• Gene id: 25827

Gene Summary

• Gene Symbol: FBXL2   Gene   UCSC   Ensembl
• Aliases: FBL2, FBL3
• Gene name: F-box and leucine rich repeat protein 2
• Alternate names: F-box/LRR-repeat protein 2, F-box protein FBL2/FBL3, F-box protein containing leucine-rich repeats,
• Gene location: 3p22.3 (33277024: 33422697)     Exons: 22     NC_000003.12
• Gene summary(Entrez): This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), w

Protein Summary

• Protein general information: Q9UKC9  
  • Name: F box/LRR repeat protein 2 (F box and leucine rich repeat protein 2) (F box protein FBL2/FBL3)
  • Length: 423  
  • Mass: 47062
  • Tissue specificity: Expressed in brain, heart, kidney, liver, lung, pancreas and placenta. {ECO
• Sequence:

  MVFSNNDEGLINKKLPKELLLRIFSFLDIVTLCRCAQISKAWNILALDGSNWQRIDLFNFQTDVEGRVVENISKR
  CGGFLRKLSLRGCIGVGDSSLKTFAQNCRNIEHLNLNGCTKITDSTCYSLSRFCSKLKHLDLTSCVSITNSSLKG
  ISEGCRNLEYLNLSWCDQITKDGIEALVRGCRGLKALLLRGCTQLEDEALKHIQNYCHELVSLNLQSCSRITDEG
  VVQICRGCHRLQALCLSGCSNLTDASLTALGLNCPRLQILEAARCSHLTDAGFTLLARNCHELEKMDLEECILIT
  DSTLIQLSIHCPKLQALSLSHCELITDDGILHLSNSTCGHERLRVLELDNCLLITDVALEHLENCRGLERLELYD
  CQQVTRAGIKRMRAQLPHVKVHAYFAPVTPPTAVAGSGQRLCRCCVIL

• Structural information:
  • Protein Domains: (9..5-)
    (/note="F-box-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00080"-)
  • Interpro: IPR001810  IPR001611  IPR006553  IPR032675  
  • Prosite: PS50181
  • PDB: 6O60
  • PDBsum: 6O60
  • STRING: ENSP00000417601
• Other Databases: GeneCards:  FBXL2  Malacards:  FBXL2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006511	ubiquitin-dependent protein catabolic process	IBA	biological process
GO:0019005	SCF ubiquitin ligase complex	IBA	cellular component
GO:0031146	SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	IBA	biological process
GO:0014066	regulation of phosphatidylinositol 3-kinase signaling	IDA	biological process
GO:0016567	protein ubiquitination	IDA	biological process
GO:0031146	SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	IDA	biological process
GO:0019005	SCF ubiquitin ligase complex	IDA	cellular component
GO:0010506	regulation of autophagy	IMP	biological process
GO:0036312	phosphatidylinositol 3-kinase regulatory subunit binding	IPI	molecular function
GO:0036312	phosphatidylinositol 3-kinase regulatory subunit binding	IPI	molecular function
GO:0019903	protein phosphatase binding	IPI	molecular function
GO:0005516	calmodulin binding	IEA	molecular function
GO:0016032	viral process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	TAS	cellular component
GO:0006464	cellular protein modification process	TAS	biological process
GO:0006508	proteolysis	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006511	ubiquitin-dependent protein catabolic process	IEA	biological process
GO:0004842	ubiquitin-protein transferase activity	IEA	molecular function
GO:0006513	protein monoubiquitination	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0044830	modulation by host of viral RNA genome replication	IMP	biological process
GO:0044830	modulation by host of viral RNA genome replication	IMP	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Unexplained infertility	MIK: 25753583

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
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray