IL6 Gene Complete Identifier and Functional Mapping Reference

Provide a comprehensive cross-database identifier and functional mapping reference for human IL6. This should serve as a definitive lookup resource …

Provide a comprehensive cross-database identifier and functional mapping reference for human IL6. This should serve as a definitive lookup resource for researchers. ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ SECTION 1: GENE IDENTIFIERS ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ Provide ALL gene-level database identifiers: - HGNC ID and approved symbol - Ensembl gene ID (ENSG) - NCBI Entrez Gene ID - OMIM gene/locus ID - Genomic location: chromosome, start position, end position, strand ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ SECTION 2: TRANSCRIPT IDENTIFIERS ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ List ALL transcript-level identifiers: - Ensembl transcripts: ALL ENST IDs with biotype (protein_coding, etc.) How many total transcripts? - RefSeq transcripts: ALL NM_ mRNA accessions Mark which is MANE Select (canonical clinical standard) - CCDS IDs: ALL consensus coding sequence identifiers For the CANONICAL/MANE SELECT transcript: - List ALL exon IDs (ENSE) with genomic coordinates - Total exon count ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ SECTION 3: PROTEIN IDENTIFIERS ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ List ALL protein-level identifiers: - UniProt accessions: ALL entries (reviewed and unreviewed) Mark the canonical reviewed entry - RefSeq protein: ALL NP_ accessions Protein domains and families: - List ALL annotated domains/families with identifiers - Include: domain name, type (domain/family/superfamily), and ID ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ SECTION 4: STRUCTURE IDENTIFIERS ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ Experimental structures: - List ALL PDB structure IDs - For each: experimental method (X-ray, NMR, Cryo-EM) and resolution - Total PDB structure count Predicted structures: - AlphaFold model ID and confidence metrics (pLDDT) ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ SECTION 5: CROSS-SPECIES ORTHOLOGS ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ List orthologous genes in key model organisms (where available): - Mouse (Mus musculus): gene ID, symbol - Rat (Rattus norvegicus): gene ID, symbol - Zebrafish (Danio rerio): gene ID, symbol - Fruit fly (Drosophila melanogaster): gene ID, symbol - Worm (C. elegans): gene ID, symbol - Yeast (S. cerevisiae): gene ID, symbol ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ SECTION 6: CLINICAL VARIANTS & AI PREDICTIONS ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ Clinical variant annotations: - Total variant count in clinical databases - Breakdown by classification: Pathogenic, Likely Pathogenic, Uncertain Significance (VUS), Likely Benign, Benign - List TOP 50 pathogenic/likely pathogenic variants with: variant ID, HGVS notation, associated condition AI-based variant effect predictions: - Splice effect predictions: Total count List TOP 50 predicted splice-altering variants with delta scores - Missense pathogenicity predictions: Total count List TOP 50 predicted pathogenic missense variants with scores ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ SECTION 7: BIOLOGICAL PATHWAYS & GENE ONTOLOGY ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ Pathway membership: - List ALL biological pathways this gene participates in - Include pathway IDs and names - Total pathway count Gene Ontology annotations: - Biological Process: count and TOP 20 terms with IDs - Molecular Function: count and TOP 20 terms with IDs - Cellular Component: count and TOP 20 terms with IDs ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ SECTION 8: PROTEIN INTERACTIONS & MOLECULAR NETWORKS ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ Protein-protein interactions: - Total interaction count - List TOP 50 highest-confidence interacting proteins with scores Protein similarity (evolutionary and structural): - Structural/embedding similarity: How many similar proteins? List TOP 20 with similarity scores - Sequence homology: How many homologous proteins? List TOP 20 with identity/similarity scores ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ SECTION 9: TRANSCRIPTION FACTOR REGULATORY DATA ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ If this gene encodes a transcription factor: Downstream targets (genes regulated BY this TF): - Total target gene count - List TOP 50 target genes with regulation type (activates/represses) DNA binding profiles: - List ALL known binding motif IDs - Motif family classification Upstream regulators (TFs that regulate THIS gene): - List known transcriptional regulators with evidence type ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ SECTION 10: DRUG & PHARMACOLOGY DATA ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ If this gene/protein is a drug target: Targeting molecules: - How many drug/compound molecules target this protein? - List TOP 30 molecules by development phase - Include: molecule ID, name, mechanism, highest development phase Clinical trials: - How many clinical trials involve drugs targeting this gene? - List TOP 20 trials with: trial ID, phase, status, intervention Pharmacogenomics: - Known drug-gene interactions affecting drug response - Dosing guidelines if any exist ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ SECTION 11: EXPRESSION PROFILES ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ Tissue expression: - Which tissues express this gene most highly? - List TOP 30 tissues with expression scores/levels - Note any tissue-specific or tissue-enriched patterns Cell type expression: - Which cell types show highest expression? - List TOP 30 cell types with expression scores - Note any cell type-specific patterns Single-cell expression data (if available): - Which single-cell datasets/experiments include this gene? - Notable cell population patterns ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ SECTION 12: DISEASE ASSOCIATIONS ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ Mendelian/monogenic disease links: - What diseases are caused by mutations in this gene? - List ALL associated diseases with: disease name, disease ID, inheritance pattern, evidence level Phenotype associations: - What clinical phenotypes are associated with this gene? - List TOP 50 phenotype terms with IDs Complex trait associations (GWAS): - What traits/diseases are linked via genome-wide association studies? - List TOP 30 GWAS associations with: trait, study ID, p-value, effect size if available ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ FORMATTING REQUIREMENTS ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ - Present each section with clear headers - Use tables for listing multiple items - Always include COUNTS for every category - For lists with >50 items: show total count + TOP 50 - For lists with <50 items: show ALL items - Always include database identifiers (IDs), not just names - Mark canonical/primary/reviewed entries where applicable - If a section has no data available, state "No data available" rather than omitting the section

Structured Data Sources

This answer was generated using Claude Opus 4.5 + BioBTree MCP, querying 34 biological databases.

Further analyze this answer or run your own queries with BioBTree MCP.

Datasets: alphafold, alphamissense, bgee, bgee_evidence, ccds, chembl_molecule, chembl_target, clinvar, collectri, diamond_similarity, ensembl, entrez, esm2_similarity, exon, gencc, go, gwas, hgnc, hpo, intact, interpro, mim, orphanet, ortholog, pdb, pharmgkb, pharmgkb_gene, reactome, refseq, scxa, spliceai, string_interaction, transcript, uniprot
Generated: 2026-03-26 — For the latest data, query BioBTree directly via MCP or API.
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IL6

IL6 (Interleukin-6) - Comprehensive Cross-Database Identifier and Functional Mapping Reference


Section 1: Gene Identifiers

DatabaseIdentifierDetails
HGNCHGNC:6018Approved symbol: IL6
Approved Nameinterleukin 6
Previous SymbolsIFNB2
Previous Namesinterleukin 6 (interferon, beta 2)
AliasesIL-6, BSF2, HGF, HSF
Ensembl GeneENSG00000136244
NCBI Entrez Gene3569
OMIM147620
Locus Typeprotein-coding gene
Gene GroupsInterleukins, Interleukin 6 type cytokine family
StatusApproved
Genomic Location
AttributeValue
Chromosome7
Cytogenetic Band7p15.3
Start Position22,725,884
End Position22,732,002
Strand+ (positive)
Genome AssemblyGRCh38/hg38
Genomic AccessionNC_000007.14

Section 2: Transcript Identifiers Ensembl Transcripts (Total: 10)

Transcript IDBiotypeStartEndStrandUTR5UTR3
ENST00000258743protein_coding22,727,20022,731,998+22727200-2272726222731574-22731998
ENST00000401630protein_coding22,727,22422,731,729+22727224-2272726222731574-22731729
ENST00000401651protein_coding22,727,14722,729,803+22728693-2272871022729787-22729803
ENST00000404625protein_coding22,725,88422,732,002+22727179-2272726222731574-22732002
ENST00000406575protein_coding22,727,24022,729,815+22727240-2272726222729787-22729815
ENST00000407492protein_coding22,727,21422,732,002+22728693-2272871022731574-22732002
ENST00000426291protein_coding22,727,14722,729,647+22727147-22727262N/A
ENST00000464710retained_intron22,727,17722,731,202+N/AN/A
ENST00000485300protein_coding22,727,20022,731,694+22727200-2272726222731574-22731694
ENST00000964192protein_coding22,727,19822,731,988+22727198-2272726222731574-22731988
RefSeq Transcripts (Human)
RefSeq IDTypeStatusMANE Select
NM_000600mRNAREVIEWED✓ Yes
NM_001318095mRNAREVIEWEDNo
NM_001371096mRNAREVIEWEDNo
XM_005249745mRNAPREDICTEDNo
XM_054358145mRNAPREDICTEDNo
XM_054358146mRNAPREDICTEDNo
CCDS IDs (Total: 3)
CCDS ID
CCDS5375
CCDS83166
CCDS94066
Canonical Transcript Exons (ENST00000258743) - Total: 5
Exon IDStartEndStrandChromosome
ENSE0000384628622,727,20022,727,281+7
ENSE0000389296822,727,44422,727,634+7
ENSE0000368179322,728,69322,728,806+7
ENSE0000361483722,729,51422,729,660+7
ENSE0000112838522,731,40622,731,998+7

Section 3: Protein Identifiers UniProt Accessions (Total: 8)

UniProt IDStatusName
P05231Reviewed (Swiss-Prot)Interleukin-6 (Canonical)
A0A8Q3SJL1Unreviewed
B4DNV3Unreviewed
B5MC14Unreviewed
B5MC21Unreviewed
B5MCZ3Unreviewed
C9J5B0Unreviewed
Q75MH2Unreviewed
Canonical Protein Details (P05231)
AttributeValue
Primary NameInterleukin-6
Alternative NamesB-cell stimulatory factor 2, CTL differentiation factor, Hybridoma growth factor, Interferon beta-2
Sequence Length212 amino acids
Molecular Mass23,718 Da
RefSeq Proteins (Human)
RefSeq IDTypeMANE Select
NP_000591protein✓ Yes
NP_001305024proteinNo
NP_001358025proteinNo
XP_005249802predicted_proteinNo
XP_054214120predicted_proteinNo
XP_054214121predicted_proteinNo
Protein Domains and Families (Total: 4)
InterPro IDNameType
IPR003574IL-6-likeFamily
IPR0090794_helix_cytokine-like_coreHomologous_superfamily
IPR030473IL6/GCSF/MGF_CSConserved_site
IPR030474IL-6/GCSF/MGFFamily

Section 4: Structure Identifiers Experimental Structures - PDB (Total: 17)

PDB IDTitleMethodResolution (Å)
1ALUHuman Interleukin-6X-RAY DIFFRACTION1.9
1IL6Human Interleukin-6, NMR, minimized average structureSOLUTION NMR-
1P9MCrystal structure of hexameric human IL-6/IL-6R/gp130 complexX-RAY DIFFRACTION3.65
2IL6Human Interleukin-6, NMR, 32 structuresSOLUTION NMR-
4CNICrystal structure of Fab of Olokizumab in complex with IL-6X-RAY DIFFRACTION2.2
4J4LModular evolution and design of protein binding interfaceX-RAY DIFFRACTION2.3
4NI7Human IL-6 in complex with modified nucleotide aptamerX-RAY DIFFRACTION2.4
4NI9Human IL-6 in complex with aptamer FORM 2X-RAY DIFFRACTION2.55
4O9HIL-6 in complex with Camelid Fab fragmentX-RAY DIFFRACTION2.42
4ZS7Structural mimicry of receptor interaction by antagonistic antibodiesX-RAY DIFFRACTION2.93
5FUCJunctional epitope antibody locking IL-6 and gp80X-RAY DIFFRACTION2.7
7NXZSynthetic glycoform of Human Interleukin 6X-RAY DIFFRACTION1.998
8D82Cryo-EM structure of human IL-6 signaling complexELECTRON MICROSCOPY3.22
8QY5Structure of interleukin 6ELECTRON MICROSCOPY3.1
8QY6Structure of interleukin 6 (gp130 P496L mutant)ELECTRON MICROSCOPY3.16
8YWQFab fragment of anti-IL-6 antibody I9H with IL-6 dimerX-RAY DIFFRACTION2.51
8YWRFab fragment of anti-IL-6 antibody 68F2 with IL-6 dimerX-RAY DIFFRACTION2.93
Predicted Structures - AlphaFold
AlphaFold IDSequence LengthGlobal pLDDTFraction Very High Confidence
P05231166386.050.67 (67%)

Section 5: Cross-Species Orthologs

OrganismGene SymbolEnsembl Gene IDChromosomePosition
Mouse (Mus musculus)Il6ENSMUSG00000025746530,218,112-30,224,979 (+)
Rat (Rattus norvegicus)Il6ENSRNOG0000001027845,889,999-5,894,610 (-)
Zebrafish (Danio rerio)il6ENSDARG00000102318--
Fruit fly (D. melanogaster)-No ortholog identified--
Worm (C. elegans)-No ortholog identified--
Yeast (S. cerevisiae)-No ortholog identified--

Section 6: Clinical Variants & AI Predictions ClinVar Variants (Total: 25) Classification Summary

ClassificationCount
Pathogenic0
Likely Pathogenic0
Uncertain Significance (VUS)14
Likely Benign4
Benign5
Other/Not Provided2
All ClinVar Variants
Variant IDHGVS NotationClassificationReview Status
2245276NM_000600.5(IL6):c.119C>A (p.Ala40Asp)Uncertain significancecriteria provided, single submitter
2303034NM_000600.5(IL6):c.620G>C (p.Arg207Thr)Uncertain significancecriteria provided, single submitter
2406494NM_000600.5(IL6):c.285G>C (p.Met95Ile)Uncertain significancecriteria provided, single submitter
2495660NM_000600.5(IL6):c.168A>C (p.Gln56His)Likely benigncriteria provided, single submitter
2534860NM_000600.5(IL6):c.549C>A (p.Asn183Lys)Uncertain significancecriteria provided, single submitter
3056054NM_000600.5(IL6):c.603C>T (p.Phe201=)Benignno assertion criteria provided
3285905NM_000600.5(IL6):c.326A>G (p.Glu109Gly)Uncertain significancecriteria provided, single submitter
3860355NM_000600.5(IL6):c.533A>C (p.Lys178Thr)Uncertain significancecriteria provided, single submitter
3860356NM_000600.5(IL6):c.218A>G (p.Asn73Ser)Uncertain significancecriteria provided, single submitter
3860357NM_000600.5(IL6):c.586C>A (p.Arg196Ser)Uncertain significancecriteria provided, single submitter
4038473NM_000600.5(IL6):c.422G>T (p.Arg141Ile)Uncertain significancecriteria provided, single submitter
4038474NM_000600.5(IL6):c.163A>G (p.Lys55Glu)Likely benigncriteria provided, single submitter
4275185NM_000600.5(IL6):c.261A>C (p.Glu87Asp)Uncertain significancecriteria provided, single submitter
4678713NM_000600.5(IL6):c.175T>C (p.Tyr59His)Uncertain significancecriteria provided, single submitter
4678714NM_000600.5(IL6):c.470A>C (p.Lys157Thr)Uncertain significancecriteria provided, single submitter
709119NM_000600.5(IL6):c.91C>A (p.Pro31Thr)Benigncriteria provided, single submitter
717506NM_000600.5(IL6):c.183C>T (p.Leu61=)Likely benigncriteria provided, multiple submitters
768143NM_000600.5(IL6):c.94C>T (p.Pro32Ser)Benigncriteria provided, single submitter
777811NM_000600.5(IL6):c.485A>T (p.Asp162Val)Benigncriteria provided, multiple submitters
14718NC_000007.14:g.22727026C>GOther; risk factorno assertion criteria provided
14719NC_000007.14:g.22726602A>GBenignno assertion criteria provided
SpliceAI Predictions (Total: 526) TOP 50 Predicted Splice-Altering Variants (Highest Delta Scores)
VariantGeneEffectDelta Score
7:22727282:G:GGIL6donor_gain0.99
7:22727279:CAAGT:CIL6donor_loss0.96
7:22727280:AAGT:AIL6donor_loss0.96
7:22727281:AGT:AIL6donor_loss0.96
7:22727283:T:AIL6donor_loss0.96
7:22727279:CAA:CIL6donor_gain0.96
7:22727174:TATA:TIL6acceptor_loss0.95
7:22727176:TA:TIL6acceptor_loss0.95
7:22727177:A:ACIL6acceptor_loss0.95
7:22726053:G:TIL6donor_gain0.93
7:22726256:GAG:GIL6donor_gain0.93
7:22726260:T:AIL6donor_loss0.93
7:22727280:AA:AIL6donor_gain0.93
7:22727277:CACAA:CIL6donor_gain0.90
7:22727278:ACAA:AIL6donor_gain0.90
7:22726261:GAGTA:GIL6donor_loss0.90
7:22726259:G:GGIL6donor_gain0.90
7:22727210:C:CAIL6acceptor_gain0.88
7:22727211:G:GCIL6acceptor_gain0.88
7:22726635:G:GTIL6donor_gain0.86
7:22727172:A:GIL6acceptor_gain0.84
7:22726254:AAGAG:AIL6donor_gain0.81
7:22727177:A:AGIL6acceptor_gain0.81
7:22727178:G:GGIL6acceptor_gain0.81
7:22726262:AGTAG:AIL6donor_loss0.77
7:22727178:GGACT:GIL6acceptor_gain0.76
7:22726145:T:TAIL6donor_gain0.75
7:22726146:A:AAIL6donor_gain0.75
7:22726255:AGAG:AIL6donor_gain0.74
7:22726662:A:GIL6donor_gain0.74
7:22727170:T:GIL6acceptor_loss0.72
7:22726257:AG:AIL6donor_gain0.72
7:22726258:GG:GIL6donor_gain0.72
7:22727173:A:AGIL6acceptor_loss0.71
7:22727168:A:AGIL6acceptor_gain0.70
7:22726723:GAAAC:GIL6donor_gain0.70
7:22727178:GGA:GIL6acceptor_gain0.65
7:22727171:A:AGIL6acceptor_gain0.63
7:22726053:G:GTIL6donor_gain0.63
7:22726724:A:TIL6donor_gain0.62
7:22727219:C:AIL6acceptor_gain0.62
7:22727226:G:TIL6acceptor_gain0.59
7:22726263:G:CIL6donor_loss0.58
7:22727175:ATAG:AIL6acceptor_gain0.55
7:22727139:TGAG:TIL6acceptor_gain0.55
7:22726670:T:TAIL6donor_gain0.56
7:22726671:A:AAIL6donor_gain0.56
7:22726669:G:TIL6donor_gain0.55
7:22726675:T:TGIL6donor_gain0.55
7:22727141:A:TIL6acceptor_gain0.51
AlphaMissense Predictions (Total: 1,395) TOP 50 Predicted Pathogenic Missense Variants
VariantProtein ChangeAM PathogenicityClassification
7:22727473:G:AG17R0.933likely_pathogenic
7:22727474:G:AG17E0.891likely_pathogenic
7:22727498:C:AA25D0.726likely_pathogenic
7:22727477:T:GL18R0.695likely_pathogenic
7:22727486:T:AV21E0.681likely_pathogenic
7:22727483:T:GL20R0.659likely_pathogenic
7:22727500:T:CF26L0.657likely_pathogenic
7:22727502:C:AF26L0.657likely_pathogenic
7:22727502:C:GF26L0.657likely_pathogenic
7:22727477:T:AL18Q0.654likely_pathogenic
7:22727471:T:AL16Q0.631likely_pathogenic
7:22727471:T:GL16R0.631likely_pathogenic
7:22727477:T:CL18P0.628likely_pathogenic
7:22727480:T:GL19R0.609likely_pathogenic
7:22727464:T:CF14L0.600likely_pathogenic
7:22727466:C:AF14L0.600likely_pathogenic
7:22727466:C:GF14L0.600likely_pathogenic
7:22727473:G:TG17W0.595likely_pathogenic
7:22727480:T:AL19H0.585likely_pathogenic
7:22727449:T:CF9L0.550ambiguous
7:22727451:C:AF9L0.550ambiguous
7:22727451:C:GF9L0.550ambiguous
7:22727459:T:AV12D0.519ambiguous
7:22727471:T:CL16P0.454ambiguous
7:22727480:T:CL19P0.452ambiguous
7:22727495:C:AA24D0.450ambiguous
7:22727483:T:CL20P0.432ambiguous
7:22727461:G:CA13P0.406ambiguous
7:22727498:C:TA25V0.405ambiguous
7:22727497:G:CA25P0.398ambiguous
7:22727465:T:CF14S0.380ambiguous
7:22727492:C:GP23R0.379ambiguous
7:22727501:T:GF26C0.343ambiguous
7:22727492:C:AP23H0.341ambiguous
7:22727465:T:AF14Y0.344ambiguous
7:22727468:C:AS15Y0.324likely_benign
7:22727497:G:AA25T0.320likely_benign
7:22727453:G:AG10D0.299likely_benign
7:22727501:T:CF26S0.287likely_benign
7:22727462:C:TA13V0.287likely_benign
7:22727462:C:AA13D0.780likely_pathogenic
7:22727274:G:AA13T0.274likely_benign

Section 7: Biological Pathways & Gene Ontology Reactome Pathways (Total: 11)

Pathway IDPathway NameDisease Pathway
R-HSA-1059683Interleukin-6 signalingNo
R-HSA-110056MAPK3 (ERK1) activationNo
R-HSA-112411MAPK1 (ERK2) activationNo
R-HSA-2559582Senescence-Associated Secretory Phenotype (SASP)No
R-HSA-381426Regulation of IGF transport and uptake by IGFBPsNo
R-HSA-6783783Interleukin-10 signalingNo
R-HSA-6785807Interleukin-4 and Interleukin-13 signalingNo
R-HSA-8853884Transcriptional Regulation by VENTXNo
R-HSA-8957275Post-translational protein phosphorylationNo
R-HSA-9660821ADORA2B mediated anti-inflammatory cytokines productionYes
R-HSA-9662834CD163 mediating an anti-inflammatory responseYes
Gene Ontology Annotations (Total: 97) Biological Process (Count: 83) - TOP 20
GO IDTerm
GO:0006953acute-phase response
GO:0006954inflammatory response
GO:0006959humoral immune response
GO:0007259cell surface receptor signaling pathway via JAK-STAT
GO:0019221cytokine-mediated signaling pathway
GO:0070102interleukin-6-mediated signaling pathway
GO:0002675positive regulation of acute inflammatory response
GO:0008284positive regulation of cell population proliferation
GO:0008285negative regulation of cell population proliferation
GO:0032755positive regulation of interleukin-6 production
GO:0042102positive regulation of T cell proliferation
GO:0043066negative regulation of apoptotic process
GO:0050871positive regulation of B cell activation
GO:0045944positive regulation of transcription by RNA polymerase II
GO:0043410positive regulation of MAPK cascade
GO:0046427positive regulation of receptor signaling pathway via JAK-STAT
GO:0032760positive regulation of tumor necrosis factor production
GO:0051607defense response to virus
GO:0097421liver regeneration
GO:0030168platelet activation
Molecular Function (Count: 4)
GO IDTerm
GO:0005125cytokine activity
GO:0005138interleukin-6 receptor binding
GO:0008083growth factor activity
GO:0042802identical protein binding
Cellular Component (Count: 5)
GO IDTerm
GO:0005576extracellular region
GO:0005615extracellular space
GO:0005788endoplasmic reticulum lumen
GO:0005896interleukin-6 receptor complex

Section 8: Protein Interactions & Molecular Networks STRING Protein-Protein Interactions (Total: 9,188) TOP 50 Highest-Confidence Interacting Proteins

Partner UniProtPartner GeneConfidence Score
P05231IL6 (self)999
P08887IL6R999
P01585IFNB1999
P08700IL3998
P14778IL1R1997
P19438TNFRSF1A997
P40189IL6ST997
P01584IL1B990
P15248IL9990
P01375TNF989
P22301IL10988
P13232CXCL1984
P01579IFNG982
P05112IL4979
P05113IL5977
P10145CXCL8977
P01583IL1A975
P09919CSF3972
P29597TYK2972
O00206TLR4971
P02741CRP969
Q16552IL17A969
P01730CD4967
P40763STAT3965
P23458JAK1960
P20809IL11957
P13500CCL2954
O60674JAK2953
Q14116IL18953
P01023A2M950
P04141CSF2945
P78397STAT4945
P00533EGFR943
P19838NFKB1943
P42224STAT1941
O60603TLR2939
P45983MAPK8938
P09341CXCL1936
P01308INS933
P01137TGFB1932
P01732CD8A931
P05362ICAM1931
P14780MMP9931
P35225IL13930
P35354PTGS2927
P81172TSLP927
P02768ALB926
P02778CXCL10924
P01562IFNA1923
P21583SCF921
IntAct Interactions (Total: 35)
Interaction IDPartner APartner BTypeConfidence
EBI-1036752IL6IL6Rphysical association0.910
EBI-25299566IL6RIL6direct interaction0.910
EBI-52314950IL6STIL6association0.840
EBI-64053718IL6IL6STphysical association0.840
EBI-25299674IL6SORL1direct interaction0.570
EBI-25396627SORT1IL6direct interaction0.570
EBI-52312386IL6IL6direct interaction0.560
EBI-6592703IL6ZBTB16proximity0.520
EBI-13915421FAM20CIL6phosphorylation reaction0.440
EBI-64053738IL6MUSKphysical association0.400
EBI-64053678FCGR3BIL6physical association0.400
Protein Similarity - ESM2 Structural/Embedding (Total: 60) TOP 20 Structurally Similar Proteins
UniProt IDSimilarity CountTop SimilarityAvg Similarity
P26892501.00000.9926
P79341501.00000.9943
Q2MH06501.00000.9924
Q5I6E3501.00000.9943
Q6V919501.00000.9924
P05231500.99990.9944
P29455500.99990.9933
P46650500.99990.9944
P51494500.99990.9945
P54349500.99990.9929
Q28319500.99990.9930
Q865W7500.99990.9942
Q865X6500.99990.9941
O02814500.99980.9930
Q9TU27500.99980.9933
Q28747500.99970.9929
P48091500.99970.9924
Q865Y2500.99970.9926
Q9XT80500.99970.9932
P15018500.99960.9896
Protein Similarity - DIAMOND Sequence Homology (Total: 28) TOP 20 Homologous Proteins
UniProt IDIdentity (%)Bitscore
Q2MH06100.0403
Q6V919100.0403
P7934199.5401
P2689299.0400
Q5I6E399.5400
Q865W798.6405
Q865X698.6403
P5149498.6398
P4665098.1396
P0523196.7388
Q25BC295.7383
P4132395.7380
Q9XT8096.6382
Q2874796.6380
P2060785.3362
P0850585.3360
Q8MKH087.7350
Q2881982.1333
A3FBE996.0330
P2689382.0330

Section 9: Transcription Factor Regulatory Data Note: IL6 is NOT a transcription factor. However, it regulates gene expression indirectly through signaling cascades. Downstream Targets (Genes Regulated BY IL6 Signaling) - Total: 8

Target GeneRegulation Type
CXCL8Activation
GCH1Repression
HAMPActivation
IL10Activation
IL1BActivation
NOS2Activation
TNFActivation
VTCN1Activation
Upstream Regulators (TFs That Regulate IL6) - Total: 169 TOP 50 Transcription Factors Regulating IL6 (High Confidence)
TF GeneRegulationConfidence
NFKB1ActivationHigh
NFKBActivationHigh
RELAActivationHigh
STAT3ActivationHigh
SP1ActivationHigh
JUNActivationHigh
JUNBActivationHigh
JUNDActivationHigh
FOSActivationLow
FOSL1ActivationHigh
AP1ActivationHigh
CEBPBActivationHigh
CEBPDActivationHigh
CREB1ActivationHigh
ATF1ActivationHigh
ATF2ActivationHigh
ATF3ActivationHigh
HIF1AActivationLow
HSF1ActivationHigh
IRF1ActivationHigh
SPI1ActivationHigh
KLF4ActivationHigh
MEF2AActivationHigh
TP53ActivationHigh
TP63ActivationHigh
RORCActivationHigh
RBPJActivationHigh
ESR1ActivationHigh
FOXO1ActivationHigh
NR3C1RepressionHigh
BCL6RepressionHigh
BACH1RepressionHigh
NFE2L2RepressionHigh
STAT1RepressionHigh
PRDM1RepressionHigh
PPARGRepressionHigh
SMAD3RepressionHigh
SMAD7RepressionHigh
NR1D1RepressionHigh
NFAT5RepressionHigh
EGR1RepressionHigh
CEBPGRepressionHigh
RELRepressionHigh
DDIT3ActivationHigh
GBX2ActivationHigh
NKX2-1Activation-
NKX6-1Activation-
TNFActivation-
IL1BActivation-
TLR4Activation-

Section 10: Drug & Pharmacology Data ChEMBL Target Information

AttributeValue
ChEMBL Target IDCHEMBL1795129
Target NameInterleukin-6
Target TypeSINGLE PROTEIN
Targeting Molecules (Total: 100+) TOP 30 Molecules by Development Phase
ChEMBL IDNameTypeHighest Development Phase
CHEMBL131PREDNISOLONESmall moleculePhase 4 (Approved)
CHEMBL3137316FOSDAGROCORATSmall moleculePhase 2
CHEMBL3358954BI 653048Small moleculePhase 1
CHEMBL273019BERGENINSmall moleculeNatural product (-1)
CHEMBL4648362GSK789UnknownPhase 0
CHEMBL478482-Small moleculePhase 0
CHEMBL2391027-Small moleculePhase 0
CHEMBL3647440-48Various compoundsSmall moleculePreclinical
PharmGKB Drug-Gene Interactions (Total: 45) Key Drugs with IL6 Associations
PharmGKB IDDrug NameTypeClinical AnnotationsVariant Annotations
PA165292659TocilizumabDrug623
PA449515EtanerceptDrug1599
PA452639InfliximabDrug21128
PA10004AdalimumabDrug18118
PA164713366TNF-alpha InhibitorsDrug Class122508
PA451578TacrolimusDrug821120
PA449167CyclosporineDrug26157
PA128406956FluorouracilDrug1971031
PA449014CisplatinDrug123541
PA449383DocetaxelDrug81247
PA448497AspirinDrug79317
PA450085IrinotecanProdrug54434
PA450550MorphineDrug43263
PA451241RibavirinDrug46346
PA164749390Peginterferon alfa-2aDrug31211
PA452618OpioidsDrug Class2881395
PA449599FentanylDrug48252
PA10066DuloxetineDrug73101
PA449594FenofibrateDrug1751
PA451250RifampinDrug24182

Section 11: Expression Profiles Bgee Expression Summary

AttributeValue
GeneIL6 (ENSG00000136244)
SpeciesHomo sapiens
Expression BreadthUbiquitous
Total Present Calls200
Maximum Expression Score97.93
Tissue Expression (TOP 30 by Expression Score)
Anatomical EntityExpressionScoreRank
Cartilage tissuepresent97.93967
Vena cavapresent97.561,140
Gall bladderpresent95.332,180
Left uterine tubepresent90.824,280
Omental fat padpresent90.734,320
Peritoneumpresent90.674,350
Primordial germ cell in gonadpresent89.105,080
Smooth muscle tissuepresent88.295,460
Mucosa of urinary bladderpresent88.175,520
Adipose tissue of abdominal regionpresent88.105,550
Upper lobe of left lungpresent87.975,610
Upper lobe of lungpresent86.396,350
Islet of Langerhanspresent85.776,640
Male germ line stem cellpresent85.436,790
Olfactory segment of nasal mucosapresent85.186,910
Vermiform appendixpresent84.697,140
Lungpresent82.987,940
Tracheapresent81.488,640
Ascending aortapresent81.298,720
Thoracic aortapresent80.798,960
Right atrium auricular regionpresent80.788,960
Pericardiumpresent80.099,280
Cardiac atriumpresent79.759,440
Lower lobe of lungpresent78.939,820
Muscle layer of sigmoid colonpresent78.5110,000
Lymph nodepresent78.3410,100
Caecumpresent78.2510,100
Seminal vesiclepresent78.1910,200
Mucosa of stomachpresent77.8810,300
Rectumpresent76.9410,800
Single-Cell Expression Data
Dataset IDDescriptionSpeciesCell Count
E-CURD-10Single-cell transcriptome profiling for metastatic renal cell carcinoma patient-derived cells and xenograftsHomo sapiens118
E-MTAB-8142Single cell RNA-seq of human breast skin cellsHomo sapiens809,675

Section 12: Disease Associations Mendelian/Monogenic Disease Links GenCC - Gene Curation Coalition

DiseaseClassificationInheritanceSubmitter
Kaposi sarcoma, susceptibility to (OMIM:148000)DefinitiveAutosomal dominantG2P
Orphanet Rare Disease
Orphanet IDDisease NameTypeAssociated Genes
85414Systemic-onset juvenile idiopathic arthritisDisease4 genes
Phenotype Associations - HPO (Total: 50)
HPO IDPhenotype
HP:0000006Autosomal dominant inheritance
HP:0001945Fever
HP:0001369Arthritis
HP:0002829Arthralgia
HP:0001386Joint swelling
HP:0005681Juvenile rheumatoid arthritis
HP:0001744Splenomegaly
HP:0002240Hepatomegaly
HP:0002716Lymphadenopathy
HP:0002664Neoplasm
HP:0100726Kaposi's sarcoma
HP:0001824Weight loss
HP:0000969Edema
HP:0000988Skin rash
HP:0002960Autoimmunity
HP:0011227Elevated circulating C-reactive protein concentration
HP:0003565Elevated erythrocyte sedimentation rate
HP:0003281Increased circulating ferritin concentration
HP:0000819Diabetes mellitus
HP:0005978Type II diabetes mellitus
HP:0000855Insulin resistance
HP:0003074Hyperglycemia
HP:0001993Ketoacidosis
HP:0002591Polyphagia
HP:0001959Polydipsia
HP:0000103Polyuria
HP:0000938Osteopenia
HP:0001701Pericarditis
HP:0002202Pleural effusion
HP:0004890Elevated pulmonary artery pressure
HP:0002014Diarrhea
HP:0002027Abdominal pain
HP:0002037Inflammation of the large intestine
HP:0100279Ulcerative colitis
HP:0100280Crohn's disease
HP:0005214Intestinal obstruction
HP:0100819Intestinal fistula
HP:0011107Recurrent aphthous stomatitis
HP:0032154Aphthous ulcer
HP:0012122Anterior uveitis
HP:0000099Glomerulonephritis
HP:0002408Cerebral arteriovenous malformation
HP:0033430Non-infectious meningitis
HP:0001510Growth delay
HP:0001034Hypermelanotic macule
HP:0001442Typified by somatic mosaicism
HP:0010982Polygenic inheritance
HP:0003584Late onset
HP:0031819Increased waist to hip ratio
HP:0410050Decreased level of 1,5 anhydroglucitol in serum
GWAS Associations (Total: 27)
Study IDDisease/TraitMapped Genep-value
GCST006629_9Pulse pressureIL6-AS1, STEAP1B, IL62×10⁻²⁵
GCST007269_116Pulse pressureIL62×10⁻¹⁹
GCST010043_154AsthmaIL6-AS1, IL6, STEAP1B4×10⁻¹⁴
GCST007614_15C-reactive protein levelsSTEAP1B8×10⁻¹⁴
GCST000933_2C-reactive proteinSTEAP1B4×10⁻¹¹
GCST008474_7Peripheral artery diseaseIL6 - MTCYBP424×10⁻¹¹
GCST009798_72AsthmaIL6-AS1, IL6, STEAP1B3×10⁻¹⁰
GCST007995_51Asthma (childhood onset)IL6 - MTCYBP425×10⁻¹⁰
GCST008916_85AsthmaMTCYBP42 - TOMM71×10⁻⁹
GCST003425_1LongevityIL62×10⁻⁹
GCST008362_83Birth weightSTEAP1B2×10⁻⁹
GCST008363_65Offspring birth weightMTCYBP42 - TOMM72×10⁻⁹
GCST002147_24FibrinogenTOMM77×10⁻⁹
GCST006575_49Takayasu arteritisIL67×10⁻⁹
GCST009870_24Calcific aortic valve stenosisIL61×10⁻⁸
GCST001066_8Dialysis-related mortalitySTEAP1B4×10⁻⁶
GCST008601_3Longevity (age >99th percentile)IL61×10⁻⁸
GCST008600_5Longevity (age >90th percentile)IL65×10⁻⁸
GCST003137_1Cerebrospinal fluid clusterin levels in APOEe4- carriersIL6-AS1, STEAP1B, IL67×10⁻⁸
GCST007800_15Asthma (childhood onset)IL6 - MTCYBP423×10⁻⁸
GCST005528_19Juvenile idiopathic arthritisMTCYBP42 - TOMM73×10⁻⁸
GCST006575_18Takayasu arteritisIL62×10⁻⁷
GCST009597_173Multiple sclerosisIL6 - MTCYBP428×10⁻⁷
GCST007798_107AsthmaIL6 - MTCYBP423×10⁻⁶
GCST008363_64Offspring birth weightSTEAP1B6×10⁻⁷
GCST007994_10Asthma (age of onset)IL6 - MTCYBP428×10⁻⁶

SUMMARY STATISTICS

CategoryCount
Gene Identifiers7 databases
Ensembl Transcripts10
RefSeq Transcripts (Human)6
CCDS IDs3
Exons (canonical)5
UniProt Entries8
Protein Domains4
PDB Structures17
Cross-species Orthologs3
ClinVar Variants25
SpliceAI Predictions526
AlphaMissense Predictions1,395
Reactome Pathways11
GO Annotations97
STRING Interactions9,188
IntAct Interactions35
ESM2 Similar Proteins60
DIAMOND Homologs28
TFs Regulating IL6169
ChEMBL Targeting Molecules100+
PharmGKB Drug Associations45
Tissue Expression Calls200
HPO Phenotypes50
GWAS Associations27

Reference compiled from biobtree integrated biological databases. Data current as of database versions indexed.