Property Summary

NCBI Gene PubMed Count 102
Grant Count 140
R01 Count 52
Funding $15,574,174.28
PubMed Score 191.54
PubTator Score 159.01

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (3)

Disease log2 FC p
Waldenstrons macroglobulinemia 1.216 0.002
diabetes mellitus 1.500 0.001
ovarian cancer -1.400 0.000

Synonym

Accession O14836 B2R8B0 B7Z6V8 Q32LX4 Q7Z6F5
Symbols CVID
RYZN
TACI
CD267
CVID2
IGAD2
TNFRSF14B

Gene

PDB

1XU1   1XUT  

 GO Function (1)

Gene RIF (91)

PMID Text
27123465 11% of common variable immunodeficiency patients and 13% of antibody deficiency syndromes patients carried at least one mutated TNFRSF13B allele.
26727773 C104R mutation was associated with common variable immunodeficiency and IgG subclass deficiency.
26268376 SNPs rs9514828 (BAFF), rs3803800 (APRIL) and rs4985726 (TACI) may be associated with the risk of development of B-cell chronic lymphocytic leukemia in a Polish population.
26122175 Variants of TNFRSF13B were associated with common variable immunodeficiency.
26100089 TNFRSF13B hemizygosity does not recapitulate autoimmune features of common variable immune deficiency -associated C104R and A181E TNFRSF13B mutations, which likely encode dominant negative products, but instead reveals selective TACI haploinsufficiency at later stages of B-cell development.
26096648 In this review, we aim at giving an insight into the genetics underlying the CVID and particularly at outlining the role of TACI and its relative contribution to the development of CVID-like phenotypes in human.
25950010 The study demonstrated that there is a remarkable interindividual variability of TACI expression in chronic lymphocytic leukemia, although the majority of patients display low to undetectable TACI.
25866827 Common variable immune deficiency patients with heterozygous mutations in TACI alleles increase susceptibility to autoimmune diseases.
25723853 only Transmembrane Activator and CAML Interactor (TACI) correlates with the MMC's capability to ligate BAFF. Additionally, the level of expression of TACI correlates with the level of the MMC's BM dependency
25631768 Although the transcriptional controls for alternative splicing of TACI isoforms remain unknown, differential signals via isoforms may control plasma-cell generation.
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AA Sequence

MSGLGRSRRGGRSRVDQEERFPQGLWTGVAMRSCPEEQYWDPLLGTCMSCKTICNHQSQRTCAAFCRSLS      1 - 70
CRKEQGKFYDHLLRDCISCASICGQHPKQCAYFCENKLRSPVNLPPELRRQRSGEVENNSDNSGRYQGLE     71 - 140
HRGSEASPALPGLKLSADQVALVYSTLGLCLCAVLCCFLVAVACFLKKRGDPCSCQPRSRPRQSPAKSSQ    141 - 210
DHAMEAGSPVSTSPEPVETCSFCFPECRAPTQESAVTPGTPDPTCAGRWGCHTRTTVLQPCPHIPDSGLG    211 - 280
IVCVPAQEGGPGA                                                             281 - 293
//

Text Mined References (104)

PMID Year Title
27123465 2016 Clinical Associations of Biallelic and Monoallelic TNFRSF13B Variants in Italian Primary Antibody Deficiency Syndromes.
26727773 2015 Incidence of the C104R TACI Mutation in Patients With Primary Antibody Deficiency.
26268376 2015 Polymorphisms in genes of the BAFF/APRIL system may constitute risk factors of B-CLL--a preliminary study on a Polish population.
26122175 2015 Application of whole genome and RNA sequencing to investigate the genomic landscape of common variable immunodeficiency disorders.
26100089 2015 TNF receptor superfamily member 13b (TNFRSF13B) hemizygosity reveals transmembrane activator and CAML interactor haploinsufficiency at later stages of B-cell development.
26096648 2015 Genetics of common variable immunodeficiency: role of transmembrane activator and calcium modulator and cyclophilin ligand interactor.
25950010 2015 TACI expression and signaling in chronic lymphocytic leukemia.
25866827 2015 Effect of TACI signaling on humoral immunity and autoimmune diseases.
25723853 2015 B-cell activating factor in the pathophysiology of multiple myeloma: a target for therapy?
25631768 2015 Differential induction of plasma cells by isoforms of human TACI.
More...