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

132

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cardiomyopathy, familial hypertrophic, 28	Likely pathogenic; Pathogenic	rs2036159242, rs1205890585, rs2523301617	RCV001527692 RCV001527693 RCV003989415

Show/Hide Unknown Diseases (25)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Adrenocortical carcinoma, hereditary	Benign	rs60414347	RCV005917990
Cardiomyopathy	Uncertain significance	rs202238556	RCV002273181
Cardiovascular phenotype	Uncertain significance; Conflicting classifications of pathogenicity	rs755501978, rs368891038, rs144223411, rs141148037, rs150153026, rs146804885, rs201152499, rs943103824, rs765554637, rs750825580, rs760471234, rs547809819, rs560946106, rs146524905, rs748150318 View all (7 more)	RCV005405922 RCV005406021 RCV005406030 RCV005406039 RCV005406104 RCV005406105 RCV005406121 RCV005404000 RCV005404128 RCV005404131 RCV005404132 RCV005404911 RCV005404913 RCV005404914 RCV005404917 RCV005404922 RCV005405083 RCV005405086 RCV005405133 RCV005405135 RCV005405136 RCV005628684
Cervical cancer	Benign; Likely benign	rs61735998, rs73948089, rs149677982	RCV005929894 RCV005931669 RCV005910693
Cholangiocarcinoma	Benign; Likely benign	rs60414347, rs61735998	RCV005917992 RCV005929901
Clear cell carcinoma of kidney	Benign	rs149677982	RCV005910694
Colon adenocarcinoma	Benign; Likely benign	rs61735998, rs149677982	RCV005929890 RCV005910692
Colorectal cancer	Benign; Likely benign	rs61735998	RCV005929895
FHOD3-related disorder	Benign; Uncertain significance; Conflicting classifications of pathogenicity; Likely benign	rs771717461, rs1021276233, rs747730516, rs2511835926, rs373880183, rs368891038, rs202146466, rs144223411, rs141148037, rs1310232237, rs200738813, rs1192111423, rs534901959, rs139884505, rs1568664408 View all (6 more)	RCV003968428 RCV003975915 RCV003420663 RCV003404358 RCV003414498 RCV003414141 RCV003392874 RCV004750897 RCV003954218 RCV003983405 RCV003894501 RCV003974125 RCV003914015 RCV003917078 RCV003951769 RCV003932114 RCV003927388 RCV003944334 RCV003962222 RCV004752249 RCV004752302 RCV003920750
Gastric cancer	Benign	rs149677982	RCV005910695
Hepatocellular carcinoma	Benign; Likely benign	rs61735998	RCV005929891
Hypertrophic cardiomyopathy	Uncertain significance; Likely benign	rs755501978, rs144428734, rs141148037, rs746712580, rs201824593, rs151313792, rs144993045, rs2036163874	RCV004765371 RCV003994515 RCV004765384 RCV003994769 RCV004765406 RCV004765341 RCV005250139 RCV001254761
Hypertrophic cardiomyopathy 7	Uncertain significance	rs144993045	RCV001095747
Lung cancer	Benign; Likely benign	rs61735998	RCV005929902
Lymphoma	Benign; Likely benign	rs61735998	RCV005929897
Malignant tumor of esophagus	Benign; Likely benign	rs114356095, rs61735998	RCV005915475 RCV005929892
Melanoma	Benign; Likely benign	rs61735998	RCV005929900
Nonpapillary renal cell carcinoma	Benign; Likely benign	rs61735998	RCV005929893
Pancreatic adenocarcinoma	Benign	rs2303510	RCV005915613
Primary dilated cardiomyopathy	Uncertain significance	rs2522012964, rs533572045	RCV002465030 RCV002465040
Sarcoma	Benign; Likely benign	rs61735998, rs73948089	RCV005929896 RCV005931670
Squamous cell carcinoma of the head and neck	Benign	rs60414347	RCV005917989
Thymoma	Benign; Likely benign	rs60414347, rs61735998	RCV005917991 RCV005929898
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	rs61735998	RCV005929899
Uterine corpus endometrial carcinoma	Benign; Likely benign	rs114356095, rs61735998	RCV005916453 RCV005929903

Show/Hide Text Mining Associations (10)

Disease Name	Relationship Type	References
Associations from Text MiningDisease 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)