Endometriosis Knowledgebase

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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 accession	Term name	Evidence code	Go 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