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

    Gene ID: 225288, updated on 27-Nov-2024

    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
    NEW
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    Try the new Transcript table

    Genomic context

    See Fhod3 in Genome Data Viewer
    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_000084.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E8706 Neighboring gene STARR-positive B cell enhancer mm9_chr18:24835661-24835962 Neighboring gene elongator acetyltransferase complex subunit 2 Neighboring gene molybdenum cofactor sulfurase Neighboring gene STARR-seq mESC enhancer starr_44073 Neighboring gene 39S ribosomal protein L42, mitochondrial pseudogene Neighboring gene STARR-seq mESC enhancer starr_44075 Neighboring gene expressed sequence AW554918 Neighboring gene tubulin polyglutamylase complex subunit 2 Neighboring gene STARR-seq mESC enhancer starr_44077 Neighboring gene STARR-seq mESC enhancer starr_44078 Neighboring gene STARR-seq mESC enhancer starr_44080 Neighboring gene predicted gene, 32825 Neighboring gene CUGBP, Elav-like family member 4

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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
     
    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

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001289654.1NP_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:8881259
      FH2; Formin Homology 2 Domain
    2. NM_001289655.1NP_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:10071378
      FH2; Formin Homology 2 Domain
    3. NM_001403900.1NP_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
    4. NM_175276.4NP_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:327513
      PHA03307; transcriptional regulator ICP4; Provisional
      pfam02181
      Location:10391410
      FH2; Formin Homology 2 Domain
      pfam18382
      Location:6103
      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

    1. NC_000084.7 Reference GRCm39 C57BL/6J

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

    mRNA and Protein(s)

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

      Conserved Domains (2) summary
      pfam02181
      Location:8881259
      FH2; Formin Homology 2 Domain
      pfam18382
      Location:6103
      Formin_GBD_N; Formin N-terminal GTPase-binding domain
    2. XM_006525830.4XP_006525893.1  FH1/FH2 domain-containing protein 3 isoform X3

      Conserved Domains (2) summary
      pfam02181
      Location:8531224
      FH2; Formin Homology 2 Domain
      pfam18382
      Location:6103
      Formin_GBD_N; Formin N-terminal GTPase-binding domain