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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 accession	Term name	Evidence code	Go 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	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