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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
  • FH1/FH2 Domain-Containing Protein 3 3
  • 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 Dilated 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 CIViC summary , 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

Enhancers for FHOD3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH18G036075 1.2 Ensembl ENCODE 10.4 -221.6 -221591 1.3 ELF3 PKNOX1 FOXA2 NFRKB SIN3A RELB FOS IKZF2 THAP11 SMARCC1 RPRD1A MOCOS FHOD3 C18orf21 GC18P036078
GH18G036365 1.1 ENCODE dbSUPER 10.2 +67.9 67899 0.8 MXI1 TBL1XR1 WRNIP1 BACH1 MAX EBF1 ARID3A ZNF207 FOS RELB FHOD3 GC18P036374
GH18G036390 0.5 ENCODE dbSUPER 21.8 +94.8 94755 3.5 FHOD3 GC18P036374 LOC105372071
GH18G036386 0.5 dbSUPER 21.4 +89.6 89599 2.2 PKNOX1 PRDM10 EP300 FHOD3 GC18P036374 LOC105372071
GH18G036017 1 Ensembl ENCODE 10.6 -279.9 -279895 0.4 CTCF NFXL1 RAD21 ZNF316 POLR2A ZNF143 SMC3 MAFK ZNF654 MTA2 C18orf21 FHOD3 MOCOS GC18M035972 RPRD1A
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FHOD3 on UCSC Golden Path with GeneCards custom track

Promoters for FHOD3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000102293 104 2400 RAD21 GLIS2 RELB ZNF391 IKZF2 ZNF654 ZEB2 GATAD2B REST ZNF610

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

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).
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.

Gene Ontology (GO) - Molecular Function for FHOD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA --
GO:0005515 protein binding IPI 21149568
genes like me logo Genes that share ontologies with FHOD3: view
genes like me logo Genes that share phenotypes with FHOD3: view

Animal Models for FHOD3 Gene

MGI Knock Outs for FHOD3:

Animal Model Products

CRISPR Products

miRNA for FHOD3 Gene

miRTarBase miRNAs that target FHOD3

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FHOD3 gene
Compartment Confidence
cytoskeleton 3
nucleus 3
cytosol 3

Gene Ontology (GO) - Cellular Components for FHOD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005865 striated muscle thin filament IEA --
GO:0030017 sarcomere IEA --
GO:0030018 Z disc IEA --
genes like me logo Genes that share ontologies with FHOD3: view

Pathways & Interactions for FHOD3 Gene

SuperPathways for FHOD3 Gene

No Data Available

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:0007015 actin filament organization IEA --
GO:0030837 negative regulation of actin filament polymerization IEA --
GO:0045214 sarcomere organization IEA --
GO:0051639 actin filament network formation IEA --
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

Transcripts for FHOD3 Gene

Unigene Clusters for FHOD3 Gene

Formin homology 2 domain containing 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for FHOD3 Gene



NURSA nuclear receptor signaling pathways regulating expression of FHOD3 Gene:

FHOD3

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).

Evidence on tissue expression from TISSUES for FHOD3 Gene

  • Nervous system(4.5)
  • Intestine(4.2)
  • Heart(2.5)
genes like me logo Genes that share expression patterns with FHOD3: view

Primer Products

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 34 35
  • 99.37 (n)
cow
(Bos Taurus)
Mammalia FHOD3 34 35
  • 89.49 (n)
dog
(Canis familiaris)
Mammalia FHOD3 34 35
  • 87.63 (n)
mouse
(Mus musculus)
Mammalia Fhod3 34 16 35
  • 85.45 (n)
rat
(Rattus norvegicus)
Mammalia Fhod3 34
  • 85.29 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia FHOD3 35
  • 73 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FHOD3 35
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves FHOD3 34 35
  • 75.09 (n)
lizard
(Anolis carolinensis)
Reptilia FHOD3 35
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fhod3 34
  • 67.42 (n)
zebrafish
(Danio rerio)
Actinopterygii zgc:103746 34
  • 71.25 (n)
FHOD3 (2 of 2) 35
  • 64 (a)
OneToMany
FHOD3 (1 of 2) 35
  • 63 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Fhos 35
  • 18 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea fhod-1 35
  • 28 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2479 35
  • 49 (a)
ManyToMany
Species where no ortholog for FHOD3 was found in the sources mined by GeneCards:
  • 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
rs1000012229 -- 36,580,176(+) CCCAT(A/C)CTACA intron-variant
rs1000017632 -- 36,497,387(+) CTGAA(G/T)AGTAA intron-variant
rs1000018527 -- 36,374,835(+) TTGTT(A/T)ATGTT intron-variant
rs1000026261 -- 36,483,756(+) TCGCC(A/G)TCGGA intron-variant
rs1000028051 -- 36,542,268(+) TCCAC(A/G)GTTAA intron-variant

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

Variant ID Type Subtype PubMed ID
esv1093578 CNV insertion 17803354
esv1752551 CNV insertion 17803354
esv21615 CNV loss 19812545
esv24629 CNV loss 19812545
esv2656572 CNV deletion 23128226
esv2656975 CNV deletion 23128226
esv2658053 CNV deletion 23128226
esv2664060 CNV deletion 23128226
esv2672452 CNV deletion 23128226
esv2716960 CNV deletion 23290073
esv2716961 CNV deletion 23290073
esv2758721 CNV gain 17122850
esv2758722 CNV gain 17122850
esv3347088 CNV duplication 20981092
esv3369397 CNV duplication 20981092
esv34228 CNV gain 17911159
esv3429064 CNV duplication 20981092
esv3555235 CNV deletion 23714750
esv3583014 CNV loss 25503493
esv3583016 CNV loss 25503493
esv3583017 CNV loss 25503493
esv3583018 CNV loss 25503493
esv3642224 CNV loss 21293372
esv3642225 CNV loss 21293372
esv3642226 CNV loss 21293372
esv3642227 CNV loss 21293372
esv3642228 CNV loss 21293372
esv3642229 CNV loss 21293372
esv3642230 CNV loss 21293372
esv3642232 CNV loss 21293372
esv3642233 CNV gain 21293372
esv3642234 CNV gain 21293372
esv3642236 CNV loss 21293372
esv3642237 CNV gain 21293372
esv3642238 CNV loss 21293372
esv996876 CNV insertion 20482838
nsv1064616 CNV gain 25217958
nsv1067355 CNV loss 25217958
nsv1134710 CNV deletion 24896259
nsv1136251 CNV deletion 24896259
nsv130624 CNV deletion 16902084
nsv132037 CNV deletion 16902084
nsv2256 CNV insertion 18451855
nsv436238 CNV deletion 17901297
nsv437823 CNV loss 16327808
nsv438280 CNV loss 16468122
nsv438282 CNV loss 16468122
nsv442433 CNV gain+loss 18776908
nsv473480 CNV novel sequence insertion 20440878
nsv477797 CNV novel sequence insertion 20440878
nsv513492 CNV insertion 21212237
nsv518778 CNV loss 19592680
nsv522170 CNV loss 19592680
nsv525007 CNV loss 19592680
nsv526596 CNV gain 19592680
nsv527769 CNV loss 19592680
nsv576651 CNV loss 21841781
nsv817789 CNV gain 17921354
nsv819365 CNV loss 19587683
nsv828211 CNV loss 20364138
nsv833620 CNV gain 17160897
nsv9625 CNV loss 18304495
nsv9626 CNV loss 18304495

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

Human Gene Mutation Database (HGMD)
FHOD3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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
dilated cardiomyopathy
  • congestive 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 64
  2. Genomewide pharmacogenomic study of metabolic side effects to antipsychotic drugs. (PMID: 20195266) Adkins D.E. … van den Oord E.J. (Mol. Psychiatry 2011) 3 46 64
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  4. Formin follows function: a muscle-specific isoform of FHOD3 is regulated by CK2 phosphorylation and promotes myofibril maintenance. (PMID: 21149568) Iskratsch T. … Ehler E. (J. Cell Biol. 2010) 3 4 64
  5. Fhos2, a novel formin-related actin-organizing protein, probably associates with the nestin intermediate filament. (PMID: 15966898) Kanaya H. … Sumimoto H. (Genes Cells 2005) 3 4 64

Products for FHOD3 Gene

Sources for FHOD3 Gene

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