TNFRSF13B (TNF receptor superfamily member 13B)
|
Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
23495 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
TNF receptor superfamily member 13B |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
TNFRSF13B |
SynonymsGene synonyms aliases
|
CD267, CVID, CVID2, IGAD2, RYZN, TACI, TNFRSF14B |
ChromosomeChromosome number
|
17 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
17p11.2 |
SummarySummary 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, |
SNPsSNP 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 |
rs72553882 |
G>C,T |
Pathogenic |
Stop gained, coding sequence variant |
rs72553883 |
G>A,T |
Likely-pathogenic, conflicting-interpretations-of-pathogenicity, likely-benign, pathogenic |
Missense variant, coding sequence variant |
rs72553885 |
G>A,C,T |
Pathogenic, uncertain-significance |
Synonymous variant, stop gained, missense variant, coding sequence variant |
rs104894649 |
C>T |
Conflicting-interpretations-of-pathogenicity, likely-benign, pathogenic |
Missense variant, coding sequence variant |
rs104894650 |
G>A,C,T |
Pathogenic |
Stop gained, missense variant, coding sequence variant |
rs121908379 |
GG>CC,TT |
Pathogenic |
Coding sequence variant, stop gained, missense variant |
rs143027621 |
A>C |
Pathogenic, uncertain-significance |
Coding sequence variant, missense variant |
rs150101848 |
C>A,G,T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
rs769165409 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1016142312 |
C>A,T |
Pathogenic |
Splice donor variant |
rs1265262160 |
CTTGC>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1303637368 |
->TC |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1555550717 |
G>- |
Likely-pathogenic, pathogenic |
Frameshift variant, coding sequence variant |
|
miRNAmiRNA information provided by mirtarbase database.
|
|
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
|
|
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
|
|
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 |
|
Sequence |
|
Sequence length |
293 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
|
|
Associated diseases
|
Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Anemia |
Anemia, Hemolytic |
rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505 |
|
Bronchiectasis |
Bronchiectasis |
rs121908758, rs121908811, rs76649725, rs267606722, rs121909008, rs387906360, rs387906361, rs80034486, rs74767530, rs121908776, rs121909012, rs77646904, rs121908754, rs121909015, rs121909016, rs387906365, rs80055610, rs75528968, rs121908748, rs77932196, rs121909026, rs121908751, rs121908750, rs746418935, rs79282516, rs77409459, rs121909031, rs76554633, rs75115087, rs79633941, rs387906375, rs75389940, rs121909043, rs387906379, rs121908784, rs121909047, rs137852709, rs1596894031, rs137852710, rs61759860, rs121908805, rs193922501, rs193922503, rs193922504, rs1554389296, rs121908812, rs74467662, rs193922510, rs193922514, rs121908797, rs193922515, rs76151804, rs78984783, rs77035409, rs193922532, rs121908767, rs77188391, rs121908789, rs121908779, rs36210737, rs121908763, rs121908794, rs121908796, rs121908772, rs79031340, rs397508137, rs397508139, rs121908774, rs397508150, rs397508152, rs397508158, rs397508165, rs397508168, rs397508173, rs397508192, rs397508196, rs397508200, rs397508205, rs397508208, rs397508211, rs397508222, rs397508225, rs397508231, rs397508243, rs397508251, rs397508261, rs397508272, rs397508273, rs397508276, rs397508295, rs397508296, rs397508298, rs397508300, rs77284892, rs397508310, rs201978662, rs201124247, rs121908780, rs397508331, rs397508333, rs397508339, rs397508341, rs121908760, rs397508350, rs397508353, rs121908810, rs397508360, rs374946172, rs145449046, rs397508377, rs397508379, rs397508380, rs397508386, rs397508387, rs397508393, rs397508399, rs397508400, rs397508412, rs397508413, rs121909034, rs149790377, rs121908792, rs397508426, rs397508431, rs397508441, rs397508451, rs397508461, rs397508479, rs397508482, rs397508496, rs397508498, rs397508506, rs397508510, rs142394380, rs121909036, rs139304906, rs121908798, rs397508532, rs397508535, rs146521846, rs139729994, rs397508570, rs397508572, rs77834169, rs78655421, rs121908765, rs397508595, rs397508596, rs397508600, rs397508604, rs397508609, rs397508616, rs397508620, rs397508624, rs121908808, rs397508635, rs397508636, rs397508637, rs397508658, rs397508673, rs397508680, rs397508686, rs76371115, rs397508702, rs397508706, rs397508712, rs397508715, rs397508721, rs397508732, rs397508734, rs397508740, rs121908771, rs397508761, rs78440224, rs121908793, rs397508767, rs121908803, rs397508777, rs397508784, rs397508791, rs397508796, rs397508799, rs397508805, rs397508808, rs397508809, rs397508824, rs786204693, rs755416052, rs397508263, rs1057516619, rs397508176, rs1057516415, rs1057516970, rs754392413, rs1057516457, rs397508709, rs1060503164, rs775663783, rs397508294, rs1554380497, rs397508163, rs121908785, rs1235397597, rs397508405, rs1554392800, rs375661578, rs397508693, rs766063304, rs141482808, rs1290078234, rs756219310, rs1554390958, rs1555112332, rs750559671, rs533959068, rs1554389062, rs1554389486, rs1330431481, rs193922730, rs779177972, rs1562928997, rs1562908997, rs1562876459, rs1584785196, rs1584786454, rs1299250440, rs1584837090, rs1584764596, rs1584812425 |
|
Common variable immunodeficiency |
Common Variable Immunodeficiency, Acquired Hypogammaglobulinemia, IMMUNODEFICIENCY, COMMON VARIABLE, 2 |
rs72553883, rs121908379, rs104894650, rs587776775, rs398122863, rs398122864, rs397514332, rs397514331, rs727502786, rs727502787, rs72553882, rs869320688, rs869320689, rs869320754, rs773694113, rs1553319504, rs201017642, rs1555550717, rs1558192723, rs1030733127, rs749636258, rs185689791, rs1559035937, rs1565214594, rs1560679469, rs1560711146, rs1569376229, rs1578790573, rs939459600, rs1572952530, rs1572950925, rs772481080, rs369363360, rs72553885, rs72553879, rs1265262160, rs1303637368, rs757598952, rs1016142312, rs1578771120, rs1578771197, rs1578793298, rs1578793312, rs1578809101, rs1578811073, rs1590715754, rs144718007, rs759649059, rs1723945421, rs2061279365 |
29114388, 16007086, 23237420, 24051380, 16007086, 26100089, 17392797, 16007087, 20156508, 17392798, 21419480, 20889194, 26046366, 27123465, 21458042, 18981294, 19605846, 29114388, 19779048, 22983507, 22884984, 22697072 |
Gastrointestinal stromal tumor |
Gastrointestinal Stromal Tumors |
rs587776653, rs74315368, rs74315369, rs587776793, rs587776794, rs587776795, rs606231209, rs121908589, rs121913685, rs121913680, rs794726675, rs587776804, rs121913517, rs121913234, rs121913512, rs267607032, rs387906780, rs201286421, rs587778661, rs587781270, rs587782243, rs74315370, rs587782703, rs786203457, rs764575966, rs786203251, rs587782604, rs200245469, rs397516836, rs786202732, rs786201161, rs786201063, rs751000085, rs869025568, rs876660642, rs876658713, rs151170408, rs878854632, rs752360961, rs121913235, rs121913521, rs121913513, rs1057519708, rs1057519710, rs121913514, rs1057519713, rs778582853, rs1060503757, rs1060502521, rs1060502543, rs898854295, rs981049067, rs916516745, rs1553887262, rs1057520032, rs1553887960, rs775143272, rs1560395607, rs1560418178, rs751904543, rs1560420761, rs1560417385, rs1560417396, rs1560417427, rs1560417438, rs1560417535, rs1560417642, rs1560417666, rs1560417673, rs1577992594, rs1577995761, rs1578003055, rs1301704156, rs1734957331 |
|
Immunoglobulin a deficiency |
Immunoglobulin a deficiency 2, NON RARE IN EUROPE: Immunoglobulin A deficiency |
rs72553883, rs72553882, rs144718007 |
18981294, 29114388, 16007086 |
Lymphoma |
Lymphoma |
rs11540652, rs1592119138, rs1592123162, rs1599367044 |
|
Multiple myeloma |
Multiple Myeloma |
rs11540652, rs78311289, rs121913482, rs397507340, rs121913343, rs121913240, rs121913529, rs730882018, rs1057517992, rs121913527, rs756183569, rs746646631, rs1574706907, rs372078034, rs745380962, rs751524927, rs1575079076, rs1575446356, rs1478603808, rs1578264146, rs1578673280, rs1579484570, rs1579491104, rs1171390403, rs1582867955, rs764264135, rs951047896, rs890521687, rs1581495906, rs1587941402, rs1003155450, rs1588299621, rs1591100766, rs1591693095, rs1029296641, rs1593107841, rs1208575764, rs1593835248, rs1594406727, rs1594966387, rs1595889508, rs1159294530, rs1597073318, rs1135402871, rs1599413207, rs1418268495, rs1212577459, rs1600394490, rs1455074519, rs1603113792, rs1603415028, rs1602247047, rs1603452612 |
27363682, 23955597 |
Vasculitis |
Vasculitis |
rs376785840, rs587777240, rs200930463, rs587777241, rs77563738, rs202134424, rs148936893, rs587777242, rs775440641, rs770689762, rs45511697, rs139750129, rs756881285, rs747774101, rs1568966771, rs766602945, rs1601419986, rs1489114116, rs754904956, rs755007390, rs368615054 |
|
|
Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Brachycephaly |
Brachycephaly |
|
|
Bronchitis |
Recurrent bronchitis |
|
|
Conjunctivitis |
Conjunctivitis |
|
|
Immune thrombocytopenic purpura |
Immune thrombocytopenic purpura |
|
|
Immunoglobulin deficiency |
Immunoglobulin Deficiency, Late-Onset |
|
|
Immunologic deficiency syndromes |
Immunologic Deficiency Syndromes |
|
|
Imperforate anus |
Anus, Imperforate |
|
|
Lymphopenia |
Lymphopenia |
|
|
Monoclonal gammapathies |
Monoclonal Gammopathy of Undetermined Significance |
|
30737484 |
Neoplasms |
Neoplasms |
|
|
Otitis media |
Chronic otitis media, Recurrent otitis media |
rs601338, rs1047781, rs1800028 |
|
Paraproteinemia |
Paraproteinemias |
|
30737484 |
Selective immunoglobulin a deficiency |
Selective immunoglobulin A deficiency |
|
29114388 |
Sinusitis |
Recurrent sinusitis |
|
|
|
|
|