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Tbio Tumor necrosis factor receptor superfamily member 13C

B-cell receptor specific for TNFSF13B/TALL1/BAFF/BLyS. Promotes the survival of mature B-cells and the B-cell response.

B cell-activating factor (BAFF) enhances B-cell survival in vitro and is a regulator of the peripheral B-cell population. Overexpression of Baff in mice results in mature B-cell hyperplasia and symptoms of systemic lupus erythematosus (SLE). Also, some SLE patients have increased levels of BAFF in serum. Therefore, it has been proposed that abnormally high levels of BAFF may contribute to the pathogenesis of autoimmune diseases by enhancing the survival of autoreactive B cells. The protein encoded by this gene is a receptor for BAFF and is a type III transmembrane protein containing a single extracellular cysteine-rich domain. It is thought that this receptor is the principal receptor required for BAFF-mediated mature B-cell survival. [provided by RefSeq, Jul 2008]

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Property Summary

NCBI Gene PubMed Count 72
PubMed Score 146.27
PubTator Score 132.59

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (4)

Disease Target Count P-value
osteosarcoma 7933 2.97938366083588E-9
primary Sjogren syndrome 789 3.08879843205335E-5
tuberculosis 1563 4.61660608678951E-4
nasopharyngeal carcinoma 1056 5.03269093737133E-4
interstitial cystitis 2299 0.00111286857028908
ulcerative colitis 2087 0.0118641071787445
sonic hedgehog group medulloblastoma 1482 0.01602124061573
ductal carcinoma in situ 1745 0.0226893389662835
primitive neuroectodermal tumor 3031 0.0257341480916734
Disease Target Count Z-score Confidence
Common variable immunodeficiency 98 5.305 2.7

Expression

  Differential Expression (9)

Disease log2 FC p
osteosarcoma -3.329 0.000
primitive neuroectodermal tumor 1.400 0.026
tuberculosis -1.500 0.000
interstitial cystitis 3.800 0.001
sonic hedgehog group medulloblastoma 1.100 0.016
primary Sjogren syndrome 3.000 0.000
nasopharyngeal carcinoma -2.200 0.001
ductal carcinoma in situ 2.000 0.023
ulcerative colitis 2.200 0.012

Synonym

Accession Q96RJ3
Symbols BAFFR
CD268
CVID4
BAFF-R
BROMIX
prolixin

Gene

TNFRSF13C

PDB

1MPV   1OQE   1OSX   2HFG   3V56   4V46  

  Ortholog (7)

Species Source
Chimp OMA EggNOG
Mouse OMA EggNOG Inparanoid
Rat OMA Inparanoid
Dog OMA EggNOG
Horse OMA EggNOG Inparanoid
Cow OMA EggNOG
Chicken OMA Inparanoid

 GO Component (3)

 GO Process (9)

 Compartment GO Term (18)

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 MGI Term (3)

 HCA RNA Cell Line (56)

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Pathway (9)

 UniProt Keyword (14)

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Gene RIF (63)

PMID Text
26613719 genetic polymorphism contributes to the pathogenesis of primary antibody deficiency
26327569 Negative expression of BAFF-R, but not of BAFF, could be an independent risk factor for progression-free survival and Overall survival in patients with diffuse large B-cell lymphoma treated with standard R-CHOP.
26214745 BAFF and BAFF-R are expressed in the thyrocytes derived from patients with either autoimmune thyroid disorders or multinodular goiter, as well in the infiltrating immune cells of Graves' disease and Hashimoto's thyroiditis
26122175 Variants of TNFRSF13C were associated with common variable immunodeficiency.
26097183 There is an increased prevalence of the BAFF-R His159Tyr mutation in patients with Sjogren's syndrome (SS), particularly in those with SS complicated by MALT lymphoma whose disease onset occurred at a younger age.
25569260 Expression of mutant caspase-9 correlated with a downregulation of BAFFR (B-cell-activating factor belonging to the TNF family (BAFF) receptor) in B cells and ICOS (inducible T-cell costimulator) in T cells.
25454804 the common TLR4-D299G, TLR4-T399I and BAFFR-P21R polymorphisms provide the carriers with a protective advantage against ICU-acquired sepsis; this finding was more profound for medical patients compared to trauma or surgical ones
25301447 Data show significant differences in expression of tumour necrosis factor family (BAFF) receptors BAFF-R, BCMA and TACI in patients with and without anti-Jo-1 or anti-Ro52/anti-Ro60 autoantibodies.
24825858 In view of the restricted expression of the BAFF-R on normal cells and the multiple anti-pre-B ALL activities stimulated by this antibody, a further examination of its use for treatment of pre-B ALL is warranted.
24809296 Availability of BAFF determines BAFF-R and TACI expression on B cells in common variable immunodeficiency.
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AA Sequence 

MRRGPRSLRGRDAPAPTPCVPAECFDLLVRHCVACGLLRTPRPKPAGASSPAPRTALQPQESVGAGAGEA      1 - 70
ALPLPGLLFGAPALLGLALVLALVLVGLVSWRRRQRRLRGASSAEAPDGDKDAPEPLDKVIILSPGISDA     71 - 140
TAPAWPPPGEDPGTTPPGHSVPVPATELGSTELVTTKTAGPEQQ                              141 - 184
//

Text Mined References (74)

PMID Year Title
26613719 2016 Monoallelic BAFFR P21R/H159Y Mutations and Familiar Primary Antibody Deficiencies.
26327569 2015 Expression of BAFF-R, but not BAFF, is an independent prognostic factor in diffuse large B-cell lymphoma patients treated with R-CHOP.
26214745 2015 B Cell Activating Factor (BAFF) and BAFF Receptor Expression in Autoimmune and Nonautoimmune Thyroid Diseases.
26122175 2015 Application of whole genome and RNA sequencing to investigate the genomic landscape of common variable immunodeficiency disorders.
26097183 2015 A BAFF receptor His159Tyr mutation in Sjögren's syndrome-related lymphoproliferation.
25569260 2015 A mutation in caspase-9 decreases the expression of BAFFR and ICOS in patients with immunodeficiency and lymphoproliferation.
25454804 2015 Genetic polymorphisms of innate and adaptive immunity as predictors of outcome in critically ill patients.
25301447 2014 Expression of BAFF receptors in muscle tissue of myositis patients with anti-Jo-1 or anti-Ro52/anti-Ro60 autoantibodies.
25056061 2014 Biological insights from 108 schizophrenia-associated genetic loci.
24825858 2014 Effector-mediated eradication of precursor B acute lymphoblastic leukemia with a novel Fc-engineered monoclonal antibody targeting the BAFF-R.
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