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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]
FHOD3 (Formin Homology 2 Domain Containing 3) is a Protein Coding gene. Diseases associated with FHOD3 include Hypertrophic Cardiomyopathy and Hemochromatosis, Type 2B. Gene Ontology (GO) annotations related to this gene include binding and actin binding. An important paralog of this gene is FHOD1.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH18J036296 | Promoter/Enhancer | 2.2 | EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER | 602.2 | +0.5 | 487 | 4.4 | CTCF PRDM10 IKZF1 ZNF692 BACH1 LARP7 PRDM1 ZIC2 POLR2A PATZ1 | FHOD3 lnc-MOCOS-4 KIAA1328 | |
GH18J036718 | Promoter | 0.3 | EPDnew | 600 | +420.8 | 420790 | 0.1 | FHOD3 lnc-TPGS2-11 LOC105372071 KIAA1328 | ||
GH18J036390 | Enhancer | 0.8 | Ensembl ENCODE dbSUPER | 21.8 | +94.2 | 94246 | 4.5 | ATF7 POLR2A ATF2 JUND | FHOD3 lnc-MOCOS-4 ENSG00000286890 KIAA1328 | |
GH18J036386 | Enhancer | 0.6 | Ensembl dbSUPER | 21.4 | +89.3 | 89288 | 1.6 | PRDM10 POLR2A PKNOX1 | FHOD3 lnc-MOCOS-4 ENSG00000286890 KIAA1328 | |
GH18J036329 | Enhancer | 1 | Ensembl ENCODE dbSUPER | 11.6 | +33.1 | 33088 | 4 | ZIC2 IKZF2 PKNOX1 EED DPF2 RUNX3 GATAD2B TCF12 YY1 ZFHX2 | FHOD3 KIAA1328 lnc-MOCOS-4 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003779 | actin binding | IEA | -- |
GO:0005515 | protein binding | IPI | 21149568 |
GO:0051015 | actin filament binding | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA,IBA | 21873635 |
GO:0005856 | cytoskeleton | IEA,IBA | 21873635 |
GO:0005865 | striated muscle thin filament | IEA,IBA | 21873635 |
GO:0030018 | Z disc | IEA | -- |
Symbol | External ID(s) | Details |
---|---|---|
SQSTM1 | ||
CSNK2A1 | ||
ENSG00000272822 | ||
ABI1 | ||
ABI2 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007015 | actin filament organization | IEA | -- |
GO:0030837 | negative regulation of actin filament polymerization | IEA | -- |
GO:0030866 | cortical actin cytoskeleton organization | IBA | 21873635 |
GO:0045214 | sarcomere organization | IEA,IBA | 21873635 |
GO:0051639 | actin filament network formation | IBA | 21873635 |
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: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | FHOD3 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | FHOD3 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | FHOD3 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Fhod3 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Fhod3 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | FHOD3 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | FHOD3 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | FHOD3 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | FHOD3 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | fhod3 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | zgc:103746 30 |
|
||
FHOD3 (2 of 2) 31 |
|
OneToMany | |||
FHOD3 (1 of 2) 31 |
|
OneToMany | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | Fhos 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | fhod-1 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.2479 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 18 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
709375 | Likely Benign: not provided | 36,718,214(+) | G/A | SYNONYMOUS_VARIANT | |
713615 | Benign: not provided | 36,612,056(+) | G/A | SYNONYMOUS_VARIANT | |
718054 | Likely Benign: not provided | 36,681,510(+) | G/A | MISSENSE_VARIANT | |
721884 | Benign: not provided | 36,611,946(+) | T/C | INTRON_VARIANT | |
773340 | Benign: not provided | 36,693,351(+) | C/T | MISSENSE_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
hypertrophic cardiomyopathy |
|
|
hemochromatosis, type 2b |
|
|
dilated cardiomyopathy |
|
|
distal muscular dystrophy with anterior tibial onset |
|
|