Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 93185
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

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 (177265130: 177230302)     Exons: 6     NC_000002.12
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 the tetraspanins CD81 and CD9 and may regulate their role in certain cellular functions including cell migration and viral infection. The encoded protein may also function as a tumor suppressor by inhibiting the proliferation of certain cancers. Alternate splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Sep 2011]
OMIM 606644

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: 65,034

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
Ig-like (28-149)
Ig-like (162-286)
Ig-like (303-424)
Ig-like (431-560)

Motifs
EWI motif.(274-276)
Interpro:  IPR007110 IPR036179 IPR013783 IPR003599 IPR013106
Prosite:   PS50835

Pfam:  
PF07686
MINT:  
STRING:   ENSP00000316664;
Other Databases GeneCards:  IGSF8;  Malacards:  IGSF8

Gene ontology


GO accessionTerm nameEvidence codeGo category
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:0006928 movement of cell or subce
llular component
NAS biological_process
GO:0007338 single fertilization
NAS biological_process
GO:0007399 nervous system developmen
t
NAS biological_process
GO:0007519 skeletal muscle tissue de
velopment
NAS biological_process
GO:0008283 cell proliferation
NAS biological_process
GO:0016020 membrane
IDA cellular_component
GO:0016021 integral component of mem
brane
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
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:0005886 plasma membrane
IEA cellular_component
GO:0006928 movement of cell or subce
llular component
NAS biological_process
GO:0007338 single fertilization
NAS biological_process
GO:0007399 nervous system developmen
t
NAS biological_process
GO:0007519 skeletal muscle tissue de
velopment
NAS biological_process
GO:0008283 cell proliferation
NAS biological_process
GO:0016020 membrane
IEA cellular_component
GO:0016020 membrane
IDA cellular_component
GO:0016021 integral component of mem
brane
IEA cellular_component
GO:0016021 integral component of mem
brane
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0006928 movement of cell or subce
llular component
NAS biological_process
GO:0007338 single fertilization
NAS biological_process
GO:0007399 nervous system developmen
t
NAS biological_process
GO:0007519 skeletal muscle tissue de
velopment
NAS biological_process
GO:0008283 cell proliferation
NAS biological_process
GO:0016020 membrane
IDA cellular_component
GO:0016021 integral component of mem
brane
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component

Diseases

Associated diseases References
Endometriosis INFBASE28544021

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
28544021 Endometrio
sis



Show abstract