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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	80206
Gene name	Formin homology 2 domain containing 3
Gene symbol	FHOD3
Synonyms (NCBI Gene)	CMH28FHOS2Formactin2
Chromosome	18
Chromosome location	18q12.2
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 (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

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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cardiomyopathy, familial hypertrophic, 28	Likely pathogenic; Pathogenic	rs2036159242, rs1205890585, rs2523301617	RCV001527692 RCV001527693 RCV003989415	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (38)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, HYPERTROPHIC, FAMILIAL	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiovascular phenotype	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DILATED CARDIOMYOPATHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FHOD3-related disorder	Benign; Uncertain significance; Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophic cardiomyopathy	Uncertain significance; Likely benign	ClinVar ClinGen, Disgenet, GWAS catalog ClinGen, Disgenet, GWAS catalog ClinGen, Disgenet, GWAS catalog	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hypertrophic cardiomyopathy 7	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OTOSCLEROSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatic adenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIODONTITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary dilated cardiomyopathy	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of the head and neck	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

FHOD3 (formin homology 2 domain containing 3)