FHOD3 - formin homology 2 domain containing 3 Gene

Homo sapiens

Also known as CMH28; FHOS2; Formactin2

Gene ID: 80206 | Gene type: protein coding

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	Reference	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

0
300
600
900
1200
1422 a.a.

Protein Preferred Names

Protein Names

FH1/FH2 domain-containing protein 3

formactin-2

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04939	FHOD3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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