Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 969
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol CD69   Gene   UCSC   Ensembl
Aliases AIM, BL-AC/P26, CLEC2C, EA1, GP32/28, MLR-3
Gene name CD69 molecule
Alternate names early activation antigen CD69, C-type lectin domain family 2, member C, CD69 antigen (p60, early T-cell activation antigen), activation inducer molecule (AIM/CD69), early T-cell activation antigen p60, early lymphocyte activation antigen, leukocyte surface anti,
Gene location 12p13.31 (9760900: 9752485)     Exons: 5     NC_000012.12
Gene summary(Entrez) This gene encodes a member of the calcium dependent lectin superfamily of type II transmembrane receptors. Expression of the encoded protein is induced upon activation of T lymphocytes, and may play a role in proliferation. Furthermore, the protein may act to transmit signals in natural killer cells and platelets. [provided by RefSeq, Aug 2011]
OMIM 107273

Protein Summary

Protein general information Q07108  

Name: Early activation antigen CD69 (Activation inducer molecule) (AIM) (BL AC/P26) (C type lectin domain family 2 member C) (EA1) (Early T cell activation antigen p60) (GP32/28) (Leukocyte surface antigen Leu 23) (MLR 3) (CD antigen CD69)

Length: 199  Mass: 22,559

Tissue specificity: Expressed on the surface of activated T-cells, B-cells, natural killer cells, neutrophils, eosinophils, epidermal Langerhans cells and platelets.

Sequence MSSENCFVAENSSLHPESGQENDATSPHFSTRHEGSFQVPVLCAVMNVVFITILIIALIALSVGQYNCPGQYTFS
MPSDSHVSSCSEDWVGYQRKCYFISTVKRSWTSAQNACSEHGATLAVIDSEKDMNFLKRYAGREEHWVGLKKEPG
HPWKWSNGKEFNNWFNVTGSDKCVFLKNTEVSSMECEKNLYWICNKPYK
Structural information
Protein Domains
C-type (92-195)
Interpro:  IPR001304 IPR016186 IPR016187 IPR033992
Prosite:   PS50041

Pfam:  
PF00059
CDD:   cd03593

PDB:  
1E87 1E8I 1FM5 3CCK 3HUP
PDBsum:   1E87 1E8I 1FM5 3CCK 3HUP

DIP:  
60426
MINT:   4656238
STRING:   ENSP00000228434;
Other Databases GeneCards:  CD69;  Malacards:  CD69

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0004888 transmembrane signaling r
eceptor activity
TAS molecular_function
GO:0005509 calcium ion binding
IEA molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005887 integral component of pla
sma membrane
TAS cellular_component
GO:0007165 signal transduction
IEA biological_process
GO:0009897 external side of plasma m
embrane
IEA cellular_component
GO:0030246 carbohydrate binding
IEA molecular_function
GO:0035690 cellular response to drug
IEA biological_process
GO:0004888 transmembrane signaling r
eceptor activity
TAS molecular_function
GO:0005509 calcium ion binding
IEA molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005887 integral component of pla
sma membrane
TAS cellular_component
GO:0007165 signal transduction
IEA biological_process
GO:0009897 external side of plasma m
embrane
IEA cellular_component
GO:0016020 membrane
IEA cellular_component
GO:0016020 membrane
IEA cellular_component
GO:0016021 integral component of mem
brane
IEA cellular_component
GO:0030246 carbohydrate binding
IEA molecular_function
GO:0035690 cellular response to drug
IEA biological_process
GO:0004888 transmembrane signaling r
eceptor activity
TAS molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005887 integral component of pla
sma membrane
TAS cellular_component

Diseases

Associated diseases References
Addison's disease PMID: 18593762
Diabetes PMID: 19430480
Endometriosis PMID: 16533339
Recurrent pregnancy loss (RPL)/ Abortion/ Miscarriage/ Recurrent pregnancy failure/Pregnancy loss/ Recurrent miscarriage/ Spontaneous abortion PMID: 11331628
Rheumatoid arthritis PMID: 18627570
Endometriosis INFBASE15259373
Unexplained infertility PMID: 24597237

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
16533339 Endometrio
sis


CD56
CD95
CD69
Show abstract
15259373 Endometrio
sis

48 (30 patients
with laparosco
pically diagnos
ed early endome
triosis, 18 hea
lthy controls)
CD69
Show abstract