IFNA1

Summary

IFNA1 (interferon alpha 1, HGNC:5417) is a protein-coding gene on chromosome 9p21.3, encoding Interferon alpha-1 (P0DY56). Produced by macrophages, IFN-alpha have antiviral activities.

This gene is a member of the alpha interferon gene cluster on chromosome 9. The encoded cytokine is a member of the type I interferon family that is produced in response to viral infection as a key part of the innate immune response with potent antiviral, antiproliferative and immunomodulatory properties. This cytokine, like other type I interferons, binds a plasma membrane receptor made of IFNAR1 and IFNAR2 that is ubiquitously expressed, and thus is able to act on virtually all body cells. This cytokine is upregulated in preeclamptic placentas and is thought to be a mediator of preeclampsia.

Source: NCBI Gene 3439 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 39 total — 1 pathogenic
• MANE Select transcript: NM_024013

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:5417
Approved symbol	IFNA1
Name	interferon alpha 1
Location	9p21.3
Locus type	gene with protein product
Status	Approved
Aliases	IFNA@, IFL, IFN, IFN-ALPHA, IFNA13, IFN-alphaD
Ensembl gene	ENSG00000197919
Ensembl biotype	protein_coding
OMIM	147660
Entrez	3439

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000276927

RefSeq mRNA: 1 — MANE Select: NM_024013 NM_024013

CCDS: CCDS6508

Canonical transcript exons

ENST00000276927 — 1 exons

Exon	Start	End
ENSE00000982229	21440439	21441316

Expression profiles

Bgee: expression breadth broad, 34 present calls, max score 97.20.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.1856 / max 176.5444, expressed in 9 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
96283	0.1856	9

Top tissues by expression

224 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	97.20	gold quality
metanephric glomerulus	UBERON:0004736	55.97	gold quality
frontal pole	UBERON:0002795	50.41	gold quality
middle frontal gyrus	UBERON:0002702	50.30	gold quality
paraflocculus	UBERON:0005351	50.18	gold quality
Brodmann (1909) area 10	UBERON:0013541	50.18	gold quality
cerebellar vermis	UBERON:0004720	49.25	gold quality
endometrium epithelium	UBERON:0004811	46.85	gold quality
lower lobe of lung	UBERON:0008949	45.55	silver quality
quadriceps femoris	UBERON:0001377	44.83	gold quality
vastus lateralis	UBERON:0001379	43.87	gold quality
thymus	UBERON:0002370	43.85	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	43.37	gold quality
secondary oocyte	CL:0000655	42.57	gold quality
epithelium of nasopharynx	UBERON:0001951	41.89	gold quality
superficial temporal artery	UBERON:0001614	41.33	gold quality
palpebral conjunctiva	UBERON:0001812	41.10	gold quality
oviduct epithelium	UBERON:0004804	41.10	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
cerebellum	UBERON:0002037	40.54	silver quality
medial globus pallidus	UBERON:0002477	40.49	gold quality
primary visual cortex	UBERON:0002436	40.46	gold quality
myocardium	UBERON:0002349	40.45	gold quality
gingival epithelium	UBERON:0001949	40.43	gold quality
cerebellar hemisphere	UBERON:0002245	40.37	gold quality
germinal epithelium of ovary	UBERON:0001304	40.33	gold quality
cerebellar cortex	UBERON:0002129	40.31	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.81

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): AP1, ATF2, BCL6, BRCA1, CEBPB, DLX4, ESR1, ETS2, GLI3, HDAC3, IFI16, IRF1, IRF2, IRF3, IRF4, IRF5, IRF6, IRF7, IRF8, IRF9, JUNB, MAFB, MTA2, MYC, NFATC2, NFKB1, NFKB, PAX1, PITX1, PRDM1, PREB, REL, RELA, SMAD7, SP1, SPI1, SPIB, SSRP1, STAT1, STAT2

miRNA regulators (miRDB)

22 targeting IFNA1, 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-3617-3P	99.98	67.86	918
HSA-MIR-128-3P	99.95	71.17	2484
HSA-MIR-216A-3P	99.95	71.19	2505
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-3681-3P	99.88	70.46	2254
HSA-MIR-3121-3P	99.82	71.96	3630
HSA-MIR-577	99.78	69.13	2479
HSA-MIR-7154-5P	99.69	70.52	1900
HSA-MIR-203A-3P	99.49	70.56	2806
HSA-MIR-5589-3P	99.29	68.30	1443
HSA-MIR-18A-5P	99.29	71.05	806
HSA-MIR-18B-5P	99.29	71.05	806
HSA-MIR-6510-5P	99.14	66.59	1081
HSA-MIR-4735-3P	99.14	69.85	777
HSA-MIR-374A-3P	98.87	67.82	1531
HSA-MIR-219A-2-3P	98.62	68.78	797
HSA-MIR-5585-3P	98.25	67.41	941
HSA-MIR-12120	98.05	68.44	1768
HSA-MIR-5007-5P	97.95	64.71	614
HSA-MIR-937-5P	97.43	68.39	667
HSA-MIR-217-3P	95.67	68.42	1000

Literature-anchored findings (GeneRIF, showing 40)

• Results show that a significant positive relationship exists between IFNalpha production capacity and the clinicopathological parameters of deteriorated renal lesions in the acute but not in the latent phase of IGA nephropathy. (PMID:11744801)
• Production of matrix metalloproteinase-9 in early stage B-CLL is suppressed by interferons alpha and gamma. (PMID:11986939)
• Endogenous interferon-alpha production by differentiating human monocytes regulates expression and function of the IL-2/IL-4 receptor gamma chain (PMID:11991671)
• Interferon-alpha (Intron A) upregulates urokinase-type plasminogen activator receptor gene expression (PMID:12070711)
• Response of hairy cells to IFN-alpha involves induction of apoptosis through autocrine TNF-alpha and protection by adhesive proteins (vitronectin). (PMID:12091360)
• IFN-alpha up-regulates APO2L-mediated lysis of a CD4+ cytotoxic T lymphocyte clone against its autologous tumor in vitro and in vivo. (PMID:12097384)
• whereas viruses trigger cells to produce IFN-I, the amount of IFN is tightly controlled by cytokines (PMID:12162875)
• demonstrated that IFN-alpha activates STAT4 directly and that this is required for IFN-gamma production during viral infections in concert with T cell receptor-derived signals (PMID:12242445)
• Human IFN-alpha may enhance biological defense activities against oxidative stress and function as a potent fibrosuppressant by protecting rat hepatocytes and hepatic stellate cells from lipid peroxidation in vivo. (PMID:12323007)
• Interferon-alpha induces expression of myeloblastin and a specific T-cell response in chronic myeloid leukemia (PMID:12393722)
• Circulating, interferon alpha-producing plasmacytoid dendritic cells decline during human ageing. (PMID:12410802)
• High levels of serum IFN-alpha are correlated with febrile seizures in influenza. (PMID:12435568)
• IFN-alpha is secreted by fungi-prestimulated leukocytes from the lower respiratory tract and may be involved in the processes of exacerbation of asthma complicated by fungal infections (PMID:12530117)
• IFN-alpha stimulates induction of MICA/MICB on dendritic cells, a mechanism by which NK cells are activated. (PMID:12538683)
• MHC Class II proteins, interferon-alpha, interferon-gamma receptor and the capacity to present antigen may be crucial in HIV-associated nephropathy pathogenesis. (PMID:12543882)
• primarily mediates effects on megakaryocytic cells and platelets rather than on thrombopoietin-producing hepatocytes (PMID:12581491)
• expression modulated by co expression of hepatitis C virus NS5A protein and human homeodomain protein PTX1 (PMID:12620797)
• IFN-alpha alone is able to induce the secretion of small amounts of IP-10 in plasmacytoid dendritic cells and is found to synergize with low concentrations of IFN-gamma, in a Th1-like environment. (PMID:12682235)
• IFN-alpha and ribavirin being taken in a combination drug therapy for chronic hepatits C had no adverse fetal effects. (PMID:12749388)
• Measles virus V protein blocks IFN-alpha by inhibiting STAT1 and STAT2 phosphorylation. (PMID:12804771)
• IFN-alpha recruits both IFN regulatory factor 1 and Stat3 transcription factors to the human IL-10 promoter. (PMID:12817009)
• NK cells displayed apparently augmented cytotoxicity against target tumor cells (K562) and up-regulated gene expression of cytolytic effectors Fas-L and perforin in response to IFNalpha stimulation (PMID:12967644)
• Peripheral blood monocytes cultured in the presence of IFN-alpha can differentiate into dendritic cells (DCs) expressing a number of Toll-like receptors (TLRs), including TLR7, which is classically found on natural type I IFN-producing plasmacytoid DCs. (PMID:14500632)
• IFN-alpha is a relevant in vivo regulator of CD73 (ecto-5’-nucleotidase) in the endothelial-leukocyte microenvironment in infections and thus has a fundamental role in controlling the extent of inflammation via CD73-dependent adenosine production. (PMID:14734746)
• an intact PI3K/mTOR pathway is necessary for the ability of IFNalpha to induce apoptosis, whereas activation of the Jak-STAT pathway alone appears to be insufficient for this specific IFNalpha-induced effect (PMID:15056668)
• Interferon alpha but not interleukin 12 activates STAT4 signaling in human vascular endothelial cells (PMID:15087447)
• The IFN alpha inducers probably consist of immune complexes (ICs) containing RNA and possibly DNA as essential interferogenic components in systemic lupus erythematosus (PMID:15188363)
• Our results demonstrate that SOCS-1 and SOCS-3 proteins inhibit IFN-alpha-induced activation of the Jak-STAT pathway and expression of the antiviral proteins 2’,5’-OAS and MxA. (PMID:15240148)
• thymidine phosphorylase mRNA and activity expression is upregulated 2-3 fold after treatment with interferon alpha (PMID:15571260)
• Thymic plasmacytoid dendritic cells (pDC)modulate HIV-1 replication through secretion of IFN-alpha. The degree of inhibition depends on the level of IFN-alpha produced by the thymic pDC. (PMID:15585849)
• type I interferons interact with receptor components results and have roles in the activation of a number of signaling pathways [review] (PMID:15621727)
• In testing the contribution of IFN-alpha secreted during infection with Mycobacterium tuberculosis to inhibition of signaling, it is found that it is necessary, but not sufficient. (PMID:15634924)
• no IFN-alpha genotype was significantly associated with the risk of SLE. (PMID:15674657)
• IFN-alpha sensitizes cells to microbial recognition by up-regulating the expression of several Toll-like receptors (TLRs) as well as adapter molecules and kinases involved in TLR signaling. (PMID:15699120)
• interferon alpha has a role in regulating the p70 S6 kinase pathway in chronic myelogenous leukemia cells (PMID:15790787)
• Demdritic cells express and store IFN-alpha in to confer resistance to foot and mouth disase virus. (PMID:15795269)
• In the IFN signaling pathway leading to STAT activation, both JAK1 and TYK2 are essential, whereas NF-kappaB activation requires only TYK2. (PMID:15883164)
• NKp44 is present on a subset of natural interferon-producing cells (IPCs) in tonsils. Crosslinking of NKp44 does not trigger IPC-mediated cytotoxicity but, paradoxically, inhibits IFN-alpha production by IPCs in response to CpG oligonucleotides. (PMID:15941912)
• there was no significant difference in IL-12 and IFN-alpha levels between non-active and active stages of SLE patients (PMID:15989801)
• Taken together, IFN-alpha-induced activations of NF-kappaB and COX-2 were inhibited by the addition of curcumin in A549 cells. (PMID:16005433)

Cross-species orthologs

34 orthologs

Organism	Symbol	Gene ID
danio_rerio	ifnphi2	ENSDARG00000069012
danio_rerio	ifnphi3	ENSDARG00000070676
mus_musculus	Ifna13	ENSMUSG00000063376
mus_musculus	Ifna4	ENSMUSG00000070904
mus_musculus	Ifna12	ENSMUSG00000073811
mus_musculus	Ifna2	ENSMUSG00000078354
mus_musculus	Ifna16	ENSMUSG00000078355
mus_musculus	Ifna9	ENSMUSG00000095270
mus_musculus	Ifna1	ENSMUSG00000095498
mus_musculus	Ifna14	ENSMUSG00000095896
mus_musculus	Ifna15	ENSMUSG00000096011
mus_musculus	Ifna5	ENSMUSG00000096682
mus_musculus	Ifnab	ENSMUSG00000100079
mus_musculus	Ifna11	ENSMUSG00000100549
mus_musculus	Ifna7	ENSMUSG00000100713
mus_musculus	Ifna6	ENSMUSG00000101252
rattus_norvegicus		ENSRNOG00000071845
rattus_norvegicus	Ifna12l	ENSRNOG00000072681
rattus_norvegicus	Ifna16l1	ENSRNOG00000074841
rattus_norvegicus		ENSRNOG00000075722
rattus_norvegicus		ENSRNOG00000076372
rattus_norvegicus	Ifna4	ENSRNOG00000077072
rattus_norvegicus	Ifna2	ENSRNOG00000078310
rattus_norvegicus	Ifna5	ENSRNOG00000079725
rattus_norvegicus	Ifna1l1	ENSRNOG00000079800
rattus_norvegicus		ENSRNOG00000079804
rattus_norvegicus		ENSRNOG00000081823
rattus_norvegicus		ENSRNOG00000082441
rattus_norvegicus		ENSRNOG00000082845
rattus_norvegicus		ENSRNOG00000083047
rattus_norvegicus	Ifna1	ENSRNOG00000084770
rattus_norvegicus		ENSRNOG00000085373
rattus_norvegicus		ENSRNOG00000085882
rattus_norvegicus		ENSRNOG00000086565

Paralogs (16): IFNA6 (ENSG00000120235), IFNA8 (ENSG00000120242), IFNA21 (ENSG00000137080), IFNA5 (ENSG00000147873), IFNA16 (ENSG00000147885), IFNK (ENSG00000147896), IFNB1 (ENSG00000171855), IFNW1 (ENSG00000177047), IFNE (ENSG00000184995), IFNA10 (ENSG00000186803), IFNA2 (ENSG00000188379), IFNA7 (ENSG00000214042), IFNA14 (ENSG00000228083), IFNA13 (ENSG00000233816), IFNA17 (ENSG00000234829), IFNA4 (ENSG00000236637)

Protein

Protein identifiers

Interferon alpha-1 — P0DY56 (reviewed: P0DY56)

Alternative names: Interferon alpha-D

All UniProt accessions (3): P0DY56, L0N195, P01562

UniProt curated annotations — full annotation on UniProt →

Function. Produced by macrophages, IFN-alpha have antiviral activities. Interferon stimulates the production of two enzymes: a protein kinase and an oligoadenylate synthetase.

Subunit / interactions. Interacts with CR2.

Subcellular location. Secreted.

Polymorphism. Two forms exist; alpha-1a (shown here) and alpha-1b.

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

RefSeq proteins (1): NP_076918* (*=MANE)

Domains & families (InterPro)

UniProt features (18 total): helix 8, turn 2, disulfide bond 2, sequence variant 2, sequence conflict 2, signal peptide 1, chain 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
3UX9	X-RAY DIFFRACTION	2.8

Predicted structure (AlphaFold)

No AlphaFold model available for P0DY56 — AlphaFold DB does not currently provide models for proteins above ~3000 aa.

Antibody-complex structures (SAbDab): 1 — 3UX9

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 (2): 24–122, 52–162

Function

Pathways and Gene Ontology

Reactome pathways

6 pathways

ID	Pathway
R-HSA-909733	Interferon alpha/beta signaling
R-HSA-912694	Regulation of IFNA/IFNB signaling
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: 181 (showing top): REACTOME_DDX58_IFIH1_MEDIATED_INDUCTION_OF_INTERFERON_ALPHA_BETA, GOBP_RESPONSE_TO_NITROGEN_COMPOUND, GOBP_CELLULAR_RESPONSE_TO_VIRUS, REACTOME_INNATE_IMMUNE_SYSTEM, REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, GOBP_RESPONSE_TO_PEPTIDE, GOBP_B_CELL_ACTIVATION, GOBP_T_CELL_ACTIVATION_INVOLVED_IN_IMMUNE_RESPONSE, GOBP_RESPONSE_TO_TYPE_I_INTERFERON, ACEVEDO_LIVER_CANCER_WITH_H3K27ME3_UP, MORF_RAD51L3, KEGG_CYTOSOLIC_DNA_SENSING_PATHWAY, GOBP_CELL_ACTIVATION_INVOLVED_IN_IMMUNE_RESPONSE, BIOCARTA_IL1R_PATHWAY, VART_KSHV_INFECTION_ANGIOGENIC_MARKERS_UP

GO Biological Process (13): 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), defense response (GO:0006952), humoral immune response (GO:0006959), signal transduction (GO:0007165), response to exogenous dsRNA (GO:0043330), symbiont entry into host cell (GO:0046718), defense response to virus (GO:0051607), type I interferon-mediated signaling pathway (GO:0060337), cellular response to virus (GO:0098586), antiviral innate immune response (GO:0140374)

GO Molecular Function (4): cytokine activity (GO:0005125), cytokine receptor binding (GO:0005126), type I interferon receptor binding (GO:0005132), protein binding (GO:0005515)

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

Reactome top-level categories

Rollup of top-6 pathways:

Category	Pathways
Interferon Signaling	1
Interferon alpha/beta signaling	1
DDX58/IFIH1-mediated induction of interferon-alpha/beta	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	4
lymphocyte activation involved in immune response	3
innate immune response	2
response to virus	2
T cell activation	1
B cell activation	1
natural killer cell activation	1
response to stress	1
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
response to dsRNA	1
viral life cycle	1
symbiont entry into host	1
defense response	1
cellular response to type I interferon	1
interferon-mediated signaling pathway	1
defense response to virus	1
receptor ligand activity	1
signaling receptor binding	1
cytokine receptor binding	1
protein-containing complex binding	1
binding	1
cellular anatomical structure	1

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

0 interactions, top by confidence:

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	29
Likely benign	5
Benign	4

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	Pathogenic

SpliceAI

256 predictions. Top by Δscore:

Variant	Effect	Δscore
9:21367985:A:T	acceptor_gain	0.9400
9:21367849:C:CT	acceptor_gain	0.9300
9:21440612:G:GT	donor_gain	0.9200
9:21367819:C:CC	acceptor_gain	0.8100
9:21367846:C:CT	acceptor_gain	0.7300
9:21367850:A:T	acceptor_gain	0.7300
9:21367816:CTC:C	acceptor_gain	0.7100
9:21367981:C:CT	acceptor_gain	0.7000
9:21367817:TCCTG:T	acceptor_loss	0.6600
9:21367819:C:T	acceptor_loss	0.6600
9:21367820:T:C	acceptor_loss	0.6600
9:21367984:C:CT	acceptor_gain	0.6600
9:21440853:C:G	donor_gain	0.6600
9:21440877:A:AG	donor_gain	0.6500
9:21367821:G:C	acceptor_loss	0.6400
9:21367815:CCTC:C	acceptor_gain	0.6300
9:21367816:CTCC:C	acceptor_gain	0.6300
9:21367817:TCCT:T	acceptor_gain	0.6300
9:21440697:G:GT	donor_gain	0.6300
9:21367814:TCCTC:T	acceptor_gain	0.6200
9:21367815:CCTCC:C	acceptor_gain	0.6200
9:21367827:A:C	acceptor_loss	0.6200
9:21367975:C:CT	acceptor_gain	0.6100
9:21440865:G:GT	donor_gain	0.6100
9:21367823:GGAAA:G	acceptor_loss	0.5900
9:21440883:G:GT	donor_gain	0.5900
9:21440887:A:T	donor_gain	0.5900
9:21367726:T:TG	acceptor_gain	0.5800
9:21440487:G:GT	donor_gain	0.5800
9:21440543:G:GA	donor_gain	0.5700

AlphaMissense

1247 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:21440946:T:C	F147L	0.950
9:21440948:C:A	F147L	0.950
9:21440948:C:G	F147L	0.950
9:21440682:T:C	F59L	0.941
9:21440684:T:A	F59L	0.941
9:21440684:T:G	F59L	0.941
9:21440999:G:C	W164C	0.930
9:21440999:G:T	W164C	0.930
9:21440778:T:C	F91L	0.861
9:21440780:T:A	F91L	0.861
9:21440780:T:G	F91L	0.861
9:21441011:A:C	R168S	0.860
9:21441011:A:T	R168S	0.860
9:21440807:G:C	W100C	0.846
9:21440807:G:T	W100C	0.846
9:21440997:T:A	W164R	0.828
9:21440997:T:C	W164R	0.828
9:21440968:T:C	L154P	0.819
9:21440944:A:G	Y146C	0.818
9:21440944:A:C	Y146S	0.815
9:21440683:T:G	F59C	0.814
9:21441007:T:A	V167D	0.814
9:21440943:T:C	Y146H	0.812
9:21440964:T:G	Y153D	0.804
9:21440854:T:C	L116P	0.800
9:21440947:T:C	F147S	0.797
9:21440995:C:A	A163D	0.784
9:21440688:T:C	F61L	0.782
9:21440690:T:A	F61L	0.782
9:21440690:T:G	F61L	0.782

dbSNP variants (sampled 300 via entrez): RS1001390567 (9:21438513 A>G), RS1003734366 (9:21439775 G>A), RS1005473124 (9:21440033 C>A,T), RS1005629972 (9:21439825 C>T), RS1005854811 (9:21438744 G>C), RS1006424764 (9:21438534 G>A), RS1007853587 (9:21438831 C>T), RS1008373909 (9:21441521 A>T), RS1008485124 (9:21441263 T>A,C), RS1008707822 (9:21440292 C>G), RS1008822371 (9:21440119 C>G,T), RS1009861734 (9:21439584 T>A), RS1011990723 (9:21440833 G>A,C,T), RS1014640162 (9:21438568 T>C), RS1017501068 (9:21440134 A>C,T)

Disease associations

OMIM: gene MIM:147660 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Fluorouracil	increases reaction, decreases expression, increases cleavage, increases abundance, increases expression (+4 more)	7
Zidovudine	affects cotreatment, decreases expression, increases expression, decreases response to substance, affects expression	4
zinc sulfide	affects cotreatment, affects expression, increases expression	2
alpha-cyano-(3,4-dihydroxy)-N-benzylcinnamide	decreases reaction, increases expression, increases phosphorylation	2
Curcumin	decreases reaction, increases expression, increases reaction	2
Dacarbazine	increases reaction, affects cotreatment, increases expression	2
parthenolide	decreases expression	1
chlortoluron	decreases expression	1
titanium dioxide	increases expression	1
quercitrin	affects expression	1
doxifluridine	increases expression, increases response to substance	1
ursodoxicoltaurine	decreases expression, decreases reaction	1
cadmium selenide	affects cotreatment, increases expression	1
tofacitinib	decreases reaction, increases phosphorylation, affects localization	1
3,5-bis(2-fluorobenzylidene)piperidin-4-one	decreases reaction, increases expression	1
ruxolitinib	decreases reaction, increases phosphorylation, affects localization	1
gardiquimod	decreases reaction, increases expression	1
Resveratrol	decreases reaction, increases expression	1
Arsenic	increases expression, affects cotreatment, decreases expression	1
Cadmium	affects cotreatment, affects expression	1
Dactinomycin	decreases reaction, increases expression	1
Desipramine	decreases expression, decreases reaction	1
Doxorubicin	increases expression, increases response to substance, affects reaction, decreases expression, increases reaction (+1 more)	1
Fluoxetine	decreases expression, decreases reaction	1
Latex	decreases expression	1
Metformin	affects cotreatment, increases expression	1
Nickel	increases expression	1
Oxygen	decreases reaction, increases expression	1
Perfume	decreases expression	1
Plant Extracts	decreases reaction, increases expression	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_E0EK	Ubigene HeLa IFNA1 KO	Cancer cell line	Female

Clinical trials (associated diseases)

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