Human Gene IL6 (uc011jyo.1)
  Description: Homo sapiens interleukin 6 (interferon, beta 2) (IL6), mRNA.
RefSeq Summary (NM_000600): This gene encodes a cytokine that functions in inflammation and the maturation of B cells. In addition, the encoded protein has been shown to be an endogenous pyrogen capable of inducing fever in people with autoimmune diseases or infections. The protein is primarily produced at sites of acute and chronic inflammation, where it is secreted into the serum and induces a transcriptional inflammatory response through interleukin 6 receptor, alpha. The functioning of this gene is implicated in a wide variety of inflammation-associated disease states, including suspectibility to diabetes mellitus and systemic juvenile rheumatoid arthritis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015].
Transcript (Including UTRs)
   Position: hg19 chr7:22,766,766-22,770,157 Size: 3,392 Total Exon Count: 4 Strand: +
Coding Region
   Position: hg19 chr7:22,766,882-22,769,405 Size: 2,524 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr7:22,766,766-22,770,157)mRNA (may differ from genome)Protein (198 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCLynxMalacardsMGI
OMIMPubMedUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: B5MC14_HUMAN
DESCRIPTION: SubName: Full=Interleukin-6;
CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.

-  Primer design for this transcript
 

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-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): IL6
CDC HuGE Published Literature: IL6
Positive Disease Associations: ageing , appendicitis , atherosclerosis, coronary lipids lipoprotein , Atherosclerosis|Inflammation , atopy , bacterial vaginosis , Birth Weight|Chorioamnionitis|Infection|Inflammation , body mass , bone density , bone loss , bone mineral density , Bone Mineralization , bone resorption , Brain aging , breast cancer , bronchiolitis obliterans syndrome , C-reactive protein , celiac disease , cirrhosis, biliary primary , Colorectal Cancer , coronary artery disease , coronary artery spasm , coronary heart disease , Crohn disease , diabetes, type 1 , diabetes, type 2 , disc disease, intervertebral , elite athletes , Fatty Liver|Insulin Resistance , graft versus host disease , hepatitis B , hepatitis C infection , hyperandrogenism , Inflamatory Bowel disease , Inflammation|Venous Thromboembolism , Insulin sensitivity , intima-media thickness, carotid , kidney failure, chronic , kidney transplant , leukemia virus type I , Leukomalacia, Periventricular|Mental Retardation , levels of antibodies to 60-kDa heat-shock proteins , lipids; C-reactive protein; obesity; glucose; leptin , long-term kidney allograft survival , Longevity , Lupus , multiple sclerosis , myocardial infarct , neonatal infection , Neuroblastoma , papillary thyroid carcinoma , Parkinson's disease , periodontal disease , pneumoconiosis, coal workers' silicosis , postoperative systemic inflammatory reaction , preterm delivery , renal transplantation, rejection after , Respiratory Distress Syndrome, Adult , rheumatoid arthritis , sepsis , SIDS/sudden infant death syndrome , stroke, hemorrhagic stroke, ischemic , subclinical carotid atherosclerosis , systemic juvenile idiopathic arthritis , trypanosomiasis , Type 2 diabtes , vascular disease , Waist Circumference , Waist-Hip Ratio , Waldenstrom macroglobulinaemia; Hodgkin lymphoma
Related Studies:
  1. ageing
    Giacconi R 2004, The -174G/C polymorphism of IL-6 is useful to screen old subjects at risk for atherosclerosis or to reach successful ageing., Experimental gerontology. 2004 Apr;39(4):621-8. [PubMed 15050298]
  2. appendicitis
    Rivera-Chavez, F. A. et al. 2004, Innate immunity genes influence the severity of acute appendicitis., Annals of surgery. 2004 Aug;240(2):269-77. [PubMed 15273551]
    Polymorphism in the IL-6 gene was associated with the severity of appendicitis, even after adjustment for duration of symptoms. The risk for developing appendiceal perforation or gangrene may be determined, in part, by variation in the IL-6 gene.
  3. atherosclerosis, coronary lipids lipoprotein
    Wei, Y. S. et al. 2006, Relationship between interleukin-6 gene polymorphism and coronary heart disease and its effect on plasma lipid levels., Zhongguo Wei Zhong Bing Ji Jiu Yi Xue 2006 18(4) 233-6. [PubMed 16647016]
    IL-6 gene -572 C/G polymorphism is associated with CHD, and G allele is an important genetic marker. IL-6 gene polymorphism may affect CHD through elevation of plasma lipid and lipoprotein levels.
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: IL6
Diseases sorted by gene-association score: rheumatoid arthritis, systemic juvenile* (613), kaposi sarcoma* (603), intracranial hemorrhage in brain cerebrovascular malformations* (550), crohn disease-associated growth failure* (389), diabetes mellitus, insulin-dependent* (325), arthritis (42), plasmacytoma (41), euthyroid sick syndrome (30), polyclonal hypergammaglobulinemia (29), mesangial proliferative glomerulonephritis (29), castleman disease (28), mouth disease (25), rheumatoid arthritis (25), chorioamnionitis (24), funisitis (24), monoclonal gammopathy of uncertain significance (24), acute cystitis (23), peritonitis (22), radiculopathy (22), poems syndrome (22), acute cholangitis (21), multicentric castleman disease (19), scorpion envenomation (19), angioimmunoblastic lymphadenopathy with dysproteinemia (18), streptococcal toxic-shock syndrome (18), cervical incompetence (18), adult-onset still's disease (18), joint disorders (17), periodontal disease (17), paraneoplastic syndromes (17), appendicitis (16), toxic shock syndrome (16), myelitis (16), cysticercosis (15), denture stomatitis (15), acute pancreatitis (15), trypanosomiasis (14), thrombocytosis (14), complex regional pain syndrome (14), burning mouth syndrome (13), angina pectoris (13), pneumonia (13), hemorrhagic fever with renal syndrome (13), nephropathia epidemica (13), endometritis (13), critical limb ischemia (13), viral pneumonia (13), stachybotrys chartarum (13), anterior uveitis (13), vibrio vulnificus infection (13), viral encephalitis (13), sleep apnea (13), inflammatory bowel disease (13), leukomalacia (13), necrotizing fasciitis (12), mycobacterium avium complex disease (12), dry eye syndrome (12), periodontitis (12), neuromyelitis optica (12), pyelonephritis (12), spinal cord injury (12), chagas disease (12), periventricular leukomalacia (12), nervous system disease (11), synovitis (11), diabetic macular edema (11), meconium aspiration syndrome (11), hand, foot and mouth disease (11), ileitis (11), fatty liver disease (11), osteoporotic fracture (11), aggressive periodontitis (11), acute pyelonephritis (11), localized scleroderma (11), gastroschisis (11), transverse myelitis (11), adult respiratory distress syndrome (10), endometriosis (10), lymphocytic choriomeningitis (10), cold agglutinin disease (10), recurrent corneal erosion (10), aphthous stomatitis (10), acute adrenal insufficiency (10), pneumoconiosis (10), bacteriuria (10), meningoencephalitis (10), osteoporosis (10), arteriosclerosis obliterans (10), takayasu arteritis (10), bacterial vaginosis (10), obstructive sleep apnea (10), extrinsic allergic alveolitis (10), viral meningitis (10), chikungunya (10), limb ischemia (9), connective tissue disease (9), mastitis (9), multiple myeloma (9), typhoid fever (9), gastroenteritis (9), preterm premature rupture of the membranes (9), retinal vein occlusion (9), post-thrombotic syndrome (9), prostatitis (9), cystitis (9), deficiency anemia (9), pericarditis (9), dengue shock syndrome (9), bullous impetigo (9), pulpitis (9), sleeping sickness (9), crimean-congo hemorrhagic fever (9), infective endocarditis (9), obstructive jaundice (9), monocytic leukemia (9), interstitial cystitis (9), laryngitis (9), capillary leak syndrome (9), central retinal vein occlusion (9), acquired immunodeficiency syndrome (9), aortic disease (9), peripheral artery disease (9), subacute thyroiditis (9), autoinflammation, lipodystrophy, and dermatosis syndrome (9), relapsing polychondritis (9), papillary conjunctivitis (9), acute respiratory distress syndrome (9), neutrophilia, hereditary (8), inguinal hernia (8), coronary stenosis (8), chronic fatigue syndrome (8), sudden sensorineural hearing loss (8), human herpesvirus 8 (8), arteriovenous fistula (8), nodular goiter (8), tropical spastic paraparesis (8), cyclic vomiting syndrome (8), lyme disease (8), systolic heart failure (8), diabetes mellitus, noninsulin-dependent (8), cerebral palsy (8), intussusception (8), keratitis (8), end stage renal failure (8), c1q deficiency (8), endocarditis (8), gingivitis (8), polyarteritis nodosa (8), brucellosis (8), uterine disease (8), traumatic brain injury (8), pericardial effusion (8), intermediate uveitis (8), fasciitis (8), anca-associated vasculitis (7), plasmodium vivax malaria (7), acute transverse myelitis (7), cryopyrin-associated periodic syndrome (7), macroglobulinemia (7), cardiogenic shock (7), rasmussen encephalitis (7), conjunctivitis (7), bone cancer (7), osteomyelitis (7), dengue hemorrhagic fever (7), protein-energy malnutrition (7), melioidosis (7), glossitis (7), impetigo (7), spondyloarthropathy (7), pertussis (7), acute vascular insufficiency of intestine (7), mixed connective tissue disease (7), bronchiolitis obliterans (7), rosacea (7), posterior urethral valves (7), meningitis (7), extramedullary plasmacytoma (7), retinitis pigmentosa 55 (7), bone inflammation disease (7), mixed lacrimal gland cancer (7), proliferative glomerulonephritis (7), reactive arthritis (7), eye lymphoma (7), cowpox (7), asbestosis (7), kawasaki disease (7), bagassosis (7), iron deficiency anemia (6), vaginal disease (6), otitis media (6), primary effusion lymphoma (6), hepatic encephalopathy (6), neonatal jaundice (6), alcoholic hepatitis (6), diastrophic dysplasia (6), intermittent claudication (6), arteriovenous malformation (6), temporal arteritis (6), adolescent idiopathic scoliosis (6), paracoccidioidomycosis (6), gingival overgrowth (6), echinococcosis (6), ischemic heart disease (6), null-cell leukemia (6), hemorrhagic fever (6), filariasis (6), central nervous system vasculitis (6), brain edema (6), post-transplant lymphoproliferative disease (6), uremic pruritus (6), chronic mucocutaneous candidiasis (6), acute monoblastic leukemia (6), esophagitis (6), leptospirosis (6), stromal keratitis (6), osteosclerotic myeloma (6), tonsillitis (6), intervertebral disc disease (6), brain injury (6), bronchiolitis (6), abdominal aortic aneurysm (6), toxoplasmosis (6), chlamydia (6), respiratory system disease (6), malaria (6), cholangitis (6), relapsing-remitting multiple sclerosis (6), retinal detachment (5), listeriosis (5), cecal disease (5), peripheral vascular disease (5), extrinsic cardiomyopathy (5), contact dermatitis (5), eye disease (5), encephalomalacia (5), lacrimal apparatus disease (5), idiopathic neutropenia (5), microscopic colitis (5), plasma cell neoplasm (5), placenta disease (5), perinatal necrotizing enterocolitis (5), eales disease (5), coronary artery disease (5), intestinal disease (5), osteoarthritis (5), hematopoietic stem cell transplantation (5), cytomegalovirus infection (5), hodgkin lymphoma (5), spondylitis (5), vaginitis (5), transient arthritis (5), prediabetes syndrome (5), acquired metabolic disease (5), hydrarthrosis (5), immune system disease (5), endometrial disease (5), myxoid liposarcoma (5), gingival disease (5), colitis (5), female reproductive system disease (4), commensal bacterial infectious disease (4), heart disease (4), macular retinal edema (4), breast carcinoma in situ (4), measles (4), intermediate coronary syndrome (4), bladder disease (4), human immunodeficiency virus infectious disease (4), mesenteric lymphadenitis (4), ulcerative colitis (4), overnutrition (4), photokeratitis (4), hepatocellular carcinoma (4), intermittent explosive disorder (4), liver disease (4), sudden infant death syndrome (4), keratoconjunctivitis sicca (4), multiple symmetrical lipomatosis (4), tuberculosis (4), louse-borne relapsing fever (4), pulmonary disease, chronic obstructive (4), systemic lupus erythematosus (4), lymph node disease (4), primary amebic meningoencephalitis (4), dilated cardiomyopathy (4), exanthem (4), astrocytoma (4), hypersensitivity reaction type ii disease (3), interstitial lung disease (3), arteriosclerosis (3), artery disease (3), aortic aneurysm (3), myocarditis (3), viral infectious disease (3), glucose intolerance (3), obesity (3), colorectal cancer (3), mood disorder (3), cerebrovascular disease (3), asthma (3), crohn's disease (3), pre-eclampsia (3), paget's disease of bone (3), leprosy (3), chronic kidney failure (3), hellp syndrome (2), focal epilepsy (2), wegener granulomatosis (2), esophageal cancer (2), multiple sclerosis, disease progression, modifier of (2), aplastic anemia (2), gastrointestinal system disease (2), pulmonary hypertension (2), common variable immunodeficiency (2), myocardial infarction (2), breast cancer (2), hypersensitivity reaction disease (2), urinary bladder cancer (2), glucose metabolism disease (2), pancreas disease (2), primary bacterial infectious disease (1), reproductive system disease (1), urinary system disease (1), sleep disorder (1), bone resorption disease (1), endometrial stromal sarcoma (1), parasitic protozoa infectious disease (1), macular degeneration, age-related, 1 (1), gastrointestinal system cancer (1), behcet syndrome (1), leukemia, acute myeloid (0)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 15.76 RPKM in Adipose - Visceral (Omentum)
Total median expression: 60.70 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -29.70116-0.256 Picture PostScript Text
3' UTR -230.80752-0.307 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR009079 - 4_helix_cytokine-like_core
IPR012351 - 4_helix_cytokine_core
IPR003573 - IL6_MGF_GCSF
IPR003574 - Interleukin_6

Pfam Domains:
PF00489 - Interleukin-6/G-CSF/MGF family

SCOP Domains:
47266 - 4-helical cytokines

ModBase Predicted Comparative 3D Structure on B5MC14
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005125 cytokine activity
GO:0005138 interleukin-6 receptor binding

Biological Process:
GO:0006955 immune response
GO:0010469 regulation of receptor activity

Cellular Component:
GO:0005576 extracellular region


-  Descriptions from all associated GenBank mRNAs
  LQ882870 - Sequence 19 from Patent WO2018160841.
AK298077 - Homo sapiens cDNA FLJ52006 complete cds, moderately similar to Interleukin-6 precursor.
AK301141 - Homo sapiens cDNA FLJ61423 complete cds, highly similar to Interleukin-6 precursor.
A09363 - H.sapiens mRNA for interferon beta 2a.
X04430 - Human IFN-beta 2a mRNA for interferon-beta-2.
A09367 - Nucleotide sequence 5 from patent number EP0220574.
AK298013 - Homo sapiens cDNA FLJ55231 complete cds, highly similar to Interleukin-6 precursor.
M14584 - Human interleukin 6 mRNA, complete cds.
M18403 - Human hybridoma growth factor (interleukin 6) mRNA, complete cds.
BC015511 - Homo sapiens interleukin 6 (interferon, beta 2), mRNA (cDNA clone MGC:9215 IMAGE:3884652), complete cds.
M54894 - Human interleukin 6 mRNA, complete cds.
E03737 - cDNA encoding human B-cell differenciation factor.
M29150 - Human interleukin 6 (B-cell stimulatory factor-2) mRNA, complete cds.
E01518 - DNA encoding human B-cell differentiation factot.
E01537 - DNA encoding human B-cell differentiation factor.
E01616 - cDNA encoding human B cell differentiation factor.
E02030 - cDNA sequence coding for BSF-2.
E02202 - DNA encoding B cell differentiation factor (BSF-2).
E02930 - DNA sequence coding for human BCDF.
E11969 - cDNA encoding B-cell differentiation factor,BCDF.
X04602 - Human mRNA for interleukin BSF-2 (B-cell differentiation factor).
S56892 - interleukin-6 [human, tonsillar mononuclear cells, mRNA, 657 nt].
AB528399 - Synthetic construct DNA, clone: pF1KE1084, Homo sapiens IL6 gene for interleukin 6, without stop codon, in Flexi system.
CR450296 - Homo sapiens full open reading frame cDNA clone RZPDo834C041D for gene IL6, interleukin 6 (interferon, beta 2); complete cds; without stopcodon.
DQ894639 - Synthetic construct Homo sapiens clone IMAGE:100009099; FLH177151.01L; RZPDo839D08123D interleukin 6 (interferon, beta 2) (IL6) gene, encodes complete protein.
BT019748 - Homo sapiens interleukin 6 (interferon, beta 2) mRNA, complete cds.
BT019749 - Homo sapiens interleukin 6 (interferon, beta 2) mRNA, complete cds.
DQ891463 - Synthetic construct clone IMAGE:100004093; FLH177154.01X; RZPDo839D08124D interleukin 6 (interferon, beta 2) (IL6) gene, encodes complete protein.
JQ250825 - Homo sapiens interleukin 6 gene, complete cds.
E02205 - DNA encoding human B-cell differentiation factor (BSF-2).
X04403 - Human mRNA fragment for inducible 26 kDa protein (C-terminus) in fibroblasts.
MP584520 - Sequence 19 from Patent WO2020081767.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04060 - Cytokine-cytokine receptor interaction
hsa04620 - Toll-like receptor signaling pathway
hsa04621 - NOD-like receptor signaling pathway
hsa04623 - Cytosolic DNA-sensing pathway
hsa04630 - Jak-STAT signaling pathway
hsa04640 - Hematopoietic cell lineage
hsa04672 - Intestinal immune network for IgA production
hsa05020 - Prion diseases
hsa05142 - Chagas disease
hsa05200 - Pathways in cancer
hsa05332 - Graft-versus-host disease
hsa05410 - Hypertrophic cardiomyopathy (HCM)

BioCarta from NCI Cancer Genome Anatomy Project
h_erythPathway - Erythrocyte Differentiation Pathway
h_il10Pathway - IL-10 Anti-inflammatory Signaling Pathway
h_inflamPathway - Cytokines and Inflammatory Response
h_LairPathway - Cells and Molecules involved in local acute inflammatory response
h_cytokinePathway - Cytokine Network
h_her2Pathway - Role of ERBB2 in Signal Transduction and Oncology
h_il6Pathway - IL 6 signaling pathway
h_LDLpathway - Low-density lipoprotein (LDL) pathway during atherogenesis
h_il1rPathway - Signal transduction through IL1R
h_il5Pathway - IL 5 Signaling Pathway
h_il17Pathway - IL 17 Signaling Pathway
h_stemPathway - Regulation of hematopoiesis by cytokines

-  Other Names for This Gene
  Alternate Gene Symbols: AK301141, B5MC14, B5MC14_HUMAN, NM_000600, NP_000591
UCSC ID: uc011jyo.1
RefSeq Accession: NM_000600
Protein: B5MC14

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: AK301141.1
exon count: 4CDS single in 3' UTR: no RNA size: 1465
ORF size: 597CDS single in intron: no Alignment % ID: 99.80
txCdsPredict score: 1318.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 878# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.