IFNL1

Summary

IFNL1 (interferon lambda 1, HGNC:18363) is a protein-coding gene on chromosome 19q13.2, encoding Interferon lambda-1 (Q8IU54). Cytokine with antiviral, antitumour and immunomodulatory activities.

This gene encodes a cytokine distantly related to type I interferons and the IL-10 family. This gene, interleukin 28A (IL28A), and interleukin 28B (IL28B) are three closely related cytokine genes that form a cytokine gene cluster on a chromosomal region mapped to 19q13. Expression of the cytokines encoded by the three genes can be induced by viral infection. All three cytokines have been shown to interact with a heterodimeric class II cytokine receptor that consists of interleukin 10 receptor, beta (IL10RB) and interleukin 28 receptor, alpha (IL28RA).

Source: NCBI Gene 282618 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 40 total
• MANE Select transcript: NM_172140

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18363
Approved symbol	IFNL1
Name	interferon lambda 1
Location	19q13.2
Locus type	gene with protein product
Status	Approved
Aliases	IL-29
Ensembl gene	ENSG00000182393
Ensembl biotype	protein_coding
OMIM	607403
Entrez	282618

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000333625

RefSeq mRNA: 1 — MANE Select: NM_172140 NM_172140

CCDS: CCDS12531

Canonical transcript exons

ENST00000333625 — 5 exons

Exon	Start	End
ENSE00001296420	39298391	39298673
ENSE00001302984	39296805	39296882
ENSE00001323166	39297964	39298107
ENSE00001326347	39296407	39296592
ENSE00002442388	39298213	39298296

Expression profiles

Bgee: expression breadth broad, 18 present calls, max score 88.91.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 5.1834 / max 1234.6092, expressed in 122 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
175696	3.4229	73
175695	1.7605	51

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	88.91	gold quality
granulocyte	CL:0000094	69.58	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	59.98	gold quality
vena cava	UBERON:0004087	59.59	gold quality
upper leg skin	UBERON:0004262	57.02	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	56.99	silver quality
nasal cavity epithelium	UBERON:0005384	55.03	gold quality
bone marrow cell	CL:0002092	45.86	gold quality
blood	UBERON:0000178	45.08	gold quality
jejunum	UBERON:0002115	42.69	gold quality
secondary oocyte	CL:0000655	42.57	gold quality
colonic epithelium	UBERON:0000397	42.31	gold quality
cauda epididymis	UBERON:0004360	42.28	gold quality
Brodmann (1909) area 23	UBERON:0013554	42.21	gold quality
vastus lateralis	UBERON:0001379	41.41	gold quality
inferior vagus X ganglion	UBERON:0005363	41.40	gold quality
quadriceps femoris	UBERON:0001377	41.37	gold quality
superficial temporal artery	UBERON:0001614	41.33	gold quality
skin of hip	UBERON:0001554	41.23	silver quality
palpebral conjunctiva	UBERON:0001812	41.10	gold quality
colonic mucosa	UBERON:0000317	41.05	gold quality
mucosa of paranasal sinus	UBERON:0005030	40.98	gold quality
amniotic fluid	UBERON:0000173	40.69	gold quality
jejunal mucosa	UBERON:0000399	40.59	gold quality
biceps brachii	UBERON:0001507	40.57	gold quality
epithelium of nasopharynx	UBERON:0001951	40.45	gold quality
myocardium	UBERON:0002349	40.45	gold quality
gingival epithelium	UBERON:0001949	40.43	gold quality
medulla oblongata	UBERON:0001896	40.38	gold quality
germinal epithelium of ovary	UBERON:0001304	40.33	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.42

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): FOXL2, IL32, IRF1, IRF3, IRF7, IRF8, NFKB1, NFKB2, NFKB, PRDM1, REL, RELA, RELB, ZEB1

miRNA regulators (miRDB)

37 targeting IFNL1, 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-4476	100.00	68.18	2030
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-568	99.98	69.86	2084
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-548AB	99.95	71.31	3488
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-548A-5P	99.94	71.27	3482
HSA-MIR-548AD-5P	99.94	71.23	3502
HSA-MIR-548AE-5P	99.94	71.23	3502
HSA-MIR-548AK	99.94	71.24	3488
HSA-MIR-548AM-5P	99.94	71.24	3488
HSA-MIR-548AP-5P	99.94	71.14	3489
HSA-MIR-548AQ-5P	99.94	71.34	3426
HSA-MIR-548AR-5P	99.94	71.28	3515
HSA-MIR-548AS-5P	99.94	71.22	3482
HSA-MIR-548AU-5P	99.94	71.24	3488
HSA-MIR-548AY-5P	99.94	71.23	3502
HSA-MIR-548B-5P	99.94	71.23	3502
HSA-MIR-548BB-5P	99.94	71.27	3509
HSA-MIR-548C-5P	99.94	71.24	3488
HSA-MIR-548D-5P	99.94	71.23	3502
HSA-MIR-548H-5P	99.94	71.24	3488
HSA-MIR-548I	99.94	71.25	3481
HSA-MIR-548J-5P	99.94	71.14	3489
HSA-MIR-548O-5P	99.94	71.24	3488
HSA-MIR-548W	99.94	71.24	3488
HSA-MIR-548Y	99.94	71.28	3514
HSA-MIR-12124	99.68	69.17	2700
HSA-MIR-2113	99.58	71.22	1521

Literature-anchored findings (GeneRIF, showing 40)

• identified from the human genomic sequence a family of three cytokines, designated interleukin 28A (IL-28A), IL-28B and IL-29, that are distantly related to type I interferons (IFNs) and the IL-10 family (PMID:12469119)
• closely positioned genes on human chromosome 19 encode distinct but paralogous proteins, which we designate interferon-lambda1 (IFN-lambda1), IFN-lambda2 and IFN-lambda3 (PMID:12483210)
• IL-29 antiviral and antiproliferative activity requires interleukin (IL)-28 receptor tyrosine residues (PMID:15166220)
• IL-28A and IL-29 induced mRNA expression of the antiviral proteins 2’,5’-OAS and MxA was abolished by overexpression of SOCS-1 (PMID:15850793)
• we found IL-28A and IL-29 act similarly to IFNs, but are less effective generally and have activity in a more limited range of cell lines (PMID:15899585)
• IECs express functional receptors for IFN-lambdas, which mediate antiviral and antiproliferative signals in IECs, suggesting a potential for therapeutic use in certain viral infections and as (antiproliferative) anticancer therapy (PMID:16051921)
• IFN-lambdas are thus able to generate tolerogenic DCs, an activity that could thwart IFN-beta functions (PMID:16478884)
• Study shows that IFNL1, a cytokine produced in response to viral infection, activates both monocytes and macrophages producing a restricted panel of cytokines and may be important in activating innate immune responses at the site of viral infection. (PMID:17082759)
• Interferon lambda-1 (IFN-lambda1/IL-29) induces ELR(-) CXC chemokine mRNA in human peripheral blood mononuclear cells, in an IFN-gamma-independent manner. (PMID:17252004)
• IFNs lambda exhibit several common features with type I IFNs: antiviral activity, antiproliferative activity and in vivo antitumour activity [review] (PMID:17367910)
• Activation of toll-like receptors 2 and 3 show keratinocytes in the simultaneous presence of IL-20 and IL-29. (PMID:18281438)
• the duration of IFNlambda signaling to JAK/STAT is different from that of IFNalpha (PMID:18698163)
• Interleukin-29 functions cooperatively with interferon to induce antiviral gene expression and inhibit hepatitis C virus replication (PMID:18757365)
• IFN-lambda1 may regulate myeloma cell biology (PMID:18830264)
• IL-29 exerts IFN-beta-independent protection in alveolar type II cells through direct activation of antiviral genes during influenza A virus infection. (PMID:19155475)
• These data provide direct and compelling evidence that IFN-lambda, through both extracellular and intracellular antiviral mechanisms, inhibits HIV-1 replication in macrophages. (PMID:19193806)
• recent findings about the biology of IFN-lambdas and their pathophysiological roles in viral infection, cancer, and immune responses of the innate and adaptive arms.[review] (PMID:19304895)
• IFN-lambda1-treated pDC display a marked difference in their ability to stimulate production of the signature cytokines IL-13, IFN-gamma, and IL-10 in a MLR (PMID:19759281)
• study supports that IFN-lambdas do not influence every type of cell and that membrane-associated variant IFN-lambda R1 expression is not sufficient to ensure cellular sensitivity toward these cytokines. (PMID:19798076)
• Although the IFN-lambda1(Bac)-IFN-lambda1R1 and IFN-lambda1(Ins)-IFN-lambda1R1 complexes differed only in the nature of the expression system used for the ligand, their crystallization conditions and crystal forms were quite different (PMID:20057073)
• Interleukin-29 binds to melanoma cells inducing Jak-STAT signal transduction and apoptosis (PMID:20103601)
• These findings indicate that the expression of MxA, 2’,5’-OAS and PKR are up-regulate by PI3K-AKT signal pathway, and Raf-MEK-ERK signal pathway has a negative regulatory effect on the expression of MxA and no significant effect on 2’,5’-OAS and PKR. (PMID:20309637)
• Extrinsic IL-29 provoked IL-4 and IL-13 release from mast cell line P815 cells through PI3K/Akt and (JAK)/STAT3 signaling pathways, but failed to induce mast cell histamine release from human mast cells. (PMID:20337614)
• These data show that Hantaan virus can cause type I interferon-independent interferon-lambda1 induction and interferon-lambda1-specific gene induction. (PMID:20592090)
• Interleukin-29 is involved in the pathogenesis of allergic inflammation via modulating immune cells’ function to release proinflammatory cytokines. (PMID:20726961)
• The overall structure of IFN-lambda1 is topologically similar to the structure of IL-10 and other members of the IL-10 family of cytokines. (PMID:20934432)
• The data indicates that interferons contribute to TLR-dependent gene activation in human dendritic cells stimulated with multiple TLR ligands. (PMID:21040977)
• our data provide evidence for a critical role for the activated RSK1 in IFNlambda signaling (PMID:21075852)
• Patients with acute hepatitis C showed IL-29 levels intermediate between chronic hepatitis C and normal controls; and IL-29 serum levels were higher in patients who spontaneously resolved hepatitis C than in those who became chronic (PMID:21145813)
• In contrast to IL-29, IL-28A is a potent gene repressor in patients with hepatitis C (PMID:21170333)
• IL-29 up-regulated, whereas IFNalpha down-regulated, the surface expression of the IFNgamma receptor 1 chain on macrophages, thereby resulting in differential responsiveness of TLR-challenged macrophages to IFNgamma. (PMID:21190998)
• Data show that Ku70 mediates type III IFN induction by DNA. (PMID:21398614)
• IL-29/IL-28A suppress herpes simplex virus type 1 (HSV-1) infection of human NT2-N neurons. (PMID:21499846)
• IFN-lambda1 is probably involved in the renal disorder and arthritis progression of systemic lupus erythematosus and associated with disease activity. (PMID:21679442)
• Hepatitis C virus infection is capable of inducing antiviral cytokines and pathways in primary liver cell cultures; induction of IFN-stimulated genes and lambda IFNs may limit the growth and spread of HCV in primary cell cultures and in the infected liver (PMID:21800339)
• These data indicate that IFN-lambda, but not IFN-beta/alpha, contributes to the main first line defense via RIG-I-dependent pathway against respiratory virus infection in human nasal epithelial cells. (PMID:21816185)
• IL-29-induced TLR3 expression is involved in antiviral activity of IL-29 in KCs, which suggests a feasible method to cure certain viral infections of the skin (PMID:21847628)
• Expression levels of IL-29, IL-8, and cyclooxygenase (COX)-2 are elevated in patients with hepatitis B virus (HBV) infection and in HBV-transfected hepatoma cells. (PMID:21957142)
• We investigated the regulation of IFN-lambda1 expression in human airway epithelial cells (PMID:22058416)
• MiR29 suppresses DNMT activity and thus induces expression of COX2 and PGE2 during influenza A virus infection. (PMID:22072783)

Cross-species orthologs

0 orthologs

Paralogs (2): IFNL2 (ENSG00000183709), IFNL3 (ENSG00000197110)

Protein

Protein identifiers

Interferon lambda-1 — Q8IU54 (reviewed: Q8IU54)

Alternative names: Cytokine Zcyto21, Interleukin-29

All UniProt accessions (2): A0A7R8C391, Q8IU54

UniProt curated annotations — full annotation on UniProt →

Function. Cytokine with antiviral, antitumour and immunomodulatory activities. Plays a critical role in the antiviral host defense, predominantly in the epithelial tissues. Acts as a ligand for the heterodimeric class II cytokine receptor composed of IL10RB and IFNLR1, and receptor engagement leads to the activation of the JAK/STAT signaling pathway resulting in the expression of IFN-stimulated genes (ISG), which mediate the antiviral state. Has a restricted receptor distribution and therefore restricted targets: is primarily active in epithelial cells and this cell type-selective action is because of the epithelial cell-specific expression of its receptor IFNLR1. Exerts an immunomodulatory effect by up-regulating MHC class I antigen expression.

Subcellular location. Secreted.

Induction. By viral infections or double-stranded RNA.

Similarity. Belongs to the type-III (or lambda) interferon family.

RefSeq proteins (1): NP_742152* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR029177	INF_lambda	Family
IPR038326	IFN-lambda_sf	Homologous_superfamily

Pfam: PF15177

UniProt features (14 total): helix 8, signal peptide 1, chain 1, glycosylation site 1, disulfide bond 1, sequence variant 1, turn 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
3OG6	X-RAY DIFFRACTION	2.1
3OG4	X-RAY DIFFRACTION	2.16

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8IU54-F1	83.74	0.65

Functional residue map

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

Disulfide bonds (1): 68–164

Glycosylation sites (1): 65

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-449836	Other interleukin signaling
R-HSA-8854691	Interleukin-20 family signaling

MSigDB gene sets: 147 (showing top): GOBP_REGULATION_OF_CELL_ACTIVATION, GOBP_NEGATIVE_REGULATION_OF_CELL_DEVELOPMENT, GOBP_CELLULAR_RESPONSE_TO_VIRUS, GOBP_REGULATION_OF_PHOSPHORYLATION, REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, GOBP_RESPONSE_TO_PEPTIDE, GOBP_T_CELL_ACTIVATION_INVOLVED_IN_IMMUNE_RESPONSE, GOBP_NEGATIVE_REGULATION_OF_CELL_CELL_ADHESION, GOBP_POSITIVE_REGULATION_OF_CYTOKINE_PRODUCTION, GOBP_CELL_SURFACE_RECEPTOR_SIGNALING_PATHWAY_VIA_JAK_STAT, ACEVEDO_LIVER_CANCER_WITH_H3K27ME3_UP, GOBP_POSITIVE_REGULATION_OF_PEPTIDYL_TYROSINE_PHOSPHORYLATION, GOBP_CELL_ACTIVATION_INVOLVED_IN_IMMUNE_RESPONSE, GOBP_CELL_CELL_ADHESION, GOBP_REGULATION_OF_LEUKOCYTE_DIFFERENTIATION

GO Biological Process (18): negative regulation of type 2 immune response (GO:0002829), cell surface receptor signaling pathway via JAK-STAT (GO:0007259), negative regulation of cell population proliferation (GO:0008285), negative regulation of interleukin-13 production (GO:0032696), negative regulation of interleukin-5 production (GO:0032714), positive regulation of type II interferon production (GO:0032729), type III interferon-mediated signaling pathway (GO:0038196), positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531), negative regulation of memory T cell differentiation (GO:0043381), innate immune response (GO:0045087), positive regulation of MHC class I biosynthetic process (GO:0045345), negative regulation of T cell differentiation (GO:0045581), negative regulation of DNA-templated transcription (GO:0045892), positive regulation of DNA-templated transcription (GO:0045893), positive regulation of receptor signaling pathway via JAK-STAT (GO:0046427), positive regulation of immune response (GO:0050778), defense response to virus (GO:0051607), cellular response to virus (GO:0098586)

GO Molecular Function (3): signaling receptor binding (GO:0005102), cytokine activity (GO:0005125), interleukin-28 receptor binding (GO:0032003)

GO Cellular Component (3): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615), interleukin-28 receptor complex (GO:0032002)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Signaling by Interleukins	2

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
negative regulation of immune response	2
negative regulation of cytokine production	2
immune response	2
DNA-templated transcription	2
regulation of DNA-templated transcription	2
response to virus	2
regulation of type 2 immune response	1
type 2 immune response	1
cell surface receptor signaling pathway via STAT	1
cell population proliferation	1
regulation of cell population proliferation	1
negative regulation of cellular process	1
interleukin-13 production	1
regulation of interleukin-13 production	1
interleukin-5 production	1
regulation of interleukin-5 production	1
positive regulation of cytokine production	1
type II interferon production	1
regulation of type II interferon production	1
cellular response to type III interferon	1
interferon-mediated signaling pathway	1
tyrosine phosphorylation of STAT protein	1
regulation of tyrosine phosphorylation of STAT protein	1
positive regulation of peptidyl-tyrosine phosphorylation	1
negative regulation of immune effector process	1
memory T cell differentiation	1
regulation of memory T cell differentiation	1
negative regulation of T cell differentiation	1
defense response to symbiont	1
positive regulation of macromolecule biosynthetic process	1
MHC class I biosynthetic process	1
regulation of 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
negative regulation of RNA biosynthetic process	1
positive regulation of RNA biosynthetic process	1
cell surface receptor signaling pathway via JAK-STAT	1
regulation of receptor signaling pathway via JAK-STAT	1

Protein interactions and networks

STRING

964 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
IFNL1	IFNLR1	Q8IU57	999
IFNL1	IL10RB	Q08334	995
IFNL1	IFNL3	Q8IZI9	971
IFNL1	IFNL2	Q8IZJ0	912
IFNL1	IFNA2	P01563	903
IFNL1	IFNB1	P01574	900
IFNL1	IFNAR1	P17181	867
IFNL1	TLR7	Q9NYK1	856
IFNL1	IFNA13	P01562	851
IFNL1	IL10	P22301	850
IFNL1	JAK1	P23458	831
IFNL1	IL6	P05231	819
IFNL1	TLR3	O15455	813
IFNL1	IL26	Q9NPH9	797
IFNL1	TLR8	Q9NR97	796

IntAct

5 interactions, top by confidence:

A	B	Type	Score
IFNL1	IFNLR1	psi-mi:“MI:0407”(direct interaction)	0.440
IFNL1	ATP2B2	psi-mi:“MI:0914”(association)	0.350
IFNL1	CRYBB3	psi-mi:“MI:0914”(association)	0.350
IFNL1	STAT1	psi-mi:“MI:0914”(association)	0.350

BioGRID (11): IFNL2 (Affinity Capture-MS), ATP2B2 (Affinity Capture-MS), IFNL1 (Affinity Capture-MS), MOK (Positive Genetic), LCK (Negative Genetic), VHL (Negative Genetic), CRYBB3 (Affinity Capture-MS), ATP2B2 (Affinity Capture-MS), IFNL2 (Affinity Capture-MS), STAT1 (Affinity Capture-MS), GALNT18 (Affinity Capture-MS)

ESM2 similar proteins: A0A1B0GUA7, A0A3Q1LRJ2, A2T6Z6, E9Q8Q8, O46673, O77049, O88823, P01588, P07865, P22301, P29676, P43480, P46651, P48411, P51496, P51497, P51746, P55029, P79338, Q0Z972, Q25BC1, Q28374, Q28C41, Q2PE73, Q3KNT9, Q4VK74, Q5Q0V6, Q5ZJY9, Q6A2H4, Q6AY06, Q6H8S9, Q6H8T0, Q6H8T1, Q6H8T2, Q6UXV1, Q865X4, Q8BGT0, Q8CGK6, Q8CJ70, Q8IU54

Diamond homologs: B4ER10, Q4VK74, Q8CGK6, Q8IU54, Q8IZI9, Q8IZJ0, K9M1U5

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
IFNL1	up-regulates	IFNLR1	binding
IFNL1	up-regulates	IL10RB	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	33
Likely benign	4
Benign	3

Top pathogenic / likely-pathogenic (0)

SpliceAI

337 predictions. Top by Δscore:

Variant	Effect	Δscore
19:39296881:AGGTG:A	donor_loss	1.0000
19:39296883:G:C	donor_loss	1.0000
19:39297959:CTCA:C	acceptor_loss	1.0000
19:39297960:TCAG:T	acceptor_loss	1.0000
19:39297962:A:C	acceptor_loss	1.0000
19:39297962:AG:A	acceptor_gain	1.0000
19:39297962:AGGT:A	acceptor_gain	1.0000
19:39297962:AGGTG:A	acceptor_gain	1.0000
19:39297963:GG:G	acceptor_gain	1.0000
19:39297963:GGT:G	acceptor_gain	1.0000
19:39297963:GGTG:G	acceptor_gain	1.0000
19:39297963:GGTGA:G	acceptor_gain	1.0000
19:39298048:G:GT	donor_gain	1.0000
19:39298106:GT:G	donor_gain	1.0000
19:39298108:G:GG	donor_gain	1.0000
19:39298208:CACA:C	acceptor_loss	1.0000
19:39298211:A:AG	acceptor_gain	1.0000
19:39298211:AGA:A	acceptor_loss	1.0000
19:39298212:G:C	acceptor_loss	1.0000
19:39298212:G:GA	acceptor_gain	1.0000
19:39298212:GA:G	acceptor_gain	1.0000
19:39298212:GAT:G	acceptor_gain	1.0000
19:39298212:GATC:G	acceptor_gain	1.0000
19:39298212:GATCC:G	acceptor_gain	1.0000
19:39298292:AAAAG:A	donor_gain	1.0000
19:39298293:AAAG:A	donor_gain	1.0000
19:39298294:AAG:A	donor_gain	1.0000
19:39298295:AG:A	donor_gain	1.0000
19:39298295:AGGT:A	donor_loss	1.0000
19:39298296:GG:G	donor_gain	1.0000

AlphaMissense

1267 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:39296569:T:C	F50L	0.935
19:39296571:C:A	F50L	0.935
19:39296571:C:G	F50L	0.935
19:39298266:G:C	W149C	0.919
19:39298266:G:T	W149C	0.919
19:39296574:G:C	K51N	0.906
19:39296574:G:T	K51N	0.906
19:39296536:T:C	F39L	0.904
19:39296538:C:A	F39L	0.904
19:39296538:C:G	F39L	0.904
19:39298452:A:C	D180A	0.878
19:39296851:T:G	F73C	0.873
19:39296850:T:C	F73L	0.872
19:39296852:C:A	F73L	0.872
19:39296852:C:G	F73L	0.872
19:39298453:C:A	D180E	0.871
19:39298453:C:G	D180E	0.871
19:39296570:T:C	F50S	0.864
19:39297986:T:C	L91S	0.859
19:39297991:G:C	A93P	0.856
19:39297996:G:C	E94D	0.851
19:39297996:G:T	E94D	0.851
19:39298419:T:A	V169D	0.851
19:39298424:T:C	F171L	0.850
19:39298426:C:A	F171L	0.850
19:39298426:C:G	F171L	0.850
19:39298064:C:A	P117H	0.846
19:39298443:T:A	L177H	0.846
19:39298452:A:T	D180V	0.844
19:39297998:T:C	L95P	0.843

dbSNP variants (sampled 300 via entrez): RS1000085421 (19:39299151 C>A,T), RS1000281816 (19:39297182 C>T), RS1000399599 (19:39295009 C>T), RS1001627145 (19:39296105 C>A), RS1001882774 (19:39297312 T>C), RS1001928275 (19:39297196 C>T), RS1001959442 (19:39297531 C>G), RS1002251765 (19:39297556 G>A,T), RS1004353816 (19:39299054 T>C), RS1004741496 (19:39298335 G>A,T), RS1004810936 (19:39297149 T>C), RS1005295660 (19:39294448 TAGTC>T), RS1006188407 (19:39296053 G>A,T), RS1006547320 (19:39295437 T>C), RS1006668913 (19:39295261 A>G,T)

Disease associations

OMIM: gene MIM:607403 | 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
GCST000557_1	Chronic hepatitis C infection	6.000000e-09

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

15 total (human), top 15 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
5’-methylthioadenosine	decreases reaction, increases expression	1
mono-(2-ethylhexyl)phthalate	decreases reaction, increases expression	1
S-(1,2-dichlorovinyl)cysteine	decreases reaction, increases expression	1
anacardic acid	decreases reaction, increases expression	1
GW 6471	decreases reaction, increases expression	1
2-chloro-5-nitrobenzanilide	increases expression, decreases reaction	1
abrine	increases expression	1
Cannabidiol	increases expression	1
Diethylhexyl Phthalate	increases secretion	1
Lipopolysaccharides	decreases reaction, increases expression	1
Poly I-C	increases expression, decreases reaction	1
Smoke	decreases reaction, increases expression	1
Valproic Acid	increases methylation	1
Cadmium Chloride	decreases expression	1
Genistein	increases expression	1

Clinical trials (associated diseases)

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