• Gene id: 93185

Gene Summary

• Gene Symbol: IGSF8   Gene   UCSC   Ensembl
• Aliases: CD316, CD81P3, EWI-2, EWI2, KCT-4, LIR-D1, PGRL
• Gene name: immunoglobulin superfamily member 8
• Alternate names: immunoglobulin superfamily member 8, CD81 partner 3, glu-Trp-Ile EWI motif-containing protein 2, keratinocytes-associated transmembrane protein 4, prostaglandin regulatory-like protein,
• Gene location: 1q23.2 (160099441: 160091338)     Exons: 12     NC_000001.11
• Gene summary(Entrez): This gene encodes a member the EWI subfamily of the immunoglobulin protein superfamily. Members of this family contain a single transmembrane domain, an EWI (Glu-Trp-Ile)-motif and a variable number of immunoglobulin domains. This protein interacts with t
• OMIM: 300235

Protein Summary

• Protein general information: Q969P0  
  • Name: Immunoglobulin superfamily member 8 (IgSF8) (CD81 partner 3) (Glu Trp Ile EWI motif containing protein 2) (EWI 2) (Keratinocytes associated transmembrane protein 4) (KCT 4) (LIR D1) (Prostaglandin regulatory like protein) (PGRL) (CD antigen CD316)
  • Length: 613  
  • Mass: 65034
  • Tissue specificity: Expressed in brain, kidney, testis, liver and placenta with moderate expression in all other tissues. Detected on a majority of B-cells, T-cells, and natural killer cells but not on monocytes, polynuclear cells and platelets. {ECO
• Sequence:

  MGALRPTLLPPSLPLLLLLMLGMGCWAREVLVPEGPLYRVAGTAVSISCNVTGYEGPAQQNFEWFLYRPEAPDTA
  LGIVSTKDTQFSYAVFKSRVVAGEVQVQRLQGDAVVLKIARLQAQDAGIYECHTPSTDTRYLGSYSGKVELRVLP
  DVLQVSAAPPGPRGRQAPTSPPRMTVHEGQELALGCLARTSTQKHTHLAVSFGRSVPEAPVGRSTLQEVVGIRSD
  LAVEAGAPYAERLAAGELRLGKEGTDRYRMVVGGAQAGDAGTYHCTAAEWIQDPDGSWAQIAEKRAVLAHVDVQT
  LSSQLAVTVGPGERRIGPGEPLELLCNVSGALPPAGRHAAYSVGWEMAPAGAPGPGRLVAQLDTEGVGSLGPGYE
  GRHIAMEKVASRTYRLRLEAARPGDAGTYRCLAKAYVRGSGTRLREAASARSRPLPVHVREEGVVLEAVAWLAGG
  TVYRGETASLLCNISVRGGPPGLRLAASWWVERPEDGELSSVPAQLVGGVGQDGVAELGVRPGGGPVSVELVGPR
  SHRLRLHSLGPEDEGVYHCAPSAWVQHADYSWYQAGSARSGPVTVYPYMHALDTLFVPLLVGTGVALVTGATVLG
  TITCCFMKRLRKR

• Structural information:
  • Protein Domains: (28..14-)
    1 (/note="Ig-like-C2-type)
    (162..28-)
    2 (/note="Ig-like-C2-type)
    (303..42-)
    3 (/note="Ig-like-C2-type)
    (431..56-)
    4" (/note="Ig-like-C2-type)
  • Interpro: IPR007110  IPR036179  IPR013783  IPR003599  IPR013106  
  • Prosite: PS50835
  • STRING: ENSP00000357065
• Other Databases: GeneCards:  IGSF8  Malacards:  IGSF8

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016021	integral component of membrane	IBA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	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:0005515	protein binding	IPI	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0016021	integral component of membrane	IDA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0007519	skeletal muscle tissue development	NAS	biological process
GO:0007399	nervous system development	NAS	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0048870	cell motility	NAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0007338	single fertilization	NAS	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R