Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 9308
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol CD83   Gene   UCSC   Ensembl
Aliases BL11, HB15
Gene name CD83 molecule
Alternate names CD83 antigen, B-cell activation protein, CD83 antigen (activated B lymphocytes, immunoglobulin superfamily), cell surface protein HB15, cell-surface glycoprotein, hCD83,
Gene location 6p23 (49689522: 49683946)     Exons: 18     NC_000003.12
Gene summary(Entrez) The protein encoded by this gene is a single-pass type I membrane protein and member of the immunoglobulin superfamily of receptors. The encoded protein may be involved in the regulation of antigen presentation. A soluble form of this protein can bind to dendritic cells and inhibit their maturation. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
OMIM 604534

Protein Summary

Protein general information Q01151  

Name: CD83 antigen (hCD83) (B-cell activation protein) (Cell surface protein HB15) (CD antigen CD83)

Length: 205  Mass: 23,042

Tissue specificity: Expressed by activated lymphocytes, Langerhans cells and interdigitating reticulum cells.

Sequence MSRGLQLLLLSCAYSLAPATPEVKVACSEDVDLPCTAPWDPQVPYTVSWVKLLEGGEERMETPQEDHLRGQHYHQ
KGQNGSFDAPNERPYSLKIRNTTSCNSGTYRCTLQDPDGQRNLSGKVILRVTGCPAQRKEETFKKYRAEIVLLLA
LVIFYLTLIIFTCKFARLQSIFPDFSKAGMERAFLPVTSPNKHLGLVTPHKTELV
Structural information
Protein Domains
Ig-like (20-114)
Interpro:  IPR007110 IPR036179 IPR013783 IPR003599 IPR013106
Prosite:   PS50835

Pfam:  
PF07686

PDB:  
5MIX 5MJ0 5MJ1 5MJ2
PDBsum:   5MIX 5MJ0 5MJ1 5MJ2
STRING:   ENSP00000368450;
Other Databases GeneCards:  CD83;  Malacards:  CD83

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0001817 regulation of cytokine pr
oduction
IBA biological_process
GO:0005886 plasma membrane
TAS cellular_component
GO:0005887 integral component of pla
sma membrane
TAS cellular_component
GO:0006952 defense response
TAS biological_process
GO:0006959 humoral immune response
TAS biological_process
GO:0007165 signal transduction
TAS biological_process
GO:0009897 external side of plasma m
embrane
IEA cellular_component
GO:0014070 response to organic cycli
c compound
IEA biological_process
GO:0032713 negative regulation of in
terleukin-4 production
IEA biological_process
GO:0032733 positive regulation of in
terleukin-10 production
IEA biological_process
GO:0032743 positive regulation of in
terleukin-2 production
IEA biological_process
GO:0043372 positive regulation of CD
4-positive, alpha-beta T
cell differentiation
IEA biological_process
GO:0001817 regulation of cytokine pr
oduction
IBA biological_process
GO:0005886 plasma membrane
TAS cellular_component
GO:0005887 integral component of pla
sma membrane
TAS cellular_component
GO:0006952 defense response
TAS biological_process
GO:0006959 humoral immune response
TAS biological_process
GO:0007165 signal transduction
TAS biological_process
GO:0009897 external side of plasma m
embrane
IEA cellular_component
GO:0014070 response to organic cycli
c compound
IEA biological_process
GO:0016020 membrane
IEA cellular_component
GO:0016020 membrane
IEA cellular_component
GO:0016021 integral component of mem
brane
IEA cellular_component
GO:0032713 negative regulation of in
terleukin-4 production
IEA biological_process
GO:0032733 positive regulation of in
terleukin-10 production
IEA biological_process
GO:0032743 positive regulation of in
terleukin-2 production
IEA biological_process
GO:0043372 positive regulation of CD
4-positive, alpha-beta T
cell differentiation
IEA biological_process
GO:0001817 regulation of cytokine pr
oduction
IBA biological_process
GO:0005886 plasma membrane
TAS cellular_component
GO:0005887 integral component of pla
sma membrane
TAS cellular_component
GO:0006952 defense response
TAS biological_process
GO:0006959 humoral immune response
TAS biological_process
GO:0007165 signal transduction
TAS biological_process

Diseases

Associated diseases References
Adenocarcinoma GAD18056445
Multiple Sclerosis GAD19010793
Cervical cancer GAD19446866
Endometriosis PubMed19321495

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
19321495 Endometrio
sis

61(33 women wit
h endometriosis
, 28 without en
dometriosis )
CD1a
Show abstract