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Aliases for TNFRSF17 Gene

Aliases for TNFRSF17 Gene

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

External Ids for TNFRSF17 Gene

Previous HGNC Symbols for TNFRSF17 Gene

  • BCMA

Previous GeneCards Identifiers for TNFRSF17 Gene

  • GC16P011842
  • GC16P012211
  • GC16P012025
  • GC16P011966

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 Common Variable Immunodeficiency and Cryptococcal Meningitis. Among its related pathways are PEDF Induced Signaling and TNF Signaling (sino). GO annotations related to this gene include receptor activity.

UniProtKB/Swiss-Prot 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TNFRSF17 Gene

Genomics for TNFRSF17 Gene

Regulatory Elements for TNFRSF17 Gene

Enhancers for TNFRSF17 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around TNFRSF17 on UCSC Golden Path with GeneCards custom track

Genomic Location for TNFRSF17 Gene

Chromosome:
16
Start:
11,965,107 bp from pter
End:
11,968,068 bp from pter
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 StructureGene Density

RefSeq DNA sequence for TNFRSF17 Gene

Proteins for TNFRSF17 Gene

  • 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.

    Three dimensional structures from OCA and Proteopedia for TNFRSF17 Gene

    Alternative splice isoforms for TNFRSF17 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TNFRSF17 Gene

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

  • R&D Systems Antibodies for TNFRSF17 (BCMA/TNFRSF17)
  • Abcam antibodies for BCMA

Protein Products

  • Enzo Life Sciences proteins for TNFRSF17
  • Abcam proteins for BCMA

No data available for DME Specific Peptides for TNFRSF17 Gene

Domains & Families for TNFRSF17 Gene

Protein Domains for TNFRSF17 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q02223

UniProtKB/Swiss-Prot:

TNR17_HUMAN :
  • Contains 1 TNFR-Cys repeat.
Similarity:
  • Contains 1 TNFR-Cys repeat.
genes like me logo Genes that share domains with TNFRSF17: view

Function for TNFRSF17 Gene

Molecular function for TNFRSF17 Gene

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
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.

Gene Ontology (GO) - Molecular Function for TNFRSF17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004872 receptor activity TAS 10908663
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

Clone Products

Flow Cytometry Products

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
Jensen Localization Image for TNFRSF17 Gene COMPARTMENTS Subcellular localization image for TNFRSF17 gene
Compartment Confidence
plasma membrane 5
cytosol 3
extracellular 2
endoplasmic reticulum 1
mitochondrion 1
nucleus 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:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TNFRSF17: view

Pathways & Interactions for TNFRSF17 Gene

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

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:0007165 signal transduction TAS 10908663
GO:0007275 multicellular organism development TAS 8165126
GO:0008283 cell proliferation TAS 10908663
genes like me logo Genes that share ontologies with TNFRSF17: view

Drugs & Compounds for TNFRSF17 Gene

(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

mRNA/cDNA for TNFRSF17 Gene

Unigene Clusters for TNFRSF17 Gene

Tumor necrosis factor receptor superfamily, member 17:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for TNFRSF17 Gene

GeneLoc Exon Structure for
TNFRSF17
ECgene alternative splicing isoforms for
TNFRSF17

Expression for TNFRSF17 Gene

mRNA expression in normal human tissues 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

NURSA nuclear receptor signaling pathways regulating expression of TNFRSF17 Gene:

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.
genes like me logo Genes that share expression patterns with TNFRSF17: view

Primer Products

Orthologs for TNFRSF17 Gene

This gene was present in the common ancestor of mammals.

Orthologs for TNFRSF17 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia TNFRSF17 34
  • 79.81 (n)
  • 72 (a)
dog
(Canis familiaris)
Mammalia TNFRSF17 34
  • 83.53 (n)
  • 77.33 (a)
TNFRSF17 35
  • 72 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tnfrsf17 34
  • 75.05 (n)
  • 65.92 (a)
Tnfrsf17 16
Tnfrsf17 35
  • 64 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TNFRSF17 34
  • 99.82 (n)
  • 99.46 (a)
TNFRSF17 35
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tnfrsf17 34
  • 74.86 (n)
  • 64.25 (a)
oppossum
(Monodelphis domestica)
Mammalia TNFRSF17 35
  • 46 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TNFRSF17 35
  • 45 (a)
OneToOne
Species where no ortholog for TNFRSF17 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for TNFRSF17 Gene

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

No data available for Paralogs for TNFRSF17 Gene

Variants for TNFRSF17 Gene

Sequence variations from dbSNP and Humsavar for TNFRSF17 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs150352299 - 11,967,749(+) AAGGC(A/G)CAACC reference, missense
rs11570146 - 11,966,225(+) GAATG(C/T)GATTC reference, missense
rs11570147 - 11,966,257(+) GCTTA(A/G)TAATT reference, missense
rs11570148 - 11,966,287(+) TAATG(C/G/T)TTTTG reference, missense
rs373496 - 11,966,306(-) CAGAG(C/T)TTATC reference, missense

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)

Relevant External Links 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

(3) MalaCards diseases for TNFRSF17 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
common variable immunodeficiency
  • acquired agammaglobulinemia
cryptococcal meningitis
  • meningitis cryptococcal
blue cone monochromacy
  • blue cone monochromatism
- 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}.

Relevant External Links for TNFRSF17

Genetic Association Database (GAD)
TNFRSF17
Human Genome Epidemiology (HuGE) Navigator
TNFRSF17
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TNFRSF17
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 Res. 1994) 2 3 4 22 65
  2. Identification of new splice variants of the genes BAFF and BCMA. (PMID: 17825416) Smirnova A.S. … Gerbase-DeLima M. (Mol. Immunol. 2008) 3 4 22 65
  3. Ligand-receptor binding revealed by the TNF family member TALL-1. (PMID: 12721620) Liu Y. … Zhang G. (Nature 2003) 3 4 22 65
  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 Immun. 2001) 3 4 46 65
  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. (J. Immunol. 2000) 3 4 22 65

Products for TNFRSF17 Gene

Sources for TNFRSF17 Gene

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