• Gene id: 80206

Gene Summary

• Gene Symbol: FHOD3   Gene   UCSC   Ensembl
• Aliases: FHOS2, Formactin2
• Gene name: formin homology 2 domain containing 3
• Alternate names: FH1/FH2 domain-containing protein 3, formactin-2, formin homolog overexpressed in spleen 2,
• Gene location: 18q12.2 (36297712: 36780219)     Exons: 33     NC_000018.10
• Gene summary(Entrez): 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
• OMIM: 607298

Protein Summary

• Protein general information: Q2V2M9  
  • Name: FH1/FH2 domain containing protein 3 (Formactin 2) (Formin homolog overexpressed in spleen 2) (hFHOS2)
  • Length: 1422  
  • Mass: 158613
  • 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:

  MATLACRVQFLDDTDPFNSTNFPEPSRPPLFTFREDLALGTQLAGVHRLLQAPHKLDDCTLQLSHNGAYLDLEAT
  LAEQRDELEGFQDDAGRGKKHSIILRTQLSVRVHACIEKLYNSSGRDLRRALFSLKQIFQDDKDLVHEFVVAEGL
  TCLIKVGAEADQNYQNYILRALGQIMLYVDGMNGVINRNETIQWLYTLIGSKFRLVVKTALKLLLVFVEYSESNA
  PLLIQAVTAVDTKRGVKPWSNIMEILEEKDGVDTELLVYAMTLVNKTLSGLPDQDTFYDVVDCLEELGIAAVSQR
  HLNKKGTDLDLVEQLNIYEVALRHEDGDETTEPPPSGCRDRRRASVCSSGGGEHRGLDRRRSRRHSVQSIKSTLS
  APTSPCSQSAPSFKPNQVRDLREKYSNFGNNSYHSSRPSSGSSVPTTPTSSVSPPQEARLERSSPSGLLTSSFRQ
  HQESLAAERERRRQEREERLQRIEREERNKFRYKYLEQLAAEEHEKELRSRSVSRGRADLSLDLTSPAAPACLAP
  LSHSPSSSDSQEALTVSASSPGTPHHPQASAGDPEPESEAEPEAEAGAGQVADEAGQDIASAHEGAETEVEQALE
  QEPEERASLSEKERQNEGVNERDNCSASSVSSSSSTLEREEKEDKLSRDRTTGLWPAGVQDAGVNGQCGDILTNK
  RFMLDMLYAHNRKSPDDEEKGDGEAGRTQQEAEAVASLATRISTLQANSQTQDESVRRVDVGCLDNRGSVKAFAE
  KFNSGDLGRGSISPDAEPNDKVPETAPVQPKTESDYIWDQLMANPRELRIQDMDFTDLGEEDDIDVLDVDLGHRE
  APGPPPPPPPTFLGLPPPPPPPLLDSIPPPPVPGNLLVPPPPVFNAPQGLGWSQVPRGQPTFTKKKKTIRLFWNE
  VRPFDWPCKNNRRCREFLWSKLEPIKVDTSRLEHLFESKSKELSVSKKTAADGKRQEIIVLDSKRSNAINIGLTV
  LPPPRTIKIAILNFDEYALNKEGIEKILTMIPTDEEKQKIQEAQLANPEIPLGSAEQFLLTLSSISELSARLHLW
  AFKMDYETTEKEVAEPLLDLKEGIDQLENNKTLGFILSTLLAIGNFLNGTNAKAFELSYLEKVPEVKDTVHKQSL
  LHHVCTMVVENFPDSSDLYSEIGAITRSAKVDFDQLQDNLCQMERRCKASWDHLKAIAKHEMKPVLKQRMSEFLK
  DCAERIIILKIVHRRIINRFHSFLLFMGHPPYAIREVNINKFCRIISEFALEYRTTRERVLQQKQKRANHRERNK
  TRGKMITDSGKFSGSSPAPPSQPQGLSYAEDAAEHENMKAVLKTSSPSVEDATPALGVRTRSRASRGSTSSWTMG
  TDDSPNVTDDAADEIMDRIVKSATQVPSQRVVPRERKRSRANRKSLRRTLKSGLTPEEARALGLVGTSELQL

• Structural information:
  • Protein Domains: (18..41-)
    (/note="GBD/FH3-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00579-)
    (827..85-)
    (/note="FH1-)
    (883..127-)
    (/note="FH2-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00774-)
    (1359..139-)
    (/note="DAD-)
    (/evidence="ECO:0000255-)
  • Interpro: IPR011989  IPR016024  IPR014767  IPR015425  IPR042201   IPR041387  IPR027651  IPR014768  
  • Prosite: PS51231 PS51444 PS51232
  • STRING: ENSP00000466937
• Other Databases: GeneCards:  FHOD3  Malacards:  FHOD3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005737	cytoplasm	IBA	cellular component
GO:0005856	cytoskeleton	IBA	cellular component
GO:0045214	sarcomere organization	IBA	biological process
GO:0051639	actin filament network formation	IBA	biological process
GO:0005865	striated muscle thin filament	IBA	cellular component
GO:0030866	cortical actin cytoskeleton organization	IBA	biological process
GO:0051015	actin filament binding	IBA	molecular function
GO:0055003	cardiac myofibril assembly	IBA	biological process
GO:0007015	actin filament organization	IEA	biological process
GO:0003779	actin binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0055003	cardiac myofibril assembly	IEA	biological process
GO:0030837	negative regulation of actin filament polymerization	IEA	biological process
GO:0005865	striated muscle thin filament	IEA	cellular component
GO:0045214	sarcomere organization	IEA	biological process
GO:0045214	sarcomere organization	IEA	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:0030018	Z disc	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R