TNFRSF17 Gene (Protein Coding)

TNF Receptor Superfamily Member 17

GC16P011965
GIFtS:
44
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 M... See more...

Aliases for TNFRSF17 Gene

Aliases for TNFRSF17 Gene

  • TNF Receptor Superfamily Member 17 2 3 5
  • BCM 2 3 4
  • Tumor Necrosis Factor Receptor Superfamily Member 17 3 4
  • B-Cell Maturation Protein 3 4
  • TNFRSF13A 2 3
  • CD269 2 3
  • BCMA 3 4
  • Tumor Necrosis Factor Receptor Superfamily, Member 17 2
  • B Cell Maturation Antigen 3
  • B-Cell Maturation Factor 3
  • CD269 Antigen 4
  • TNFRSF17 5

External Ids for TNFRSF17 Gene

Previous HGNC Symbols for TNFRSF17 Gene

  • BCMA

Previous GeneCards Identifiers for TNFRSF17 Gene

  • GC16P011842
  • GC16P012211
  • GC16P012025
  • GC16P011966
  • GC16P012058

Summaries for TNFRSF17 Gene

Entrez Gene Summary for TNFRSF17 Gene

  • 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. [provided by RefSeq, Jul 2008]

GeneCards Summary for TNFRSF17 Gene

TNFRSF17 (TNF Receptor Superfamily Member 17) is a Protein Coding gene. Diseases associated with TNFRSF17 include Desmoplastic Small Round Cell Tumor and Macroglobulinemia. Among its related pathways are TRAF Pathway and TNF Superfamily - Human Ligand-Receptor Interactions and their Associated Functions. An important paralog of this gene is TNFRSF13C.

UniProtKB/Swiss-Prot Summary for TNFRSF17 Gene

  • 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.

Gene Wiki entry for TNFRSF17 Gene

Additional gene information for TNFRSF17 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TNFRSF17 Gene

Genomics for TNFRSF17 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for TNFRSF17 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TNFRSF17 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TNFRSF17

Top Transcription factor binding sites by QIAGEN in the TNFRSF17 gene promoter:
  • aMEF-2
  • AP-1
  • ATF-2
  • c-Jun
  • HOXA9
  • HOXA9B
  • MEF-2A
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for TNFRSF17 Gene

Genomic Locations for TNFRSF17 Gene
chr16:11,965,210-11,968,068
(GRCh38/hg38)
Size:
2,859 bases
Orientation:
Plus strand
chr16:12,058,964-12,061,925
(GRCh37/hg19)
Size:
2,962 bases
Orientation:
Plus strand

Genomic View for TNFRSF17 Gene

Genes around TNFRSF17 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TNFRSF17 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TNFRSF17 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for TNFRSF17 Gene

Proteins for TNFRSF17 Gene

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  • Protein details for TNFRSF17 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q02223-TNR17_HUMAN
    Recommended name:
    Tumor necrosis factor receptor superfamily member 17
    Protein Accession:
    Q02223
    Secondary Accessions:
    • Q2TQ40

    Protein attributes for TNFRSF17 Gene

    Size:
    184 amino acids
    Molecular mass:
    20165 Da
    Quaternary structure:
    • Associates with TRAF1, TRAF2, TRAF3, TRAF5 and TRAF6.
    Miscellaneous:
    • [Isoform 2]: Observed only in some CD19+ cell.

    Three dimensional structures from OCA and Proteopedia for TNFRSF17 Gene

    Alternative splice isoforms for TNFRSF17 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TNFRSF17 Gene

Protein Expression for TNFRSF17 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for TNFRSF17 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TNFRSF17 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for TNFRSF17
  • Biorbyt antibodies for TNFRSF17

Protein Products

  • Abcam proteins for TNFRSF17

Assay Products

  • Abcam assays for TNFRSF17

No data available for DME Specific Peptides for TNFRSF17 Gene

Domains & Families for TNFRSF17 Gene

Gene Families for TNFRSF17 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • CD markers
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for TNFRSF17 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TNFRSF17 Gene

GenScript: Design optimal peptide antigens:
  • B cell maturation antigen transcript variant 2 (A7KBT3_HUMAN)
  • B cell maturation antigen transcript variant 3 (A7KBT4_HUMAN)
  • B cell maturation antigen transcript variant 5 (A7KBT6_HUMAN)
  • Tumor necrosis factor receptor superfamily, member 17 (Q6PE46_HUMAN)
  • B-cell maturation protein (TNR17_HUMAN)
genes like me logo Genes that share domains with TNFRSF17: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for TNFRSF17 Gene

Function for TNFRSF17 Gene

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Molecular function for TNFRSF17 Gene

UniProtKB/Swiss-Prot 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.
GENATLAS Biochemistry:
tumor necrosis factor receptor superfamily,member 17,B cell maturation gene,expressed in terminal stages of B cell differentiation,fused with IL2 in t(4;16)(q26;p13) translocation

Phenotypes From GWAS Catalog for TNFRSF17 Gene

Gene Ontology (GO) - Molecular Function for TNFRSF17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0038023 signaling receptor activity TAS,IEA --
genes like me logo Genes that share ontologies with TNFRSF17: view
genes like me logo Genes that share phenotypes with TNFRSF17: view

Animal Models for TNFRSF17 Gene

MGI Knock Outs for TNFRSF17:

Animal Model Products

CRISPR Products

miRNA for TNFRSF17 Gene

miRTarBase miRNAs that target TNFRSF17

Inhibitory RNA Products

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No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for TNFRSF17 Gene

Localization for TNFRSF17 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TNFRSF17 Gene

Cell membrane. Single-pass type III membrane protein. Endomembrane system. Single-pass type III membrane protein. Note=Perinuclear Golgi-like structures.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TNFRSF17 gene
Compartment Confidence
plasma membrane 5
cytosol 3
extracellular 2
cytoskeleton 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for TNFRSF17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0012505 endomembrane system IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TNFRSF17: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TNFRSF17 Gene

Pathways & Interactions for TNFRSF17 Gene

PathCards logo

SuperPathways for TNFRSF17 Gene

SuperPathway Contained pathways
1 TGF-Beta Pathway
MAPK Family Pathway
.60
TGF-Beta Pathway
.60
JAK-STAT Pathway
.57
JNK Pathway
.51
Regulation of eIF4 and p70S6K
.43
SOCS Pathway
.41
2 PEDF Induced Signaling
NFAT Signaling and Lymphocyte Interactions
.57
PGC1Alpha Pathway
.51
STAT3 Pathway
.47
Glucocorticoid Receptor Signaling
.43
Cytokine-cytokine receptor interaction
.43
3 Akt Signaling
Akt Signaling
.60
p38 Signaling
.60
Tec Kinases Signaling
.55
4 RANK Signaling in Osteoclasts
APRIL Pathway
.92
BAFF in B-Cell Signaling
.92
Apoptosis and survival APRIL and BAFF signaling
.39
5 TNF Superfamily - Human Ligand-Receptor Interactions and their Associated Functions
TNF Superfamily - Human Ligand-Receptor Interactions and their Associated Functions
.52
TNFs bind their physiological receptors
.52
genes like me logo Genes that share pathways with TNFRSF17: view

Pathways by source for TNFRSF17 Gene

3 GeneGo (Thomson Reuters) pathways for TNFRSF17 Gene
  • Apoptosis and survival Anti-apoptotic TNFs/NF-kB/Bcl-2 pathway
  • Apoptosis and survival Anti-apoptotic TNFs/NF-kB/IAP pathway
  • Apoptosis and survival APRIL and BAFF signaling
19 Qiagen pathways for TNFRSF17 Gene
  • Akt Signaling
  • Antioxidant Action of Vitamin-C
  • APRIL Pathway
  • BAFF in B-Cell Signaling
  • Glucocorticoid Receptor Signaling
1 Cell Signaling Technology pathway for TNFRSF17 Gene

SIGNOR curated interactions for TNFRSF17 Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for TNFRSF17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002250 adaptive immune response IEA --
GO:0002260 lymphocyte homeostasis IEA --
GO:0002376 immune system process IEA --
GO:0007165 signal transduction TAS 10908663
GO:0007275 multicellular organism development TAS 8165126
genes like me logo Genes that share ontologies with TNFRSF17: view

Drugs & Compounds for TNFRSF17 Gene

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(4) Drugs for TNFRSF17 Gene - From: DGIdb, IUPHAR, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
APRIL Pharma 0
BAFF Pharma 0
LYMPHORAD Pharma 0

(2) Additional Compounds for TNFRSF17 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with TNFRSF17: view

Transcripts for TNFRSF17 Gene

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  2. miRNA
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mRNA/cDNA for TNFRSF17 Gene

1 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TNFRSF17

Alternative Splicing Database (ASD) splice patterns (SP) for TNFRSF17 Gene

No ASD Table

Relevant External Links for TNFRSF17 Gene

GeneLoc Exon Structure for
TNFRSF17

Expression for TNFRSF17 Gene

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  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TNFRSF17 Gene

mRNA expression in normal human tissues for TNFRSF17 Gene
mRNA expression by BioGPS for TNFRSF17 GenemRNA expression by GTEx for TNFRSF17 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TNFRSF17 Gene

This gene is overexpressed in Spleen (x5.0).

Protein differential expression in normal tissues from HIPED for TNFRSF17 Gene

This gene is overexpressed in Heart (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for TNFRSF17 Gene



Protein tissue co-expression partners for TNFRSF17 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TNFRSF17

SOURCE GeneReport for Unigene cluster for TNFRSF17 Gene:

Hs.2556

mRNA Expression by UniProt/SwissProt for TNFRSF17 Gene:

Q02223-TNR17_HUMAN
Tissue specificity: Expressed in mature B-cells, but not in T-cells or monocytes.

Evidence on tissue expression from TISSUES for TNFRSF17 Gene

  • Blood(4.6)
  • Lymph node(4.6)
  • Spleen(2.8)
  • Bone marrow(2.6)
  • Muscle(2.3)
  • Heart(2.3)
  • Intestine(2.2)
  • Skin(2.2)
  • Nervous system(2.2)
  • Kidney(2.1)
  • Stomach(2.1)
genes like me logo Genes that share expression patterns with TNFRSF17: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for TNFRSF17 Gene

Orthologs for TNFRSF17 Gene

This gene was present in the common ancestor of mammals.

Orthologs for TNFRSF17 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia TNFRSF17 30 31
  • 99.82 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia TNFRSF17 30 31
  • 83.53 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia TNFRSF17 30
  • 79.81 (n)
Mouse
(Mus musculus)
 Mammalia Tnfrsf17 30 17 31
  • 75.05 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Tnfrsf17 30
  • 74.86 (n)
Oppossum
(Monodelphis domestica)
 Mammalia TNFRSF17 31
  • 46 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia TNFRSF17 31
  • 45 (a)
 OneToOne
Species where no ortholog for TNFRSF17 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for TNFRSF17 Gene

ENSEMBL:
Gene Tree for TNFRSF17 (if available)
TreeFam:
Gene Tree for TNFRSF17 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TNFRSF17: view image

Paralogs for TNFRSF17 Gene

Paralogs for TNFRSF17 Gene

(51) SIMAP similar genes for TNFRSF17 Gene using alignment to 3 proteins:

  • TNR17_HUMAN
  • H3BMB5_HUMAN
  • Q6PE46_HUMAN

Pseudogenes.org Pseudogenes for TNFRSF17 Gene

genes like me logo Genes that share paralogs with TNFRSF17: view

Variants for TNFRSF17 Gene

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  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TNFRSF17 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
779009 Benign: not provided 11,967,820(+) G/C MISSENSE_VARIANT
rs11570148 Uncertain Significance: not provided. - 11,966,287(+) T/Gp.Phe75Val MISSENSE_VARIANT
rs371163866 Other: Desmoplastic small round cell tumor 11,967,816(+) C/T MISSENSE_VARIANT
rs11570146 - p.Ala54Val
rs11570147 - p.Ile65Val

Additional dbSNP identifiers (rs#s) for TNFRSF17 Gene

Structural Variations from Database of Genomic Variants (DGV) for TNFRSF17 Gene

Variant ID Type Subtype PubMed ID
nsv1043959 CNV gain 25217958
nsv571458 CNV gain 21841781
nsv571459 CNV loss 21841781

Variation tolerance for TNFRSF17 Gene

Residual Variation Intolerance Score: 75.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.45; 28.39% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TNFRSF17 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TNFRSF17

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TNFRSF17 Gene

Disorders for TNFRSF17 Gene

MalaCards: The human disease database

(14) MalaCards diseases for TNFRSF17 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
desmoplastic small round cell tumor
  • desmoplastic small round-cell tumor
macroglobulinemia
  • waldenstrom macroglobulinemia
cryptococcal meningitis
  • meningitis cryptococcal
autoimmune disease
  • autoimmune hypersensitivity disease
granulomatous amebic encephalitis
  • acanthamoeba encephalitis
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

TNR17_HUMAN
  • Note=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. {ECO:0000269 PubMed:1396583}.

Additional Disease Information for TNFRSF17

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with TNFRSF17: view

No data available for Genatlas for TNFRSF17 Gene

Publications for TNFRSF17 Gene

  1. The BCMA gene, preferentially expressed during B lymphoid maturation, is bidirectionally transcribed. (PMID: 8165126) Laabi Y … Tsapis A (Nucleic acids research 1994) 2 3 4 23
  2. Identification of new splice variants of the genes BAFF and BCMA. (PMID: 17825416) Smirnova AS … Gerbase-DeLima M (Molecular immunology 2008) 3 4 23
  3. Ligand-receptor binding revealed by the TNF family member TALL-1. (PMID: 12721620) Liu Y … Zhang G (Nature 2003) 3 4 23
  4. Presence of four major haplotypes in human BCMA gene: lack of association with systemic lupus erythematosus and rheumatoid arthritis. (PMID: 11528522) Kawasaki A … Tokunaga K (Genes and immunity 2001) 3 4 41
  5. TNF receptor family member BCMA (B cell maturation) associates with TNF receptor-associated factor (TRAF) 1, TRAF2, and TRAF3 and activates NF-kappa B, elk-1, c-Jun N-terminal kinase, and p38 mitogen-activated protein kinase. (PMID: 10903733) Hatzoglou A … Tsapis A (Journal of immunology (Baltimore, Md. : 1950) 2000) 3 4 23

ExternalLinks

View latest publications for TNFRSF17 gene in Mastermind

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