FHOD3 (formin homology 2 domain containing 3)

Gene

• Entrez ID: 80206
• Gene name: Formin homology 2 domain containing 3
• Gene symbol: FHOD3
• Synonyms (NCBI Gene): CMH28, FHOS2, Formactin2
• Disease Acronyms (UniProt): CMH28
• 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

miRNA

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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	21149568
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005856	Component	Cytoskeleton	IBA	21873635
GO:0005865	Component	Striated muscle thin filament	IBA	21873635
GO:0030018	Component	Z disc	IEA
GO:0030837	Process	Negative regulation of actin filament polymerization	IEA
GO:0030866	Process	Cortical actin cytoskeleton organization	IBA	21873635
GO:0045214	Process	Sarcomere organization	IBA	21873635
GO:0051015	Function	Actin filament binding	IBA	21873635
GO:0051639	Process	Actin filament network formation	IBA	21873635
GO:0055003	Process	Cardiac myofibril assembly	IBA	21873635

Other IDs

• MIM: 609691
• HGNC: 26178
• e!Ensembl: 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

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Hypertrophic cardiomyopathy	Hypertrophic Cardiomyopathy	rs63750743, rs104894655, rs121908987, rs587776643, rs28938173, rs121908989, rs121908991, rs267606977, rs267606978, rs193922384, rs121909374, rs886041030, rs886041031, rs121909375, rs121909377, rs2856655, rs587776700, rs387906397, rs104894204, rs121434470, rs104894828, rs121964855, rs121964856, rs121964858, rs74315380, rs104894724, rs104894725, rs104894727, rs104894728, rs104894729, rs104894730, rs267607127, rs2147283135, rs267607128, rs267607125, rs104894502, rs104894503, rs104894504, rs28933405, rs111033560, rs121434594, rs80338797, rs104893748, rs104894368, rs104894369, rs104894370, rs121913624, rs3218713, rs121913625, rs121913626, rs121913627, rs121913628, rs121913629, rs121913630, rs121913631, rs121913632, rs121913633, rs121913634, rs3218714, rs121913636, rs121913637, rs121913638, rs121913639, rs121913641, rs121913642, rs121913643, rs121913647, rs121913650, rs121913651, rs36211715, rs121913654, rs267606911, rs267606908, rs730880850, rs121912675, rs267606629, rs193922680, rs1600482909, rs387906898, rs199476398, rs387907079, rs199474815, rs199474703, rs199476305, rs199476306, rs199476315, rs199476316, rs199476317, rs199476321, rs199476311, rs193922649, rs36211723, rs187830361, rs193922383, rs193922386, rs193922390, rs193922697, rs387907267, rs397507520, rs727505017, rs397515888, rs397515889, rs397515891, rs397515893, rs397515894, rs397515895, rs397515896, rs397515897, rs397515903, rs397515905, rs375882485, rs397515907, rs397515910, rs397515912, rs397515916, rs397515920, rs397515925, rs397515926, rs397515931, rs397515933, rs397515934, rs397515935, rs397515937, rs397515942, rs397515943, rs397515944, rs397515947, rs397515948, rs397515952, rs397515954, rs112738974, rs111729952, rs397515960, rs397515963, rs397515965, rs397515966, rs397515970, rs397515972, rs397515973, rs397515974, rs397515975, rs397515977, rs376395543, rs397515979, rs397515982, rs397515987, rs397515990, rs397515991, rs397515992, rs397515995, rs397515997, rs397516001, rs397516005, rs113358486, rs397516006, rs397516007, rs397516008, rs397516010, rs397516013, rs397516014, rs373746463, rs397516019, rs397516020, rs397516022, rs397516023, rs397516029, rs397516031, rs397516032, rs397516035, rs397516037, rs397516038, rs397516040, rs397516042, rs397516044, rs397516047, rs397516049, rs397516052, rs397516056, rs397516057, rs397516058, rs397516059, rs397516061, rs397516067, rs397516068, rs397516070, rs397516072, rs397516073, rs397516074, rs397516076, rs397516077, rs397516080, rs201078659, rs397516082, rs397516083, rs1555122751, rs397516088, rs397516089, rs397516095, rs397516098, rs397516101, rs397516103, rs397516110, rs397516127, rs371898076, rs397516132, rs397516134, rs397516142, rs3218716, rs397516153, rs397516154, rs397516155, rs397516156, rs397516157, rs397516160, rs397516161, rs397516165, rs397516166, rs397516170, rs397516171, rs397516172, rs397516178, rs397516179, rs397516187, rs397516201, rs397516202, rs145213771, rs397516207, rs397516209, rs397516212, rs397516238, rs397516248, rs397516254, rs397516258, rs397516260, rs45516091, rs397516264, rs397516266, rs397516269, rs397516340, rs397516347, rs121917760, rs397516349, rs397516353, rs397516354, rs397516355, rs397516357, rs397516373, rs397516406, rs397516455, rs397516456, rs397516457, rs397516463, rs397516464, rs45525839, rs397516470, rs397516471, rs45578238, rs111377893, rs397516736, rs397516738, rs397516739, rs397516751, rs397516752, rs397516784, rs397517283, rs397514752, rs143697995, rs267607490, rs199472948, rs138193236, rs398123279, rs869320740, rs606231340, rs606231324, rs587779392, rs587779393, rs587782951, rs587782957, rs587782958, rs587782962, rs587782965, rs138049878, rs376897125, rs368765949, rs727504247, rs376923877, rs727504277, rs727504255, rs727504246, rs727504331, rs727503513, rs727504392, rs397516039, rs727504271, rs727504321, rs727504289, rs727504305, rs727503172, rs573821685, rs727503176, rs727503178, rs727504423, rs727503180, rs727504333, rs727503182, rs727504265, rs727503184, rs727503186, rs727503187, rs727504252, rs727504864, rs727504334, rs727503192, rs397515932, rs727504366, rs727504248, rs727504287, rs200411226, rs727503204, rs727504329, rs727504269, rs573916965, rs367947846, rs727503210, rs730880335, rs727503166, rs727504390, rs730880361, rs727504276, rs111683277, rs727503174, rs727503175, rs727504349, rs727504314, rs727504371, rs730880341, rs727504293, rs727503195, rs111437311, rs727503202, rs727503203, rs727504279, rs727505152, rs727503209, rs727503211, rs727503212, rs727503217, rs727503219, rs730880366, rs727503220, rs727504356, rs727504311, rs727503261, rs727503264, rs727504238, rs148808089, rs727503271, rs727504409, rs727503276, rs727504283, rs727503296, rs45544633, rs727503246, rs727503252, rs727503253, rs202141173, rs2754158, rs727504310, rs727503260, rs727504272, rs727504240, rs727503263, rs727504239, rs727504925, rs727504237, rs727504236, rs727505202, rs727504267, rs727503278, rs727504243, rs727504285, rs727503499, rs727503504, rs727504242, rs727504264, rs727504275, rs727503500, rs727503503, rs727503120, rs730880336, rs730880337, rs730880362, rs730880210, rs730880143, rs730880159, rs730881116, rs730881122, rs730880162, rs730880605, rs730880604, rs730880600, rs730880702, rs730880598, rs730880597, rs730880699, rs730880592, rs730880675, rs730880720, rs730880719, rs730880672, rs730880668, rs730880718, rs730880666, rs730880586, rs730880584, rs11570112, rs730880578, rs730880576, rs730880660, rs730880657, rs730880655, rs730880654, rs730880653, rs730880652, rs730880714, rs730880651, rs730880558, rs730880649, rs730880647, rs730880713, rs730880646, rs730880546, rs727503197, rs730880695, rs730880644, rs730880640, rs730880712, rs730880544, rs730880542, rs730880541, rs730880538, rs730880533, rs730880531, rs730880641, rs730880639, rs397515890, rs730880724, rs730880635, rs730880723, rs730880686, rs730880631, rs730880678, rs730880629, rs730880684, rs368121566, rs730880621, rs730880681, rs375607980, rs730880618, rs730880680, rs730880679, rs730880677, rs730880704, rs730880703, rs730880721, rs730880698, rs730880664, rs730880663, rs730880662, rs730880659, rs730880916, rs727504558, rs730880759, rs730880756, rs730880750, rs730880749, rs730880748, rs730880736, rs727504241, rs727504299, rs730880732, rs730880883, rs730880930, rs730880929, rs730880875, rs370310929, rs730880926, rs730880864, rs730880856, rs397516268, rs730880922, rs730880845, rs730880388, rs730881091, rs786204352, rs786204339, rs786204338, rs786204336, rs786204329, rs2069544, rs281865416, rs773317399, rs121913648, rs730880809, rs863224483, rs863224899, rs863224900, rs863225120, rs863225121, rs863225107, rs863225114, rs863225113, rs863225104, rs863225105, rs863225112, rs863225106, rs863225109, rs863225111, rs863225100, rs863225103, rs863225102, rs863225097, rs863225101, rs730880876, rs863225272, rs863225271, rs190228518, rs863225269, rs761507504, rs864622224, rs1057515421, rs869025470, rs869025469, rs869025461, rs869025468, rs869025460, rs869025467, rs869025466, rs869025465, rs869025464, rs869025463, rs869025459, rs869025462, rs727503512, rs876657706, rs876657705, rs876657703, rs876657702, rs727503213, rs876657884, rs878854428, rs878853831, rs878853842, rs1562999443, rs1563003848, rs1562991002, rs879255639, rs886037900, rs886037902, rs886037901, rs886038822, rs886039030, rs886039185, rs754664923, rs141019458, rs1057517766, rs1057517767, rs779650200, rs1057518030, rs1057517711, rs1057519503, rs1057520814, rs1060499673, rs1060501480, rs1060501484, rs1060501481, rs1060501478, rs1064792936, rs1060501475, rs1060501479, rs1064792935, rs1060501436, rs1060501448, rs1060501443, rs1060501452, rs1060505018, rs1060499604, rs781135153, rs1064796231, rs1064793202, rs977277400, rs1064793429, rs771929829, rs745811346, rs1114167419, rs1114167361, rs1555409659, rs1555123389, rs1131691514, rs1131692185, rs1131692058, rs1553279294, rs1555120920, rs1555121924, rs1555338319, rs1555120300, rs1555121488, rs373792537, rs1444727212, rs1555338462, rs1555120937, rs1555123629, rs794727046, rs1555123633, rs1555121172, rs1555123438, rs1555336467, rs1555338658, rs1213930919, rs1432810664, rs1555122188, rs764743402, rs974671846, rs1420159591, rs745688425, rs1555338080, rs200889953, rs1555120258, rs1298025872, rs767039057, rs1555120529, rs1555121247, rs774521272, rs1555122156, rs1555123473, rs1555123496, rs1555123597, rs1555337701, rs2856897, rs869312381, rs1555122928, rs1555123743, rs1554401581, rs1555120651, rs868819340, rs1555122053, rs730880742, rs758891557, rs1555337794, rs1555338378, rs1555338758, rs1245885836, rs1566530698, rs1566513862, rs1565629792, rs730880751, rs727504294, rs1563001548, rs1565622952, rs1565625473, rs1565626409, rs1565627536, rs1565628062, rs1565628486, rs1565631430, rs1391622163, rs1131691685, rs749007293, rs1566535491, rs1565624090, rs1565625777, rs1565631428, rs1568858210, rs1566537070, rs1565627566, rs1567864804, rs1563161306, rs1565622703, rs190765116, rs1595843598, rs1565625795, rs1565628078, rs774316050, rs1565631381, rs1565631424, rs1566531421, rs730880872, rs730880870, rs1566536418, rs1566536436, rs1565623216, rs1265248322, rs113276889, rs1562998062, rs1419032418, rs1565627615, rs1565624196, rs1595843640, rs1595846398, rs764950910, rs1600448065, rs1600462474, rs1417887060, rs1600477808, rs1600480573, rs1050997719, rs1420394583, rs1595840648, rs1595841063, rs1595843549, rs1595843758, rs1595845565, rs1595845888, rs1595846344, rs1595846475, rs1595849931, rs1595070747, rs1246272841, rs730880741, rs1173617248, rs1595085409, rs730880879, rs1299079662, rs1595848628, rs1595849603, rs1450218521, rs1571627587, rs1603037717, rs1603038411, rs1595850762, rs777702465, rs1595841736, rs1595842238, rs1595845204, rs1025692267, rs1595070689, rs1198682781, rs2095879705, rs201911056, rs727504425, rs141414377, rs1596303148, rs1595841206, rs1595844714, rs1595842632, rs1595843828, rs113709679, rs1595841552, rs1595849742, rs754529157, rs1709195189, rs1342121466, rs2095880935, rs2095883508, rs2095884984, rs2095889902, rs2095891411, rs2095898532, rs780625785, rs1892592854, rs1892948780, rs2095879167, rs1956121988, rs2095893477, rs2095894178, rs1801002279, rs1892956157	31742804, 23255317
Narcolepsy	Narcolepsy	rs104894574, rs387906655	19629137

Unknown
Disease term	Disease name	Evidence	References	Source
Cardiomyopathy	cardiomyopathy, familial hypertrophic, 28			GenCC
Dementia	Dementia			GWAS
Otosclerosis	Otosclerosis			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
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