• Gene id: 114793

Gene Summary

• Gene Symbol: FMNL2   Gene   UCSC   Ensembl
• Aliases: FHOD2
• Gene name: formin like 2
• Alternate names: formin-like protein 2, formin homology 2 domain containing 2, formin homology 2 domain-containing protein 2,
• Gene location: 2q23.3 (152335169: 152649825)     Exons: 30     NC_000002.12
• Gene summary(Entrez): This gene encodes a formin-related protein. Formin-related proteins have been implicated in morphogenesis, cytokinesis, and cell polarity. Alternatively spliced transcript variants encoding different isoforms have been described but their full-length natu
• OMIM: 616285

Protein Summary

• Protein general information: Q96PY5  
  • Name: Formin like protein 2 (Formin homology 2 domain containing protein 2)
  • Length: 1086  
  • Mass: 123321
• Sequence:

  MGNAGSMDSQQTDFRAHNVPLKLPMPEPGELEERFAIVLNAMNLPPDKARLLRQYDNEKKWELICDQERFQVKNP
  PHTYIQKLKGYLDPAVTRKKFRRRVQESTQVLRELEISLRTNHIGWVREFLNEENKGLDVLVEYLSFAQYAVTFD
  FESVESTVESSVDKSKPWSRSIEDLHRGSNLPSPVGNSVSRSGRHSALRYNTLPSRRTLKNSRLVSKKDDVHVCI
  MCLRAIMNYQYGFNMVMSHPHAVNEIALSLNNKNPRTKALVLELLAAVCLVRGGHEIILSAFDNFKEVCGEKQRF
  EKLMEHFRNEDNNIDFMVASMQFINIVVHSVEDMNFRVHLQYEFTKLGLDEYLDKLKHTESDKLQVQIQAYLDNV
  FDVGALLEDAETKNAALERVEELEENISHLSEKLQDTENEAMSKIVELEKQLMQRNKELDVVREIYKDANTQVHT
  LRKMVKEKEEAIQRQSTLEKKIHELEKQGTIKIQKKGDGDIAILPVVASGTLSMGSEVVAGNSVGPTMGAASSGP
  LPPPPPPLPPSSDTPETVQNGPVTPPMPPPPPPPPPPPPPPPPPPPPPLPGPAAETVPAPPLAPPLPSAPPLPGT
  SSPTVVFNSGLAAVKIKKPIKTKFRMPVFNWVALKPNQINGTVFNEIDDERILEDLNVDEFEEIFKTKAQGPAID
  LSSSKQKIPQKGSNKVTLLEANRAKNLAITLRKAGKTADEICKAIHVFDLKTLPVDFVECLMRFLPTENEVKVLR
  LYERERKPLENLSDEDRFMMQFSKIERLMQKMTIMAFIGNFAESIQMLTPQLHAIIAASVSIKSSQKLKKILEII
  LALGNYMNSSKRGAVYGFKLQSLDLLLDTKSTDRKQTLLHYISNVVKEKYHQVSLFYNELHYVEKAAAVSLENVL
  LDVKELQRGMDLTKREYTMHDHNTLLKEFILNNEGKLKKLQDDAKIAQDAFDDVVKYFGENPKTTPPSVFFPVFV
  RFVKAYKQAEEENELRKKQEQALMEKLLEQEALMEQQDPKSPSHKSKRQQQELIAELRRRQVKDNRHVYEGKDGA
  IEDIITVLKTVPFTARTAKRGSRFFCEPVLTEEYHY

• Structural information:
  • Protein Domains: (23..46-)
    (/note="GBD/FH3-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00579-)
    (616..100-)
    (/note="FH2-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00774-)
    (1040..107-)
    (/note="DAD-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00577"-)
  • Interpro: IPR016024  IPR014767  IPR015425  IPR042201  IPR010472   IPR027656  IPR014768  IPR010473  
  • Prosite: PS51231 PS51444 PS51232
  • PDB: 4YC7
  • PDBsum: 4YC7
  • STRING: ENSP00000288670
• Other Databases: GeneCards:  FMNL2  Malacards:  FMNL2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005829	cytosol	IBA	cellular component
GO:0008360	regulation of cell shape	IBA	biological process
GO:0016477	cell migration	IBA	biological process
GO:0030866	cortical actin cytoskeleton organization	IBA	biological process
GO:0051015	actin filament binding	IBA	molecular function
GO:0030866	cortical actin cytoskeleton organization	IMP	biological process
GO:0007010	cytoskeleton organization	IMP	biological process
GO:0022604	regulation of cell morphogenesis	IMP	biological process
GO:0003779	actin binding	IEA	molecular function
GO:0007010	cytoskeleton organization	IEA	biological process
GO:0017048	Rho GTPase binding	IEA	molecular function
GO:0030036	actin cytoskeleton organization	IEA	biological process
GO:0016043	cellular component organization	IEA	biological process
GO:0022604	regulation of cell morphogenesis	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0045296	cadherin binding	HDA	molecular function
GO:0005737	cytoplasm	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray