Endometriosis Knowledgebase

Search Result

Gene id

3565

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

Gene Summary

Gene Symbol

IL4 Gene UCSC Ensembl

Aliases

BCGF-1, BCGF1, BSF-1, BSF1, IL-4

Gene name

interleukin 4

Alternate names

interleukin-4, B cell growth factor 1, B_cell stimulatory factor 1, binetrakin, interleukin 4 variant 2, lymphocyte stimulatory factor 1, pitrakinra,

Gene location

5q31.1 (132673985: 132682677) Exons: 4 NC_000005.10

Gene summary(Entrez)

The protein encoded by this gene is a pleiotropic cytokine produced by activated T cells. This cytokine is a ligand for interleukin 4 receptor. The interleukin 4 receptor also binds to IL13, which may contribute to many overlapping functions of this cytokine and IL13. STAT6, a signal transducer and activator of transcription, has been shown to play a central role in mediating the immune regulatory signal of this cytokine. This gene, IL3, IL5, IL13, and CSF2 form a cytokine gene cluster on chromosome 5q, with this gene particularly close to IL13. This gene, IL13 and IL5 are found to be regulated coordinately by several long-range regulatory elements in an over 120 kilobase range on the chromosome. Two alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]

OMIM

147780

SNPs

rs2243250

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

CM000667.2   g.132673462C>T
NC_000005.10   g.132673462C>T
NC_000005.9   g.132009154C>T
NG_023252.1   g.4782C>T
NM_000589.3   c.-589C>T
NM_001354990.1   c.-589C>T
NM_172348.2   c.-589C>T

Protein Summary

Protein general information

P05112

Name: Interleukin 4 (IL 4) (B cell stimulatory factor 1) (BSF 1) (Binetrakin) (Lymphocyte stimulatory factor 1) (Pitrakinra)

Length: 153 Mass: 17,492

Sequence

MGLTSQLLPPLFFLLACAGNFVHGHKCDITLQEIIKTLNSLTEQKTLCTELTVTDIFAASKNTTEKETFCRAATV
LRQFYSHHEKDTRCLGATAQQFHRHKQLIRFLKRLDRNLWGLAGLNSCPVKEANQSTLENFLERLKTIMREKYSK
CSS

Structural information

Interpro:	IPR009079 IPR002354 IPR001325 IPR018096
Prosite:	PS00838
Pfam:	PF00727
PDB:	1BBN 1BCN 1CYL 1HIJ 1HIK 1HZI 1IAR 1ILL 1ITE 1ITI 1ITL 1ITM 1RCB 2B8U 2B8X 2B8Y 2B8Z 2B90 2B91 2CYK 2D48 2INT 3BPL 3BPN 3QB7 4YDY 5FHX
PDBsum:	1BBN 1BCN 1CYL 1HIJ 1HIK 1HZI 1IAR 1ILL 1ITE 1ITI 1ITL 1ITM 1RCB 2B8U 2B8X 2B8Y 2B8Z 2B90 2B91 2CYK 2D48 2INT 3BPL 3BPN 3QB7 4YDY 5FHX
DIP:	3222
MINT:	90320
STRING:	ENSP00000231449;

Other Databases

GeneCards: IL4; Malacards: IL4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001774	microglial cell activatio n	IEA	biological_process
GO:0002227	innate immune response in mucosa	IEA	biological_process
GO:0002230	positive regulation of de fense response to virus b y host	IEA	biological_process
GO:0002296	T-helper 1 cell lineage c ommitment	IEA	biological_process
GO:0002674	negative regulation of ac ute inflammatory response	IEA	biological_process
GO:0002677	negative regulation of ch ronic inflammatory respon se	IEA	biological_process
GO:0005125	cytokine activity	IBA	molecular_function
GO:0005136	interleukin-4 receptor bi nding	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:0005615	extracellular space	TAS	cellular_component
GO:0006935	chemotaxis	TAS	biological_process
GO:0006955	immune response	TAS	biological_process
GO:0006968	cellular defense response	TAS	biological_process
GO:0007565	female pregnancy	IEA	biological_process
GO:0007584	response to nutrient	IEA	biological_process
GO:0008083	growth factor activity	NAS	molecular_function
GO:0008203	cholesterol metabolic pro cess	ISS	biological_process
GO:0009897	external side of plasma m embrane	IEA	cellular_component
GO:0010155	regulation of proton tran sport	IEA	biological_process
GO:0010633	negative regulation of ep ithelial cell migration	IDA	biological_process
GO:0014070	response to organic cycli c compound	IEA	biological_process
GO:0030183	B cell differentiation	TAS	biological_process
GO:0030890	positive regulation of B cell proliferation	ISS	biological_process
GO:0031296	B cell costimulation	IEA	biological_process
GO:0032733	positive regulation of in terleukin-10 production	IEA	biological_process
GO:0032736	positive regulation of in terleukin-13 production	IDA	biological_process
GO:0034097	response to cytokine	IEA	biological_process
GO:0035745	T-helper 2 cell cytokine production	IDA	biological_process
GO:0042092	type 2 immune response	TAS	biological_process
GO:0042102	positive regulation of T cell proliferation	ISS	biological_process
GO:0042104	positive regulation of ac tivated T cell proliferat ion	IEA	biological_process
GO:0042325	regulation of phosphoryla tion	ISS	biological_process
GO:0042493	response to drug	IEA	biological_process
GO:0042523	positive regulation of ty rosine phosphorylation of Stat5 protein	IEA	biological_process
GO:0042832	defense response to proto zoan	IEA	biological_process
GO:0043011	myeloid dendritic cell di fferentiation	IDA	biological_process
GO:0043031	negative regulation of ma crophage activation	IEA	biological_process
GO:0043066	negative regulation of ap optotic process	ISS	biological_process
GO:0043306	positive regulation of ma st cell degranulation	IEA	biological_process
GO:0045019	negative regulation of ni tric oxide biosynthetic p rocess	IEA	biological_process
GO:0045064	T-helper 2 cell different iation	IEA	biological_process
GO:0045080	positive regulation of ch emokine biosynthetic proc ess	IEA	biological_process
GO:0045189	connective tissue growth factor biosynthetic proce ss	TAS	biological_process
GO:0045191	regulation of isotype swi tching	TAS	biological_process
GO:0045348	positive regulation of MH C class II biosynthetic p rocess	ISS	biological_process
GO:0045471	response to ethanol	IEA	biological_process
GO:0045582	positive regulation of T cell differentiation	IDA	biological_process
GO:0045671	negative regulation of os teoclast differentiation	ISS	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	ISS	biological_process
GO:0048295	positive regulation of is otype switching to IgE is otypes	ISS	biological_process
GO:0048304	positive regulation of is otype switching to IgG is otypes	ISS	biological_process
GO:0050776	regulation of immune resp onse	ISS	biological_process
GO:0051091	positive regulation of se quence-specific DNA bindi ng transcription factor a ctivity	IBA	biological_process
GO:0060041	retina development in cam era-type eye	IEA	biological_process
GO:0070351	negative regulation of wh ite fat cell proliferatio n	IEA	biological_process
GO:0071288	cellular response to merc ury ion	IEA	biological_process
GO:0071677	positive regulation of mo nonuclear cell migration	IEA	biological_process
GO:0097028	dendritic cell differenti ation	IDA	biological_process
GO:0097192	extrinsic apoptotic signa ling pathway in absence o f ligand	IEA	biological_process
GO:1901741	positive regulation of my oblast fusion	IEA	biological_process
GO:1903660	negative regulation of co mplement-dependent cytoto xicity	IMP	biological_process
GO:2000320	negative regulation of T- helper 17 cell differenti ation	IEA	biological_process
GO:2000352	negative regulation of en dothelial cell apoptotic process	IMP	biological_process
GO:2000424	positive regulation of eo sinophil chemotaxis	IEA	biological_process
GO:2001237	negative regulation of ex trinsic apoptotic signali ng pathway	IEA	biological_process
GO:0001774	microglial cell activatio n	IEA	biological_process
GO:0001934	positive regulation of pr otein phosphorylation	IEA	biological_process
GO:0002227	innate immune response in mucosa	IEA	biological_process
GO:0002230	positive regulation of de fense response to virus b y host	IEA	biological_process
GO:0002296	T-helper 1 cell lineage c ommitment	IEA	biological_process
GO:0002639	positive regulation of im munoglobulin production	IEA	biological_process
GO:0002674	negative regulation of ac ute inflammatory response	IEA	biological_process
GO:0002677	negative regulation of ch ronic inflammatory respon se	IEA	biological_process
GO:0005125	cytokine activity	IEA	molecular_function
GO:0005125	cytokine activity	IBA	molecular_function
GO:0005125	cytokine activity	IEA	molecular_function
GO:0005126	cytokine receptor binding	IEA	molecular_function
GO:0005136	interleukin-4 receptor bi nding	IEA	molecular_function
GO:0005136	interleukin-4 receptor bi nding	TAS	molecular_function
GO:0005136	interleukin-4 receptor bi nding	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:0005576	extracellular region	IEA	cellular_component
GO:0005576	extracellular region	IEA	cellular_component
GO:0005576	extracellular region	IEA	cellular_component
GO:0005615	extracellular space	IEA	cellular_component
GO:0005615	extracellular space	IEA	cellular_component
GO:0005615	extracellular space	TAS	cellular_component
GO:0005615	extracellular space	TAS	cellular_component
GO:0006935	chemotaxis	TAS	biological_process
GO:0006955	immune response	IEA	biological_process
GO:0006955	immune response	TAS	biological_process
GO:0006968	cellular defense response	TAS	biological_process
GO:0007565	female pregnancy	IEA	biological_process
GO:0007584	response to nutrient	IEA	biological_process
GO:0008083	growth factor activity	IEA	molecular_function
GO:0008083	growth factor activity	IEA	molecular_function
GO:0008083	growth factor activity	NAS	molecular_function
GO:0008203	cholesterol metabolic pro cess	IEA	biological_process
GO:0008203	cholesterol metabolic pro cess	ISS	biological_process
GO:0008284	positive regulation of ce ll proliferation	IEA	biological_process
GO:0009897	external side of plasma m embrane	IEA	cellular_component
GO:0010155	regulation of proton tran sport	IEA	biological_process
GO:0010633	negative regulation of ep ithelial cell migration	IDA	biological_process
GO:0014070	response to organic cycli c compound	IEA	biological_process
GO:0030183	B cell differentiation	TAS	biological_process
GO:0030890	positive regulation of B cell proliferation	IEA	biological_process
GO:0030890	positive regulation of B cell proliferation	ISS	biological_process
GO:0031296	B cell costimulation	IEA	biological_process
GO:0032733	positive regulation of in terleukin-10 production	IEA	biological_process
GO:0032736	positive regulation of in terleukin-13 production	IDA	biological_process
GO:0034097	response to cytokine	IEA	biological_process
GO:0035745	T-helper 2 cell cytokine production	IDA	biological_process
GO:0042092	type 2 immune response	TAS	biological_process
GO:0042102	positive regulation of T cell proliferation	IEA	biological_process
GO:0042102	positive regulation of T cell proliferation	ISS	biological_process
GO:0042104	positive regulation of ac tivated T cell proliferat ion	IEA	biological_process
GO:0042113	B cell activation	IEA	biological_process
GO:0042113	B cell activation	IEA	biological_process
GO:0042325	regulation of phosphoryla tion	ISS	biological_process
GO:0042493	response to drug	IEA	biological_process
GO:0042523	positive regulation of ty rosine phosphorylation of Stat5 protein	IEA	biological_process
GO:0042832	defense response to proto zoan	IEA	biological_process
GO:0043011	myeloid dendritic cell di fferentiation	IDA	biological_process
GO:0043031	negative regulation of ma crophage activation	IEA	biological_process
GO:0043066	negative regulation of ap optotic process	ISS	biological_process
GO:0043306	positive regulation of ma st cell degranulation	IEA	biological_process
GO:0045019	negative regulation of ni tric oxide biosynthetic p rocess	IEA	biological_process
GO:0045064	T-helper 2 cell different iation	IEA	biological_process
GO:0045080	positive regulation of ch emokine biosynthetic proc ess	IEA	biological_process
GO:0045189	connective tissue growth factor biosynthetic proce ss	TAS	biological_process
GO:0045191	regulation of isotype swi tching	TAS	biological_process
GO:0045348	positive regulation of MH C class II biosynthetic p rocess	IEA	biological_process
GO:0045348	positive regulation of MH C class II biosynthetic p rocess	ISS	biological_process
GO:0045471	response to ethanol	IEA	biological_process
GO:0045582	positive regulation of T cell differentiation	IDA	biological_process
GO:0045671	negative regulation of os teoclast differentiation	IEA	biological_process
GO:0045671	negative regulation of os teoclast differentiation	ISS	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IEA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IEA	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	ISS	biological_process
GO:0048295	positive regulation of is otype switching to IgE is otypes	IEA	biological_process
GO:0048295	positive regulation of is otype switching to IgE is otypes	ISS	biological_process
GO:0048304	positive regulation of is otype switching to IgG is otypes	IEA	biological_process
GO:0048304	positive regulation of is otype switching to IgG is otypes	ISS	biological_process
GO:0050727	regulation of inflammator y response	IEA	biological_process
GO:0050731	positive regulation of pe ptidyl-tyrosine phosphory lation	IEA	biological_process
GO:0050776	regulation of immune resp onse	IEA	biological_process
GO:0050776	regulation of immune resp onse	ISS	biological_process
GO:0050868	negative regulation of T cell activation	IEA	biological_process
GO:0050871	positive regulation of B cell activation	IEA	biological_process
GO:0051091	positive regulation of se quence-specific DNA bindi ng transcription factor a ctivity	IEA	biological_process
GO:0051091	positive regulation of se quence-specific DNA bindi ng transcription factor a ctivity	IBA	biological_process
GO:0060041	retina development in cam era-type eye	IEA	biological_process
GO:0070351	negative regulation of wh ite fat cell proliferatio n	IEA	biological_process
GO:0071288	cellular response to merc ury ion	IEA	biological_process
GO:0071677	positive regulation of mo nonuclear cell migration	IEA	biological_process
GO:0097028	dendritic cell differenti ation	IDA	biological_process
GO:0097192	extrinsic apoptotic signa ling pathway in absence o f ligand	IEA	biological_process
GO:1901741	positive regulation of my oblast fusion	IEA	biological_process
GO:1903660	negative regulation of co mplement-dependent cytoto xicity	IMP	biological_process
GO:2000320	negative regulation of T- helper 17 cell differenti ation	IEA	biological_process
GO:2000352	negative regulation of en dothelial cell apoptotic process	IMP	biological_process
GO:2000424	positive regulation of eo sinophil chemotaxis	IEA	biological_process
GO:2001237	negative regulation of ex trinsic apoptotic signali ng pathway	IEA	biological_process
GO:0005125	cytokine activity	IBA	molecular_function
GO:0005136	interleukin-4 receptor bi nding	TAS	molecular_function
GO:0005136	interleukin-4 receptor bi nding	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:0005615	extracellular space	TAS	cellular_component
GO:0005615	extracellular space	TAS	cellular_component
GO:0006935	chemotaxis	TAS	biological_process
GO:0006955	immune response	TAS	biological_process
GO:0006968	cellular defense response	TAS	biological_process
GO:0008083	growth factor activity	NAS	molecular_function
GO:0008203	cholesterol metabolic pro cess	ISS	biological_process
GO:0010633	negative regulation of ep ithelial cell migration	IDA	biological_process
GO:0030183	B cell differentiation	TAS	biological_process
GO:0030890	positive regulation of B cell proliferation	ISS	biological_process
GO:0032736	positive regulation of in terleukin-13 production	IDA	biological_process
GO:0035745	T-helper 2 cell cytokine production	IDA	biological_process
GO:0042092	type 2 immune response	TAS	biological_process
GO:0042102	positive regulation of T cell proliferation	ISS	biological_process
GO:0042325	regulation of phosphoryla tion	ISS	biological_process
GO:0043011	myeloid dendritic cell di fferentiation	IDA	biological_process
GO:0043066	negative regulation of ap optotic process	ISS	biological_process
GO:0045189	connective tissue growth factor biosynthetic proce ss	TAS	biological_process
GO:0045191	regulation of isotype swi tching	TAS	biological_process
GO:0045348	positive regulation of MH C class II biosynthetic p rocess	ISS	biological_process
GO:0045582	positive regulation of T cell differentiation	IDA	biological_process
GO:0045671	negative regulation of os teoclast differentiation	ISS	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	ISS	biological_process
GO:0048295	positive regulation of is otype switching to IgE is otypes	ISS	biological_process
GO:0048304	positive regulation of is otype switching to IgG is otypes	ISS	biological_process
GO:0050776	regulation of immune resp onse	ISS	biological_process
GO:0051091	positive regulation of se quence-specific DNA bindi ng transcription factor a ctivity	IBA	biological_process
GO:0097028	dendritic cell differenti ation	IDA	biological_process
GO:1903660	negative regulation of co mplement-dependent cytoto xicity	IMP	biological_process
GO:2000352	negative regulation of en dothelial cell apoptotic process	IMP	biological_process

KEGG pathways

hsa04151  PI3K-Akt signaling pathway
hsa04060  Cytokine-cytokine receptor interaction
hsa04630  Jak-STAT signaling pathway
hsa04659  Th17 cell differentiation
hsa05162  Measles
hsa04657  IL-17 signaling pathway
hsa05321  Inflammatory bowel disease
hsa04640  Hematopoietic cell lineage
hsa04660  T cell receptor signaling pathway
hsa04658  Th1 and Th2 cell differentiation
hsa05140  Leishmaniasis
hsa05320  Autoimmune thyroid disease
hsa05330  Allograft rejection
hsa04672  Intestinal immune network for IgA production
hsa04664  Fc epsilon RI signaling pathway
hsa05310  Asthma

Diseases

Associated diseases	References
Allergic rhinitis	PMID: 19222422
Alzheimer's disease	PMID: 19141999
Arthritis	PMID: 11315919
Asthma	PMID: 16164695
Atopy	PMID: 15969687
Atopy	PMID: 12897746
Bullous pemphigoid	PMID: 16403098
Cancer	PMID: 14675394
Celiac disease	PMID: 15713213
Cholelithiasis	PMID: 16083600
Chronic obstructive pulmonary disease (COPD)	PMID: 15596681
Chronic Periodontitis	PMID: 18834248
Crohn's disease	PMID: 11294568
Dermatitis	PMID: 16681592
Diabetes	PMID: 18688110
Eczema	PMID: 17121586
Endometrial cancer	PMID: 26744532
Endometriosis	PMID: 11968047
Gastric atrophy	PMID: 15904474
Graves disease	PMID: 16195814
Hemophilia A	PMID: 16380445
Juvenile arthritis	PMID: 15170937
Kawasaki disease	PMID: 15900570
Leukocytospermia	PMID: 10509791
Male infertility	PMID: 15595690
Multiple sclerosis	PMID: 12667657
Nephropathy	PMID: 12552499
Nephrotic syndrome	PMID: 11980568
Osteomyelitis	PMID: 18971305
Panencephalitis	PMID: 12020266
Parkinson's disease	PMID: 18568448
Pelvic endometriosis	PMID: 26871558
Pelvic endometriosis	PMID: 26871558
Pemphigus	PMID: 19470040
Periodontitis	PMID: 15001290
Female infertility	INFBASE8671228
Endometriosis	INFBASE8671228
Preeclampsia	PMID: 24931237
Premature birth	PMID: 18674658
Psoriasis	PMID: 11298547
Recurrent miscarriage	PMID: 12660269
Reproductive failure	PMID: 12607776
Restenosis	PMID: 12082592
Rheumatoid arthritis	PMID: 18625055
Schizophrenia	PMID: 16091861
Sjogren's syndrome	PMID: 16166103
Spontaneous preterm birth	PMID: 15042002
Sudden infant death syndrome (SIDS)	PMID: 16916659
Systemic lupus erythematosus	PMID: 12587822
Ulcerative colitis	PMID: 12133437
Unexplained�infertility	PMID: 24368037
Vitiligo	PMID: 19129082

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
17234676	Endometrio sis			98 with and wit hout endometrio sis		IFN-gamma IL-10 IL-4 IL-2	Show abstract
8671228	Endometrio sis				Female infertility	IL-6 IL-4 PDGF and TNF (alpha and beta)	Show abstract
16359969	Endometrio sis			35 (15 women wi th endometriosi s, 20 fertile c ontrols)		IL-4 IL-10	Show abstract
15166131	Endometrio sis	IL-4 -590C/T, IFNG CA-repeat polymorphism	Japanes e	361 (185 patien ts with endomet riosis, 176 hea lthy fertile wo men)		IFNG IL-4	Show abstract
11776169	Endometrio sis			45 (30 EM patie nts, 15 normal controls)		IFN-gamma IL-4	Show abstract
9176444	Endometrio sis			50 (7 women wit h normal pelvic structure, 36 patients with e ndometriosis, a nd 7 women with pelvic adhesio n)		IL-10 IL-12	Show abstract
18599603	Endometrio sis					IL-4	Show abstract