• Gene id: 9209

Gene Summary

• Gene Symbol: LRRFIP2   Gene   UCSC   Ensembl
• Aliases: HUFI-2
• Gene name: LRR binding FLII interacting protein 2
• Alternate names: leucine-rich repeat flightless-interacting protein 2, LRR FLII-interacting protein 2, leucine rich repeat (in FLII) interacting protein 2,
• Gene location: 3p22.2 (51995894: 51993521)     Exons: 4     NC_000003.12
• Gene summary(Entrez): The protein encoded by this gene, along with MYD88, binds to the cytosolic tail of toll-like receptor 4 (TLR4), which results in activation of nuclear factor kappa B signaling. The ubiquitin-like protein FAT10 prevents the interaction of the encoded prote
• OMIM: 614043

Protein Summary

• Protein general information: Q9Y608  
  • Name: Leucine rich repeat flightless interacting protein 2 (LRR FLII interacting protein 2)
  • Length: 721  
  • Mass: 82171
  • Tissue specificity: Widely expressed, with highest levels in heart and skeletal muscle. {ECO
• Sequence:

  MGTPASGRKRTPVKDRFSAEDEALSNIAREAEARLAAKRAARAEARDIRMRELERQQKEYSLHSFDRKWGQIQKW
  LEDSERARYSHRSSHHRPYLGVEDALSIRSVGSHRYDMFKDRSSRLSSLNHSYSHSHGMKKRSSDSHKDLLSGLY
  FDQRNYSSLRHSKPTSAYYTRQSSSLYSDPLATYKSDRASPTANSGLLRSASLASLYNGGLYNPYGPRTPSECSY
  YSSRISSARSSPGFTNDDTASIVSSDRASRGRRESVVSAADYFSRSNRRGSVVSEVDDISIPDLSSLDEKSDKQY
  AENYTRPSSRNSASATTPLSGNSSRRGSGDTSSLIDPDTSLSELRDIYDLKDQIQDVEGRYMQGLKELKESLSEV
  EEKYKKAMVSNAQLDNEKNNLIYQVDTLKDVIEEQEEQMAEFYRENEEKSKELERQKHMCSVLQHKMEELKEGLR
  QRDELIEEKQRMQQKIDTMTKEVFDLQETLLWKDKKIGALEKQKEYIACLRNERDMLREELADLQETVKTGEKHG
  LVIIPDGTPNGDVSHEPVAGAITVVSQEAAQVLESAGEGPLDVRLRKLAGEKEELLSQIRKLKLQLEEERQKCSR
  NDGTVGDLAGLQNGSDLQFIEMQRDANRQISEYKFKLSKAEQDITTLEQSISRLEGQVLRYKTAAENAEKVEDEL
  KAEKRKLQRELRTALDKIEEMEMTNSHLAKRLEKMKANRTALLAQQ

• Structural information:
  • Interpro: IPR019139  
  • STRING: ENSP00000338727
• Other Databases: GeneCards:  LRRFIP2  Malacards:  LRRFIP2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0016055	Wnt signaling pathway	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0030275	LRR domain binding	IPI	molecular function
GO:0008150	biological_process	ND	biological process
GO:0005575	cellular_component	ND	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881