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Aliases for FHOD3 Gene

Aliases for FHOD3 Gene

  • Formin Homology 2 Domain Containing 3 2 3 5
  • Formin Homolog Overexpressed In Spleen 2 3 4
  • Formactin-2 3 4
  • FHOS2 3 4
  • Formactin2 3
  • KIAA1695 4
  • HFHOS2 4

External Ids for FHOD3 Gene

Previous GeneCards Identifiers for FHOD3 Gene

  • GC18P032344
  • GC18P032129
  • GC18P032131
  • GC18P033877
  • GC18P030735

Summaries for FHOD3 Gene

Entrez Gene Summary for FHOD3 Gene

  • The protein encoded by this gene is a member of the diaphanous-related formins (DRF), and contains multiple domains, including GBD (GTPase-binding domain), DID (diaphanous inhibitory domain), FH1 (formin homology 1), FH2 (formin homology 2), and DAD (diaphanous auto-regulatory domain) domains. This protein is thought to play a role in actin filament polymerization in cardiomyocytes. Mutations in this gene have been associated with dilated cardiomyopathy (DCM), characterized by dilation of the ventricular chamber, leading to impairment of systolic pump function and subsequent heart failure. Increased levels of the protein encoded by this gene have been observed in individuals with hypertrophic cardiomyopathy (HCM). Alternative splicing results in multiple transcript variants encoding different isoforms. A muscle-specific isoform has been shown to possess a casein kinase 2 (CK2) phosphorylation site at the C-terminal end of the FH2 domain. Phosphorylation of this site alters its interaction with sequestosome 1 (SQSTM1), and targets this isoform to myofibrils, while other isoforms form cytoplasmic aggregates. [provided by RefSeq, Aug 2015]

GeneCards Summary for FHOD3 Gene

FHOD3 (Formin Homology 2 Domain Containing 3) is a Protein Coding gene. Diseases associated with FHOD3 include hypertrophic cardiomyopathy and cardiomyopathy. GO annotations related to this gene include binding and actin binding. An important paralog of this gene is FHOD1.

UniProtKB/Swiss-Prot for FHOD3 Gene

  • Actin-organizing protein that may cause stress fiber formation together with cell elongation (By similarity). Isoform 4 may play a role in actin filament polymerization in cardiomyocytes.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FHOD3 Gene

Genomics for FHOD3 Gene

Regulatory Elements for FHOD3 Gene

Promoters for FHOD3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around FHOD3 on UCSC Golden Path with GeneCards custom track

Genomic Location for FHOD3 Gene

Chromosome:
18
Start:
36,297,696 bp from pter
End:
36,780,059 bp from pter
Size:
482,364 bases
Orientation:
Plus strand

Genomic View for FHOD3 Gene

Genes around FHOD3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FHOD3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FHOD3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FHOD3 Gene

Proteins for FHOD3 Gene

  • Protein details for FHOD3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q2V2M9-FHOD3_HUMAN
    Recommended name:
    FH1/FH2 domain-containing protein 3
    Protein Accession:
    Q2V2M9
    Secondary Accessions:
    • A8MQT4
    • E5F5Q0
    • Q642I2
    • Q6ZRQ7
    • Q86TF9
    • Q8N3A5
    • Q9C0G8
    • Q9H604
    • Q9H6G7

    Protein attributes for FHOD3 Gene

    Size:
    1422 amino acids
    Molecular mass:
    158613 Da
    Quaternary structure:
    • Interacts with nestin/NES-based interfilament (IF) (By similarity). Interacts with SQSTM1; isoform 4 threonine phosphorylation disrupts SQSTM1-binding.
    SequenceCaution:
    • Sequence=BAB15292.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB15463.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for FHOD3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FHOD3 Gene

Proteomics data for FHOD3 Gene at MOPED

Post-translational modifications for FHOD3 Gene

  • Isoform 4: Phosphorylated on Thr-1474 and Thr-1476 by CK2.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for FHOD3 Gene

Domains & Families for FHOD3 Gene

Protein Domains for FHOD3 Gene

Suggested Antigen Peptide Sequences for FHOD3 Gene

Graphical View of Domain Structure for InterPro Entry

Q2V2M9

UniProtKB/Swiss-Prot:

FHOD3_HUMAN :
  • The DAD domain regulates activation via by an autoinhibitory interaction with the GBD/FH3 domain. This autoinhibition is released upon competitive binding of an activated GTPase. The release of DAD allows the FH2 domain to then nucleate and elongate nonbranched actin filaments (By similarity).
  • Belongs to the formin homology family.
Domain:
  • The DAD domain regulates activation via by an autoinhibitory interaction with the GBD/FH3 domain. This autoinhibition is released upon competitive binding of an activated GTPase. The release of DAD allows the FH2 domain to then nucleate and elongate nonbranched actin filaments (By similarity).
  • Contains 1 DAD (diaphanous autoregulatory) domain.
  • Contains 1 FH1 (formin homology 1) domain.
  • Contains 1 FH2 (formin homology 2) domain.
  • Contains 1 GBD/FH3 (Rho GTPase-binding/formin homology 3) domain.
Family:
  • Belongs to the formin homology family.
genes like me logo Genes that share domains with FHOD3: view

No data available for Gene Families for FHOD3 Gene

Function for FHOD3 Gene

Molecular function for FHOD3 Gene

UniProtKB/Swiss-Prot Function:
Actin-organizing protein that may cause stress fiber formation together with cell elongation (By similarity). Isoform 4 may play a role in actin filament polymerization in cardiomyocytes.
genes like me logo Genes that share phenotypes with FHOD3: view

Animal Models for FHOD3 Gene

MGI Knock Outs for FHOD3:

Animal Model Products

miRNA for FHOD3 Gene

miRTarBase miRNAs that target FHOD3

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for FHOD3 Gene

Localization for FHOD3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FHOD3 Gene

Cytoplasm, cytoskeleton. Note=Main part of the protein localizes to actin fibers and the remaining part displays filamentous staining. {ECO:0000250}.
Isoform 4: Cytoplasm, myofibril, sarcomere, Z line. Note=Threonine phosphorylation in isoform 4-specific sequence TDTDEEEEVE is required for targeting to myofibrils in cardiomyocytes.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FHOD3 Gene COMPARTMENTS Subcellular localization image for FHOD3 gene
Compartment Confidence
cytoskeleton 4
cytosol 3
nucleus 3

Gene Ontology (GO) - Cellular Components for FHOD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with FHOD3: view

Pathways & Interactions for FHOD3 Gene

SuperPathways for FHOD3 Gene

No Data Available

Interacting Proteins for FHOD3 Gene

STRING Interaction Network Preview (showing 3 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000257209%0d%0a9606.ENSP00000374455%0d%0a9606.ENSP00000217244%0d%0a9606.ENSP00000295137%0d%0a
Selected Interacting proteins: Q2V2M9-FHOD3_HUMAN ENSP00000257209 for FHOD3 Gene via UniProtKB STRING

SIGNOR curated interactions for FHOD3 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for FHOD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0055003 cardiac myofibril assembly IEA --
genes like me logo Genes that share ontologies with FHOD3: view

No data available for Pathways by source for FHOD3 Gene

Drugs & Compounds for FHOD3 Gene

No Compound Related Data Available

Transcripts for FHOD3 Gene

Unigene Clusters for FHOD3 Gene

Formin homology 2 domain containing 3:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for FHOD3 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b · 9c ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20
SP1: - - - - - - -
SP2: -
SP3:
SP4: - - - - -
SP5: -
SP6:

Relevant External Links for FHOD3 Gene

GeneLoc Exon Structure for
FHOD3
ECgene alternative splicing isoforms for
FHOD3

Expression for FHOD3 Gene

mRNA expression in normal human tissues for FHOD3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FHOD3 Gene

This gene is overexpressed in Heart - Left Ventricle (x13.6) and Heart - Atrial Appendage (x4.5).

Protein differential expression in normal tissues from HIPED for FHOD3 Gene

This gene is overexpressed in Cervix (39.2) and Adrenal (19.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for FHOD3 Gene



SOURCE GeneReport for Unigene cluster for FHOD3 Gene Hs.630884

mRNA Expression by UniProt/SwissProt for FHOD3 Gene

Q2V2M9-FHOD3_HUMAN
Tissue specificity: Expressed in the heart, kidney and brain. May be down-regulated in various types of heart diseases, including idiopathic dilated, ventricular dilated, familial dilated and perinatal dilated cardiomyopathies, as well as ischemic heart disease (at protein level).
genes like me logo Genes that share expression patterns with FHOD3: view

Primer Products

In Situ Assay Products

No data available for Protein tissue co-expression partners for FHOD3 Gene

Orthologs for FHOD3 Gene

This gene was present in the common ancestor of animals.

Orthologs for FHOD3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FHOD3 36
  • 100 (a)
OneToOne
FHOD3 35
  • 99.37 (n)
  • 99.24 (a)
cow
(Bos Taurus)
Mammalia FHOD3 36
  • 93 (a)
OneToOne
FHOD3 35
  • 89.49 (n)
  • 93.18 (a)
dog
(Canis familiaris)
Mammalia FHOD3 35
  • 87.63 (n)
  • 90.06 (a)
FHOD3 36
  • 80 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fhod3 16
Fhod3 35
  • 85.45 (n)
  • 88.8 (a)
Fhod3 36
  • 81 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FHOD3 36
  • 69 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FHOD3 36
  • 73 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fhod3 35
  • 85.29 (n)
  • 88.43 (a)
chicken
(Gallus gallus)
Aves FHOD3 35
  • 75.09 (n)
  • 77.83 (a)
FHOD3 36
  • 69 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FHOD3 36
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fhod3 35
  • 67.42 (n)
  • 69.96 (a)
zebrafish
(Danio rerio)
Actinopterygii FHOD3 (1 of 2) 36
  • 63 (a)
OneToMany
FHOD3 (2 of 2) 36
  • 64 (a)
OneToMany
zgc:103746 35
  • 71.25 (n)
  • 78.75 (a)
fruit fly
(Drosophila melanogaster)
Insecta Fhos 36
  • 18 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea fhod-1 36
  • 28 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2479 36
  • 49 (a)
ManyToMany
Species with no ortholog for FHOD3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for FHOD3 Gene

ENSEMBL:
Gene Tree for FHOD3 (if available)
TreeFam:
Gene Tree for FHOD3 (if available)

Paralogs for FHOD3 Gene

Paralogs for FHOD3 Gene

(1) SIMAP similar genes for FHOD3 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with FHOD3: view

Variants for FHOD3 Gene

Sequence variations from dbSNP and Humsavar for FHOD3 Gene

SNP ID Clin Chr 18 pos Sequence Context AA Info Type
rs9964535 - 36,681,548(+) TAGAG(C/T)GGGAA reference, missense
rs487237 -- 36,677,188(+) agttt(G/T)gcttc intron-variant
rs487239 -- 36,322,540(+) TTGGG(G/T)GCCGG intron-variant
rs536188 -- 36,691,829(+) CAGCC(C/T)GCAAA intron-variant
rs537910 -- 36,675,214(+) GTGTC(C/T)CTGGC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for FHOD3 Gene

Variant ID Type Subtype PubMed ID
nsv522170 CNV Loss 19592680
esv2716960 CNV Deletion 23290073
esv2658053 CNV Deletion 23128226
nsv527769 CNV Loss 19592680
esv2656572 CNV Deletion 23128226
nsv828211 CNV Loss 20364138
dgv1023e1 CNV Complex 17122850
esv2664060 CNV Deletion 23128226
nsv833620 CNV Gain 17160897
nsv819365 CNV Loss 19587683
nsv909540 CNV Gain 21882294
esv2672452 CNV Deletion 23128226
nsv525007 CNV Loss 19592680
esv996876 CNV Insertion 20482838
nsv9625 CNV Loss 18304495
nsv513492 CNV Insertion 21212237
esv1752551 CNV Insertion 17803354
esv1093578 CNV Insertion 17803354
dgv1024e1 CNV Complex 17122850
esv21615 CNV Loss 19812545
nsv518778 CNV Loss 19592680
esv2656975 CNV Deletion 23128226
nsv909541 CNV Gain 21882294
nsv130624 CNV Loss 16902084
esv34228 CNV Gain 17911159
nsv817789 CNV Gain 17921354
nsv438280 CNV Loss 16468122
nsv2256 CNV Insertion 18451855
nsv9626 CNV Loss 18304495
nsv909542 CNV Gain 21882294
nsv909543 CNV Loss 21882294
esv2716961 CNV Deletion 23290073
nsv526596 CNV Gain 19592680
nsv909544 CNV Gain 21882294
nsv437823 CNV Loss 16327808
nsv436238 CNV Deletion 17901297
esv24629 CNV Loss 19812545
nsv442433 CNV CNV 18776908
nsv438282 CNV Loss 16468122
nsv132037 CNV Loss 16902084

Variation tolerance for FHOD3 Gene

Residual Variation Intolerance Score: 13.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 19.20; 98.80% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FHOD3 Gene

HapMap Linkage Disequilibrium report
FHOD3
Human Gene Mutation Database (HGMD)
FHOD3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FHOD3 Gene

Disorders for FHOD3 Gene

MalaCards: The human disease database

(2) MalaCards diseases for FHOD3 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
hypertrophic cardiomyopathy
  • familial hypertrophic cardiomyopathy
cardiomyopathy
  • cardiomyopathies
- elite association - COSMIC cancer census association via MalaCards
Search FHOD3 in MalaCards View complete list of genes associated with diseases

Relevant External Links for FHOD3

Genetic Association Database (GAD)
FHOD3
Human Genome Epidemiology (HuGE) Navigator
FHOD3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FHOD3
genes like me logo Genes that share disorders with FHOD3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FHOD3 Gene

Publications for FHOD3 Gene

  1. Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 11214970) Nagase T. … Ohara O. (DNA Res. 2000) 2 3 4 67
  2. Identification and characterization of human FHOD3 gene in silico. (PMID: 15010865) Katoh M. … Katoh M. (Int. J. Mol. Med. 2004) 3 23
  3. Genome-wide association study of periodontal health measured by probing depth in adults ages 18-49 years. (PMID: 24347629) Shaffer J.R. … Marazita M.L. (G3 (Bethesda) 2014) 3
  4. Dilated cardiomyopathy-associated FHOD3 variant impairs the ability to induce activation of transcription factor serum response factor. (PMID: 24088304) Arimura T. … Kimura A. (Circ. J. 2013) 3
  5. Formin homology 2 domain containing 3 variants associated with hypertrophic cardiomyopathy. (PMID: 23255317) Wooten E.C. … Huggins G.S. (Circ Cardiovasc Genet 2013) 3

Products for FHOD3 Gene

Sources for FHOD3 Gene

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