• Gene id: 91010

Gene Summary

• Gene Symbol: FMNL3   Gene   UCSC   Ensembl
• Aliases: FHOD3, FRL2, WBP-3, WBP3
• Gene name: formin like 3
• Alternate names: formin-like protein 3, WW domain binding protein 3, formin homology 2 domain-containing protein 3,
• Gene location: 12q13.12 (49707404: 49636498)     Exons: 31     NC_000012.12
• Gene summary(Entrez): The protein encoded by this gene contains a formin homology 2 domain and has high sequence identity to the mouse Wbp3 protein. Two alternative transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
• OMIM: 300124

Protein Summary

• Protein general information: Q8IVF7  
  • Name: Formin like protein 3 (Formin homology 2 domain containing protein 3) (WW domain binding protein 3) (WBP 3)
  • Length: 1028  
  • Mass: 117213
  • Tissue specificity: Expressed in endothelial cells. {ECO
• Sequence:

  MGNLESAEGVPGEPPSVPLLLPPGKMPMPEPCELEERFALVLSSMNLPPDKARLLRQYDNEKKWDLICDQERFQV
  KNPPHTYIQKLQSFLDPSVTRKKFRRRVQESTKVLRELEISLRTNHIGWVREFLNDENKGLDVLVDYLSFAQCSV
  MFDFEGLESGDDGAFDKLRSWSRSIEDLQPPSALSAPFTNSLARSARQSVLRYSTLPGRRALKNSRLVSQKDDVH
  VCILCLRAIMNYQYGFNLVMSHPHAVNEIALSLNNKNPRTKALVLELLAAVCLVRGGHEIILAAFDNFKEVCKEL
  HRFEKLMEYFRNEDSNIDFMVACMQFINIVVHSVEDMNFRVHLQYEFTKLGLEEFLQKSRHTESEKLQVQIQAYL
  DNVFDVGGLLEDAETKNVALEKVEELEEHVSHLTEKLLDLENENMMRVAELEKQLLQREKELESIKETYENTSHQ
  VHTLRRLIKEKEEAFQRRCHLEPNVRGLESVDSEALARVGPAELSEGMPPSDLDLLAPAPPPEEVLPLPPPPAPP
  LPPPPPPLPDKCPPAPPLPGAAPSVVLTVGLSAIRIKKPIKTKFRLPVFNWTALKPNQISGTVFSELDDEKILED
  LDLDKFEELFKTKAQGPALDLICSKNKTAQKAASKVTLLEANRAKNLAITLRKAGRSAEEICRAIHTFDLQTLPV
  DFVECLMRFLPTEAEVKLLRQYERERQPLEELAAEDRFMLLFSKVERLTQRMAGMAFLGNFQDNLQMLTPQLNAI
  IAASASVKSSQKLKQMLEIILALGNYMNSSKRGAVYGFKLQSLDLLLDTKSTDRKMTLLHFIALTVKEKYPDLAN
  FWHELHFVEKAAAVSLENVLLDVKELGRGMELIRRECSIHDNSVLRNFLSTNEGKLDKLQRDAKTAEEAYNAVVR
  YFGESPKTTPPSVFFPVFVRFIRSYKEAEQENEARKKQEEVMREKQLAQEAKKLDAKTPSQRNKWQQQELIAELR
  RRQAKEHRPVYEGKDGTIEDIITVLKSVPFTARTAKRGSRFFCDAAHHDESNC

• Structural information:
  • Protein Domains: (26..47-)
    (/note="GBD/FH3-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00579-)
    (561..95-)
    (/note="FH2-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00774-)
    (986..101-)
    (/note="DAD"-)
  • Interpro: IPR016024  IPR015425  IPR042201  IPR010472  IPR027655   IPR014768  IPR010473  
  • Prosite: PS51444 PS51232
  • STRING: ENSP00000335655
• Other Databases: GeneCards:  FMNL3  Malacards:  FMNL3

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:0005737	cytoplasm	IDA	cellular component
GO:0016477	cell migration	IMP	biological process
GO:0008360	regulation of cell shape	IMP	biological process
GO:0007010	cytoskeleton organization	IMP	biological process
GO:0032794	GTPase activating protein binding	ISS	molecular function
GO:0003779	actin binding	IEA	molecular function
GO:0007010	cytoskeleton organization	IEA	biological process
GO:0008360	regulation of cell shape	IEA	biological process
GO:0016477	cell migration	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:0001525	angiogenesis	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0032794	GTPase activating protein binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray