IFNB1

Summary

IFNB1 (interferon beta 1, HGNC:5434) is a protein-coding gene on chromosome 9p21.3, encoding Interferon beta (P01574). Type I interferon cytokine that plays a key role in the innate immune response to infection, developing tumors and other inflammatory stimuli.

This gene encodes a cytokine that belongs to the interferon family of signaling proteins, which are released as part of the innate immune response to pathogens. The protein encoded by this gene belongs to the type I class of interferons, which are important for defense against viral infections. In addition, type I interferons are involved in cell differentiation and anti-tumor defenses. Following secretion in response to a pathogen, type I interferons bind a homologous receptor complex and induce transcription of genes such as those encoding inflammatory cytokines and chemokines. Overactivation of type I interferon secretion is linked to autoimmune diseases. Mice deficient for this gene display several phenotypes including defects in B cell maturation and increased susceptibility to viral infection.

Source: NCBI Gene 3456 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 34 total
• Druggable target: yes
• MANE Select transcript: NM_002176

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:5434
Approved symbol	IFNB1
Name	interferon beta 1
Location	9p21.3
Locus type	gene with protein product
Status	Approved
Aliases	IFB, IFF
Ensembl gene	ENSG00000171855
Ensembl biotype	protein_coding
OMIM	147640
Entrez	3456

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000380232

RefSeq mRNA: 1 — MANE Select: NM_002176 NM_002176

CCDS: CCDS6495

Canonical transcript exons

ENST00000380232 — 1 exons

Exon	Start	End
ENSE00001484173	21077104	21077942

Expression profiles

Bgee: expression breadth tissue_specific, 8 present calls, max score 61.48.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 5.6378 / max 1843.2841, expressed in 72 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
100203	5.6378	72

Top tissues by expression

211 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
vena cava	UBERON:0004087	61.48	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	57.94	gold quality
superficial temporal artery	UBERON:0001614	55.43	gold quality
quadriceps femoris	UBERON:0001377	53.62	gold quality
vastus lateralis	UBERON:0001379	53.55	gold quality
deltoid	UBERON:0001476	52.46	gold quality
germinal epithelium of ovary	UBERON:0001304	51.95	gold quality
trabecular bone tissue	UBERON:0002483	51.07	gold quality
Brodmann (1909) area 46	UBERON:0006483	48.90	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	48.33	gold quality
biceps brachii	UBERON:0001507	48.17	gold quality
substantia nigra pars compacta	UBERON:0001965	47.30	gold quality
subthalamic nucleus	UBERON:0001906	47.24	gold quality
substantia nigra pars reticulata	UBERON:0001966	46.89	gold quality
jejunum	UBERON:0002115	46.85	gold quality
pharyngeal mucosa	UBERON:0000355	46.62	gold quality
oocyte	CL:0000023	45.49	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	45.31	silver quality
tongue	UBERON:0001723	45.17	gold quality
dorsal plus ventral thalamus	UBERON:0001897	44.91	gold quality
body of tongue	UBERON:0011876	44.83	gold quality
inferior vagus X ganglion	UBERON:0005363	44.69	gold quality
granulocyte	CL:0000094	44.48	silver quality
trachea	UBERON:0003126	44.16	gold quality
superior surface of tongue	UBERON:0007371	43.92	gold quality
colonic epithelium	UBERON:0000397	43.75	silver quality
skeletal muscle tissue	UBERON:0001134	43.60	gold quality
ventral tegmental area	UBERON:0002691	43.32	gold quality
epithelium of nasopharynx	UBERON:0001951	43.10	gold quality
bone marrow	UBERON:0002371	43.00	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.31

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

2 targets.

Target	Regulation
MGMT	Repression
XAF1	Activation

Upstream regulators (CollecTRI, top): AIRE, AP1, ATF2, ATF3, CREB1, CREBBP, DLX4, ELF4, EZH2, FOS, FOXO3, HMGA1, HMGA2, HOXB2, IFI16, IRF1, IRF2, IRF3, IRF4, IRF5, IRF6, IRF7, IRF8, IRF9, JUN, KLF4, LRRFIP1, MAFB, MAVS, MBD2, MORC3, MYC, NFKB1, NFKB2, NFKB, NFKBIA, NFKBIB, NKRF, NR1I2, PAX1

miRNA regulators (miRDB)

11 targeting IFNB1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-507	99.97	70.11	1915
HSA-MIR-557	99.96	70.01	1640
HSA-MIR-767-5P	99.95	70.85	993
HSA-MIR-8063	99.91	69.76	3146
HSA-MIR-32-3P	99.36	68.20	2517
HSA-MIR-3692-5P	99.29	67.04	1421
HSA-MIR-10522-5P	99.26	68.50	2087
HSA-MIR-4704-3P	98.28	69.33	1300

Literature-anchored findings (GeneRIF, showing 40)

• effect on beta-chemokine expression in differentiating human peripheral blood monocytes (PMID:11781186)
• IRF-3-dependent, NFkappa B- and JNK-independent activation of the 561 and IFN-beta genes in response to double-stranded RNA (PMID:11972054)
• mediates terminal differentiation of human cortical thymic epithelial cells and in particular measles virus-infected cells (PMID:12050353)
• suppresses the proliferations of melanoma cells in an autocrine manner; and is also expressed by melanoma cells and melanocytes (PMID:12096926)
• IFN-beta in combination with TRAIL/Apo2L synergistically induces apoptosis and inhibits melanoma cell proliferation in vitro, at least in part by cleavage of the X-linked inhibitor of apoptosis (XIAP). (PMID:12097388)
• IL-1 functions to limit CMV spread by increasing the expression of IFN-beta, which in turn reduces production of infectious virus. (PMID:12184914)
• Expression profiling and regulation of liver metastases in colorectal cancer cells (PMID:12405292)
• primarily mediates effects on megakaryocytic cells and platelets rather than on thrombopoietin-producing hepatocytes (PMID:12581491)
• IFN-beta inhibits neutrophil apoptosis in a phosphatidylinositol 3-kinase-dependent manner, which requires activation of protein kinase C-delta and induction of NF-kappa B-regulated genes. (PMID:12847277)
• interferon beta has a role in TNFalpha differentially regulating the expression of proinflammatory genes and DNA synthesis (PMID:14519761)
• lipopolysaccharide-TLR4-mediated activation of IFN-beta requires the adapter complex of TICAM-2 and TICAM-1 (PMID:14519765)
• Influenza B virus nonstructural protein (NS1)functions as a beta interferon antagonist (PMID:14747551)
• interferon beta synthesis in human macrophages is blocked by oxidized LDL by interfering with IRF3 activation (PMID:15107417)
• Hantaann virus induced the production of beta interferon (IFN-beta) in HUVECS (human umbilical vein endothelial cells), whereas expression of this cytokine was barely detectable in the supernatant or in extracts from Tula virus-infected HUVECs (PMID:15163707)
• suppression of IFN signaling and IFN production by SOC3 occurs during HSV-1 infection (PMID:15163721)
• HSV-1 infection can block the accumulation of IFN-beta triggered by Sendai virus (SeV) infection by blocking the nuclear accumulation of activated IRF-3. (PMID:15280450)
• Expression by cultured bovine BMECs developed as a model of the blood brain barrier. (PMID:15340234)
• The antiviral cytokine interferon beta breaks peripheral tolerance to pancreatic beta cells, influences insulitis progression and contributes to autoimmunity in diabetes and nondiabetes-prone mice. (PMID:15557158)
• type I interferons interact with receptor components results and have roles in the activation of a number of signaling pathways [review] (PMID:15621727)
• Human recombinant IFN-beta induces interleukin (IL)-6 production by U251 astrocytoma cells without induction of IL-1 beta, tumor necrosis factor-alpha and nitric oxide. (PMID:15652402)
• hepatocytes contain two distinct antiviral signaling pathways leading to expression of intereron beta, one dependent upon TLR3 and the other dependent on RIG-I, with little cross-talk between these pathways (PMID:15737993)
• Specific silencing of p53 abrogated the antiviral effect of SD.IFN-beta, suggesting that the tumor suppressor is critically involved in antiviral defense mediated by intracellular IFN. (PMID:15752772)
• demonstrated that inhibition of IFN induction by the HCV NS3/4A protease occurs upstream of the noncanonical IKK-related kinases IKK and TBK-1 & interferes with RIG-I-mediated and TRIF-mediated pathways leading to IRF-3 phosphorylation and activation (PMID:15767399)
• IFN-beta transgene protects against ocular herpes simplex virus type 1 infection in vivo and in vitro via selective up-regulation of the oligoadenylate synthetase (OAS)-1a pathway and by altering protein phosphorylation in antiviral signaling cascades. (PMID:16002711)
• far upstream factor binding sites within the IFN-beta domains of both humans and mice (PMID:16185826)
• Luciferase reporter analyses identified tandem interferon response factor-binding sites in positive regulatory domains I and III of the IFNB promoter as a key target of PKA inhibition. (PMID:16504464)
• human PNPase mRNA upregulation by beta-interferon has no effect on protein level in melanoma cell lines (PMID:16505900)
• mechanism of IFN-beta induction by human cytomegalovirus (HCMV) was investigated; results suggests that PI3-K and/or NF-kappaB may be related with the induction pathway of IFN-beta by HCMV (PMID:16545883)
• A comparison of Sendai virus stocks containing various copyback and internal deletion DI genomes for their ability to activate reporter genes driven by the IFNbeta promoter is presented. (PMID:16631220)
• In vivo induction of ITGA-11 is detected in spleen and lungs of human recombinant IFN-beta treated BALB/c mice. (PMID:16697656)
• Might exert its anti-inflammatory effects mainly by reducing the antigen-presenting capacity of central nervous system-specific antigen-presenting cells, which in turn inhibits the effector functions of encephalitogenic T cells. (PMID:16951313)
• We discuss here the capacity of YY1 to either repress (through histone deacetylase recruitment) or activate (through CBP recruitment) IFN-beta gene expression according to the occupancy of either only its -90 site or both its -122 and -90 sites. (PMID:16954376)
• IPS-1, IRF3, and IFNbeta have critical roles in Legionella infection of lung epithelium (PMID:16984921)
• IFN-beta and a number of IFN-inducible genes were upregulated by transfection of the PTX1-VP22 fusion protein in the prostate cancer cell line PC-3 (PMID:16989575)
• The NS1 of influenza A virus binds to RIG-I and inhibits downstream activation of IRF-3, preventing the transcriptional induction of IFN-beta. (PMID:17079289)
• Both the cytoplasmic and TLR3-mediated dsRNA recognition pathways converge upon NAP1 for the activation of the IRF-3 and IFN-beta promoter. (PMID:17142768)
• IFN-beta potently induces endothelial chemokine expression at the transcriptional level (PMID:17167270)
• ability of bICP0 to reduce interferon regulatory factor 3 protein levels is important with respect to disarming the interferon response during productive infection (PMID:17215277)
• Antiviral gene expression in RA, especially due to TLR ligands and TNFalpha, is dependent on IKKepsilon and IRF-3, and this pathway plays a key role in the production of type I IFNs and chemokines such as RANTES. (PMID:17328045)
• Bovine parainfluenza virus type 3 C and V proteins were found to suppress double-stranded RNA-stimulated IFN-beta production. (PMID:17548221)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	ifnphi2	ENSDARG00000069012
danio_rerio	ifnphi3	ENSDARG00000070676
mus_musculus	Ifnb1	ENSMUSG00000048806
rattus_norvegicus	Ifnb1	ENSRNOG00000006268

Paralogs (16): IFNA6 (ENSG00000120235), IFNA8 (ENSG00000120242), IFNA21 (ENSG00000137080), IFNA5 (ENSG00000147873), IFNA16 (ENSG00000147885), IFNK (ENSG00000147896), IFNW1 (ENSG00000177047), IFNE (ENSG00000184995), IFNA10 (ENSG00000186803), IFNA2 (ENSG00000188379), IFNA1 (ENSG00000197919), IFNA7 (ENSG00000214042), IFNA14 (ENSG00000228083), IFNA13 (ENSG00000233816), IFNA17 (ENSG00000234829), IFNA4 (ENSG00000236637)

Protein

Protein identifiers

Interferon beta — P01574 (reviewed: P01574)

Alternative names: Fibroblast interferon

All UniProt accessions (2): P01574, A0A7R8GV38

UniProt curated annotations — full annotation on UniProt →

Function. Type I interferon cytokine that plays a key role in the innate immune response to infection, developing tumors and other inflammatory stimuli. Signals via binding to high-affinity (IFNAR2) and low-affinity (IFNAR1) heterodimeric receptor, activating the canonical Jak-STAT signaling pathway resulting in transcriptional activation or repression of interferon-regulated genes that encode the effectors of the interferon response, such as antiviral proteins, regulators of cell proliferation and differentiation, and immunoregulatory proteins. Signals mostly via binding to a IFNAR1-IFNAR2 heterodimeric receptor, but can also function with IFNAR1 alone and independently of Jak-STAT pathways. Elicits a wide variety of responses, including antiviral and antibacterial activities, and can regulate the development of B-cells, myelopoiesis and lipopolysaccharide (LPS)-inducible production of tumor necrosis factor. Plays a role in neuronal homeostasis by regulating dopamine turnover and protecting dopaminergic neurons: acts by promoting neuronal autophagy and alpha-synuclein clearance, thereby preventing dopaminergic neuron loss. IFNB1 is more potent than interferon-alpha (IFN-alpha) in inducing the apoptotic and antiproliferative pathways required for control of tumor cell growth.

Subunit / interactions. Monomer.

Subcellular location. Secreted.

Similarity. Belongs to the type-I (or alpha/beta) interferon family.

RefSeq proteins (1): NP_002167* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000471	Interferon_alpha/beta/delta	Family
IPR009079	4_helix_cytokine-like_core	Homologous_superfamily

Pfam: PF00143

UniProt features (17 total): helix 8, turn 2, sequence variant 2, signal peptide 1, chain 1, modified residue 1, glycosylation site 1, disulfide bond 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
1AU1	X-RAY DIFFRACTION	2.2

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P01574-F1	89.60	0.69

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (1): 24

Disulfide bonds (1): 52–162

Glycosylation sites (1): 101

Function

Pathways and Gene Ontology

Reactome pathways

8 pathways

ID	Pathway
R-HSA-2559580	Oxidative Stress Induced Senescence
R-HSA-909733	Interferon alpha/beta signaling
R-HSA-912694	Regulation of IFNA/IFNB signaling
R-HSA-918233	TRAF3-dependent IRF activation pathway
R-HSA-933541	TRAF6 mediated IRF7 activation
R-HSA-9705671	SARS-CoV-2 activates/modulates innate and adaptive immune responses
R-HSA-983231	Factors involved in megakaryocyte development and platelet production
R-HSA-9833109	Evasion by RSV of host interferon responses

MSigDB gene sets: 334 (showing top): REACTOME_DDX58_IFIH1_MEDIATED_INDUCTION_OF_INTERFERON_ALPHA_BETA, GOBP_REGULATION_OF_CELL_ACTIVATION, CREL_01, GOBP_RESPONSE_TO_NITROGEN_COMPOUND, GOBP_REGULATION_OF_AUTOPHAGY, GOBP_NEGATIVE_REGULATION_OF_CELL_DEVELOPMENT, GOBP_CELLULAR_RESPONSE_TO_VIRUS, REACTOME_INNATE_IMMUNE_SYSTEM, GOBP_NEGATIVE_REGULATION_OF_ADAPTIVE_IMMUNE_RESPONSE, REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, GOBP_RESPONSE_TO_PEPTIDE, GOBP_B_CELL_ACTIVATION, GOBP_T_CELL_ACTIVATION_INVOLVED_IN_IMMUNE_RESPONSE, GOBP_REGULATION_OF_ADAPTIVE_IMMUNE_RESPONSE, GOBP_NEGATIVE_REGULATION_OF_PRODUCTION_OF_MOLECULAR_MEDIATOR_OF_IMMUNE_RESPONSE

GO Biological Process (41): adaptive immune response (GO:0002250), T cell activation involved in immune response (GO:0002286), B cell activation involved in immune response (GO:0002312), natural killer cell activation involved in immune response (GO:0002323), humoral immune response (GO:0006959), cell surface receptor signaling pathway (GO:0007166), cell surface receptor signaling pathway via JAK-STAT (GO:0007259), response to virus (GO:0009615), positive regulation of autophagy (GO:0010508), cytokine-mediated signaling pathway (GO:0019221), natural killer cell activation (GO:0030101), cellular response to interferon-beta (GO:0035458), B cell proliferation (GO:0042100), response to exogenous dsRNA (GO:0043330), negative regulation of viral genome replication (GO:0045071), innate immune response (GO:0045087), positive regulation of innate immune response (GO:0045089), regulation of MHC class I biosynthetic process (GO:0045343), negative regulation of T cell differentiation (GO:0045581), positive regulation of transcription by RNA polymerase II (GO:0045944), defense response to virus (GO:0051607), type I interferon-mediated signaling pathway (GO:0060337), neuron cellular homeostasis (GO:0070050), cellular response to exogenous dsRNA (GO:0071360), cell surface receptor signaling pathway via STAT (GO:0097696), cellular response to virus (GO:0098586), negative regulation of Lewy body formation (GO:0140123), negative regulation of T-helper 2 cell cytokine production (GO:2000552), positive regulation of apoptotic signaling pathway (GO:2001235), negative regulation of immune system process (GO:0002683), regulation of transcription by RNA polymerase II (GO:0006357), response to stress (GO:0006950), defense response (GO:0006952), immune response (GO:0006955), signal transduction (GO:0007165), positive regulation of metabolic process (GO:0009893), leukocyte activation (GO:0045321), negative regulation of multicellular organismal process (GO:0051241), cellular response to dsRNA (GO:0071359), antiviral innate immune response (GO:0140374)

GO Molecular Function (5): cytokine activity (GO:0005125), cytokine receptor binding (GO:0005126), type I interferon receptor binding (GO:0005132), chloramphenicol O-acetyltransferase activity (GO:0008811), protein binding (GO:0005515)

GO Cellular Component (2): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615)

Reactome top-level categories

Rollup of top-7 pathways:

Category	Pathways
DDX58/IFIH1-mediated induction of interferon-alpha/beta	2
Cellular Senescence	1
Interferon Signaling	1
Interferon alpha/beta signaling	1
SARS-CoV-2-host interactions	1
Hemostasis	1
RSV-host interactions	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
immune response	5
lymphocyte activation involved in immune response	3
B cell activation	2
innate immune response	2
cellular response to cytokine stimulus	2
T cell activation	1
natural killer cell activation	1
signal transduction	1
cell surface receptor signaling pathway via STAT	1
response to other organism	1
autophagy	1
positive regulation of catabolic process	1
regulation of autophagy	1
cell surface receptor signaling pathway	1
lymphocyte activation	1
response to interferon-beta	1
lymphocyte proliferation	1
response to dsRNA	1
viral genome replication	1
regulation of viral genome replication	1
negative regulation of viral process	1
defense response to symbiont	1
positive regulation of response to biotic stimulus	1
positive regulation of defense response	1
positive regulation of response to external stimulus	1
regulation of innate immune response	1
positive regulation of immune response	1
regulation of macromolecule biosynthetic process	1
MHC class I biosynthetic process	1
T cell differentiation	1
regulation of T cell differentiation	1
negative regulation of lymphocyte differentiation	1
negative regulation of T cell activation	1
regulation of transcription by RNA polymerase II	1
transcription by RNA polymerase II	1
positive regulation of DNA-templated transcription	1
receptor ligand activity	1
signaling receptor binding	1
cytokine receptor binding	1
protein-containing complex binding	1

Protein interactions and networks

STRING

3650 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
IFNB1	IFNAR1	P17181	999
IFNB1	TLR4	O00206	999
IFNB1	IFNAR2	P48551	998
IFNB1	TLR3	O15455	995
IFNB1	IFNA13	P01562	986
IFNB1	RIPK1	Q13546	971
IFNB1	TBK1	Q9UHD2	970
IFNB1	TRAF3	Q13114	962
IFNB1	IRF3	Q14653	960
IFNB1	RIGI	O95786	956
IFNB1	MYD88	P78397	953
IFNB1	IFNG	P01579	944
IFNB1	IKBKE	Q14164	941
IFNB1	MAVS	Q7Z434	941
IFNB1	IFIH1	Q9BYX4	937

IntAct

9 interactions, top by confidence:

A	B	Type	Score
IFNB1	PEX19	psi-mi:“MI:0915”(physical association)	0.560
IFNB1	ITGB3	psi-mi:“MI:0407”(direct interaction)	0.440
IFNB1	IFNAR1	psi-mi:“MI:0915”(physical association)	0.400
MAVS	CHMP2A	psi-mi:“MI:0914”(association)	0.350
IFNB1	PEX19	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (9): IFNAR1 (Affinity Capture-MS), IFNB1 (Two-hybrid), IFNB1 (Co-crystal Structure), IFNAR1 (Affinity Capture-MS), S100B (Reconstituted Complex), S100A1 (Reconstituted Complex), S100A4 (Reconstituted Complex), S100A6 (Reconstituted Complex), S100P (Reconstituted Complex)

ESM2 similar proteins: A2T6Z6, A7UHZ5, O35256, O46673, O77812, O97798, P01574, P01575, P01576, P01577, P01578, P03180, P05012, P07351, P0C6Z6, P0CAP9, P0DMS7, P18893, P22301, P29456, P42165, P43480, P46651, P47965, P48411, P51496, P51497, P55029, P68677, P68678, P70499, P79338, Q0Z972, Q13007, Q28374, Q29055, Q5Q0V6, Q6XZW6, Q80ZF2, Q86WN2

Diamond homologs: A7UHZ5, O46633, O77812, O97945, P01562, P01563, P01566, P01567, P01568, P01569, P01570, P01571, P01572, P01573, P01574, P01575, P01576, P01577, P01578, P05000, P05001, P05002, P05003, P05004, P05005, P05006, P05007, P05008, P05009, P05010, P05011, P05012, P05013, P05014, P05015, P06799, P07348, P07349, P07350, P07351

SIGNOR signaling

14 interactions.

A	Effect	B	Mechanism
IFNB1	up-regulates	IFNAR1	binding
IFNB1	up-regulates	IFNAR2	binding
IRF3	“up-regulates quantity by expression”	IFNB1	“transcriptional regulation”
PIN1	“down-regulates quantity by repression”	IFNB1	“transcriptional regulation”
IFNB1	“down-regulates quantity by repression”	MGMT	“transcriptional regulation”
“Papain-like proteinase”	“down-regulates quantity by repression”	IFNB1
IFNB1	“up-regulates activity”	IFNAR	binding
MAVS	“up-regulates quantity by expression”	IFNB1	“transcriptional regulation”
BRLF1	“down-regulates quantity by repression”	IFNB1	“transcriptional regulation”
IFNB1	up-regulates	JAK1
IFNB1	up-regulates	TYK2
NKRF	“down-regulates quantity by repression”	IFNB1	“transcriptional regulation”
IFNB1	“up-regulates activity”	IFNAR1	binding
IFNB1	“up-regulates activity”	IFNAR2	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

34 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	29
Likely benign	1
Benign	4

Top pathogenic / likely-pathogenic (0)

SpliceAI

197 predictions. Top by Δscore:

Variant	Effect	Δscore
9:21077499:T:TA	donor_gain	0.8500
9:21077398:C:CA	donor_gain	0.8100
9:21077426:C:CA	donor_gain	0.7900
9:21077350:T:TA	donor_gain	0.7800
9:21077356:G:C	donor_gain	0.7800
9:21077435:T:C	donor_gain	0.7800
9:21077450:A:AC	donor_gain	0.7500
9:21077451:C:CC	donor_gain	0.7500
9:21077451:CTG:C	donor_gain	0.7400
9:21077466:C:A	donor_gain	0.7300
9:21077467:C:A	donor_gain	0.7300
9:21077481:T:TA	donor_gain	0.7100
9:21077355:A:AC	donor_gain	0.7000
9:21077392:TG:T	donor_gain	0.7000
9:21077465:T:TA	donor_gain	0.6900
9:21077361:T:TA	donor_gain	0.6600
9:21077398:CCTTG:C	donor_gain	0.6500
9:21077318:G:C	donor_gain	0.6200
9:21077367:CTG:C	donor_gain	0.6200
9:21077397:T:TA	donor_gain	0.6200
9:21077395:ACT:A	donor_gain	0.6100
9:21077396:CTC:C	donor_gain	0.6100
9:21077320:A:T	donor_gain	0.6000
9:21077425:T:TA	donor_gain	0.5900
9:21077649:T:TA	donor_gain	0.5900
9:21077556:A:C	donor_gain	0.5700
9:21077319:TA:T	donor_gain	0.5600
9:21077675:AATCT:A	donor_gain	0.5600
9:21077395:A:AC	donor_gain	0.5500
9:21077396:C:CC	donor_gain	0.5500

AlphaMissense

1251 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:21077693:A:C	F59L	0.957
9:21077693:A:T	F59L	0.957
9:21077695:A:G	F59L	0.957
9:21077378:C:A	W164C	0.912
9:21077378:C:G	W164C	0.912
9:21077572:A:G	W100R	0.905
9:21077572:A:T	W100R	0.905
9:21077570:C:A	W100C	0.888
9:21077570:C:G	W100C	0.888
9:21077409:A:G	L154P	0.872
9:21077547:A:G	L108P	0.869
9:21077619:A:G	L84P	0.864
9:21077694:A:C	F59C	0.864
9:21077348:G:C	N174K	0.858
9:21077348:G:T	N174K	0.858
9:21077370:A:T	V167D	0.849
9:21077361:T:A	E170V	0.844
9:21077380:A:G	W164R	0.820
9:21077380:A:T	W164R	0.820
9:21077714:G:C	C52W	0.819
9:21077361:T:C	E170G	0.801
9:21077514:A:G	L119P	0.794
9:21077715:C:G	C52S	0.783
9:21077716:A:T	C52S	0.783
9:21077384:A:C	C162W	0.782
9:21077385:C:G	C162S	0.781
9:21077386:A:T	C162S	0.781
9:21077434:A:C	Y146D	0.780
9:21077606:A:C	F88L	0.776
9:21077606:A:T	F88L	0.776

dbSNP variants (sampled 300 via entrez): RS1000648622 (9:21078434 G>C), RS1002257328 (9:21078969 A>G), RS1002988939 (9:21077005 T>C), RS1003210947 (9:21078526 A>G), RS1003285242 (9:21077357 G>A,T), RS1004207729 (9:21079281 T>C), RS1004221201 (9:21079231 A>G), RS1004239177 (9:21079015 A>G), RS1004541371 (9:21078140 G>A), RS1005226773 (9:21077981 G>C,T), RS1005779500 (9:21078214 G>A,T), RS1006117852 (9:21079533 A>G), RS1007350782 (9:21078881 T>A), RS1007472403 (9:21077720 T>C), RS1009241464 (9:21079622 C>A,T)

Disease associations

OMIM: gene MIM:147640 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST002115_13	Axial length	9.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0005318	axial length measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL4630876 (SINGLE PROTEIN)

PharmGKB: 1 entry (VIP=true, CPIC=false)

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs1051922	IFNB1		0.00	0

CTD chemical–gene interactions

53 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Poly I-C	affects cotreatment, affects reaction, increases secretion, decreases reaction, increases expression	11
Fluorouracil	affects cotreatment, increases activity, increases response to substance	4
Lipopolysaccharides	decreases reaction, increases expression, affects cotreatment	4
Resveratrol	decreases expression, affects cotreatment	2
Cannabidiol	decreases reaction, increases expression, affects cotreatment, affects expression	2
Smoke	decreases reaction, increases expression	2
Tretinoin	increases expression, increases response to substance, affects cotreatment, affects localization, increases abundance (+2 more)	2
takinib	decreases reaction, increases expression	1
PAM2-CSK4	increases reaction, affects reaction, decreases reaction, increases expression	1
TL8-506	increases expression, increases secretion, affects cotreatment	1
arsenite	affects binding, increases reaction	1
beryllium sulfate	increases expression, increases reaction	1
nickel sulfate	increases expression	1
S-(1,2-dichlorovinyl)cysteine	affects cotreatment, increases expression, decreases reaction	1
acetovanillone	decreases reaction, increases expression	1
cyanoginosin LR	increases expression	1
vanadium pentoxide	decreases reaction, increases expression, affects reaction, increases activity	1
alpha-cyano-(3,4-dihydroxy)-N-benzylcinnamide	decreases reaction, increases expression, increases phosphorylation	1
lipopolysaccharide, E. coli O26-B6	increases expression	1
oxidized-L-alpha-1-palmitoyl-2-arachidonoyl-sn-glycero-3-phosphorylcholine	decreases reaction, increases expression	1
lipopolysaccharide, E coli O55-B5	increases expression	1
apilimod	decreases activity, decreases reaction, increases expression	1
Pam(3)CSK(4) peptide	affects reaction, increases expression	1
ruxolitinib	decreases reaction, increases expression	1
PF 3758309	increases expression	1
BI605906	decreases reaction, increases expression	1
MRT67307	decreases reaction, increases expression	1
Aripiprazole	increases reaction, increases expression	1
Wortmannin	affects cotreatment, decreases reaction, increases expression	1
Temozolomide	increases expression	1

Cellosaurus cell lines

10 cell lines: 5 transformed cell line, 5 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_A8BK	293-Dual Null	Transformed cell line	Female
CVCL_A8BL	293-Dual hSTING-A162	Transformed cell line	Female
CVCL_A8BM	293-Dual hSTING-H232	Transformed cell line	Female
CVCL_A8BN	293-Dual hSTING-R232	Transformed cell line	Female
CVCL_A8BP	293-Dual mSTING	Transformed cell line	Female
CVCL_B8HW	Abcam HCT 116 IFNB1 KO	Cancer cell line	Male
CVCL_B8X2	Abcam MCF-7 IFNB1 KO	Cancer cell line	Female
CVCL_B9K6	Abcam A-549 IFNB1 KO	Cancer cell line	Male
CVCL_E1ZX	HAP1 IFNB1 (-) 1	Cancer cell line	Male
CVCL_E1ZY	HAP1 IFNB1 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.