Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	80206
Gene name Gene Name - the full gene name approved by the HGNC.	Formin homology 2 domain containing 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	FHOD3
Synonyms (NCBI Gene) Gene synonyms aliases	CMH28, FHOS2, Formactin2
Chromosome Chromosome number	18
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	18q12.2
Summary Summary of gene provided in NCBI Entrez Gene.	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 (diap

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miRTarBase ID	miRNA	Experiments	Reference
MIRT035872	hsa-miR-1303	CLASH	23622248
MIRT996604	hsa-miR-127-5p	CLIP-seq
MIRT996605	hsa-miR-1909	CLIP-seq
MIRT996606	hsa-miR-299-5p	CLIP-seq
MIRT996607	hsa-miR-3170	CLIP-seq
MIRT996608	hsa-miR-3611	CLIP-seq
MIRT996609	hsa-miR-3944-5p	CLIP-seq
MIRT996610	hsa-miR-4260	CLIP-seq
MIRT996611	hsa-miR-4264	CLIP-seq
MIRT996612	hsa-miR-4434	CLIP-seq
MIRT996613	hsa-miR-4516	CLIP-seq
MIRT996614	hsa-miR-4531	CLIP-seq
MIRT996615	hsa-miR-4534	CLIP-seq
MIRT996616	hsa-miR-455-5p	CLIP-seq
MIRT996617	hsa-miR-4677-3p	CLIP-seq
MIRT996618	hsa-miR-4679	CLIP-seq
MIRT996619	hsa-miR-622	CLIP-seq
MIRT996620	hsa-miR-629	CLIP-seq
MIRT1995502	hsa-miR-342-5p	CLIP-seq
MIRT1995503	hsa-miR-4646-5p	CLIP-seq
MIRT1995504	hsa-miR-4651	CLIP-seq
MIRT1995505	hsa-miR-4664-5p	CLIP-seq
MIRT1995506	hsa-miR-608	CLIP-seq
MIRT996604	hsa-miR-127-5p	CLIP-seq
MIRT996608	hsa-miR-3611	CLIP-seq
MIRT996611	hsa-miR-4264	CLIP-seq
MIRT996617	hsa-miR-4677-3p	CLIP-seq
MIRT996618	hsa-miR-4679	CLIP-seq
MIRT996619	hsa-miR-622	CLIP-seq
MIRT996605	hsa-miR-1909	CLIP-seq
MIRT2387997	hsa-miR-3690	CLIP-seq
MIRT996609	hsa-miR-3944-5p	CLIP-seq
MIRT2387998	hsa-miR-4254	CLIP-seq
MIRT996612	hsa-miR-4434	CLIP-seq
MIRT2387999	hsa-miR-4462	CLIP-seq
MIRT996613	hsa-miR-4516	CLIP-seq
MIRT996614	hsa-miR-4531	CLIP-seq
MIRT996615	hsa-miR-4534	CLIP-seq
MIRT996616	hsa-miR-455-5p	CLIP-seq
MIRT2388000	hsa-miR-4652-5p	CLIP-seq
MIRT996605	hsa-miR-1909	CLIP-seq
MIRT996609	hsa-miR-3944-5p	CLIP-seq
MIRT996612	hsa-miR-4434	CLIP-seq
MIRT2387999	hsa-miR-4462	CLIP-seq
MIRT996613	hsa-miR-4516	CLIP-seq
MIRT996614	hsa-miR-4531	CLIP-seq
MIRT996615	hsa-miR-4534	CLIP-seq
MIRT996616	hsa-miR-455-5p	CLIP-seq
MIRT2388000	hsa-miR-4652-5p	CLIP-seq
MIRT2533444	hsa-miR-1270	CLIP-seq
MIRT996605	hsa-miR-1909	CLIP-seq
MIRT1995502	hsa-miR-342-5p	CLIP-seq
MIRT2387997	hsa-miR-3690	CLIP-seq
MIRT2533445	hsa-miR-3691-3p	CLIP-seq
MIRT996609	hsa-miR-3944-5p	CLIP-seq
MIRT2387998	hsa-miR-4254	CLIP-seq
MIRT996612	hsa-miR-4434	CLIP-seq
MIRT2387999	hsa-miR-4462	CLIP-seq
MIRT996613	hsa-miR-4516	CLIP-seq
MIRT996614	hsa-miR-4531	CLIP-seq
MIRT996615	hsa-miR-4534	CLIP-seq
MIRT996616	hsa-miR-455-5p	CLIP-seq
MIRT1995503	hsa-miR-4646-5p	CLIP-seq
MIRT1995504	hsa-miR-4651	CLIP-seq
MIRT2388000	hsa-miR-4652-5p	CLIP-seq
MIRT1995505	hsa-miR-4664-5p	CLIP-seq
MIRT2533446	hsa-miR-4683	CLIP-seq
MIRT2533447	hsa-miR-4690-5p	CLIP-seq
MIRT2533448	hsa-miR-4731-3p	CLIP-seq
MIRT2533449	hsa-miR-4742-5p	CLIP-seq
MIRT2533450	hsa-miR-4801	CLIP-seq
MIRT1995506	hsa-miR-608	CLIP-seq
MIRT2533451	hsa-miR-620	CLIP-seq
MIRT2533444	hsa-miR-1270	CLIP-seq
MIRT996605	hsa-miR-1909	CLIP-seq
MIRT1995502	hsa-miR-342-5p	CLIP-seq
MIRT2387997	hsa-miR-3690	CLIP-seq
MIRT2533445	hsa-miR-3691-3p	CLIP-seq
MIRT996609	hsa-miR-3944-5p	CLIP-seq
MIRT2387998	hsa-miR-4254	CLIP-seq
MIRT996612	hsa-miR-4434	CLIP-seq
MIRT2387999	hsa-miR-4462	CLIP-seq
MIRT996613	hsa-miR-4516	CLIP-seq
MIRT996614	hsa-miR-4531	CLIP-seq
MIRT996615	hsa-miR-4534	CLIP-seq
MIRT996616	hsa-miR-455-5p	CLIP-seq
MIRT1995503	hsa-miR-4646-5p	CLIP-seq
MIRT1995504	hsa-miR-4651	CLIP-seq
MIRT2388000	hsa-miR-4652-5p	CLIP-seq
MIRT1995505	hsa-miR-4664-5p	CLIP-seq
MIRT2533446	hsa-miR-4683	CLIP-seq
MIRT2533447	hsa-miR-4690-5p	CLIP-seq
MIRT2533448	hsa-miR-4731-3p	CLIP-seq
MIRT2533449	hsa-miR-4742-5p	CLIP-seq
MIRT2533450	hsa-miR-4801	CLIP-seq
MIRT1995506	hsa-miR-608	CLIP-seq
MIRT2533451	hsa-miR-620	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0003779	Function	Actin binding	IEA
GO:0005515	Function	Protein binding	IPI	21149568
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IBA
GO:0005856	Component	Cytoskeleton	IEA
GO:0007015	Process	Actin filament organization	IBA
GO:0030018	Component	Z disc	IEA
GO:0045214	Process	Sarcomere organization	IBA
GO:0051015	Function	Actin filament binding	IBA
GO:0051496	Process	Positive regulation of stress fiber assembly	IBA
GO:0055003	Process	Cardiac myofibril assembly	IBA

MIM	HGNC	e!Ensembl
609691	26178	ENSG00000134775

Protein

UniProt ID

Q2V2M9

Protein name

FH1/FH2 domain-containing protein 3 (Formactin-2) (Formin homolog overexpressed in spleen 2) (hFHOS2)

Protein function

Actin-organizing protein that may cause stress fiber formation together with cell elongation (By similarity). Isoform 4 may play a role in actin filament polymerization in cardiomyocytes.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF18382	Formin_GBD_N	5 → 103	Formin N-terminal GTPase-binding domain	Domain
PF02181	FH2	883 → 1254	Formin Homology 2 Domain	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in the heart, kidney and brain. May be down-regulated in various types of heart diseases, including idiopathic dilated, ventricular dilated, familial dilated and perinatal dilated cardiomyopathies, as well as ischemic heart d

Sequence

MATLACRVQFLDDTDPFNSTNFPEPSRPPLFTFREDLALGTQLAGVHRLLQAPHKLDDCT
LQLSHNGAYLDLEATLAEQRDELEGFQDDAGRGKKHSIILRTQLSVRVHACIEKLYNSSG
RDLRRALFSLKQIFQDDKDLVHEFVVAEGLTCLIKVGAEADQNYQNYILRALGQIMLYVD
GMNGVINRNETIQWLYTLIGSKFRLVVKTALKLLLVFVEYSESNAPLLIQAVTAVDTKRG
VKPWSNIMEILEEKDGVDTELLVYAMTLVNKTLSGLPDQDTFYDVVDCLEELGIAAVSQR
HLNKKGTDLDLVEQLNIYEVALRHEDGDETTEPPPSGCRDRRRASVCSSGGGEHRGLDRR
RSRRHSVQSIKSTLSAPTSPCSQSAPSFKPNQVRDLREKYSNFGNNSYHSSRPSSGSSVP
TTPTSSVSPPQEARLERSSPSGLLTSSFRQHQESLAAERERRRQEREERLQRIEREERNK
FRYKYLEQLAAEEHEKELRSRSVSRGRADLSLDLTSPAAPACLAPLSHSPSSSDSQEALT
VSASSPGTPHHPQASAGDPEPESEAEPEAEAGAGQVADEAGQDIASAHEGAETEVEQALE
QEPEERASLSEKERQNEGVNERDNCSASSVSSSSSTLEREEKEDKLSRDRTTGLWPAGVQ
DAGVNGQCGDILTNKRFMLDMLYAHNRKSPDDEEKGDGEAGRTQQEAEAVASLATRISTL
QANSQTQDESVRRVDVGCLDNRGSVKAFAEKFNSGDLGRGSISPDAEPNDKVPETAPVQP
KTESDYIWDQLMANPRELRIQDMDFTDLGEEDDIDVLDVDLGHREAPGPPPPPPPTFLGL
PPPPPPPLLDSIPPPPVPGNLLVPPPPVFNAPQGLGWSQVPRGQPTFTKKKKTIRLFWNE
VRPFDWPCKNNRRCREFLWSKLEPIKVDTSRLEHLFESKSKELSVSKKTAADGKRQEIIV
LDSKRSNAINIGLTVLPPPRTIKIAILNFDEYALNKEGIEKILTMIPTDEEKQKIQEAQL
ANPEIPLGSAEQFLLTLSSISELSARLHLWAFKMDYETTEKEVAEPLLDLKEGIDQLENN
KTLGFILSTLLAIGNFLNGTNAKAFELSYLEKVPEVKDTVHKQSLLHHVCTMVVENFPDS
SDLYSEIGAITRSAKVDFDQLQDNLCQMERRCKASWDHLKAIAKHEMKPVLKQRMSEFLK
DCAERIIILKIVHRRIINRFHSFLLFMGHPPYAIREVNINKFCRIISEFALEYRTTRERV
LQQKQKRANHRERNKTRGKMITDSGKFSGSSPAPPSQPQGLSYAEDAAEHENMKAVLKTS
SPSVEDATPALGVRTRSRASRGSTSSWTMGTDDSPNVTDDAADEIMDRIVKSATQVPSQR
VVPRERKRSRANRKSLRRTLKSGLTPEEARALGLVGTSELQL

Sequence length

1422

Interactions

View interactions

Show/Hide Unknown Diseases (5)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Cardiomyopathy	cardiomyopathy, familial hypertrophic, 28	N/A	N/A	GenCC
Dementia	Dementia	N/A	N/A	GWAS
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy 7	N/A	N/A	ClinVar
Hypertrophic cardiomyopathy	hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy	N/A	N/A	ClinVar, GWAS
Otosclerosis	Otosclerosis	N/A	N/A	GWAS

Show/Hide Text Mining Associations (10)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Cardiomegaly	Associate	30442288
Cardiomyopathy Dilated	Associate	28296976
Cardiomyopathy Hypertrophic	Associate	23255317, 30442288, 33586461, 38051749, 39971408
Cardiovascular Diseases	Associate	33586461
Chronic Periodontitis	Associate	24347629
Death	Associate	33586461
familial dilated cardiomyopathy	Associate	28296976
Fibrosis	Associate	35205353
Heart Failure	Associate	35205353
Noncompaction of Left Ventricular Myocardium Familial Isolated Autosomal Dominant 1	Associate	35205353

FHOD3 (formin homology 2 domain containing 3)