Gene: TNFRSF13B

Alternate names for this Gene: CD267|CVID|CVID2|IGAD2|RYZN|TACI|TNFRSF14B

Gene Summary: The protein encoded by this gene is a lymphocyte-specific member of the tumor necrosis factor (TNF) receptor superfamily. It interacts with calcium-modulator and cyclophilin ligand (CAML). The protein induces activation of the transcription factors NFAT, AP1, and NF-kappa-B and plays a crucial role in humoral immunity by interacting with a TNF ligand. This gene is located within the Smith-Magenis syndrome region on chromosome 17.

Gene is located in Chromosome: 17

Location in Chromosome : 17p11.2

Description of this Gene: TNF receptor superfamily member 13B

Type of Gene: protein-coding

rs4985726 in TNFRSF13B gene and Blood Protein Measurement PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs104894649 in TNFRSF13B gene and IMMUNODEFICIENCY, COMMON VARIABLE, 2 PMID 16007086 2005 TACI is mutant in common variable immunodeficiency and IgA deficiency.

PMID 19779048 2009 Role of TNFRSF13B variants in patients with common variable immunodeficiency.

PMID 21419480 2011 Functional analysis of transmembrane activator and calcium-modulating cyclophilin ligand interactor (TACI) mutations associated with common variable immunodeficiency.

PMID 17392797 2007 Reexamining the role of TACI coding variants in common variable immunodeficiency and selective IgA deficiency.

PMID 22697072 2012 The impact of TACI mutations: from hypogammaglobulinemia in infancy to autoimmunity in adulthood.

PMID 24051380 2013 CVID-associated TACI mutations affect autoreactive B cell selection and activation.

PMID 21458042 2011 The C76R transmembrane activator and calcium modulator cyclophilin ligand interactor mutation disrupts antibody production and B-cell homeostasis in heterozygous and homozygous mice.

PMID 23237420 2013 TACI mutations and impaired B-cell function in subjects with CVID and healthy heterozygotes.

PMID 20889194 2010 The C104R mutant impairs the function of transmembrane activator and calcium modulator and cyclophilin ligand interactor (TACI) through haploinsufficiency.

PMID 27123465 2016 Clinical Associations of Biallelic and Monoallelic TNFRSF13B Variants in Italian Primary Antibody Deficiency Syndromes.

PMID 22884984 2012 Sequence variants of the TNFRSF13B gene in Czech CVID and IgAD patients in the context of other populations.

PMID 22983507 2013 Clinical variability of family members with the C104R mutation in transmembrane activator and calcium modulator and cyclophilin ligand interactor (TACI).

PMID 16007087 2005 Mutations in TNFRSF13B encoding TACI are associated with common variable immunodeficiency in humans.

PMID 18981294 2009 Relevance of biallelic versus monoallelic TNFRSF13B mutations in distinguishing disease-causing from risk-increasing TNFRSF13B variants in antibody deficiency syndromes.

PMID 26046366 2015 Individualized iterative phenotyping for genome-wide analysis of loss-of-function mutations.

PMID 26100089 2015 TNF receptor superfamily member 13b (TNFRSF13B) hemizygosity reveals transmembrane activator and CAML interactor haploinsufficiency at later stages of B-cell development.

PMID 17392798 2007 Reexamining the role of TACI coding variants in common variable immunodeficiency and selective IgA deficiency.

PMID 20156508 2010 Phenotypic and clinical heterogeneity associated with monoallelic TNFRSF13B-A181E mutations in common variable immunodeficiency.

PMID 19605846 2009 The murine equivalent of the A181E TACI mutation associated with common variable immunodeficiency severely impairs B-cell function.

rs34557412 in TNFRSF13B gene and Immunoglobulin a deficiency 2 PMID 16007086 2005 TACI is mutant in common variable immunodeficiency and IgA deficiency.

PMID 18981294 2009 Relevance of biallelic versus monoallelic TNFRSF13B mutations in distinguishing disease-causing from risk-increasing TNFRSF13B variants in antibody deficiency syndromes.

rs34557412 in TNFRSF13B gene and Lymphocyte Count measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs4561508 in TNFRSF13B gene and Mean Corpuscular Volume (result) PMID 23303382 2013 Genome-wide association study of serum albumin:globulin ratio in Korean populations.

rs74998556 in TNFRSF13B gene and Monoclonal Gammopathy of Undetermined Significance PMID 30737484 2019 Genome-wide association study of monoclonal gammopathy of unknown significance (MGUS): comparison with multiple myeloma.

rs34557412 in TNFRSF13B gene and Monocyte count procedure PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs34557412 in TNFRSF13B gene and Monocyte count result PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs34562254 in TNFRSF13B gene and Multiple Myeloma PMID 27363682 2016 Genome-wide association study identifies multiple susceptibility loci for multiple myeloma.

PMID 23955597 2013 Common variation at 3q26.2, 6p21.33, 17p11.2 and 22q13.1 influences multiple myeloma risk.

rs74998556 in TNFRSF13B gene and Paraproteinemias PMID 30737484 2019 Genome-wide association study of monoclonal gammopathy of unknown significance (MGUS): comparison with multiple myeloma.

rs34557412 in TNFRSF13B gene and Platelet Count measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs4273077 in TNFRSF13B gene and Protein measurement PMID 20139978 2010 Genome-wide association study of hematological and biochemical traits in a Japanese population.

PMID 22558069 2012 Association of common variants in TNFRSF13B, TNFSF13, and ANXA3 with serum levels of non-albumin protein and immunoglobulin isotypes in Japanese.

rs11654088 in TNFRSF13B gene and Serum albumin measurement PMID 22558069 2012 Association of common variants in TNFRSF13B, TNFSF13, and ANXA3 with serum levels of non-albumin protein and immunoglobulin isotypes in Japanese.

PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs4561508 in TNFRSF13B gene and Serum total protein measurement PMID 23022100 2012 Discovery and fine mapping of serum protein loci through transethnic meta-analysis.

rs34562254 in TNFRSF13B gene and Sodium measurement PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.