Gene Gene information from NCBI Gene database. Download as csv Download as pdf
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
PF02181	FH2	883 → 1254	Formin Homology 2 Domain	Family
PF18382	Formin_GBD_N	5 → 103	Formin N-terminal GTPase-binding domain	Domain

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)

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)

Phenotype Name	Clinical Significance	Source	Reference	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. Show/Hide Unknown Diseases (38)
Adrenocortical carcinoma, hereditary	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	36543923	★★★★★ ★★☆☆☆ 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	37359372	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign; Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	36543923, 39046104	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DILATED CARDIOMYOPATHY	—	GWAS catalog	33495596	★★★★★ ★★☆☆☆ 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	15966898, 19706596, 23213483, 29158260, 29686099, 29907873, 30442288, 30898215, 31742804, 32335906, 33495596, 33495597, 33586461, 39966646	★★★★★ ★★★☆☆ 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	36653343	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	34162658	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatic adenocarcinoma	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIODONTITIS	—	GWAS catalog	24347629	★★★★★ ★★☆☆☆ 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	30019117	★★★★★ ★★☆☆☆ 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

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
PDLIM3	3	["Dilated cardiomyopathy","Cardiomyopathy","Hypertrophic cardiomyopathy"]	[]	4	["Disgenet (Cardiomyopathy)","Disgenet (Dilated cardiomyopathy)","Disgenet (Hypertrophic cardiomyopathy)","ClinGen (Hypertrophic cardiomyopathy)"]
CSRP3	3	["Dilated cardiomyopathy","Cardiomyopathy","Hypertrophic cardiomyopathy"]	[]	7	["Disgenet (Cardiomyopathy)","Disgenet (Dilated cardiomyopathy)","GWAS catalog (Dilated cardiomyopathy)","HPO (Cardiomyopathy)","Disgenet (Hypertrophic cardiomyopathy)","GWAS catalog (Hypertrophic cardiomyopathy)","ClinGen (Hypertrophic cardiomyopathy)"]
HSPB7	3	["Dilated cardiomyopathy","Cardiomyopathy","Hypertrophic cardiomyopathy"]	[]	3	["GWAS catalog (Cardiomyopathy)","GWAS catalog (Dilated cardiomyopathy)","GWAS catalog (Hypertrophic cardiomyopathy)"]
CALR3	3	["Dilated cardiomyopathy","Cardiomyopathy","Hypertrophic cardiomyopathy"]	[]	4	["Disgenet (Cardiomyopathy)","Disgenet (Dilated cardiomyopathy)","Disgenet (Hypertrophic cardiomyopathy)","ClinGen (Hypertrophic cardiomyopathy)"]
MYLK2	3	["Dilated cardiomyopathy","Cardiomyopathy","Hypertrophic cardiomyopathy"]	[]	6	["Disgenet (Cardiomyopathy)","Disgenet (Dilated cardiomyopathy)","HPO (Cardiomyopathy)","Disgenet (Hypertrophic cardiomyopathy)","GWAS catalog (Hypertrophic cardiomyopathy)","ClinGen (Hypertrophic cardiomyopathy)"]

FHOD3 (formin homology 2 domain containing 3)

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