Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 7133
Gene Summary     SNPs    Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol TNFRSF1B   Gene   UCSC   Ensembl
Aliases CD120b, TBPII, TNF-R-II, TNF-R75, TNFBR, TNFR1B, TNFR2, TNFR80, p75, p75TNFR
Gene name TNF receptor superfamily member 1B
Alternate names tumor necrosis factor receptor superfamily member 1B, TNF-R2, TNF-RII, p75 TNF receptor, p80 TNF-alpha receptor, soluble TNFR1B variant 1, tumor necrosis factor beta receptor, tumor necrosis factor binding protein 2, tumor necrosis factor receptor 2, tumor necrosi,
Gene location 1p36.22 (12166947: 12209221)     Exons: 14     NC_000001.11
Gene summary(Entrez) 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]
OMIM 191191

SNPs

rs1061622

Strand:    Allele origin:   Allele change: G/T   Mutation type: snp

CM000663.2   g.12192898T>G
NC_000001.10   g.12252955T>G
NC_000001.11   g.12192898T>G
NG_029791.1   g.30896T>G
NM_001066.2   c.587T>G
NP_001057.1   p.Met196Arg
XP_011540362.1   p.Met196Arg
XP_011540365.1   p.Met196Arg
XP_016857700.1   p.Met196Arg
XP_016857701.1   p.Met145Arg
XP_016857702.1   p.Met145Arg
XP_016857703.1   p.Met1Arg
XP_016857704.1   p.Met1Arg
XR_244793.1   n.692T>G

Protein Summary

Protein general information P20333  

Name: Tumor necrosis factor receptor superfamily member 1B (Tumor necrosis factor receptor 2) (TNF R2) (Tumor necrosis factor receptor type II) (TNF RII) (TNFR II) (p75) (p80 TNF alpha receptor) (CD antigen CD120b) (Etanercept) [Cleaved into: Tumor necrosis fac

Length: 461  Mass: 48,291

Sequence MAPVAVWAALAVGLELWAAAHALPAQVAFTPYAPEPGSTCRLREYYDQTAQMCCSKCSPGQHAKVFCTKTSDTVC
DSCEDSTYTQLWNWVPECLSCGSRCSSDQVETQACTREQNRICTCRPGWYCALSKQEGCRLCAPLRKCRPGFGVA
RPGTETSDVVCKPCAPGTFSNTTSSTDICRPHQICNVVAIPGNASMDAVCTSTSPTRSMAPGAVHLPQPVSTRSQ
HTQPTPEPSTAPSTSFLLPMGPSPPAEGSTGDFALPVGLIVGVTALGLLIIGVVNCVIMTQVKKKPLCLQREAKV
PHLPADKARGTQGPEQQHLLITAPSSSSSSLESSASALDRRAPTRNQPQAPGVEASGAGEARASTGSSDSSPGGH
GTQVNVTCIVNVCSSSDHSSQCSSQASSTMGDTDSSPSESPKDEQVPFSKEECAFRSQLETPETLLGSTEEKPLP
LGVPDAGMKPS
Structural information
Interpro:  IPR001368 IPR020411 IPR033996
Prosite:   PS00652 PS50050

Pfam:  
PF00020
CDD:   cd10577

PDB:  
1CA9 3ALQ
PDBsum:   1CA9 3ALQ

DIP:  
78
MINT:   134958
STRING:   ENSP00000365435;
Other Databases GeneCards:  MIR7846;TNFRSF1B;  Malacards:  MIR7846

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0005031 tumor necrosis factor-act
ivated receptor activity
IEA molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005576 extracellular region
IEA cellular_component
GO:0005634 nucleus
IEA cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005887 integral component of pla
sma membrane
IBA cellular_component
GO:0006954 inflammatory response
IBA biological_process
GO:0006955 immune response
IBA biological_process
GO:0007275 multicellular organism de
velopment
IBA biological_process
GO:0007568 aging
IEA biological_process
GO:0008630 intrinsic apoptotic signa
ling pathway in response
to DNA damage
IEA biological_process
GO:0031625 ubiquitin protein ligase
binding
IPI molecular_function
GO:0033209 tumor necrosis factor-med
iated signaling pathway
TAS biological_process
GO:0042127 regulation of cell prolif
eration
IBA biological_process
GO:0042981 regulation of apoptotic p
rocess
IBA biological_process
GO:0043025 neuronal cell body
IEA cellular_component
GO:0043196 varicosity
IEA cellular_component
GO:0043410 positive regulation of MA
PK cascade
IBA biological_process
GO:0045121 membrane raft
IDA cellular_component
GO:0048471 perinuclear region of cyt
oplasm
IEA cellular_component
GO:0050728 negative regulation of in
flammatory response
IEA biological_process
GO:0050779 RNA destabilization
IEA biological_process
GO:0051044 positive regulation of me
mbrane protein ectodomain
proteolysis
IMP biological_process
GO:0071222 cellular response to lipo
polysaccharide
IMP biological_process
GO:0071363 cellular response to grow
th factor stimulus
IEA biological_process
GO:0097190 apoptotic signaling pathw
ay
IBA biological_process
GO:0097191 extrinsic apoptotic signa
ling pathway
IEA biological_process
GO:0005031 tumor necrosis factor-act
ivated receptor activity
IEA molecular_function
GO:0005031 tumor necrosis factor-act
ivated receptor activity
IEA molecular_function
GO:0005031 tumor necrosis factor-act
ivated receptor activity
TAS molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005576 extracellular region
IEA cellular_component
GO:0005576 extracellular region
IEA cellular_component
GO:0005634 nucleus
IEA cellular_component
GO:0005886 plasma membrane
IEA cellular_component
GO:0005886 plasma membrane
IEA cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005887 integral component of pla
sma membrane
IBA cellular_component
GO:0006915 apoptotic process
IEA biological_process
GO:0006954 inflammatory response
IEA biological_process
GO:0006954 inflammatory response
IBA biological_process
GO:0006955 immune response
IEA biological_process
GO:0006955 immune response
IBA biological_process
GO:0007166 cell surface receptor sig
naling pathway
IEA biological_process
GO:0007275 multicellular organism de
velopment
IBA biological_process
GO:0007568 aging
IEA biological_process
GO:0008630 intrinsic apoptotic signa
ling pathway in response
to DNA damage
IEA biological_process
GO:0016020 membrane
IEA cellular_component
GO:0016020 membrane
IEA cellular_component
GO:0016020 membrane
IEA cellular_component
GO:0016021 integral component of mem
brane
IEA cellular_component
GO:0030424 axon
IEA cellular_component
GO:0031625 ubiquitin protein ligase
binding
IPI molecular_function
GO:0032496 response to lipopolysacch
aride
IEA biological_process
GO:0033209 tumor necrosis factor-med
iated signaling pathway
IEA biological_process
GO:0033209 tumor necrosis factor-med
iated signaling pathway
TAS biological_process
GO:0042127 regulation of cell prolif
eration
IBA biological_process
GO:0042981 regulation of apoptotic p
rocess
IBA biological_process
GO:0043025 neuronal cell body
IEA cellular_component
GO:0043196 varicosity
IEA cellular_component
GO:0043410 positive regulation of MA
PK cascade
IBA biological_process
GO:0045121 membrane raft
IEA cellular_component
GO:0045121 membrane raft
IDA cellular_component
GO:0048471 perinuclear region of cyt
oplasm
IEA cellular_component
GO:0050728 negative regulation of in
flammatory response
IEA biological_process
GO:0050779 RNA destabilization
IEA biological_process
GO:0051044 positive regulation of me
mbrane protein ectodomain
proteolysis
IMP biological_process
GO:0071222 cellular response to lipo
polysaccharide
IMP biological_process
GO:0071363 cellular response to grow
th factor stimulus
IEA biological_process
GO:0097190 apoptotic signaling pathw
ay
IBA biological_process
GO:0097191 extrinsic apoptotic signa
ling pathway
IEA biological_process
GO:0005031 tumor necrosis factor-act
ivated receptor activity
TAS molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005887 integral component of pla
sma membrane
IBA cellular_component
GO:0006954 inflammatory response
IBA biological_process
GO:0006955 immune response
IBA biological_process
GO:0007275 multicellular organism de
velopment
IBA biological_process
GO:0031625 ubiquitin protein ligase
binding
IPI molecular_function
GO:0033209 tumor necrosis factor-med
iated signaling pathway
TAS biological_process
GO:0042127 regulation of cell prolif
eration
IBA biological_process
GO:0042981 regulation of apoptotic p
rocess
IBA biological_process
GO:0043410 positive regulation of MA
PK cascade
IBA biological_process
GO:0045121 membrane raft
IDA cellular_component
GO:0051044 positive regulation of me
mbrane protein ectodomain
proteolysis
IMP biological_process
GO:0071222 cellular response to lipo
polysaccharide
IMP biological_process
GO:0097190 apoptotic signaling pathw
ay
IBA biological_process

KEGG pathways

hsa04060  Cytokine-cytokine receptor interaction
hsa04668  TNF signaling pathway
hsa04920  Adipocytokine signaling pathway
hsa05014  Amyotrophic lateral sclerosis

Diseases

Associated diseases References
Alzheimer's disease PMID: 15091317
Anemia PMID: 16142859
Arthritis PMID: 16003175
Behcet's disease PMID: 12770792
Cancer PMID: 18206417
Chronic obstructive pulmonary disease (COPD) PMID: 12661999
Crohn's disease PMID: 11196680
Endometriosis PMID: 19238748
Hyperandrogenism PMID: 12161545
Impaired spermatogenesis PMID: 19527232
Endometriosis INFBASE19238748
Male infertility PMID: 8752625
Multiple sclerosis PMID: 14651520
Myelopathy PMID: 11163081
Myocardial infarction PMID: 17634906
Obesity PMID: 10841005
Osteoarthritis PMID: 16282562
Osteoporosis PMID: 18038243
Periodontitis PMID: 15142217
Polycystic ovary syndrome (PCOS) PMID: 12161545
Preterm delivery PMID: 16731080
Psoriasis PMID: 12011375
Rheumatic diseases PMID: 17763205
Rheumatoid arthritis PMID: 12209506
Schizophrenia PMID: 11126399
Silicosis PMID: 15555301
Systemic lupus erythematosus PMID: 10395102
Systemic sclerosis PMID: 15585313

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
14506926 Endometrio
sis


TNF-RII
Show abstract
11006322 Endometrio
sis

93 (53 women wi
th endometriosi
s, 40 without e
ndometriosis)
TNFR I
TNFR II
Show abstract
19238748 Endometrio
sis
TNF-alpha C((-857)T, C(-863)A and T(-1031)C), TNFR1 (A(36)G. TNFR2 T(676)G, A(1663)G, T(1668)G and C(1690)T) Korean
206 (105 women
with endometrio
sis, 101 women
without endomet
riosis)
TNT-alpha
TNFR2
TNFR
Show abstract
18510047 Endometrio
sis

36 (22 patients
with endometri
osis (stage I a
nd II rAFS), 14
patients with
benign, non-inf
lammatory ovari
an tumors)
TNFR1
TNFR2
Show abstract