Endometriosis Knowledgebase

Search Result

Gene id

3570

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

IL6R Gene UCSC Ensembl

Aliases

CD126, IL-6R-1, IL-6RA, IL6Q, IL6RA, IL6RQ, gp80

Gene name

interleukin 6 receptor

Alternate names

interleukin-6 receptor subunit alpha, CD126 antigen, IL-6 receptor subunit alpha, IL-6R 1, membrane glycoprotein 80,

Gene location

1q21.3 (154405192: 154469449) Exons: 13 NC_000001.11

Gene summary(Entrez)

This gene encodes a subunit of the interleukin 6 (IL6) receptor complex. Interleukin 6 is a potent pleiotropic cytokine that regulates cell growth and differentiation and plays an important role in the immune response. The IL6 receptor is a protein complex consisting of this protein and interleukin 6 signal transducer (IL6ST/GP130/IL6-beta), a receptor subunit also shared by many other cytokines. Dysregulated production of IL6 and this receptor are implicated in the pathogenesis of many diseases, such as multiple myeloma, autoimmune diseases and prostate cancer. Alternatively spliced transcript variants encoding distinct isoforms have been reported. A pseudogene of this gene is found on chromosome 9.[provided by RefSeq, May 2011]

OMIM

147880

Protein Summary

Protein general information

P08887

Name: Interleukin 6 receptor subunit alpha (IL 6 receptor subunit alpha) (IL 6R subunit alpha) (IL 6R alpha) (IL 6RA) (IL 6R 1) (Membrane glycoprotein 80) (gp80) (CD antigen CD126)

Length: 468 Mass: 51,548

Tissue specificity: Isoform 2 is expressed in peripheral blood mononuclear cells and weakly found in urine and serum.

Sequence

MLAVGCALLAALLAAPGAALAPRRCPAQEVARGVLTSLPGDSVTLTCPGVEPEDNATVHWVLRKPAAGSHPSRWA
GMGRRLLLRSVQLHDSGNYSCYRAGRPAGTVHLLVDVPPEEPQLSCFRKSPLSNVVCEWGPRSTPSLTTKAVLLV
RKFQNSPAEDFQEPCQYSQESQKFSCQLAVPEGDSSFYIVSMCVASSVGSKFSKTQTFQGCGILQPDPPANITVT
AVARNPRWLSVTWQDPHSWNSSFYRLRFELRYRAERSKTFTTWMVKDLQHHCVIHDAWSGLRHVVQLRAQEEFGQ
GEWSEWSPEAMGTPWTESRSPPAENEVSTPMQALTTNKDDDNILFRDSANATSLPVQDSSSVPLPTFLVAGGSLA
FGTLLCIAIVLRFKKTWKLRALKEGKTSMHPPYSLGQLVPERPRPTPVLVPLISPPVSPSSLGSDNTSSHNRPDA
RDPRSPYDISNTDYFFPR

Structural information

Protein Domains	Ig-like (26-112) Fibronectin (113-217) Fibronectin (218-316)
Motifs	WSXWS motif.(303-307)
Interpro:	IPR003961 IPR003530 IPR007110 IPR013783 IPR003599 IPR003598 IPR013151 IPR015321
Prosite:	PS50853 PS01354 PS50835
Pfam:	PF00047 PF09240
CDD:	cd00063
PDB:	1N26 1N2Q 1P9M 2ARW 5FUC
PDBsum:	1N26 1N2Q 1P9M 2ARW 5FUC
DIP:	162 3777
MINT:	190110
STRING:	ENSP00000357470;

Other Databases

GeneCards: IL6R; Malacards: IL6R

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0002384	hepatic immune response	TAS	biological_process
GO:0002446	neutrophil mediated immun ity	TAS	biological_process
GO:0002548	monocyte chemotaxis	IC	biological_process
GO:0002690	positive regulation of le ukocyte chemotaxis	TAS	biological_process
GO:0002690	positive regulation of le ukocyte chemotaxis	TAS	biological_process
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	IDA	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005615	extracellular space	IDA	cellular_component
GO:0005615	extracellular space	IDA	cellular_component
GO:0005615	extracellular space	IDA	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: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:0005896	interleukin-6 receptor co mplex	IDA	cellular_component
GO:0005896	interleukin-6 receptor co mplex	IDA	cellular_component
GO:0006953	acute-phase response	TAS	biological_process
GO:0008284	positive regulation of ce ll proliferation	IMP	biological_process
GO:0008284	positive regulation of ce ll proliferation	IDA	biological_process
GO:0009986	cell surface	IEA	cellular_component
GO:0010536	positive regulation of ac tivation of Janus kinase activity	IDA	biological_process
GO:0016323	basolateral plasma membra ne	IEA	cellular_component
GO:0016324	apical plasma membrane	IDA	cellular_component
GO:0019221	cytokine-mediated signali ng pathway	IDA	biological_process
GO:0019899	enzyme binding	IPI	molecular_function
GO:0019981	interleukin-6 binding	IPI	molecular_function
GO:0031018	endocrine pancreas develo pment	IC	biological_process
GO:0031018	endocrine pancreas develo pment	IMP	biological_process
GO:0032717	negative regulation of in terleukin-8 production	NAS	biological_process
GO:0032722	positive regulation of ch emokine production	IDA	biological_process
GO:0032755	positive regulation of in terleukin-6 production	IDA	biological_process
GO:0032966	negative regulation of co llagen biosynthetic proce ss	IDA	biological_process
GO:0034097	response to cytokine	IDA	biological_process
GO:0042517	positive regulation of ty rosine phosphorylation of Stat3 protein	IMP	biological_process
GO:0042803	protein homodimerization activity	IPI	molecular_function
GO:0043410	positive regulation of MA PK cascade	IDA	biological_process
GO:0045669	positive regulation of os teoblast differentiation	TAS	biological_process
GO:0048661	positive regulation of sm ooth muscle cell prolifer ation	IDA	biological_process
GO:0050731	positive regulation of pe ptidyl-tyrosine phosphory lation	IDA	biological_process
GO:0050829	defense response to Gram- negative bacterium	TAS	biological_process
GO:0050830	defense response to Gram- positive bacterium	NAS	biological_process
GO:0070102	interleukin-6-mediated si gnaling pathway	IMP	biological_process
GO:0070110	ciliary neurotrophic fact or receptor complex	IDA	cellular_component
GO:0070119	ciliary neurotrophic fact or binding	IPI	molecular_function
GO:0070120	ciliary neurotrophic fact or-mediated signaling pat hway	IMP	biological_process
GO:0097191	extrinsic apoptotic signa ling pathway	TAS	biological_process
GO:0051092	positive regulation of NF -kappaB transcription fac tor activity	IDA	biological_process
GO:0004897	ciliary neurotrophic fact or receptor activity	IMP	molecular_function
GO:0004915	interleukin-6 receptor ac tivity	IDA	molecular_function
GO:0005138	interleukin-6 receptor bi nding	IPI	molecular_function
GO:0002384	hepatic immune response	TAS	biological_process
GO:0002446	neutrophil mediated immun ity	TAS	biological_process
GO:0002548	monocyte chemotaxis	IC	biological_process
GO:0002690	positive regulation of le ukocyte chemotaxis	TAS	biological_process
GO:0002690	positive regulation of le ukocyte chemotaxis	TAS	biological_process
GO:0004896	cytokine receptor activit y	IEA	molecular_function
GO:0004915	interleukin-6 receptor ac tivity	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:0005576	extracellular region	IEA	cellular_component
GO:0005576	extracellular region	IEA	cellular_component
GO:0005576	extracellular region	IDA	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005615	extracellular space	IDA	cellular_component
GO:0005615	extracellular space	IDA	cellular_component
GO:0005615	extracellular space	IDA	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: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:0005896	interleukin-6 receptor co mplex	IDA	cellular_component
GO:0005896	interleukin-6 receptor co mplex	IDA	cellular_component
GO:0006953	acute-phase response	TAS	biological_process
GO:0008284	positive regulation of ce ll proliferation	IMP	biological_process
GO:0008284	positive regulation of ce ll proliferation	IDA	biological_process
GO:0009986	cell surface	IEA	cellular_component
GO:0010536	positive regulation of ac tivation of Janus kinase activity	IDA	biological_process
GO:0016020	membrane	IEA	cellular_component
GO:0016020	membrane	IEA	cellular_component
GO:0016021	integral component of mem brane	IEA	cellular_component
GO:0016323	basolateral plasma membra ne	IEA	cellular_component
GO:0016324	apical plasma membrane	IDA	cellular_component
GO:0019221	cytokine-mediated signali ng pathway	IDA	biological_process
GO:0019899	enzyme binding	IPI	molecular_function
GO:0019981	interleukin-6 binding	IEA	molecular_function
GO:0019981	interleukin-6 binding	IPI	molecular_function
GO:0031018	endocrine pancreas develo pment	IC	biological_process
GO:0031018	endocrine pancreas develo pment	IMP	biological_process
GO:0032717	negative regulation of in terleukin-8 production	NAS	biological_process
GO:0032722	positive regulation of ch emokine production	IDA	biological_process
GO:0032755	positive regulation of in terleukin-6 production	IDA	biological_process
GO:0032966	negative regulation of co llagen biosynthetic proce ss	IDA	biological_process
GO:0034097	response to cytokine	IDA	biological_process
GO:0042517	positive regulation of ty rosine phosphorylation of Stat3 protein	IMP	biological_process
GO:0042803	protein homodimerization activity	IPI	molecular_function
GO:0043410	positive regulation of MA PK cascade	IDA	biological_process
GO:0045669	positive regulation of os teoblast differentiation	TAS	biological_process
GO:0048661	positive regulation of sm ooth muscle cell prolifer ation	IDA	biological_process
GO:0050731	positive regulation of pe ptidyl-tyrosine phosphory lation	IDA	biological_process
GO:0050829	defense response to Gram- negative bacterium	TAS	biological_process
GO:0050830	defense response to Gram- positive bacterium	NAS	biological_process
GO:0070102	interleukin-6-mediated si gnaling pathway	IEA	biological_process
GO:0070102	interleukin-6-mediated si gnaling pathway	IMP	biological_process
GO:0070110	ciliary neurotrophic fact or receptor complex	IDA	cellular_component
GO:0070119	ciliary neurotrophic fact or binding	IPI	molecular_function
GO:0070120	ciliary neurotrophic fact or-mediated signaling pat hway	IMP	biological_process
GO:0097191	extrinsic apoptotic signa ling pathway	TAS	biological_process
GO:0051092	positive regulation of NF -kappaB transcription fac tor activity	IDA	biological_process
GO:0004897	ciliary neurotrophic fact or receptor activity	IMP	molecular_function
GO:0004915	interleukin-6 receptor ac tivity	IDA	molecular_function
GO:0005138	interleukin-6 receptor bi nding	IPI	molecular_function
GO:0002384	hepatic immune response	TAS	biological_process
GO:0002446	neutrophil mediated immun ity	TAS	biological_process
GO:0002548	monocyte chemotaxis	IC	biological_process
GO:0002690	positive regulation of le ukocyte chemotaxis	TAS	biological_process
GO:0002690	positive regulation of le ukocyte chemotaxis	TAS	biological_process
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	IDA	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005615	extracellular space	IDA	cellular_component
GO:0005615	extracellular space	IDA	cellular_component
GO:0005615	extracellular space	IDA	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: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:0005896	interleukin-6 receptor co mplex	IDA	cellular_component
GO:0005896	interleukin-6 receptor co mplex	IDA	cellular_component
GO:0006953	acute-phase response	TAS	biological_process
GO:0008284	positive regulation of ce ll proliferation	IMP	biological_process
GO:0008284	positive regulation of ce ll proliferation	IDA	biological_process
GO:0010536	positive regulation of ac tivation of Janus kinase activity	IDA	biological_process
GO:0016324	apical plasma membrane	IDA	cellular_component
GO:0019221	cytokine-mediated signali ng pathway	IDA	biological_process
GO:0019899	enzyme binding	IPI	molecular_function
GO:0019981	interleukin-6 binding	IPI	molecular_function
GO:0031018	endocrine pancreas develo pment	IC	biological_process
GO:0031018	endocrine pancreas develo pment	IMP	biological_process
GO:0032717	negative regulation of in terleukin-8 production	NAS	biological_process
GO:0032722	positive regulation of ch emokine production	IDA	biological_process
GO:0032755	positive regulation of in terleukin-6 production	IDA	biological_process
GO:0032966	negative regulation of co llagen biosynthetic proce ss	IDA	biological_process
GO:0034097	response to cytokine	IDA	biological_process
GO:0042517	positive regulation of ty rosine phosphorylation of Stat3 protein	IMP	biological_process
GO:0042803	protein homodimerization activity	IPI	molecular_function
GO:0043410	positive regulation of MA PK cascade	IDA	biological_process
GO:0045669	positive regulation of os teoblast differentiation	TAS	biological_process
GO:0048661	positive regulation of sm ooth muscle cell prolifer ation	IDA	biological_process
GO:0050731	positive regulation of pe ptidyl-tyrosine phosphory lation	IDA	biological_process
GO:0050829	defense response to Gram- negative bacterium	TAS	biological_process
GO:0050830	defense response to Gram- positive bacterium	NAS	biological_process
GO:0070102	interleukin-6-mediated si gnaling pathway	IMP	biological_process
GO:0070110	ciliary neurotrophic fact or receptor complex	IDA	cellular_component
GO:0070119	ciliary neurotrophic fact or binding	IPI	molecular_function
GO:0070120	ciliary neurotrophic fact or-mediated signaling pat hway	IMP	biological_process
GO:0097191	extrinsic apoptotic signa ling pathway	TAS	biological_process
GO:0051092	positive regulation of NF -kappaB transcription fac tor activity	IDA	biological_process
GO:0004897	ciliary neurotrophic fact or receptor activity	IMP	molecular_function
GO:0004915	interleukin-6 receptor ac tivity	IDA	molecular_function
GO:0005138	interleukin-6 receptor bi nding	IPI	molecular_function

KEGG pathways

hsa04151  PI3K-Akt signaling pathway
hsa04060  Cytokine-cytokine receptor interaction
hsa04630  Jak-STAT signaling pathway
hsa04659  Th17 cell differentiation
hsa01521  EGFR tyrosine kinase inhibitor resistance
hsa04932  Non-alcoholic fatty liver disease
hsa04066  HIF-1 signaling pathway
hsa04640  Hematopoietic cell lineage

Diseases

Associated diseases	References
Alzheimer's disease	PMID: 19141999
Asthenozoospermia	PMID: 16728717
Asthma	PMID: 19503017
Behcet's disease	PMID: 19026125
Chronic obstructive pulmonary disease (COPD)	PMID: 19625176
Coronary disease	PMID: 19336475
Diabetes	PMID: 20017315
Endometriosis	PMID: 15166129
Hyperandrogenism	PMID: 10372707
Male infertility	PMID: 9262280
Metabolic syndrome	PMID: 16817825
Obesity	PMID: 12917504
Periodontitis	PMID: 16899024
Polycystic ovary syndrome (PCOS)	PMID: 24423322
Endometriosis	INFBASE8653926
Premature birth	PMID: 18538149
Preterm delivery	PMID: 16731080
Primary unexplained�infertility	PMID: 12161539
Rheumatoid arthritis	PMID: 19926672
Schizophrenia	PMID: 19914334

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
8653926	Endometrio sis			64 (29 patients with endometri osis, 31 patien ts with benign ovarian masses, 4 patients wit h chronic infla mmation or adhe sions)		IL-6 sIL-6R	Show abstract