The protein encoded by this gene is a member of the TNF-receptor superfamily. This protein and TNF-receptor 1 form a heterocomplex that mediates the recruitment of two anti-apoptotic proteins, c-IAP1 and c-IAP2, which possess E3 ubiquitin ligase activity. The function of IAPs in TNF-receptor signalling is unknown, however, c-IAP1 is thought to potentiate TNF-induced apoptosis b... See more...

Aliases for TNFRSF1B Gene

Aliases for TNFRSF1B Gene

  • TNF Receptor Superfamily Member 1B 2 3 5
  • Tumor Necrosis Factor Receptor Superfamily Member 1B 3 4
  • Tumor Necrosis Factor Receptor Type II 3 4
  • Tumor Necrosis Factor Receptor 2 3 4
  • P80 TNF-Alpha Receptor 3 4
  • TNF-RII 3 4
  • TNF-R2 3 4
  • TNFR2 3 4
  • TNFBR 3 4
  • P75 3 4
  • Tumor Necrosis Factor Receptor Superfamily, Member 1B 2
  • Tumor Necrosis Factor Binding Protein 2 3
  • Tumor Necrosis Factor Beta Receptor 3
  • Soluble TNFR1B Variant 1 3
  • P75 TNF Receptor 3
  • CD120b Antigen 4
  • Etanercept 4
  • TNF-R-II 3
  • TNF-R75 3
  • P75TNFR 3
  • TNFR-II 4
  • CD120b 3
  • TNFR1B 3
  • TNFR80 3
  • TBPII 3

External Ids for TNFRSF1B Gene

Previous HGNC Symbols for TNFRSF1B Gene

  • TNFR2

Previous GeneCards Identifiers for TNFRSF1B Gene

  • GC01P012291
  • GC01P012071
  • GC01P011836
  • GC01P011936
  • GC01P012161
  • GC01P011380
  • GC01P012227

Summaries for TNFRSF1B Gene

Entrez Gene Summary for TNFRSF1B Gene

  • The protein encoded by this gene is a member of the TNF-receptor superfamily. This protein and TNF-receptor 1 form a heterocomplex that mediates the recruitment of two anti-apoptotic proteins, c-IAP1 and c-IAP2, which possess E3 ubiquitin ligase activity. The function of IAPs in TNF-receptor signalling is unknown, however, c-IAP1 is thought to potentiate TNF-induced apoptosis by the ubiquitination and degradation of TNF-receptor-associated factor 2, which mediates anti-apoptotic signals. Knockout studies in mice also suggest a role of this protein in protecting neurons from apoptosis by stimulating antioxidative pathways. [provided by RefSeq, Jul 2008]

GeneCards Summary for TNFRSF1B Gene

TNFRSF1B (TNF Receptor Superfamily Member 1B) is a Protein Coding gene. Diseases associated with TNFRSF1B include Mycosis Fungoides and Sezary's Disease. Among its related pathways are Allograft rejection and 14-3-3 and Regulation of BAD Activity. Gene Ontology (GO) annotations related to this gene include ubiquitin protein ligase binding and tumor necrosis factor-activated receptor activity. An important paralog of this gene is TNFRSF21.

UniProtKB/Swiss-Prot Summary for TNFRSF1B Gene

  • Receptor with high affinity for TNFSF2/TNF-alpha and approximately 5-fold lower affinity for homotrimeric TNFSF1/lymphotoxin-alpha. The TRAF1/TRAF2 complex recruits the apoptotic suppressors BIRC2 and BIRC3 to TNFRSF1B/TNFR2. This receptor mediates most of the metabolic effects of TNF-alpha. Isoform 2 blocks TNF-alpha-induced apoptosis, which suggests that it regulates TNF-alpha function by antagonizing its biological activity.

Gene Wiki entry for TNFRSF1B Gene

Additional gene information for TNFRSF1B Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TNFRSF1B Gene

Genomics for TNFRSF1B Gene

GeneHancer (GH) Regulatory Elements for TNFRSF1B Gene

Promoters and enhancers for TNFRSF1B 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 TNFRSF1B on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TNFRSF1B gene promoter:
  • AML1a
  • STAT3

Genomic Locations for TNFRSF1B Gene

Genomic Locations for TNFRSF1B Gene
chr1:12,166,949-12,209,228
(GRCh38/hg38)
Size:
42,280 bases
Orientation:
Plus strand
chr1:12,227,060-12,269,285
(GRCh37/hg19)
Size:
42,226 bases
Orientation:
Plus strand

Genomic View for TNFRSF1B Gene

Genes around TNFRSF1B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TNFRSF1B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TNFRSF1B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TNFRSF1B Gene

Proteins for TNFRSF1B Gene

  • Protein details for TNFRSF1B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P20333-TNR1B_HUMAN
    Recommended name:
    Tumor necrosis factor receptor superfamily member 1B
    Protein Accession:
    P20333
    Secondary Accessions:
    • B1AJZ3
    • Q16042
    • Q6YI29
    • Q9UIH1

    Protein attributes for TNFRSF1B Gene

    Size:
    461 amino acids
    Molecular mass:
    48291 Da
    Quaternary structure:
    • Binds to TRAF2 (PubMed:8069916, PubMed:10206649). Interacts with BMX (PubMed:12370298). Interacts (activated form) with XPNPEP3 (PubMed:25609706).

    Three dimensional structures from OCA and Proteopedia for TNFRSF1B Gene

    Alternative splice isoforms for TNFRSF1B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TNFRSF1B Gene

Post-translational modifications for TNFRSF1B Gene

  • Phosphorylated; mainly on serine residues and with a very low level on threonine residues.
  • A soluble form (tumor necrosis factor binding protein 2) is produced from the membrane form by proteolytic processing.
  • Glycosylation at Thr30, Asn171, Asn193, Thr206, Ser208, Ser221, and Thr222
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • TNR1B_HUMAN (705)

Other Protein References for TNFRSF1B Gene

Antibody Products

Protein Products

Assay Products

No data available for DME Specific Peptides for TNFRSF1B Gene

Domains & Families for TNFRSF1B Gene

Gene Families for TNFRSF1B Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Candidate cardiovascular disease genes
  • CD markers
  • Plasma proteins
  • Predicted membrane proteins
  • Predicted secreted proteins

Protein Domains for TNFRSF1B Gene

Suggested Antigen Peptide Sequences for TNFRSF1B Gene

GenScript: Design optimal peptide antigens:
  • TNFRSF1B protein (Q8IVS6_HUMAN)
  • Tumor necrosis factor receptor 2 (Q9UIG9_HUMAN)
  • Tumor necrosis factor receptor 2 (Q9UIH0_HUMAN)
  • Tumor necrosis factor receptor 2 (Q9UIH2_HUMAN)
  • p80 TNF-alpha receptor (TNR1B_HUMAN)
genes like me logo Genes that share domains with TNFRSF1B: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for TNFRSF1B Gene

Function for TNFRSF1B Gene

Molecular function for TNFRSF1B Gene

UniProtKB/Swiss-Prot Function:
Receptor with high affinity for TNFSF2/TNF-alpha and approximately 5-fold lower affinity for homotrimeric TNFSF1/lymphotoxin-alpha. The TRAF1/TRAF2 complex recruits the apoptotic suppressors BIRC2 and BIRC3 to TNFRSF1B/TNFR2. This receptor mediates most of the metabolic effects of TNF-alpha. Isoform 2 blocks TNF-alpha-induced apoptosis, which suggests that it regulates TNF-alpha function by antagonizing its biological activity.
GENATLAS Biochemistry:
tumor necrosis factor receptor superfamily,member 1B,deleted in neuroblastoma,associated with susceptibility to systemic lupus erythematosus

Phenotypes From GWAS Catalog for TNFRSF1B Gene

Gene Ontology (GO) - Molecular Function for TNFRSF1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005031 tumor necrosis factor-activated receptor activity TAS,IEA --
GO:0005515 protein binding IPI,IEA 8069916
GO:0031625 ubiquitin protein ligase binding IPI 11279055
GO:0043120 tumor necrosis factor binding IPI 9435233
genes like me logo Genes that share ontologies with TNFRSF1B: view
genes like me logo Genes that share phenotypes with TNFRSF1B: view

Human Phenotype Ontology for TNFRSF1B Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TNFRSF1B Gene

MGI Knock Outs for TNFRSF1B:

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for TNFRSF1B Gene

Localization for TNFRSF1B Gene

Subcellular locations from UniProtKB/Swiss-Prot for TNFRSF1B Gene

Isoform 1: Cell membrane; Single-pass type I membrane protein.
Isoform 2: Secreted.
Tumor necrosis factor-binding protein 2: Secreted.

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 TNFRSF1B gene
Compartment Confidence
plasma membrane 5
extracellular 5
nucleus 3
cytosol 2
cytoskeleton 1
mitochondrion 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for TNFRSF1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002947 tumor necrosis factor receptor superfamily complex TAS 24966471
GO:0005576 extracellular region IEA --
GO:0005634 nucleus IEA --
GO:0005886 plasma membrane TAS --
GO:0016020 membrane TAS 24966471
genes like me logo Genes that share ontologies with TNFRSF1B: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TNFRSF1B Gene

Pathways & Interactions for TNFRSF1B Gene

PathCards logo

SuperPathways for TNFRSF1B Gene

SuperPathway Contained pathways
1 PEDF Induced Signaling
.51
.47
.43
2 TGF-Beta Pathway
.60
.60
.57
.51
3 Akt Signaling
.60
.60
.55
4 TNFR1 Pathway
.55
.42
5 Innate Immune System
genes like me logo Genes that share pathways with TNFRSF1B: view

Pathways by source for TNFRSF1B Gene

1 R&D Systems pathway for TNFRSF1B Gene
28 Qiagen pathways for TNFRSF1B Gene
  • 14-3-3 and Regulation of BAD Activity
  • Akt Signaling
  • Antioxidant Action of Vitamin-C
  • Apoptotic Pathways in Synovial Fibroblasts
  • Apoptotic Pathways Triggered By HIV1
2 Cell Signaling Technology pathways for TNFRSF1B Gene

SIGNOR curated interactions for TNFRSF1B Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for TNFRSF1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002724 regulation of T cell cytokine production ISS --
GO:0002739 regulation of cytokine secretion involved in immune response IEA,ISS --
GO:0003176 aortic valve development ISS,IEA --
GO:0003177 pulmonary valve development IEA,ISS --
GO:0003332 negative regulation of extracellular matrix constituent secretion IEA,ISS --
genes like me logo Genes that share ontologies with TNFRSF1B: view

Drugs & Compounds for TNFRSF1B Gene

(47) Drugs for TNFRSF1B Gene - From: DrugBank, PharmGKB, DGIdb, IUPHAR, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Etanercept Approved, Investigational Pharma Target 436
Infliximab Approved Pharma 446
Tasonermin Approved Pharma Target, agonist 0
tumour necrosis factor membrane form Pharma 0
Tumor necrosis factor alpha (TNF-alpha) inhibitors Pharma 0

(39) Additional Compounds for TNFRSF1B Gene - From: Novoseek and IUPHAR

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
lymphotoxin-alpha
genes like me logo Genes that share compounds with TNFRSF1B: view

Transcripts for TNFRSF1B Gene

mRNA/cDNA for TNFRSF1B Gene

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TNFRSF1B Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b
SP1: -
SP2: - - -
SP3: - -
SP4:

Relevant External Links for TNFRSF1B Gene

GeneLoc Exon Structure for
TNFRSF1B
ECgene alternative splicing isoforms for
TNFRSF1B

Expression for TNFRSF1B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TNFRSF1B Gene

mRNA differential expression in normal tissues according to GTEx for TNFRSF1B Gene

This gene is overexpressed in Whole Blood (x24.5).

Protein differential expression in normal tissues from HIPED for TNFRSF1B Gene

This gene is overexpressed in CD8 Tcells (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for TNFRSF1B Gene



Protein tissue co-expression partners for TNFRSF1B Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TNFRSF1B Gene:

TNFRSF1B

SOURCE GeneReport for Unigene cluster for TNFRSF1B Gene:

Hs.256278

Evidence on tissue expression from TISSUES for TNFRSF1B Gene

  • Nervous system(4.5)
  • Urine(4.2)
  • Blood(3.5)
  • Intestine(2.8)
  • Skin(2.8)
  • Spleen(2.7)
  • Bone marrow(2.6)
  • Lung(2.6)
  • Lymph node(2.6)
  • Heart(2.4)
  • Liver(2.4)
  • Muscle(2.2)
  • Kidney(2)
  • Pancreas(2)
genes like me logo Genes that share expression patterns with TNFRSF1B: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TNFRSF1B Gene

Orthologs for TNFRSF1B Gene

This gene was present in the common ancestor of chordates.

Orthologs for TNFRSF1B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TNFRSF1B 33 32
  • 96.4 (n)
OneToOne
dog
(Canis familiaris)
Mammalia TNFRSF1B 33 32
  • 79.89 (n)
OneToOne
cow
(Bos Taurus)
Mammalia TNFRSF1B 33 32
  • 78.19 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Tnfrsf1b 17 33 32
  • 74.25 (n)
rat
(Rattus norvegicus)
Mammalia Tnfrsf1b 32
  • 72.65 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TNFRSF1B 33
  • 38 (a)
OneToOne
chicken
(Gallus gallus)
Aves TNFRSF1B 33 32
  • 45.34 (n)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii tnfrsf1b 33
  • 26 (a)
OneToOne
Species where no ortholog for TNFRSF1B 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)
  • 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)
  • oppossum (Monodelphis domestica)
  • 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)

Evolution for TNFRSF1B Gene

ENSEMBL:
Gene Tree for TNFRSF1B (if available)
TreeFam:
Gene Tree for TNFRSF1B (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TNFRSF1B: view image

Paralogs for TNFRSF1B Gene

(3) SIMAP similar genes for TNFRSF1B Gene using alignment to 2 proteins:

  • TNR1B_HUMAN
  • Q8IVS6_HUMAN
genes like me logo Genes that share paralogs with TNFRSF1B: view

Variants for TNFRSF1B Gene

Sequence variations from dbSNP and Humsavar for TNFRSF1B Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000021009 -- 12,169,090(+) G/A intron_variant
rs1000128688 -- 12,188,559(+) A/C intron_variant
rs1000211263 -- 12,206,381(+) A/G genic_downstream_transcript_variant, intron_variant
rs1000319007 -- 12,199,838(+) G/A genic_downstream_transcript_variant, intron_variant
rs1000414082 -- 12,199,513(+) C/G genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for TNFRSF1B Gene

Variant ID Type Subtype PubMed ID
dgv112n54 CNV loss 21841781
dgv113n54 CNV loss 21841781
esv3584475 CNV gain 24956385
nsv1145321 CNV deletion 24896259
nsv469830 CNV loss 16826518
nsv471622 CNV gain+loss 15918152
nsv508891 CNV insertion 20534489
nsv527024 CNV loss 19592680
nsv545437 CNV loss 21841781

Variation tolerance for TNFRSF1B Gene

Residual Variation Intolerance Score: 67.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.95; 79.83% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TNFRSF1B Gene

Human Gene Mutation Database (HGMD)
TNFRSF1B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TNFRSF1B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TNFRSF1B Gene

Disorders for TNFRSF1B Gene

MalaCards: The human disease database

(68) MalaCards diseases for TNFRSF1B Gene - From: HGMD, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
mycosis fungoides
  • mycosis fungoides lymphoma
sezary's disease
  • sezary disease
juvenile rheumatoid arthritis
  • rheumatoid arthritis, systemic juvenile
orbital plasma cell granuloma
  • orbital myositis
esophageal tuberculosis
  • tuberculosis of esophagus
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for TNFRSF1B

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with TNFRSF1B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TNFRSF1B Gene

Publications for TNFRSF1B Gene

  1. Comment: the methionine 196 arginine polymorphism in exon 6 of the TNF receptor 2 gene (TNFRSF1B) is associated with the polycystic ovary syndrome and hyperandrogenism. (PMID: 12161545) Peral B … Escobar-Morreale HF (The Journal of clinical endocrinology and metabolism 2002) 3 4 23 43 56
  2. Association of tumor necrosis factor receptor type II polymorphism 196R with Systemic lupus erythematosus in the Japanese: molecular and functional analysis. (PMID: 11762942) Morita C … Niho Y (Arthritis and rheumatism 2001) 3 4 23 43 56
  3. New single nucleotide polymorphisms in the coding region of human TNFR2: association with systemic lupus erythematosus. (PMID: 11197692) Tsuchiya N … Tokunaga K (Genes and immunity 2000) 3 4 23 43 56
  4. Single nucleotide polymorphisms in TNF-alpha, TNFR2 gene and TNF-alpha production in Asian Indians. (PMID: 19811435) Gupta R … Das SN (Immunological investigations 2009) 3 23 43 56
  5. Possible association of tumor necrosis factor receptor 2 gene polymorphism with severe hypertension using the extreme discordant phenotype design. (PMID: 19557004) Eguchi T … Saruta T (Hypertension research : official journal of the Japanese Society of Hypertension 2009) 3 23 43 56

Products for TNFRSF1B Gene