Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 3572
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol IL6ST   Gene   UCSC   Ensembl
Aliases CD130, CDW130, GP130, IL-6RB
Gene name interleukin 6 signal transducer
Alternate names interleukin-6 receptor subunit beta, CD130 antigen, IL-6 receptor subunit beta, IL-6R subunit beta, gp130 of the rheumatoid arthritis antigenic peptide-bearing soluble form, gp130, oncostatin M receptor, interleukin receptor beta chain, membrane glycoprotein 130,
Gene location 5q11.2 (55994992: 55935094)     Exons: 19     NC_000005.10
Gene summary(Entrez) The protein encoded by this gene is a signal transducer shared by many cytokines, including interleukin 6 (IL6), ciliary neurotrophic factor (CNTF), leukemia inhibitory factor (LIF), and oncostatin M (OSM). This protein functions as a part of the cytokine receptor complex. The activation of this protein is dependent upon the binding of cytokines to their receptors. vIL6, a protein related to IL6 and encoded by the Kaposi sarcoma-associated herpesvirus, can bypass the interleukin 6 receptor (IL6R) and directly activate this protein. Knockout studies in mice suggest that this gene plays a critical role in regulating myocyte apoptosis. Alternatively spliced transcript variants have been described. A related pseudogene has been identified on chromosome 17. [provided by RefSeq, May 2014]
OMIM 600694

Protein Summary

Protein general information P40189  

Name: Interleukin 6 receptor subunit beta (IL 6 receptor subunit beta) (IL 6R subunit beta) (IL 6R beta) (IL 6RB) (CDw130) (Interleukin 6 signal transducer) (Membrane glycoprotein 130) (gp130) (Oncostatin M receptor subunit alpha) (CD antigen CD130)

Length: 918  Mass: 103,537

Tissue specificity: Found in all the tissues and cell lines examined (PubMed

Sequence MLTLQTWLVQALFIFLTTESTGELLDPCGYISPESPVVQLHSNFTAVCVLKEKCMDYFHVNANYIVWKTNHFTIP
KEQYTIINRTASSVTFTDIASLNIQLTCNILTFGQLEQNVYGITIISGLPPEKPKNLSCIVNEGKKMRCEWDGGR
ETHLETNFTLKSEWATHKFADCKAKRDTPTSCTVDYSTVYFVNIEVWVEAENALGKVTSDHINFDPVYKVKPNPP
HNLSVINSEELSSILKLTWTNPSIKSVIILKYNIQYRTKDASTWSQIPPEDTASTRSSFTVQDLKPFTEYVFRIR
CMKEDGKGYWSDWSEEASGITYEDRPSKAPSFWYKIDPSHTQGYRTVQLVWKTLPPFEANGKILDYEVTLTRWKS
HLQNYTVNATKLTVNLTNDRYLATLTVRNLVGKSDAAVLTIPACDFQATHPVMDLKAFPKDNMLWVEWTTPRESV
KKYILEWCVLSDKAPCITDWQQEDGTVHRTYLRGNLAESKCYLITVTPVYADGPGSPESIKAYLKQAPPSKGPTV
RTKKVGKNEAVLEWDQLPVDVQNGFIRNYTIFYRTIIGNETAVNVDSSHTEYTLSSLTSDTLYMVRMAAYTDEGG
KDGPEFTFTTPKFAQGEIEAIVVPVCLAFLLTTLLGVLFCFNKRDLIKKHIWPNVPDPSKSHIAQWSPHTPPRHN
FNSKDQMYSDGNFTDVSVVEIEANDKKPFPEDLKSLDLFKKEKINTEGHSSGIGGSSCMSSSRPSISSSDENESS
QNTSSTVQYSTVVHSGYRHQVPSVQVFSRSESTQPLLDSEERPEDLQLVDHVDGGDGILPRQQYFKQNCSQHESS
PDISHFERSKQVSSVNEEDFVRLKQQISDHISQSCGSGQMKMFQEVSAADAFGPGTEGQVERFETVGMEAATDEG
MPKSYLPQTVRQGGYMPQ
Structural information
Protein Domains
Ig-like (26-120)
Fibronectin (125-216)
Fibronectin (224-324)
Fibronectin (329-424)

Motifs
WSXWS motif(310-314)
Box 1(651-659)
Interpro:  IPR003961 IPR003529 IPR013783 IPR010457 IPR015321
Prosite:   PS50853 PS01353

Pfam:  
PF00041 PF09240 PF06328
CDD:   cd00063

PDB:  
1BJ8 1BQU 1I1R 1N2Q 1P9M 1PVH 3L5H 3L5I 3L5J
PDBsum:   1BJ8 1BQU 1I1R 1N2Q 1P9M 1PVH 3L5H 3L5I 3L5J

DIP:  
95
MINT:   130473
STRING:   ENSP00000338799;
Other Databases GeneCards:  IL6ST;  Malacards:  IL6ST

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0002675 positive regulation of ac
ute inflammatory response
IC biological_process
GO:0002821 positive regulation of ad
aptive immune response
IC biological_process
GO:0004897 ciliary neurotrophic fact
or receptor activity
IDA molecular_function
GO:0004921 interleukin-11 receptor a
ctivity
IEA molecular_function
GO:0005127 ciliary neurotrophic fact
or receptor 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:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005576 extracellular region
TAS 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: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:0005896 interleukin-6 receptor co
mplex
IDA cellular_component
GO:0005900 oncostatin-M receptor com
plex
IDA cellular_component
GO:0005977 glycogen metabolic proces
s
IEA biological_process
GO:0008284 positive regulation of ce
ll proliferation
IDA biological_process
GO:0008284 positive regulation of ce
ll proliferation
IGI biological_process
GO:0008593 regulation of Notch signa
ling pathway
IEA biological_process
GO:0009897 external side of plasma m
embrane
IEA cellular_component
GO:0010575 positive regulation of va
scular endothelial growth
factor production
TAS biological_process
GO:0010613 positive regulation of ca
rdiac muscle hypertrophy
TAS biological_process
GO:0016020 membrane
IDA cellular_component
GO:0016032 viral process
IEA biological_process
GO:0019221 cytokine-mediated signali
ng pathway
IDA biological_process
GO:0019838 growth factor binding
IPI molecular_function
GO:0019970 interleukin-11 binding
IEA molecular_function
GO:0030425 dendrite
IEA cellular_component
GO:0034097 response to cytokine
IDA biological_process
GO:0034097 response to cytokine
IDA biological_process
GO:0038154 interleukin-11-mediated s
ignaling pathway
IEA biological_process
GO:0038165 oncostatin-M-mediated sig
naling pathway
IMP biological_process
GO:0042102 positive regulation of T
cell proliferation
IMP biological_process
GO:0042511 positive regulation of ty
rosine phosphorylation of
Stat1 protein
IMP biological_process
GO:0042517 positive regulation of ty
rosine phosphorylation of
Stat3 protein
IMP biological_process
GO:0042803 protein homodimerization
activity
TAS molecular_function
GO:0043025 neuronal cell body
IEA cellular_component
GO:0043066 negative regulation of ap
optotic process
TAS biological_process
GO:0045509 interleukin-27 receptor a
ctivity
IC molecular_function
GO:0045669 positive regulation of os
teoblast differentiation
IMP biological_process
GO:0048711 positive regulation of as
trocyte differentiation
IEA biological_process
GO:0048861 leukemia inhibitory facto
r signaling pathway
IDA biological_process
GO:0048861 leukemia inhibitory facto
r signaling pathway
IDA biological_process
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070102 interleukin-6-mediated si
gnaling pathway
IMP biological_process
GO:0070102 interleukin-6-mediated si
gnaling pathway
IMP biological_process
GO:0070104 negative regulation of in
terleukin-6-mediated sign
aling pathway
IDA biological_process
GO:0070106 interleukin-27-mediated s
ignaling pathway
IMP biological_process
GO:0070110 ciliary neurotrophic fact
or receptor complex
IDA cellular_component
GO:0070120 ciliary neurotrophic fact
or-mediated signaling pat
hway
IDA biological_process
GO:0004915 interleukin-6 receptor ac
tivity
IDA molecular_function
GO:0004915 interleukin-6 receptor ac
tivity
IDA molecular_function
GO:0004923 leukemia inhibitory facto
r receptor activity
IDA molecular_function
GO:0004923 leukemia inhibitory facto
r receptor activity
IDA molecular_function
GO:0004924 oncostatin-M receptor act
ivity
IDA molecular_function
GO:0005138 interleukin-6 receptor bi
nding
IPI molecular_function
GO:0019838 growth factor binding
IPI molecular_function
GO:0019981 interleukin-6 binding
IPI molecular_function
GO:0002675 positive regulation of ac
ute inflammatory response
IC biological_process
GO:0002821 positive regulation of ad
aptive immune response
IC biological_process
GO:0004896 cytokine receptor activit
y
IEA molecular_function
GO:0004897 ciliary neurotrophic fact
or receptor activity
IDA molecular_function
GO:0004921 interleukin-11 receptor a
ctivity
IEA molecular_function
GO:0005127 ciliary neurotrophic fact
or receptor 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: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
TAS cellular_component
GO:0005615 extracellular space
IDA 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: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:0005896 interleukin-6 receptor co
mplex
IDA cellular_component
GO:0005900 oncostatin-M receptor com
plex
IDA cellular_component
GO:0005977 glycogen metabolic proces
s
IEA biological_process
GO:0007165 signal transduction
IEA biological_process
GO:0008284 positive regulation of ce
ll proliferation
IEA biological_process
GO:0008284 positive regulation of ce
ll proliferation
IDA biological_process
GO:0008284 positive regulation of ce
ll proliferation
IGI biological_process
GO:0008593 regulation of Notch signa
ling pathway
IEA biological_process
GO:0009897 external side of plasma m
embrane
IEA cellular_component
GO:0010575 positive regulation of va
scular endothelial growth
factor production
TAS biological_process
GO:0010613 positive regulation of ca
rdiac muscle hypertrophy
TAS biological_process
GO:0016020 membrane
IEA cellular_component
GO:0016020 membrane
IEA cellular_component
GO:0016020 membrane
IDA cellular_component
GO:0016021 integral component of mem
brane
IEA cellular_component
GO:0016032 viral process
IEA biological_process
GO:0019221 cytokine-mediated signali
ng pathway
IEA biological_process
GO:0019221 cytokine-mediated signali
ng pathway
IDA biological_process
GO:0019838 growth factor binding
IPI molecular_function
GO:0019970 interleukin-11 binding
IEA molecular_function
GO:0030425 dendrite
IEA cellular_component
GO:0034097 response to cytokine
IDA biological_process
GO:0034097 response to cytokine
IDA biological_process
GO:0038154 interleukin-11-mediated s
ignaling pathway
IEA biological_process
GO:0038165 oncostatin-M-mediated sig
naling pathway
IMP biological_process
GO:0042102 positive regulation of T
cell proliferation
IMP biological_process
GO:0042511 positive regulation of ty
rosine phosphorylation of
Stat1 protein
IMP biological_process
GO:0042517 positive regulation of ty
rosine phosphorylation of
Stat3 protein
IMP biological_process
GO:0042803 protein homodimerization
activity
TAS molecular_function
GO:0043025 neuronal cell body
IEA cellular_component
GO:0043066 negative regulation of ap
optotic process
TAS biological_process
GO:0044297 cell body
IEA cellular_component
GO:0045509 interleukin-27 receptor a
ctivity
IC molecular_function
GO:0045669 positive regulation of os
teoblast differentiation
IMP biological_process
GO:0048711 positive regulation of as
trocyte differentiation
IEA biological_process
GO:0048861 leukemia inhibitory facto
r signaling pathway
IDA biological_process
GO:0048861 leukemia inhibitory facto
r signaling pathway
IDA biological_process
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070102 interleukin-6-mediated si
gnaling pathway
IMP biological_process
GO:0070102 interleukin-6-mediated si
gnaling pathway
IMP biological_process
GO:0070104 negative regulation of in
terleukin-6-mediated sign
aling pathway
IDA biological_process
GO:0070106 interleukin-27-mediated s
ignaling pathway
IMP biological_process
GO:0070110 ciliary neurotrophic fact
or receptor complex
IDA cellular_component
GO:0070120 ciliary neurotrophic fact
or-mediated signaling pat
hway
IDA biological_process
GO:0004915 interleukin-6 receptor ac
tivity
IDA molecular_function
GO:0004915 interleukin-6 receptor ac
tivity
IDA molecular_function
GO:0004923 leukemia inhibitory facto
r receptor activity
IDA molecular_function
GO:0004923 leukemia inhibitory facto
r receptor activity
IDA molecular_function
GO:0004924 oncostatin-M receptor act
ivity
IDA molecular_function
GO:0005138 interleukin-6 receptor bi
nding
IPI molecular_function
GO:0019838 growth factor binding
IPI molecular_function
GO:0019981 interleukin-6 binding
IPI molecular_function
GO:0002675 positive regulation of ac
ute inflammatory response
IC biological_process
GO:0002821 positive regulation of ad
aptive immune response
IC biological_process
GO:0004897 ciliary neurotrophic fact
or receptor activity
IDA molecular_function
GO:0005127 ciliary neurotrophic fact
or receptor 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:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005576 extracellular region
TAS 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: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:0005896 interleukin-6 receptor co
mplex
IDA cellular_component
GO:0005900 oncostatin-M receptor com
plex
IDA cellular_component
GO:0008284 positive regulation of ce
ll proliferation
IDA biological_process
GO:0008284 positive regulation of ce
ll proliferation
IGI biological_process
GO:0010575 positive regulation of va
scular endothelial growth
factor production
TAS biological_process
GO:0010613 positive regulation of ca
rdiac muscle hypertrophy
TAS biological_process
GO:0016020 membrane
IDA cellular_component
GO:0019221 cytokine-mediated signali
ng pathway
IDA biological_process
GO:0019838 growth factor binding
IPI molecular_function
GO:0034097 response to cytokine
IDA biological_process
GO:0034097 response to cytokine
IDA biological_process
GO:0038165 oncostatin-M-mediated sig
naling pathway
IMP biological_process
GO:0042102 positive regulation of T
cell proliferation
IMP biological_process
GO:0042511 positive regulation of ty
rosine phosphorylation of
Stat1 protein
IMP biological_process
GO:0042517 positive regulation of ty
rosine phosphorylation of
Stat3 protein
IMP biological_process
GO:0042803 protein homodimerization
activity
TAS molecular_function
GO:0043066 negative regulation of ap
optotic process
TAS biological_process
GO:0045509 interleukin-27 receptor a
ctivity
IC molecular_function
GO:0045669 positive regulation of os
teoblast differentiation
IMP biological_process
GO:0048861 leukemia inhibitory facto
r signaling pathway
IDA biological_process
GO:0048861 leukemia inhibitory facto
r signaling pathway
IDA biological_process
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070102 interleukin-6-mediated si
gnaling pathway
IMP biological_process
GO:0070102 interleukin-6-mediated si
gnaling pathway
IMP biological_process
GO:0070104 negative regulation of in
terleukin-6-mediated sign
aling pathway
IDA biological_process
GO:0070106 interleukin-27-mediated s
ignaling pathway
IMP biological_process
GO:0070110 ciliary neurotrophic fact
or receptor complex
IDA cellular_component
GO:0070120 ciliary neurotrophic fact
or-mediated signaling pat
hway
IDA biological_process
GO:0004915 interleukin-6 receptor ac
tivity
IDA molecular_function
GO:0004915 interleukin-6 receptor ac
tivity
IDA molecular_function
GO:0004923 leukemia inhibitory facto
r receptor activity
IDA molecular_function
GO:0004923 leukemia inhibitory facto
r receptor activity
IDA molecular_function
GO:0004924 oncostatin-M receptor act
ivity
IDA molecular_function
GO:0005138 interleukin-6 receptor bi
nding
IPI molecular_function
GO:0019838 growth factor binding
IPI molecular_function
GO:0019981 interleukin-6 binding
IPI molecular_function

KEGG pathways

hsa04060  Cytokine-cytokine receptor interaction
hsa05167  Kaposi's sarcoma-associated herpesvirus infection
hsa04630  Jak-STAT signaling pathway
hsa05203  Viral carcinogenesis
hsa04659  Th17 cell differentiation
hsa04550  Signaling pathways regulating pluripotency of stem cells

Diseases

Associated diseases References
Asthenozoospermia PMID: 16728717
Celiac disease PMID: 19240061
Coronary disease PMID: 19336475
Endometriosis PMID: 25631342
Obesity PMID: 12917504
Periodontitis PMID: 15081423
Female infertility INFBASE25631342
Endometriosis INFBASE18353903
Polycystic ovary syndrome (PCOS) PMID: 20103703
Primary unexplained infertility PMID: 12161539

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
25631342 Endometrio
sis

89 (65 women in
vestigated for
secondary infer
tility, 23 cont
rols)
Female infertility IL-1A
IL-6
LIF
LIFR and gp130
Show abstract
18353903 Endometrio
sis

16 (10 patients
with laparosco
pically proven
endometriosis (
minimal/mild n
= 5 and moderat
e/severe n = 5)
, 6 controls)
PCDH17
PTPRR
IL6ST
Show abstract