TNFRSF17 (tumor necrosis factor receptor superfamily, member 17)
2014-10-01 Abigail Gillespie , Eric Sanchez , George Tang , Haiming Chen , James Berenson AffiliationInstitute for Myeloma & Bone Cancer Research, 9201 W. Sunset Blvd., Ste. 300, West Hollywood, CA 90069, USA
Identity
HGNC
LOCATION
16p13.13
LOCUSID
ALIAS
BCM,BCMA,CD269,TNFRSF13A
FUSION GENES
Abstract
B Cell Maturation Antigen (BCMA) is a transmembrane signaling protein preferentially expressed on plasma cells. Its ligands include B-Cell Activating Factor (BAFF) and A Proliferation Inducing Ligand (APRIL). BCMA is involved in JNK and NF-kB activation pathways that induce B-cell development and autoimmune responses. BCMA has been implicated in autoimmune disorders as well as B-lymphocyte malignancies.
DNA/RNA
Description
Spans 3.8 kb; 3 exons, 2 introns.
Transcription
961 nt mRNA.
Proteins
Description
184 aa; a glycoprotein with a single transmembrane domain; N-terminally glycosylated at asparagine 42 regulates its function (Huang et al., 2013). BCMA is a signaling protein that activates the NF-kB. BCMA contains one cysteine rich domain and a DXL motif, comprised of (Phe/Tyr/Trp)-Asp-Xaa-Leu-(Val/Thr)-(Arg/Gly), to facilitate ligand binding with BAFF or APRIL (Hymowitz et al., 2005).
Expression
Preferentially expressed in lymph node tissue, B lymphoblast, NK cells, and dendritic cells.
Localisation
Plasma membrane.
Function
BCMA mediates the development and survival of B cell lymphocytes that maintain humoral immunity.
Homology
TNFRSF17 is conserved in P. Troglodytes, M. mulatta, C. lupus, B. taurus, M. musculus, and R. norvegicus.
Mutations
Note
22 single nucleotide polymorphisms (SNP) have been reported.
Implicated in
Entity name
Disease
Multiple myeloma is a fatal malignancy that involves the abnormal proliferation and accumulation of plasma cells characterized by their resistance to apoptosis. Sanchez et al. not only showed increased expression of BCMA in patients plasma cells, but that patients with multiple myeloma have a high concentration of BCMA protein circulating in their blood. Furthermore, the group found that higher levels of circulating BCMA are associated with a worse prognosis.
Prognosis
Poor.
Entity name
Acute myelomonocytic leukemia (AMML) with eosinophilia
Disease
AMML is a malignancy involving myeloid precursors of the bone marrow. Although this condition is rare, it is a common type of pediatric acute myeloid leukemia. In about 50% of the cases of AMML, increased numbers of abnormal eosinophils are observed in the bone marrow (eosinophilia). AMML patients with eosinophilia who carry a pericentric inversion at 16(p13q22) tend to have a better prognosis.
Prognosis
61% 5 year survival rate; AMML patients who carry the pericentric inversion have a higher rate of complete remission than those without the inversion (Chang et al., 2006).
Cytogenetics
Pericentric inversion at 16(p13q22) in 3-5% of AMML cases.
Entity name
T cell lymphoma
Note
(4;16)(q26;p13.1) chromosome translocation, which led to the discovery of BCMA, was noted by Laâbi et al. in a single case of T cell lymphoma. This translocation resulted in a IL-2/BCMA composite gene.
Partial R-Banded karyotype. The karyotype shows a (4;16) (q26;p13.1) chromosomal translocation that led to the identification of BCMA by Laâbi et al. (Laâbi et al., 1992).
Entity name
Acute monocytic leukemia
Note
t(8;16)(p11;p13) translocation has been noted in cases of acute monocytic leukemia (Laâbi et al., 1992).
Entity name
Note
Translocation (16;18)(p13;q21.3) has been reported in follicular lymphoma (Mahmoodi et al., 2004).
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 17214400 | 2006 | Acute myelomonocytic leukemia with abnormal eosinophils: a case report with multi-modality diagnostic work-up. | Chang ST et al |
| 23776238 | 2013 | B-cell maturation antigen is modified by a single N-glycan chain that modulates ligand binding and surface retention. | Huang HW et al |
| 15542592 | 2005 | Structures of APRIL-receptor complexes: like BCMA, TACI employs only a single cysteine-rich domain for high affinity ligand binding. | Hymowitz SG et al |
| 1396583 | 1992 | A new gene, BCM, on chromosome 16 is fused to the interleukin 2 gene by a t(4;16)(q26;p13) translocation in a malignant T cell lymphoma. | Laâbi Y et al |
| 15474153 | 2004 | Translocation (16;18)(p13;q21.3) in follicular lymphoma. | Mahmoodi M et al |
Other Information
Locus ID:
NCBI: 608
MIM: 109545
HGNC: 11913
Ensembl: ENSG00000048462
Variants:
dbSNP: 608
ClinVar: 608
TCGA: ENSG00000048462
COSMIC: TNFRSF17
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000048462 | ENST00000053243 | Q02223 |
| ENSG00000048462 | ENST00000396495 | Q02223 |
| ENSG00000048462 | ENST00000562385 | H3BMB5 |
Expression (GTEx)
Pathways
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38649856 | 2024 | 25-hydroxycholesterol promotes proliferation and metastasis of lung adenocarcinoma cells by regulating ERβ/TNFRSF17 axis. | 1 |
| 38783333 | 2024 | BCMA/CD47-directed universal CAR-T cells exhibit excellent antitumor activity in multiple myeloma. | 0 |
| 38649856 | 2024 | 25-hydroxycholesterol promotes proliferation and metastasis of lung adenocarcinoma cells by regulating ERβ/TNFRSF17 axis. | 1 |
| 38783333 | 2024 | BCMA/CD47-directed universal CAR-T cells exhibit excellent antitumor activity in multiple myeloma. | 0 |
| 37188125 | 2023 | Soluble B-cell maturation antigen as a monitoring marker for multiple myeloma. | 2 |
| 37188125 | 2023 | Soluble B-cell maturation antigen as a monitoring marker for multiple myeloma. | 2 |
| 35017485 | 2022 | A BAFF ligand-based CAR-T cell targeting three receptors and multiple B cell cancers. | 24 |
| 35525334 | 2022 | Serum B-Cell maturation antigen is an independent prognostic marker in previously untreated chronic lymphocytic leukemia. | 1 |
| 36346307 | 2022 | Expression levels and patterns of B-cell maturation antigen in newly diagnosed and relapsed multiple myeloma patients from Indian subcontinent. | 0 |
| 35017485 | 2022 | A BAFF ligand-based CAR-T cell targeting three receptors and multiple B cell cancers. | 24 |
| 35525334 | 2022 | Serum B-Cell maturation antigen is an independent prognostic marker in previously untreated chronic lymphocytic leukemia. | 1 |
| 36346307 | 2022 | Expression levels and patterns of B-cell maturation antigen in newly diagnosed and relapsed multiple myeloma patients from Indian subcontinent. | 0 |
| 32321191 | 2021 | Estimating a normal reference range for serum B-cell maturation antigen levels for multiple myeloma patients. | 2 |
| 32441777 | 2021 | Normalization of serum B-cell maturation antigen levels predicts overall survival among multiple myeloma patients starting treatment. | 0 |
| 33216972 | 2021 | Focus on monoclonal antibodies targeting B-cell maturation antigen (BCMA) in multiple myeloma: update 2021. | 10 |
Citation
Abigail Gillespie ; Eric Sanchez ; George Tang ; Haiming Chen ; James Berenson
TNFRSF17 (tumor necrosis factor receptor superfamily, member 17)
Atlas Genet Cytogenet Oncol Haematol. 2014-10-01
Online version: http://atlasgeneticsoncology.org/gene/42616/tnfrsf17-(tumor-necrosis-factor-receptor-superfamily-member-17)
