrillogenesis. Kan-O M, et al. Biol Open, 2012 Sep 15. PMID 23213483, Free PMC Article
  5. Fhod1, an actin-organizing formin family protein, is dispensable for cardiac development and function in mice. Sanematsu F, et al. Cytoskeleton (Hoboken), 2019 Feb. PMID 31008549

See all (29) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Fhod3 Controls the Dendritic Spine Morphology of Specific Subpopulations of Pyramidal Neurons in the Mouse Cerebral Cortex.
    Title: Fhod3 Controls the Dendritic Spine Morphology of Specific Subpopulations of Pyramidal Neurons in the Mouse Cerebral Cortex.
  2. Perinatal KO of Fhod3 in the heart caused juvenile lethality at around day 10 after birth with enlarged hearts composed of severely impaired myofibrils, indicating that Fhod3 is crucial for postnatal heart development.
    Title: The actin-organizing formin protein Fhod3 is required for postnatal development and functional maintenance of the adult heart in mice.
  3. these findings suggest the possibility that Fhod3 contributes to the pathogenesis of cMyBP-C-related cardiomyopathy and that Fhod3 is critically involved in cMyBP-C-mediated regulation of cardiac function via direct interaction.
    Title: Interaction between cardiac myosin-binding protein C and formin Fhod3.
  4. Up regulation of FHOD3 play a crucial role in the pathogenesis of cardiac hypertrophy in mouse model.
    Title: Crucial Role of ROCK2-Mediated Phosphorylation and Upregulation of FHOD3 in the Pathogenesis of Angiotensin II-Induced Cardiac Hypertrophy.
  5. during embryonic cardiogenesis, Fhod3 functions as the essential reorganizer of actin filaments at the central region of maturating sarcomeres via the actin-binding activity of the FH2 domain
    Title: Transgenic Expression of the Formin Protein Fhod3 Selectively in the Embryonic Heart: Role of Actin-Binding Activity of Fhod3 and Its Sarcomeric Localization during Myofibrillogenesis.
  6. Analysis of casein kinase 2 alpha knockout mice showed that phosphorylation by casein kinase 2 is also required for proper targeting of muscle Fhod3 to the myofibrils in embryonic cardiomyocytes in situ.
    Title: Two distinct phosphorylation events govern the function of muscle FHOD3.
  7. embryonic heart of mice specifically expresses the Fhod3 mRNA isoform harboring the three alternative exons
    Title: Expression and subcellular localization of mammalian formin Fhod3 in the embryonic and adult heart.
  8. actin dynamics regulated by Fhod3 are critical for sarcomere organization in striated muscle cells.
    Title: Mammalian formin fhod3 regulates actin assembly and sarcomere organization in striated muscles.
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Variation

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Alleles

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

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • KIAA1695

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables actin binding IEA
Inferred from Electronic Annotation
more info
  
enables actin filament binding IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
Process Evidence Code Pubs
involved_in cardiac myofibril assembly IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
acts_upstream_of_or_within cardiac myofibril assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in cortical actin cytoskeleton organization IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
acts_upstream_of_or_within negative regulation of actin filament polymerization IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in sarcomere organization IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
acts_upstream_of_or_within sarcomere organization IGI
Inferred from Genetic Interaction
more info
 PubMed 
acts_upstream_of_or_within sarcomere organization ISO
Inferred from Sequence Orthology
more info
  
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
is_active_in cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
located_in striated muscle thin filament ISO
Inferred from Sequence Orthology
more info
  

General protein information

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Preferred Names
FH1/FH2 domain-containing protein 3
Names
formin homolog overexpressed in spleen 2
formin-family protein FHOS2

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_001289654.1 → NP_001276583.1  FH1/FH2 domain-containing protein 3 isoform 2

    See identical proteins and their annotated locations for NP_001276583.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks two alternate in-frame exons in the coding region, compared to variant 1. This results in a shorter isoform (2), compared to isoform 1.
    Source sequence(s)
    AB078609, AK046161, BQ176384
    Consensus CDS
    CCDS89203.1
    UniProtKB/Swiss-Prot
    Q76LL6
    Related
    ENSMUSP00000157226.2, ENSMUST00000234834.2
    Conserved Domains (1) summary
    pfam02181
    Location:888 → 1259
    FH2; Formin Homology 2 Domain

  2. NM_001289655.1 → NP_001276584.1  FH1/FH2 domain-containing protein 3 isoform 3

    See identical proteins and their annotated locations for NP_001276584.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks an alternate in-frame exon in the coding region, compared to variant 1. This results in a shorter isoform (3), compared to isoform 1.
    Source sequence(s)
    AB100088, AK046161, BQ176384
    Consensus CDS
    CCDS89202.1
    UniProtKB/Swiss-Prot
    Q76LL6
    Related
    ENSMUSP00000157193.2, ENSMUST00000234526.2
    Conserved Domains (1) summary
    pfam02181
    Location:1007 → 1378
    FH2; Formin Homology 2 Domain

  3. NM_001403900.1 → NP_001390829.1  FH1/FH2 domain-containing protein 3 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC124441, AC132421, AC138769

  4. NM_175276.4 → NP_780485.2  FH1/FH2 domain-containing protein 3 isoform 1

    See identical proteins and their annotated locations for NP_780485.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AB078608, AK046161, BQ176384
    Consensus CDS
    CCDS29104.1
    UniProtKB/Swiss-Prot
    Q76LL5, Q76LL6
    Related
    ENSMUSP00000041361.8, ENSMUST00000037097.9
    Conserved Domains (3) summary
    PHA03307
    Location:327 → 513
    PHA03307; transcriptional regulator ICP4; Provisional
    pfam02181
    Location:1039 → 1410
    FH2; Formin Homology 2 Domain
    pfam18382
    Location:6 → 103
    Formin_GBD_N; Formin N-terminal GTPase-binding domain

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000084.7 Reference GRCm39 C57BL/6J

    Range
    24841445..25266564
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006525826.4 → XP_006525889.1  FH1/FH2 domain-containing protein 3 isoform X1

    Conserved Domains (3) summary
    PHA03307
    Location:327 → 513
    PHA03307; transcriptional regulator ICP4; Provisional
    pfam02181
    Location:1039 → 1410
    FH2; Formin Homology 2 Domain
    pfam18382
    Location:6 → 103
    Formin_GBD_N; Formin N-terminal GTPase-binding domain

  2. XM_006525828.4 → XP_006525891.1  FH1/FH2 domain-containing protein 3 isoform X2

    Conserved Domains (2) summary
    pfam02181
    Location:888 → 1259
    FH2; Formin Homology 2 Domain
    pfam18382
    Location:6 → 103
    Formin_GBD_N; Formin N-terminal GTPase-binding domain

  3. XM_006525830.4 → XP_006525893.1  FH1/FH2 domain-containing protein 3 isoform X3

    Conserved Domains (2) summary
    pfam02181
    Location:853 → 1224
    FH2; Formin Homology 2 Domain
    pfam18382
    Location:6 → 103
    Formin_GBD_N; Formin N-terminal GTPase-binding domain
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q76LL6.1 GenPept UniProtKB/Swiss-Prot:Q76LL6

Gene LinkOut

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