• Gene id: 83786

Gene Summary

• Gene Symbol: FRMD8   Gene   UCSC   Ensembl
• Aliases: FKSG44, iTAP
• Gene name: FERM domain containing 8
• Alternate names: FERM domain-containing protein 8, band4.1 inhibitor LRP interactor, bili, iRhom Tail-Associated Protein,
• Gene location: 11q13.1 (65386636: 65413524)     Exons: 11     NC_000011.10

Protein Summary

• Protein general information: Q9BZ67  
  • Name: FERM domain containing protein 8 (Band4.1 inhibitor LRP interactor) (Bili) (iRhom tail associated protein) (iTAP)
  • Length: 464  
  • Mass: 51218
  • Tissue specificity: Widely expressed, with high expression in heart and spleen. {ECO
• Sequence:

  MDGTEGSAGQPGPAERSHRSSVSSVGARAADVLVYLADDTVVPLAVENLPSLSAHELHRAVREVLQLPDIALDVF
  ALWLVSPLLEVQLKPKHQPYKLGRQWPELLLRFTSAPDDDVAMDEPFLQFRRNVFFPKRRELQIHDEEVLRLLYE
  EAKGNVLAARYPCDVEDCEALGALVCRVQLGPYQPGRPAACDLREKLDSFLPAHLCKRGQSLFAALRGRGARAGP
  GEQGLLNAYRQVQEVSSDGGCEAALGTHYRAYLLKCHELPFYGCAFFHGEVDKPAQGFLHRGGRKPVSVAISLEG
  VHVIDSREKHVLLGLRFQELSWDHTSPEEEEPILWLEFDGDSEGTPVNKLLKIYSKQAELMSSLIEYCIELSQAA
  EPAGPQDSATGSPSDPSSSLAPVQRPKLRRQGSVVSSRIQHLSTIDYVEDGKGIRRVKPKRTTSFFSRQLSLGQG
  SYTVVQPGDSLEQG

• Structural information:
  • Protein Domains: (30..37-)
    (/note="FERM-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00084"-)
  • Interpro: IPR019749  IPR014352  IPR035963  IPR019748  IPR000299   IPR011993  
  • Prosite: PS50057
  • CDD: cd14473
  • STRING: ENSP00000319726
• Other Databases: GeneCards:  FRMD8  Malacards:  FRMD8

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005829	cytosol	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:1904469	positive regulation of tumor necrosis factor secretion	IDA	biological process
GO:1904469	positive regulation of tumor necrosis factor secretion	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005856	cytoskeleton	IEA	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			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881