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Gene : FHOD3 Homo sapiens

Name  ? formin homology 2 domain containing 3 Cytological Location  18q12.2
Brief Description  formin homology 2 domain containing 3
Description  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]
  • synonyms:
  • FHOS2,
  • uc002kzs.3,
  • HGNC:26178,
  • Formactin2,
  • NM_025135,
  • FHOS2,
  • FLJ22717,
  • FLJ22297,
  • OTTHUMG00000182381,
  • AK091899,
  • FHOD3,
  • KIAA1695
  • identifiers:
  • 80206,
  • ENSG00000134775,
  • FHOD3

Genome feature

Region: gene ? Length: 482508  
Location: 18:36297713-36780220 Cyto location: 18q12.2


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0 Pathways

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Proteins

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SNPs

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Disease

0 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

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Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

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Expression

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Other

0 Pathways

492 SN Ps

5 Cross References

17 Data Sets

5 Homologues

0 Located Features

97 Rna Seq Results