Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 10673
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol TNFSF13B   Gene   UCSC   Ensembl
Aliases BAFF, BLYS, CD257, DTL, TALL-1, TALL1, THANK, TNFSF20, TNLG7A, ZTNF4
Gene name TNF superfamily member 13b
Alternate names tumor necrosis factor ligand superfamily member 13B, ApoL related ligand TALL-1, B-cell-activating factor, B-lymphocyte stimulator, Delta4 BAFF, TNF and ApoL-related leukocyte expressed ligand 1, TNF homolog that activates apoptosis, delta BAFF, dendritic cell-de,
Gene location 13q33.3 (108268239: 108308483)     Exons: 7     NC_000013.11
Gene summary(Entrez) The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This cytokine is a ligand for receptors TNFRSF13B/TACI, TNFRSF17/BCMA, and TNFRSF13C/BAFFR. This cytokine is expressed in B cell lineage cells, and acts as a potent B cell activator. It has been also shown to play an important role in the proliferation and differentiation of B cells. Alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Mar 2011]
OMIM 603969

Protein Summary

Protein general information Q9Y275  

Name: Tumor necrosis factor ligand superfamily member 13B (B lymphocyte stimulator) (BLyS) (B cell activating factor) (BAFF) (Dendritic cell derived TNF like molecule) (TNF and APOL related leukocyte expressed ligand 1) (TALL 1) (CD antigen CD257) [Cleaved int

Length: 285  Mass: 31,223

Tissue specificity: Abundantly expressed in peripheral blood Leukocytes and is specifically expressed in monocytes and macrophages. Also found in the spleen, lymph node, bone marrow, T-cells and dendritic cells. A lower expression seen in placenta, heart,

Sequence MDDSTEREQSRLTSCLKKREEMKLKECVSILPRKESPSVRSSKDGKLLAATLLLALLSCCLTVVSFYQVAALQGD
LASLRAELQGHHAEKLPAGAGAPKAGLEEAPAVTAGLKIFEPPAPGEGNSSQNSRNKRAVQGPEETVTQDCLQLI
ADSETPTIQKGSYTFVPWLLSFKRGSALEEKENKILVKETGYFFIYGQVLYTDKTYAMGHLIQRKKVHVFGDELS
LVTLFRCIQNMPETLPNNSCYSAGIAKLEEGDELQLAIPRENAQISLDGDVTFFGALKLL
Structural information
Interpro:  IPR006052 IPR008983
Prosite:   PS50049

Pfam:  
PF00229

PDB:  
1JH5 1KD7 1KXG 1OQD 1OQE 1OSG 3V56 4V46 4ZCH
PDBsum:   1JH5 1KD7 1KXG 1OQD 1OQE 1OSG 3V56 4V46 4ZCH

DIP:  
6225
STRING:   ENSP00000365048;
Other Databases GeneCards:  TNFSF13B;  Malacards:  TNFSF13B

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0005102 receptor binding
TAS molecular_function
GO:0005125 cytokine activity
IEA molecular_function
GO:0005164 tumor necrosis factor rec
eptor binding
IEA molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005615 extracellular space
IEA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005886 plasma membrane
IEA cellular_component
GO:0006955 immune response
IEA biological_process
GO:0007165 signal transduction
TAS biological_process
GO:0008283 cell proliferation
TAS biological_process
GO:0008284 positive regulation of ce
ll proliferation
TAS biological_process
GO:0016021 integral component of mem
brane
NAS cellular_component
GO:0030890 positive regulation of B
cell proliferation
IMP biological_process
GO:0033209 tumor necrosis factor-med
iated signaling pathway
TAS biological_process
GO:0033209 tumor necrosis factor-med
iated signaling pathway
TAS biological_process
GO:0048471 perinuclear region of cyt
oplasm
IDA cellular_component
GO:0002376 immune system process
IEA biological_process
GO:0005102 receptor binding
TAS molecular_function
GO:0005125 cytokine activity
IEA molecular_function
GO:0005164 tumor necrosis factor rec
eptor binding
IEA molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005576 extracellular region
IEA cellular_component
GO:0005576 extracellular region
IEA cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005615 extracellular space
IEA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005886 plasma membrane
IEA cellular_component
GO:0005886 plasma membrane
IEA cellular_component
GO:0006955 immune response
IEA biological_process
GO:0007165 signal transduction
TAS biological_process
GO:0008283 cell proliferation
TAS biological_process
GO:0008284 positive regulation of ce
ll proliferation
TAS 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:0016021 integral component of mem
brane
NAS cellular_component
GO:0030890 positive regulation of B
cell proliferation
IMP biological_process
GO:0033209 tumor necrosis factor-med
iated signaling pathway
TAS biological_process
GO:0033209 tumor necrosis factor-med
iated signaling pathway
TAS biological_process
GO:0048471 perinuclear region of cyt
oplasm
IDA cellular_component
GO:0005102 receptor binding
TAS molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0007165 signal transduction
TAS biological_process
GO:0008283 cell proliferation
TAS biological_process
GO:0008284 positive regulation of ce
ll proliferation
TAS biological_process
GO:0016021 integral component of mem
brane
NAS cellular_component
GO:0030890 positive regulation of B
cell proliferation
IMP biological_process
GO:0033209 tumor necrosis factor-med
iated signaling pathway
TAS biological_process
GO:0033209 tumor necrosis factor-med
iated signaling pathway
TAS biological_process
GO:0048471 perinuclear region of cyt
oplasm
IDA cellular_component

KEGG pathways

hsa04060  Cytokine-cytokine receptor interaction
hsa05323  Rheumatoid arthritis
hsa04064  NF-kappa B signaling pathway
hsa04672  Intestinal immune network for IgA production

Diseases

Associated diseases References
Amyotrophic lateral sclerosis (ALS) PMID: 18057069
Endometriosis PMID: 21883351
Endometriosis associated infertility INFBASE21883351
Endometriosis INFBASE21883351
Rheumatoid arthritis PMID: 12424625
Sjogren's syndrome PMID: 16507129
Systemic lupus erythematosus PMID: 12424625

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
20004378 Endometrio
sis
BLyS -817C/T

BLyS
Show abstract
21883351 Endometrio
sis
BLys 817C/T Brazili
an
165 infertile w
omen with endom
etriosis (83 wi
th idiopathic i
nfertility, 145
fertile)
Female infertility
Show abstract