FHOD3 - formin homology 2 domain containing 3 Gene

Also Known as CMH28; FHOS2; Formactin2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 80206

About FHOD3

Cytogenetic location: 18q12.2 Genomic coordinates (GRCh38): 18:36,297,713-36,780,220 (from NCBI)

This gene has 9 transcripts (splice variants), 338 orthologues, 18 paralogues and is associated with 1 phenotype. Biased expression in heart (RPKM 23.5), prostate (RPKM 6.1) and 10 other tissues.

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]

FHOD3 Products (3)

mRNA Protein Name
NM_001281739.3 NP_001268668.1 FH1/FH2 domain-containing protein 3 isoform 2
NM_001281740.3 NP_001268669.1 FH1/FH2 domain-containing protein 3 isoform 3
NM_025135.5 NP_079411.2 FH1/FH2 domain-containing protein 3 isoform 1

Gene Ontology

  • Molecular Function
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
21149568 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

FHOD3 Protein Structure

FH2

FH2: Formin Homology 2 Domain (886 - 1253)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1422 a.a.
Protein Preferred Names Protein Names

FH1/FH2 domain-containing protein 3

  • formactin-2

FHOD3 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
FHOD3 Q2V2M9 SQSTM1 Homo sapiens Q13501
Y2H
21149568
Intra
FHOD3 Q2V2M9 SQSTM1 Homo sapiens Q13501
Confocal
21149568
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Cardiomyopathy, Familial Hypertrophic, 28

  • CMH28

  • Cardiomyopathy, Familial Hypertrophic 28
Hypertrophic Cardiomyopathy

  • Hypertrophic Obstructive Cardiomyopathy

  • Cardiomyopathy, Hypertrophic

  • Cardiomyopathy Hypertrophic Obstructive

  • Cardiomyopathy, Hypertrophic, Familial

  • Idiopathic Myocardial Hypertrophy

  • Idiopathic Hypertrophic Cardiomyopathy

  • Obstructive Idiopathic Hypertrophic Cardiomyopathy

  • Obstructive Cardiomyopathy

  • Idiopathic Hypertrophic Subaortic Stenosis

  • Muscular Subaortic Stenosis

  • Hypertrophic Obstructive Subaortic Stenosis
Hemochromatosis, Type 2b

  • Hemochromatosis Type 2b

  • HFE2B

  • Hemochromatosis 2b
Dilated Cardiomyopathy

  • Familial Dilated Cardiomyopathy

  • Primary Dilated Cardiomyopathy

  • Idiopathic Dilated Cardiomyopathy

  • Congestive Cardiomyopathy

  • Idiopathic Dilation Cardiomyopathy

  • Primary Familial Dilated Cardiomyopathy

  • Cardiomyopathy, Dilated

  • DCM

  • Cardiomyopathy, Familial Dilated

  • Dilated Cardiomyopathy, Familial

  • Hypokinetic Dilated Cardiomyopathy, Familial

  • Familial Idiopathic Cardiomyopathy

  • Fdc

  • Cardiomyopathy, Familial Idiopathic

  • Idiopathic Cardiomegaly

  • Dilated Congestive Cardiomyopathy

  • Chronic Dilated Cardiomyopathy

  • Ccm - [Congestive Cardiomyopathy]

  • Cocm - [Congestive Cardiomyopathy]

  • Dcm - [Dilated Cardiomyopathy]

  • Dilated-Hypokinetic Cardiomyopathy

  • Congestive Idiopathic Cardiomyopathy

  • Primary Idiopathic Dilated Cardiomyopathy
Developmental And Epileptic Encephalopathy 4

  • DEE4

  • Epileptic Encephalopathy, Early Infantile, 4

  • Eiee4

  • Early Infantile Epileptic Encephalopathy 4

  • Stxbp1-Related Early-Onset Encephalopathy

  • Early Myoclonic Encephalopathy

  • Developmental And Epileptic Encephalopathy, 4

  • Stxbp1 Disorders

  • Stxbp1 Encephalopathy

  • Developmental And Epileptic Encephalopathy, Type 4

  • Early-Infantile Epileptic Encephalopathy 4

  • Stxbp1 Encephalopathy With Epilepsy

  • Stxbp1 Epileptic Encephalopathy

  • Stxbp1-Related Developmental And Epileptic Encephalopathy

  • Stxbp1-Related Epileptic Encephalopathy

  • Eme

  • Neonatal Epilepsy With Suppression-Burst Pattern

  • Encephalopathy, Epileptic, Early Infantile, Type 4
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS04939 FHOD3 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS05004 FMNL3 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS22507 Fhod3 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS29028 Fhod3 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Canis familiaris FHOD3 VGNC VGNC:40876
Bos taurus FHOD3 VGNC VGNC:29004
Felis catus FHOD3 VGNC VGNC:62268
Macaca mulatta FHOD3 VGNC VGNC:72581
Mus musculus FHOD3 MGD MGI:1925847
Rattus norvegicus FHOD3 RGD RGD:2322319
Others FHOD3 NCBI