TNFRSF17

Summary

TNFRSF17 (TNF receptor superfamily member 17, HGNC:11913) is a protein-coding gene on chromosome 16p13.13, encoding Tumor necrosis factor receptor superfamily member 17 (Q02223). Receptor for TNFSF13B/BLyS/BAFF and TNFSF13/APRIL.

The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is preferentially expressed in mature B lymphocytes, and may be important for B cell development and autoimmune response. This receptor has been shown to specifically bind to the tumor necrosis factor (ligand) superfamily, member 13b (TNFSF13B/TALL-1/BAFF), and to lead to NF-kappaB and MAPK8/JNK activation. This receptor also binds to various TRAF family members, and thus may transduce signals for cell survival and proliferation.

Source: NCBI Gene 608 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 1 total
• Druggable target: yes
• MANE Select transcript: NM_001192

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:11913
Approved symbol	TNFRSF17
Name	TNF receptor superfamily member 17
Location	16p13.13
Locus type	gene with protein product
Status	Approved
Aliases	BCM, CD269, TNFRSF13A
Ensembl gene	ENSG00000048462
Ensembl biotype	protein_coding
OMIM	109545
Entrez	608

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 3 protein_coding

ENST00000053243, ENST00000396495, ENST00000562385

RefSeq mRNA: 1 — MANE Select: NM_001192 NM_001192

CCDS: CCDS10552

Canonical transcript exons

ENST00000053243 — 3 exons

Exon	Start	End
ENSE00000668477	11966195	11966341
ENSE00000829755	11965210	11965454
ENSE00001722330	11967570	11968068

Expression profiles

Bgee: expression breadth ubiquitous, 165 present calls, max score 89.43.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 1.5216 / max 265.0271, expressed in 81 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
152808	0.9621	72
152807	0.2478	43
152809	0.1705	38
152806	0.0736	27
152805	0.0677	23

Top tissues by expression

281 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
rectum	UBERON:0001052	89.43	gold quality
mucosa of transverse colon	UBERON:0004991	87.60	gold quality
jejunal mucosa	UBERON:0000399	86.74	gold quality
mucosa of sigmoid colon	UBERON:0004993	85.95	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	85.44	silver quality
lymph node	UBERON:0000029	85.22	gold quality
epithelium of nasopharynx	UBERON:0001951	83.48	gold quality
nasopharynx	UBERON:0001728	83.47	silver quality
vermiform appendix	UBERON:0001154	82.68	gold quality
spleen	UBERON:0002106	82.34	gold quality
duodenum	UBERON:0002114	82.29	gold quality
caecum	UBERON:0001153	81.58	gold quality
colonic mucosa	UBERON:0000317	79.64	gold quality
bone marrow cell	CL:0002092	78.01	gold quality
tonsil	UBERON:0002372	77.89	gold quality
trabecular bone tissue	UBERON:0002483	76.65	gold quality
pylorus	UBERON:0001166	74.92	gold quality
ileal mucosa	UBERON:0000331	73.71	gold quality
jejunum	UBERON:0002115	72.91	gold quality
bone marrow	UBERON:0002371	72.16	gold quality
small intestine	UBERON:0002108	71.97	gold quality
trachea	UBERON:0003126	71.90	silver quality
leukocyte	CL:0000738	71.84	gold quality
small intestine Peyer’s patch	UBERON:0003454	71.64	gold quality
monocyte	CL:0000576	71.60	gold quality
mononuclear cell	CL:0000842	71.42	gold quality
transverse colon	UBERON:0001157	71.29	gold quality
saliva-secreting gland	UBERON:0001044	70.85	gold quality
minor salivary gland	UBERON:0001830	70.85	gold quality
colonic epithelium	UBERON:0000397	70.22	gold quality

Single-cell (SCXA)

Detected in 12 experiment(s), a significant marker in 12.

Experiment	Marker?	Max mean expression
E-MTAB-6386	yes	572.59
E-CURD-46	yes	498.74
E-MTAB-8410	yes	399.22
E-CURD-88	yes	316.27
E-MTAB-9467	yes	68.75
E-HCAD-4	yes	56.82
E-HCAD-1	yes	56.35
E-CURD-122	yes	41.03
E-HCAD-11	yes	33.13
E-ANND-3	yes	28.77
E-HCAD-9	yes	22.17
E-MTAB-10553	yes	12.14

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): POU2AF1, PRDM1

miRNA regulators (miRDB)

12 targeting TNFRSF17, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-3692-3P	99.98	70.27	2139
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-539-5P	99.93	70.30	2855
HSA-MIR-7154-5P	99.69	70.52	1900
HSA-MIR-5004-5P	99.68	66.63	1294
HSA-MIR-3660	99.68	67.33	1149
HSA-MIR-4526	99.68	67.07	1136
HSA-MIR-4311	99.31	70.47	3041
HSA-MIR-6719-3P	99.29	67.78	1387
HSA-MIR-6529-5P	97.85	66.47	673
HSA-MIR-6730-3P	97.03	67.54	889

Literature-anchored findings (GeneRIF, showing 40)

• Expression of BCMA, TACI, and BAFF-R by multiple myeloma cells support cell growth and survival. (PMID:14512299)
• APRIL.TACI_d2 and APRIL.BCMA complexes together reveal the mechanism by which TACI engages high affinity ligand binding through a single cysteine-rich domain (PMID:15542592)
• BCMA is a target of donor B-cell immunity in patients with myeloma who respond to Donor lymphocyte infusions (PMID:15692072)
• Review. APRIL interactions with BCMA likely govern memory B cell populations. (PMID:16919470)
• Review. Direct BAFF/APRIL signalling in T cells and/or T cell modulation in response to a BAFF-modified B cell compartment may play an important role in inflammation and immunomodulation. (PMID:16931039)
• The BCMA inhibited HRS cell accumulation in vitro and might attenuate HL expansion in vivo. (PMID:16960154)
• BCMA TVs were observed only in some CD19+ cell samples. (PMID:17825416)
• rheumatoid arthritis fibroblast like synoviocytes are stimulated by APRIL and express the APRIL receptor BCMA (PMID:17968879)
• Expression of B cell maturation Ag (BCMA) is also highly regulated and we demonstrate that BCMA expression is only acquired in MB cells and in a manner accompanied by loss of BAFF-R expression. (PMID:18025170)
• we observed APRIL expression, together with TACI and BCMA in gut-associated lymphoid tissue, lamina propria, and in the epithelium of stomach, small and large intestine, and rectum. (PMID:19741596)
• genetic polymorphisms are associated with gastrointestinal disorders (PMID:20016944)
• Signaling through BCMA enhances B cell activation following exposure to TLR9 agonists, and increased expression in SLE may contribute to the production of IgG autoantibodies. (PMID:21250838)
• This is the first study, presenting together the TNFSF members APRIL, BAFF, TWEAK and their receptors in different areas of normal renal tissue and renal cell carcinoma. (PMID:21483105)
• primary leukemia B-cell precursors aberrantly express receptors of the BAFF-system, BAFF-R, BCMA, and TACI (PMID:21687682)
• TNFRSF17 may be a candidate gene associated with the pathogenesis of colon cancer. (PMID:22108903)
• These data advance BCMA as an inflammation-related TNF superfamily member in keratinocytes, of potential importance in the management of inflammatory skin conditions. (PMID:22166983)
• Serum BCMA levels were higher among patients with progressive disease than those with responsive disease. Overall survival was shorter among patients whose serum BCMA levels were above the median. (PMID:22804669)
• the effect of APRIL is mediated via BCMA, which does not activate the classical NF-kappaB pathway, whereas it induces a novel signaling pathway, which involves JNK2 phosphorylation, FOXO3A activation, and GADD45 transcription (PMID:23071284)
• Activation of B cells through BCMA regulates spinal cord injury-induced autoimmunity via a proliferation-inducing ligand (APRIL) and B-cell-activating factor (BAFF). (PMID:23088438)
• The B cell maturation antigen (BCMA) is a tumor necrosis family receptor member that is predominantly expressed on terminally differentiated B cells and, upon binding to its ligands B cell activator of the TNF family and a proliferation inducing ligand. (PMID:23237506)
• Data indicate that B-cell maturation antigen (BCMA) is a suitable target for chimeric antigen receptor (CAR)-expressing T cells, and adoptive transfer of anti-BCMA-CAR-expressing T cells is a promising new strategy for treating multiple myeloma. (PMID:23344265)
• Data indicate that MAGE3, Survivin and B-cell maturation antigen (BCMA) mRNA-pulsed dendritic cells (DCs) are capable of stimulating tumor-associated antigens (TAA)-specific T-cell responses in multiple myeloma (MM) patients. (PMID:23728352)
• B-cell maturation antigen (BCMA), an essential membrane protein for maintaining the survival of plasma cells, was identified as a glycoprotein exhibiting complex-type N-glycans at a single N-glycosylation site, asparagine 42. (PMID:23776238)
• BAFF and APRIL as well as their cognate receptors (BCMA, TACI) correlate with glioma grade. (Meta-analysis) (PMID:24376672)
• Data show significant differences in expression of tumour necrosis factor family (BAFF) receptors BAFF-R, BCMA and TACI in patients with and without anti-Jo-1 or anti-Ro52/anti-Ro60 autoantibodies. (PMID:25301447)
• High BCMA expression is associated with breast cancer. (PMID:25750171)
• elevated serum levels in patients with Behcet’s disease (PMID:25759827)
• Studied expression of B-cell maturation antigen (BCMA) in osteoblasts and the toxic effect of chromium on its expression; found BCMA is involved in osteogenesis of osteoblasts; chromium downregulates expression of BCMA in osteoblasts. (PMID:26011700)
• shedding of BCMA by gamma-secretase controls plasma cells in the bone marrow and yields a potential biomarker for B-cell involvement in human autoimmune diseases (PMID:26065893)
• Decreased BCMA expression on peripheral B cells according to severe disease activity suggests that BCMA plays an important regulating role in B-cell hyperactivity and immune tolerance homeostasis in systemic lupus erythematosus patients (PMID:26424128)
• results suggest that Akt and JNK pathways are involved in the regulation of B-cell maturation antigen (BCMA) (PMID:26914861)
• soluble BCMA sequesters circulating BAFF, thereby preventing it from performing its signaling to stimulate normal B-cell and plasma cell development, resulting in reduced polyclonal antibody levels in multiple myeloma patients. (PMID:26960399)
• New molecular mechanisms of in vivo Multiple Myeloma (MM) growth and immunosuppression critically dependent on BCMA and APRIL in the Bone marrow microenvironment, further supporting targeting this prominent pathway in MM. (PMID:27127303)
• The expression levels of serum BAFF and the three receptors (TACI, BCMA and BAFF-R) in non-Hodgkin lymphoma patients were significantly higher than in healthy controls. (PMID:28028945)
• We have identified a specific serum protein, BCMA, as a novel independent marker for both monitoring and predicting outcomes for MM patients. We have shown that sBCMA is elevated in MM patients, and can be used to follow their disease status, PFS and OS. (PMID:28034989)
• BCMA has other contributors for ligands binding except DxL motif. The affinity of BCMA for APRIL higher than for BAFF may be caused by the segment outside of the conservative DxL motif. Moreover, the exposition of new binding modes of BCMA2 interacting with APRIL may establish the foundation of designing novel drugs in the future (PMID:28260502)
• High BCMA expression is associated with primary central nervous system lymphoma. (PMID:28521029)
• Expression patterns of BAFF and its receptor BCMA differ according to lupus nephritis class. (PMID:29087261)
• these data support the further development of anti-BCMA CAR T cells as a potential treatment for not only multiple myeloma (MM)but also some lymphomas (PMID:29641319)
• To generate long-lasting anti-tumor immunity in patients with MM or other BCMA expressing tumors. (PMID:30872779)

Cross-species orthologs

1 orthologs

Organism	Symbol	Gene ID
mus_musculus	Tnfrsf17	ENSMUSG00000022496

Paralogs (1): TNFRSF13C (ENSG00000159958)

Protein

Protein identifiers

Tumor necrosis factor receptor superfamily member 17 — Q02223 (reviewed: Q02223)

Alternative names: B-cell maturation protein

All UniProt accessions (2): Q02223, H3BMB5

UniProt curated annotations — full annotation on UniProt →

Function. Receptor for TNFSF13B/BLyS/BAFF and TNFSF13/APRIL. Promotes B-cell survival and plays a role in the regulation of humoral immunity. Activates NF-kappa-B and JNK.

Subunit / interactions. Associates with TRAF1, TRAF2, TRAF3, TRAF5 and TRAF6.

Subcellular location. Cell membrane. Endomembrane system.

Tissue specificity. Expressed in mature B-cells, but not in T-cells or monocytes.

Disease relevance. A chromosomal aberration involving TNFRSF17 is found in a form of T-cell acute lymphoblastic leukemia (T-ALL). Translocation t(4;16)(q26;p13) with IL2.

Miscellaneous. Observed only in some CD19+ cell.

Isoforms (2)

UniProt ID	Names	Canonical?
Q02223-1	1	yes
Q02223-2	2, TV4

RefSeq proteins (1): NP_001183* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR015337	BCMA_Tall-1-bd	Domain
IPR022320	TNFR_17	Family
IPR043521	TNFR_13C/17	Family

Pfam: PF09257

UniProt features (25 total): sequence variant 7, strand 3, turn 3, disulfide bond 3, topological domain 2, helix 2, chain 1, transmembrane region 1, repeat 1, site 1, splice variant 1

Structure

Experimental structures (PDB)

11 structures.

PDB	Method	Resolution (Å)
4ZFO	X-RAY DIFFRACTION	1.9
1XU2	X-RAY DIFFRACTION	2.35
8HXQ	X-RAY DIFFRACTION	2.4
1OQD	X-RAY DIFFRACTION	2.6
6J7W	X-RAY DIFFRACTION	2.6
8HXR	X-RAY DIFFRACTION	2.7
8QYA	X-RAY DIFFRACTION	2.72
8QYB	X-RAY DIFFRACTION	3.09
8QY9	X-RAY DIFFRACTION	3.1
9MQO	X-RAY DIFFRACTION	3.18
2KN1	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q02223-F1	65.28	0.17

Antibody-complex structures (SAbDab): 7 — 4ZFO, 6J7W, 8HXQ, 8HXR, 8QY9, 8QYA, 8QYB

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (1): 3–4 (breakpoint for translocation to form il2/tnfrsf17 oncogene)

Disulfide bonds (3): 8–21, 24–37, 28–41

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-5669034	TNFs bind their physiological receptors

MSigDB gene sets: 168 (showing top): REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, GOBP_RESPONSE_TO_PEPTIDE, GCANCTGNY_MYOD_Q6, GOBP_LYMPHOCYTE_HOMEOSTASIS, BROWNE_HCMV_INFECTION_12HR_UP, PUJANA_CHEK2_PCC_NETWORK, SHAFFER_IRF4_TARGETS_IN_PLASMA_CELL_VS_MATURE_B_LYMPHOCYTE, BROWNE_HCMV_INFECTION_24HR_UP, BIOCARTA_TALL1_PATHWAY, GOBP_TUMOR_NECROSIS_FACTOR_MEDIATED_SIGNALING_PATHWAY, GOBP_ADAPTIVE_IMMUNE_RESPONSE, ZEILSTRA_CD44_TARGETS_DN, SANSOM_APC_TARGETS_DN, GOBP_MULTICELLULAR_ORGANISMAL_LEVEL_HOMEOSTASIS, SABATES_COLORECTAL_ADENOMA_DN

GO Biological Process (5): adaptive immune response (GO:0002250), lymphocyte homeostasis (GO:0002260), signal transduction (GO:0007165), tumor necrosis factor-mediated signaling pathway (GO:0033209), immune system process (GO:0002376)

GO Molecular Function (2): signaling receptor activity (GO:0038023), protein binding (GO:0005515)

GO Cellular Component (3): plasma membrane (GO:0005886), endomembrane system (GO:0012505), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
TNFR2 non-canonical NF-kB pathway	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
immune response	1
leukocyte homeostasis	1
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
cytokine-mediated signaling pathway	1
cellular response to tumor necrosis factor	1
biological_process	1
molecular transducer activity	1
binding	1
membrane	1
cell periphery	1
vacuole	1
plasma membrane	1

Protein interactions and networks

STRING

1206 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TNFRSF17	TNFSF13B	Q9Y275	999
TNFRSF17	TNFSF13	O75888	977
TNFRSF17	TNFRSF13B	O14836	959
TNFRSF17	TNFRSF13C	Q96RJ3	942
TNFRSF17	CD40LG	P29965	893
TNFRSF17	CD40	P25942	808
TNFRSF17	CD27	P26842	725
TNFRSF17	TNFRSF9	Q07011	692
TNFRSF17	CEP70	Q8NHQ1	684
TNFRSF17	TNF	P01375	678
TNFRSF17	TNFRSF8	P28908	674
TNFRSF17	CD19	P15391	668
TNFRSF17	A0A0A6YY99	A0A0A6YY99	660
TNFRSF17	CD79A	P11912	654
TNFRSF17	CD70	P32970	646

IntAct

19 interactions, top by confidence:

A	B	Type	Score
TNFSF13B	TNFRSF17	psi-mi:“MI:0915”(physical association)	0.610
TNFSF13B	TNFRSF17	psi-mi:“MI:0407”(direct interaction)	0.610
PEX16	TNFRSF17	psi-mi:“MI:0915”(physical association)	0.560
CMTM7	TNFRSF17	psi-mi:“MI:0915”(physical association)	0.560
TMBIM6	TNFRSF17	psi-mi:“MI:0915”(physical association)	0.560
TNFRSF17	PEX16	psi-mi:“MI:0915”(physical association)	0.560
TNFRSF17	CMTM7	psi-mi:“MI:0915”(physical association)	0.560
TNFRSF17	TSPAN6	psi-mi:“MI:0914”(association)	0.530
TNFRSF17	ZMPSTE24	psi-mi:“MI:0914”(association)	0.530
TNFRSF17	Tnfsf13	psi-mi:“MI:0407”(direct interaction)	0.440
TNFSF13	TNFRSF17	psi-mi:“MI:0407”(direct interaction)	0.440
APBB1	SSPOP	psi-mi:“MI:0914”(association)	0.350
TNFRSF17	TRAF5	psi-mi:“MI:0914”(association)	0.350
TMBIM6	TNFRSF17	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (32): FAM105A (Affinity Capture-MS), FAM171A1 (Affinity Capture-MS), OPA3 (Affinity Capture-MS), CD70 (Affinity Capture-MS), PARK2 (Affinity Capture-MS), TARBP1 (Affinity Capture-MS), ZMPSTE24 (Affinity Capture-MS), TSPAN6 (Affinity Capture-MS), INTS7 (Affinity Capture-MS), AGPAT1 (Affinity Capture-MS), TNFRSF17 (Co-crystal Structure), PEX16 (Two-hybrid), TMBIM6 (Two-hybrid), CMTM7 (Two-hybrid), TNFRSF17 (Positive Genetic)

ESM2 similar proteins: A0A1B0GVS7, A2CE83, A2VDU1, A5D992, A8KBE0, O43597, O43609, O43610, P28290, Q02223, Q08AD1, Q08E39, Q14CH0, Q1L0X2, Q2PFN5, Q2TBG9, Q3UUD2, Q4R815, Q5R959, Q5RGQ8, Q5TB30, Q66H35, Q6AYK4, Q6DD45, Q6GPM0, Q6NRB7, Q6P995, Q6PEM6, Q6ZUJ8, Q7ZX27, Q866R9, Q86VY9, Q8BGN6, Q8C3K5, Q8C817, Q8IYD9, Q8N957, Q96HH4, Q9BZD6, Q9C004

Diamond homologs: O88472, Q02223

SIGNOR signaling

12 interactions.

A	Effect	B	Mechanism
TNFRSF17	up-regulates	JNK
TNFRSF17	up-regulates	p38
TNFRSF17	up-regulates	ELK1
TNFRSF17	up-regulates	MAPK8
TNFRSF17	up-regulates	MAPK10
TNFRSF17	up-regulates	MAPK11
TNFRSF17	up-regulates	MAPK12
TNFRSF17	up-regulates	MAPK13
TNFRSF17	up-regulates	MAPK14
TNFRSF17	up-regulates	MAPK9
TNFRSF17	up-regulates	NfKb-p65/p50
TNFSF13	up-regulates	TNFRSF17	binding

Disease & clinical

Cancer significance

Clinical variants and AI predictions

ClinVar

1 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	1
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

335 predictions. Top by Δscore:

Variant	Effect	Δscore
16:11967566:TTAGG:T	acceptor_loss	1.0000
16:11966190:T:G	acceptor_gain	0.9900
16:11966190:TAAA:T	acceptor_loss	0.9900
16:11966191:AAAG:A	acceptor_gain	0.9900
16:11966192:A:G	acceptor_gain	0.9900
16:11966193:A:AC	acceptor_loss	0.9900
16:11966194:G:GT	acceptor_loss	0.9900
16:11966194:GGT:G	acceptor_gain	0.9900
16:11966337:CACAG:C	donor_loss	0.9900
16:11966338:ACAGG:A	donor_loss	0.9900
16:11966339:CAGGT:C	donor_loss	0.9900
16:11966340:AG:A	donor_loss	0.9900
16:11966341:G:T	donor_loss	0.9900
16:11966342:GTT:G	donor_loss	0.9900
16:11966343:T:G	donor_loss	0.9900
16:11967562:A:AG	acceptor_gain	0.9900
16:11967563:T:G	acceptor_gain	0.9900
16:11967565:A:G	acceptor_gain	0.9900
16:11967568:A:AG	acceptor_gain	0.9900
16:11967568:AG:A	acceptor_gain	0.9900
16:11967569:G:GG	acceptor_gain	0.9900
16:11967569:GG:G	acceptor_gain	0.9900
16:11967569:GGA:G	acceptor_gain	0.9900
16:11967569:GGAT:G	acceptor_gain	0.9900
16:11967569:GGATC:G	acceptor_gain	0.9900
16:11965451:GCAA:G	donor_gain	0.9800
16:11966191:A:AG	acceptor_gain	0.9800
16:11967564:A:AG	acceptor_gain	0.9800
16:11966194:GGTGT:G	acceptor_gain	0.9700
16:11966358:A:G	donor_gain	0.9700

AlphaMissense

1209 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
16:11965394:T:A	C24S	0.975
16:11965395:G:C	C24S	0.975
16:11965433:T:A	C37S	0.974
16:11965434:G:C	C37S	0.974
16:11966251:A:C	S63R	0.973
16:11966253:C:A	S63R	0.973
16:11966253:C:G	S63R	0.973
16:11965396:T:G	C24W	0.972
16:11965394:T:C	C24R	0.970
16:11965362:A:G	Y13C	0.968
16:11965406:T:A	C28S	0.967
16:11965407:G:C	C28S	0.967
16:11965433:T:C	C37R	0.966
16:11965435:T:G	C37W	0.966
16:11965434:G:A	C37Y	0.964
16:11965395:G:A	C24Y	0.963
16:11965346:T:A	C8S	0.961
16:11965347:G:C	C8S	0.961
16:11965406:T:C	C28R	0.961
16:11965368:A:T	D15V	0.959
16:11965408:T:G	C28W	0.958
16:11965361:T:C	Y13H	0.957
16:11965387:C:G	C21W	0.954
16:11965445:T:A	C41S	0.954
16:11965446:G:C	C41S	0.954
16:11965369:C:A	D15E	0.953
16:11965369:C:G	D15E	0.953
16:11965386:G:A	C21Y	0.953
16:11965385:T:A	C21S	0.949
16:11965386:G:C	C21S	0.949

dbSNP variants (sampled 300 via entrez): RS1000713202 (16:11966624 G>C), RS1000777717 (16:11965609 A>C), RS1001083273 (16:11966959 C>T), RS1002798107 (16:11963988 T>C,G), RS1003187878 (16:11965513 T>G), RS1003629907 (16:11965271 A>G,T), RS1003694139 (16:11965165 A>G), RS1003746579 (16:11965389 T>C), RS1004461122 (16:11967944 C>A,T), RS1004862764 (16:11963461 C>T), RS1005329573 (16:11965212 T>A,C), RS1005407225 (16:11963720 G>A), RS1005473935 (16:11964177 A>G), RS1006828630 (16:11966955 G>C), RS1006884563 (16:11967185 A>G)

Disease associations

OMIM: gene MIM:109545 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST000363_8	QT interval	5.000000e-15
GCST003246_3	Testicular germ cell tumor	2.000000e-08
GCST006585_2648	Blood protein levels	9.000000e-07
GCST008755_9	Phenylephrine infusion rate during anesthesia	5.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004682	QT interval

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL4523587 (SINGLE PROTEIN)

PharmGKB: 1 entry (VIP=true, CPIC=false)

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: catalytic receptor — Tumour necrosis factor (TNF) receptor family

Most potent curated ligand interactions (2 total), top 2:

Ligand	Action	Affinity	Parameter
belantamab mafodotin	Binding	9.82	pKd
linvoseltamab	Binding	7.64	pEC50

CTD chemical–gene interactions

21 total (human), top 21 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
tamibarotene	increases expression	1
di-n-butylphosphoric acid	affects expression	1
motexafin gadolinium	decreases expression, affects cotreatment	1
(+)-JQ1 compound	decreases expression	1
Arsenic Trioxide	decreases expression	1
Air Pollutants, Occupational	decreases expression	1
Arsenic	affects expression	1
Benzo(a)pyrene	affects methylation	1
Demecolcine	decreases expression	1
Environmental Pollutants	affects expression	1
Ethyl Methanesulfonate	decreases expression	1
Formaldehyde	decreases expression	1
Hydroxychloroquine	affects cotreatment, decreases expression	1
Menthol	increases expression	1
Methotrexate	affects cotreatment, decreases expression	1
Methyl Methanesulfonate	decreases expression	1
Nickel	decreases expression	1
Sulfasalazine	decreases expression, affects cotreatment	1
Vincristine	decreases expression	1
Zinc	increases expression	1
Zinc Acetate	affects cotreatment, decreases expression	1

Cellosaurus cell lines

9 cell lines: 6 cancer cell line, 2 transformed cell line, 1 spontaneously immortalized cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B8R3	Abcam HCT 116 TNFRSF17 KO	Cancer cell line	Male
CVCL_B9TH	Abcam A-549 TNFRSF17 KO	Cancer cell line	Male
CVCL_D2HF	Abcam MCF-7 TNFRSF17 KO	Cancer cell line	Female
CVCL_E4BI	K562-Fluc-Puro/HuBCMA-Neo	Cancer cell line	Female
CVCL_E6S3	Genomeditech CHO-K1 H_TNFRSF17(BCMA)	Spontaneously immortalized cell line	Female
CVCL_E6V6	Genomeditech HEK-293 H_TNFRSF17(BCMA)	Transformed cell line	Female
CVCL_E8DM	BPS Bioscience MM.1S TNFRSF17 KO	Cancer cell line	Female
CVCL_E8DP	BPS Bioscience RPMI-8226 TNFRSF17 KO	Cancer cell line	Male
CVCL_UE35	293T human BCMA	Transformed cell line	Female

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.