Human Gene TNFRSF13C (ENST00000291232.5) from GENCODE V44
Description: Homo sapiens TNF receptor superfamily member 13C (TNFRSF13C), mRNA. (from RefSeq NM_052945) RefSeq Summary (NM_052945): B cell-activating factor (BAFF) enhances B-cell survival in vitro and is a regulator of the peripheral B-cell population. Overexpression of Baff in mice results in mature B-cell hyperplasia and symptoms of systemic lupus erythematosus (SLE). Also, some SLE patients have increased levels of BAFF in serum. Therefore, it has been proposed that abnormally high levels of BAFF may contribute to the pathogenesis of autoimmune diseases by enhancing the survival of autoreactive B cells. The protein encoded by this gene is a receptor for BAFF and is a type III transmembrane protein containing a single extracellular cysteine-rich domain. It is thought that this receptor is the principal receptor required for BAFF-mediated mature B-cell survival. [provided by RefSeq, Jul 2008]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Gencode Transcript: ENST00000291232.5 Gencode Gene: ENSG00000159958.7 Transcript (Including UTRs) Position: hg38 chr22:41,922,032-41,926,806 Size: 4,775 Total Exon Count: 3 Strand: - Coding Region Position: hg38 chr22:41,925,367-41,926,773 Size: 1,407 Coding Exon Count: 3
ID:TR13C_HUMAN DESCRIPTION: RecName: Full=Tumor necrosis factor receptor superfamily member 13C; AltName: Full=B-cell-activating factor receptor; AltName: Full=BAFF receptor; Short=BAFF-R; AltName: Full=BLyS receptor 3; AltName: CD_antigen=CD268; FUNCTION: B-cell receptor specific for TNFSF13B/TALL1/BAFF/BLyS. Promotes the survival of mature B-cells and the B-cell response. SUBCELLULAR LOCATION: Membrane; Single-pass type III membrane protein (Probable). TISSUE SPECIFICITY: Highly expressed in spleen and lymph node, and in resting B-cells. Detected at lower levels in activated B-cells, resting CD4+ T-cells, in thymus and peripheral blood leukocytes. DISEASE: Defects in TNFRSF13C are the cause of immunodeficiency common variable type 4 (CVID4) [MIM:613494]; also called antibody deficiency due to BAFFR defect. CVID4 is 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. SIMILARITY: Contains 1 TNFR-Cys repeat. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TNFRSF13C";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q96RJ3
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Biological Process: GO:0001782 B cell homeostasis GO:0002250 adaptive immune response GO:0002376 immune system process GO:0002636 positive regulation of germinal center formation GO:0030890 positive regulation of B cell proliferation GO:0031295 T cell costimulation GO:0031296 B cell costimulation GO:0033209 tumor necrosis factor-mediated signaling pathway GO:0042102 positive regulation of T cell proliferation GO:0045078 positive regulation of interferon-gamma biosynthetic process GO:0050776 regulation of immune response
BC156502 - Synthetic construct Homo sapiens clone IMAGE:100063133, MGC:190700 transcription factor 20 (AR1) (TCF20) mRNA, encodes complete protein. AK128410 - Homo sapiens cDNA FLJ46553 fis, clone THYMU3038879. JD228793 - Sequence 209817 from Patent EP1572962. JD275874 - Sequence 256898 from Patent EP1572962. JD419739 - Sequence 400763 from Patent EP1572962. JD188440 - Sequence 169464 from Patent EP1572962. HZ408431 - JP 2015528002-A/1028: CHIRAL CONTROL. LG051765 - KR 1020150036642-A/1031: CHIRAL CONTROL. HZ480389 - JP 2015535430-A/895: TERMINALLY MODIFIED RNA. HZ790320 - JP 2016504050-A/2065: SIGNAL-SENSOR POLYNUCLEOTIDES FOR THE ALTERATION OF CELLULAR PHENOTYPES. JC513052 - Sequence 3305 from Patent WO2014113089. LF160469 - JP 2016513950-A/535: Oligomers with improved off-target profile. LP951620 - Sequence 126 from Patent WO2017157650. LQ070640 - Sequence 964 from Patent EP2964234. MA644141 - JP 2017113010-A/2065: SIGNAL-SENSOR POLYNUCLEOTIDES FOR THE ALTERATION OF CELLULAR PHENOTYPES. MA732025 - JP 2017140048-A/895: TERMINALLY MODIFIED RNA. JD309075 - Sequence 290099 from Patent EP1572962. JD095170 - Sequence 76194 from Patent EP1572962. JD457273 - Sequence 438297 from Patent EP1572962. JD200211 - Sequence 181235 from Patent EP1572962. JD270485 - Sequence 251509 from Patent EP1572962. JD293173 - Sequence 274197 from Patent EP1572962. JD197523 - Sequence 178547 from Patent EP1572962. JD318206 - Sequence 299230 from Patent EP1572962. JD330992 - Sequence 312016 from Patent EP1572962. JD330993 - Sequence 312017 from Patent EP1572962. JD409402 - Sequence 390426 from Patent EP1572962. JD242704 - Sequence 223728 from Patent EP1572962. JD123177 - Sequence 104201 from Patent EP1572962. JD514082 - Sequence 495106 from Patent EP1572962. JD151010 - Sequence 132034 from Patent EP1572962. JD139546 - Sequence 120570 from Patent EP1572962. JD140625 - Sequence 121649 from Patent EP1572962. JD198435 - Sequence 179459 from Patent EP1572962. JD523604 - Sequence 504628 from Patent EP1572962. JD153215 - Sequence 134239 from Patent EP1572962. AF373846 - Homo sapiens BAFF receptor mRNA, complete cds. AX772914 - Sequence 1 from Patent WO03045422. AX800072 - Sequence 1 from Patent WO03055509. JD263878 - Sequence 244902 from Patent EP1572962. JD162860 - Sequence 143884 from Patent EP1572962. JD389220 - Sequence 370244 from Patent EP1572962. JD450980 - Sequence 432004 from Patent EP1572962. JD338393 - Sequence 319417 from Patent EP1572962. BC105123 - Homo sapiens tumor necrosis factor receptor superfamily, member 13C, mRNA (cDNA clone MGC:132783 IMAGE:8144126), complete cds. BC112030 - Homo sapiens tumor necrosis factor receptor superfamily, member 13C, mRNA (cDNA clone MGC:138235 IMAGE:8327498), complete cds. JD455584 - Sequence 436608 from Patent EP1572962. JD452832 - Sequence 433856 from Patent EP1572962. JD458903 - Sequence 439927 from Patent EP1572962. BC111585 - Synthetic construct Homo sapiens clone IMAGE:40080564, MGC:133427 TNFRSF13C protein (TNFRSF13C) mRNA, encodes complete protein. AB590047 - Synthetic construct DNA, clone: pFN21AB7182, Homo sapiens TNFRSF13C gene for tumor necrosis factor receptor superfamily, member 13C, without stop codon, in Flexi system. MA801194 - JP 2018183181-A/2065: SIGNAL-SENSOR POLYNUCLEOTIDES FOR THE ALTERATION OF CELLULAR PHENOTYPES. MP114335 - Sequence 44 from Patent WO2019053235. MP114324 - Sequence 33 from Patent WO2019053235. MP168066 - Sequence 73 from Patent EP3469101. MB408318 - WO 2019163900-A/25: Method of analysis and diagnose using RNA modification. MB481493 - JP 2019528758-A/73: Methods And Compositions For Prostate Cancer Diagnosis And Treatment.
Biochemical and Signaling Pathways
KEGG - Kyoto Encyclopedia of Genes and Genomes hsa04060 - Cytokine-cytokine receptor interaction hsa04672 - Intestinal immune network for IgA production hsa05340 - Primary immunodeficiency
BioCarta from NCI Cancer Genome Anatomy Project h_tall1Pathway - TACI and BCMA stimulation of B cell immune responses.
Reactome (by CSHL, EBI, and GO)
Protein Q96RJ3 (Reactome details) participates in the following event(s):