Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23495
Gene name Gene Name - the full gene name approved by the HGNC.
TNF receptor superfamily member 13B
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TNFRSF13B
Synonyms (NCBI Gene) Gene synonyms aliases
CD267, CVID, CVID2, IGAD2, RYZN, TACI, TNFRSF14B
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CVID2, IGAD2
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17p11.2
Summary Summary of gene provided in NCBI Entrez Gene.
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,
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs34557412 A>G Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign, pathogenic, likely-pathogenic, risk-factor Missense variant, coding sequence variant
rs72553875 ->T Pathogenic-likely-pathogenic, pathogenic, uncertain-significance Frameshift variant, coding sequence variant
rs72553876 T>C Likely-pathogenic, uncertain-significance Missense variant, coding sequence variant
rs72553877 A>T Conflicting-interpretations-of-pathogenicity, uncertain-significance Missense variant, coding sequence variant
rs72553879 C>T Likely-pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT037200 hsa-miR-877-3p CLASH 23622248
MIRT625335 hsa-miR-6890-3p HITS-CLIP 23824327
MIRT625334 hsa-miR-181a-2-3p HITS-CLIP 23824327
MIRT625333 hsa-miR-1273g-3p HITS-CLIP 23824327
MIRT661879 hsa-miR-6742-3p HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001782 Process B cell homeostasis IBA 21873635
GO:0002244 Process Hematopoietic progenitor cell differentiation IBA 21873635
GO:0002250 Process Adaptive immune response IEA
GO:0005515 Function Protein binding IPI 10801128, 10880535, 10956646, 20676093, 25416956
GO:0005886 Component Plasma membrane TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
604907 18153 ENSG00000240505
Protein
UniProt ID O14836
Protein name Tumor necrosis factor receptor superfamily member 13B (Transmembrane activator and CAML interactor) (CD antigen CD267)
Protein function Receptor for TNFSF13/APRIL and TNFSF13B/TALL1/BAFF/BLYS that binds both ligands with similar high affinity. Mediates calcineurin-dependent activation of NF-AT, as well as activation of NF-kappa-B and AP-1. Involved in the stimulation of B- and T
PDB 1XU1 , 1XUT
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF09305 TACI-CRD2 32 68 TACI, cysteine-rich domain Domain
PF09305 TACI-CRD2 69 107 TACI, cysteine-rich domain Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in spleen, thymus, small intestine and peripheral blood leukocytes. Expressed in resting B-cells and activated T-cells, but not in resting T-cells.
Sequence
MSGLGRSRRGGRSRVDQEERFPQGLWTGVAMRSCPEEQYWDPLLGTCMSCKTICNHQSQR
TCAAFCRS
LSCRKEQGKFYDHLLRDCISCASICGQHPKQCAYFCENKLRSPVNLPPELRR
QRSGEVENNSDNSGRYQGLEHRGSEASPALPGLKLSADQVALVYSTLGLCLCAVLCCFLV
AVACFLKKRGDPCSCQPRSRPRQSPAKSSQDHAMEAGSPVSTSPEPVETCSFCFPECRAP
TQESAVTPGTPDPTCAGRWGCHTRTTVLQPCPHIPDSGLGIVCVPAQEGGPGA
Sequence length 293
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Cytokine-cytokine receptor interaction
Intestinal immune network for IgA production
Primary immunodeficiency
  TNFs bind their physiological receptors
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Anemia Anemia, Hemolytic rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966
View all (89 more)
Bronchiectasis Bronchiectasis rs121908758, rs121908811, rs76649725, rs267606722, rs121909008, rs387906360, rs387906361, rs80034486, rs74767530, rs121908776, rs121909012, rs77646904, rs121908754, rs121909015, rs121909016
View all (214 more)
Common variable immunodeficiency Common Variable Immunodeficiency, Acquired Hypogammaglobulinemia, IMMUNODEFICIENCY, COMMON VARIABLE, 2, Common variable immunodeficiency rs72553883, rs121908379, rs104894650, rs587776775, rs398122863, rs398122864, rs397514332, rs397514331, rs727502786, rs727502787, rs72553882, rs869320688, rs869320689, rs869320754, rs773694113
View all (35 more)
29114388, 16007086, 23237420, 24051380, 26100089, 17392797, 16007087, 20156508, 17392798, 21419480, 20889194, 26046366, 27123465, 21458042, 18981294
View all (5 more)
Gastrointestinal stromal tumor Gastrointestinal Stromal Tumors rs587776653, rs74315368, rs74315369, rs587776793, rs587776794, rs587776795, rs606231209, rs121908589, rs121913685, rs121913680, rs794726675, rs587776804, rs121913517, rs121913234, rs121913512
View all (59 more)
Unknown
Disease term Disease name Evidence References Source
Otitis media Chronic otitis media, Recurrent otitis media ClinVar
Systemic lupus erythematosus Systemic lupus erythematosus GWAS
Monoclonal Gammapathies Monoclonal Gammapathies GWAS
Associations from Text Mining
Disease Name Relationship Type References
Agammaglobulinemia Associate 18981294, 22697072, 23225259
Anemia Hemolytic Autoimmune Associate 33838017
Anti N Methyl D Aspartate Receptor Encephalitis Stimulate 38063052
Arthritis Rheumatoid Associate 33483588
Autoimmune Diseases Associate 17556024, 22697072, 23956760, 24051372, 34441032, 34686572
Autoimmune Diseases of the Nervous System Associate 18981294, 24051380
Carcinoma Ovarian Epithelial Associate 24740199
Chronic Pain Associate 28221285
Combined Cellular And Humoral Immune Defects With Granulomas Associate 21514638
Common Variable Immunodeficiency Associate 17556024, 17983875, 18254984, 18981294, 19210517, 19775471, 20652909, 21514638, 21815909, 21905497, 22697072, 23237420, 23956760, 24051372, 24051380
View all (11 more)