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Ask your administrator if you think this is wrong. ======= FHOD3 ======= == Gene Information == * **<color #00a2e8>Official Symbol</color>**: FHOD3 * **<color #00a2e8>Official Name</color>**: formin homology 2 domain containing 3 * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=80206|80206]] * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q2V2M9|Q2V2M9]] * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=FHOD3&organism=9606|BioGRID]] * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20FHOD3|Open PubMed]] * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/609691|Open OMIM]] == Function Summary == * **<color #00a2e8>Entrez Summary</color>**: 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]. * **<color #00a2e8>UniProt Summary</color>**: N/A <button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button> <button type='primary' size='sm' modal='GO_terms'>GO Terms</button> <modal id='Pfam_Domains' size='lg' title='Pfam Domains'> |FH2| </modal> <modal id='GO_terms' size='lg' title='GO Terms'> |striated muscle thin filament| |cardiac myofibril assembly| |sarcomere organization| |negative regulation of actin filament polymerization| |cardiac muscle cell development| |cardiac cell development| |myofibril assembly| |negative regulation of protein polymerization| |cardiac muscle cell differentiation| |cellular component assembly involved in morphogenesis| |actomyosin structure organization| |cardiocyte differentiation| |negative regulation of protein complex assembly| |negative regulation of supramolecular fiber organization| |Z disc| |striated muscle cell development| |negative regulation of cytoskeleton organization| |muscle cell development| |cardiac muscle tissue development| |regulation of actin filament polymerization| |regulation of actin polymerization or depolymerization| |regulation of actin filament length| |striated muscle cell differentiation| |regulation of protein polymerization| |actin filament organization| |muscle cell differentiation| |regulation of actin filament organization| |actin binding| |striated muscle tissue development| |muscle tissue development| |regulation of actin cytoskeleton organization| |regulation of supramolecular fiber organization| |negative regulation of organelle organization| |regulation of cellular component size| |regulation of actin filament-based process| |regulation of protein complex assembly| |supramolecular fiber organization| |muscle structure development| |actin cytoskeleton organization| |regulation of anatomical structure size| |heart development| |regulation of cytoskeleton organization| |actin filament-based process| |negative regulation of cellular component organization| |organelle assembly| |cellular component morphogenesis| |circulatory system development| |anatomical structure formation involved in morphogenesis| |regulation of cellular component biogenesis| |cytoskeleton organization| |regulation of organelle organization| |cell development| |tissue development| </modal> \\ === CRISPR Data === <button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button> <button type='default' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button> <button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button> <modal id='Compound_Hit' size='lg' title='Compound Hit'> ^Screen^Score^ |[[:results:exp21|MLN-4924 0.2μM R00 exp21]]|-2.14| </modal> <modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'> No correlation found to any other genes in chemogenomics. </modal> <modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'> Global Fraction of Cell Lines Where Essential: 0/739 ^Tissue^Fraction Of Cell Lines Where Essential^ |1290807.0|0/1| |909776.0|0/1| |bile duct|0/28| |blood|0/28| |bone|0/26| |breast|0/33| |central nervous system|0/56| |cervix|0/4| |colorectal|0/17| |esophagus|0/13| |fibroblast|0/1| |gastric|0/16| |kidney|0/21| |liver|0/20| |lung|0/75| |lymphocyte|0/16| |ovary|0/26| |pancreas|0/24| |peripheral nervous system|0/16| |plasma cell|0/15| |prostate|0/1| |skin|0/24| |soft tissue|0/9| |thyroid|0/2| |upper aerodigestive|0/22| |urinary tract|0/29| |uterus|0/5| </modal> == Essentiality in NALM6 == * **<color #00a2e8>Essentiality Rank</color>**: 6135 * **<color #00a2e8>Expression level (log2 read counts)</color>**: 3.4 <button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button> <modal id='Dist_expr' size='lg' title='FHOD3 Expression in NALM6 Cells: 3.4'> {{:chemogenomics:nalm6 dist.png?nolink |}} </modal> Last modified: 2025/12/10 20:19by 127.0.0.1