FHOD3

Entrez Summary: 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].
UniProt Summary: N/A

Pfam Domains GO Terms

Compound Hit Most Correlated Genes in Chemogenomics 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

Expression Distribution

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