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

Summary

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 cardiac myofibril assembly; negative regulation of actin filament polymerization; and sarcomere organization. Predicted to be located in striated muscle thin filament. Predicted to be active in cytoplasm and cytoskeleton. Is expressed in several structures, including central nervous system; genitourinary system; gut; heart; and musculoskeletal system. Human ortholog(s) of this gene implicated in familial hypertrophic cardiomyopathy. Orthologous to human FHOD3 (formin homology 2 domain containing 3). [provided by Alliance of Genome Resources, Nov 2024]
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

Location:: 18 A2; 18 13.18 cM

Exon count:: 28

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	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_000084.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Altered Fhod3 expression involved in progressive high-frequency hearing loss via dysregulation of actin polymerization stoichiometry in the cuticular plate.
Title: Altered Fhod3 expression involved in progressive high-frequency hearing loss via dysregulation of actin polymerization stoichiometry in the cuticular plate.
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.
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.
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.
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.
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.
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.
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.
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)

Endonuclease-mediated (1)
Targeted (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

12.MMHAP18FLD3.seq (e-PCR)
- UniSTS:123104

D18Mit22 (e-PCR), detects polymorphism
- UniSTS:128237

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

Process	Evidence Code	Pubs
involved_in cardiac myofibril assembly	IBA Inferred from Biological aspect of Ancestor more info
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
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
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
located_in Z disc	IEA Inferred from Electronic Annotation more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
is_active_in cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info
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)

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

Status: VALIDATED

Source sequence(s)

AC124441, AC132421, AC138769

UniProtKB/TrEMBL

A0AAQ4VMT4

Related

ENSMUSP00000159985.1, ENSMUST00000249888.1
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

B2RQR3, Q5DTV7, Q76HP7, 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: 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

NC_000084.7 Reference GRCm39 C57BL/6J

Range

24841445..25266564

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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