TNFRSF13B
entrez
23495
canonical
uniprot
O14836
canonical
ensembl
ENSG00000240505
resolver
ensp
ENSP00000261652
resolver
genesymbol
TNFRSF13B
resolver
genesymbol_syn
TACI
resolver
hgnc
HGNC:18153
resolver
uniprot
B2R8B0
resolver
uniprot
B7Z6V8
resolver
uniprot
Q32LX4
resolver
uniprot
Q7Z6F5
resolver
uniprot_entry
TR13B_HUMAN
resolver
uniprot_sec
B2R8B0
resolver
uniprot_sec
B7Z6V8
resolver
uniprot_sec
Q32LX4
resolver
uniprot_sec
Q7Z6F5
resolver
amino_acid_sequence
MSGLGRSRRGGRSRVDQEERFPQGLWTGVAMRSCPEEQYWDPLLGTCMSCKTICNHQSQRTCAAFCRSLSCRKEQGKFYDHLLRDCISCASICGQHPKQCAYFCENKLRSPVNLPPELRRQRSGEVENNSDNSGRYQGLEHRGSEASPALPGLKLSADQVALVYSTLGLCLCAVLCCFLVAVACFLKKRGDPCSCQPRSRPRQSPAKSSQDHAMEAGSPVSTSPEPVETCSFCFPECRAPTQESAVTPGTPDPTCAGRWGCHTRTTVLQPCPHIPDSGLGIVCVPAQEGGPGA
uniprot
proteins
disease_involvement
DISEASE: Immunodeficiency, common variable, 2 (CVID2) [MIM:240500]: A primary immunodeficiency characterized by antibody deficiency, hypogammaglobulinemia, recurrent bacterial infections and an inability to mount an antibody response to antigen. The defect results from a failure of B-cell differentiation and impaired secretion of immunoglobulins; the numbers of circulating B-cells is usually in the normal range, but can be low. {ECO:0000269|PubMed:16007086}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Immunoglobulin A deficiency 2 (IGAD2) [MIM:609529]: Selective deficiency of immunoglobulin A (IGAD) is the most common form of primary immunodeficiency, with an incidence of approximately 1 in 600 individuals in the western world. Individuals with symptomatic IGAD often have deficiency of IgG subclasses or decreased antibody response to carbohydrate antigens such as pneumococcal polysaccharide vaccine. Individuals with IGAD also suffer from recurrent sinopulmonary and gastrointestinal infections and have an increased incidence of autoimmune disorders and of lymphoid and non-lymphoid malignancies. In vitro studies have suggested that some individuals with IGAD have impaired isotype class switching to IgA and others may have a post-switch defect. IGAD and CVID have been known to coexist in families. Some individuals initially present with IGAD1 and then develop CVID. These observations suggest that some cases of IGAD and CVID may have a common etiology. {ECO:0000269|PubMed:16007086}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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-cell function and the regulation of humoral immunity. {ECO:0000269|PubMed:10956646, ECO:0000269|PubMed:10973284}.
uniprot
proteins
mass_dalton
31816
uniprot
proteins
pubmed
10880535
uniprot
proteins
pubmed
10956646
uniprot
proteins
pubmed
10973284
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15542592
uniprot
proteins
pubmed
16007086
uniprot
proteins
pubmed
21248752
uniprot
proteins
pubmed
9311921
uniprot
proteins
sequence_length
293
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane; Single-pass type III membrane protein.
uniprot
proteins
transmembrane_region
TRANSMEM 166..186; /note="Helical; Signal-anchor for type III membrane protein"; /evidence="ECO:0000255
uniprot
proteins