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FHOD3 - formin homology 2 domain containing 3 Gene

Also Known as CMH28; FHOS2; Formactin2

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子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	参考文献	由来
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

FHOD3 Protein-protein interaction Information

Type	タンパク質名	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	参考文献
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

関連疾患

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)

製品番号	製品名	製品効果	純度	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

生物種	Symbol	由来	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