OASL

Summary

OASL (2’-5’-oligoadenylate synthetase like, HGNC:8090) is a protein-coding gene on chromosome 12q24.31, encoding 2’-5’-oligoadenylate synthase-like protein (Q15646). Does not have 2’-5’-OAS activity, but can bind double-stranded RNA.

Enables DNA binding activity and double-stranded RNA binding activity. Involved in several processes, including interleukin-27-mediated signaling pathway; negative regulation of viral genome replication; and positive regulation of RIG-I signaling pathway. Located in cytosol; nucleolus; and nucleoplasm.

Source: NCBI Gene 8638 — RefSeq curated summary.

At a glance

• GWAS associations: 17
• Clinical variants (ClinVar): 82 total
• MANE Select transcript: NM_003733

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:8090
Approved symbol	OASL
Name	2’-5’-oligoadenylate synthetase like
Location	12q24.31
Locus type	gene with protein product
Status	Approved
Aliases	TRIP14, p59OASL, OASL1
Ensembl gene	ENSG00000135114
Ensembl biotype	protein_coding
OMIM	603281
Entrez	8638

Gene structure

Transcript identifiers

Ensembl transcripts: 11 — 6 protein_coding, 3 nonsense_mediated_decay, 2 retained_intron

ENST00000257570, ENST00000339275, ENST00000543677, ENST00000620239, ENST00000679358, ENST00000679655, ENST00000680485, ENST00000680620, ENST00000680750, ENST00000681005, ENST00000681590

RefSeq mRNA: 5 — MANE Select: NM_003733 NM_001261825, NM_001395418, NM_001395419, NM_003733, NM_198213

CCDS: CCDS73536, CCDS91762, CCDS9211, CCDS9212

Canonical transcript exons

ENST00000257570 — 6 exons

Exon	Start	End
ENSE00000918260	121027576	121027817
ENSE00000918261	121031442	121031617
ENSE00000918262	121033461	121033743
ENSE00003647561	121023990	121024137
ENSE00003735957	121019111	121021058
ENSE00003978290	121038774	121039246

Expression profiles

Bgee: expression breadth ubiquitous, 186 present calls, max score 87.93.

FANTOM5 (CAGE): breadth broad, TPM avg 31.4865 / max 4779.4101, expressed in 774 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
133689	30.8715	761
133690	0.2423	68
133691	0.2356	69
133692	0.1371	62

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
granulocyte	CL:0000094	87.93	gold quality
blood	UBERON:0000178	85.41	gold quality
pancreatic ductal cell	CL:0002079	84.11	gold quality
leukocyte	CL:0000738	83.58	gold quality
monocyte	CL:0000576	83.18	gold quality
mononuclear cell	CL:0000842	83.15	gold quality
ileal mucosa	UBERON:0000331	82.52	gold quality
mucosa of transverse colon	UBERON:0004991	79.79	gold quality
decidua	UBERON:0002450	77.56	silver quality
right lung	UBERON:0002167	76.99	gold quality
colonic mucosa	UBERON:0000317	76.57	gold quality
right lobe of liver	UBERON:0001114	75.03	gold quality
bone marrow	UBERON:0002371	75.03	gold quality
mucosa of sigmoid colon	UBERON:0004993	74.88	gold quality
upper lobe of left lung	UBERON:0008952	73.06	gold quality
vermiform appendix	UBERON:0001154	72.55	gold quality
body of stomach	UBERON:0001161	72.35	gold quality
buccal mucosa cell	CL:0002336	72.20	silver quality
periodontal ligament	UBERON:0008266	72.02	gold quality
upper lobe of lung	UBERON:0008948	71.77	gold quality
tibialis anterior	UBERON:0001385	71.69	silver quality
colonic epithelium	UBERON:0000397	71.46	silver quality
liver	UBERON:0002107	71.24	gold quality
rectum	UBERON:0001052	70.92	gold quality
gall bladder	UBERON:0002110	70.47	gold quality
bone marrow cell	CL:0002092	69.53	gold quality
mucosa of urinary bladder	UBERON:0001259	69.52	silver quality
lung	UBERON:0002048	69.02	gold quality
stomach	UBERON:0000945	68.91	gold quality
lower esophagus mucosa	UBERON:0035834	68.47	gold quality

Single-cell (SCXA)

Detected in 5 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-MTAB-7052	yes	3994.57
E-CURD-53	yes	1784.04
E-ANND-3	yes	5.35
E-GEOD-99795	no	6704.14
E-MTAB-7606	no	5144.91

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): MYCN, STAT1

miRNA regulators (miRDB)

12 targeting OASL, 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-LET-7A-2-3P	99.87	70.53	1921
HSA-LET-7G-3P	99.85	70.43	1929
HSA-MIR-6734-3P	99.15	66.27	1627
HSA-MIR-6506-5P	99.04	65.66	1386
HSA-MIR-942-3P	98.81	69.04	876
HSA-MIR-619-5P	98.57	64.97	1988
HSA-MIR-146B-3P	97.83	65.29	782
HSA-MIR-4314	97.50	67.30	1369
HSA-MIR-148B-5P	97.29	66.30	992
HSA-MIR-6874-3P	97.29	66.34	975
HSA-MIR-552-3P	96.68	64.12	1026
HSA-MIR-759	96.16	66.77	873

Literature-anchored findings (GeneRIF, showing 14)

• interaction with methyl CpG-binding protein 1 was confirmed in vitro and in vivo and was mapped to the ubiquitin-like domain of p59 OASL (PMID:14728690)
• Proof that OASL is an antiviral protein that works through a novel mechanism distinct from other OASL proteins in other vertebrate species. (PMID:18931074)
• The pronounced difference in gene regulation between the OASL gene agrees with a functional difference between these genes, which must exist as a consequence of the lack of the 2-5A synthetase activity of the OASL protein. (PMID:19203244)
• OASLa, a major isoform of OASL induced in human liver, may mediate anti-HCV activity through two different domains. (PMID:20074559)
• The expression of OASL and IFIT2 was significantly higher in SLE patients than in controls. (PMID:20506645)
• variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits (PMID:21943158)
• we propose that VSV treatment combined with the selective regulation of genes such as STAT1 and OASL2 will improve therapeutic outcomes for CUG2-overexpressing tumors (PMID:23306614)
• Primary mononuclear cells from patients with systemic sclerosis have increased basal levels of OASL and OAS2 genes. (PMID:24328427)
• these findings show a mechanism by which human OASL contributes to host antiviral responses by enhancing RIG-I activation. (PMID:24931123)
• OASL acts as a cellular antiviral protein and RSV NS1 suppresses this function to evade cellular innate immunity and allow virus growth. (PMID:26178980)
• These data uncover a promycobacterial role for STING-dependent OASL production during Mycobacterium leprae infection that directs the host immune response toward a niche that permits survival of the pathogen. (PMID:27190175)
• these resulta define distinct mechanisms by which OASL differentially regulates host IFN responses during RNA and DNA virus infection and identify OASL as a negative-feedback regulator of cGAS (PMID:30635239)
• OASL regulates pro-inflammatory mediators such as cytokines and chemokines which suppress intracellular mycobacterial growth and survival. (PMID:31855809)
• Peptidase inhibitor 16 promotes proliferation of pancreatic ductal adenocarcinoma cells through OASL signaling. (PMID:38353288)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Oasl1	ENSMUSG00000041827
rattus_norvegicus	Oasl	ENSRNOG00000001187

Paralogs (3): OAS1 (ENSG00000089127), OAS3 (ENSG00000111331), OAS2 (ENSG00000111335)

Protein

Protein identifiers

2’-5’-oligoadenylate synthase-like protein — Q15646 (reviewed: Q15646)

Alternative names: 2’-5’-OAS-related protein, 59 kDa 2’-5’-oligoadenylate synthase-like protein, Thyroid receptor-interacting protein 14, p59 OASL

All UniProt accessions (5): A0A7P0T9H8, A0A7P0TB39, A0A7P0TBF4, Q15646, H0YGP3

UniProt curated annotations — full annotation on UniProt →

Function. Does not have 2’-5’-OAS activity, but can bind double-stranded RNA. Displays antiviral activity against encephalomyocarditis virus (EMCV) and hepatitis C virus (HCV) via an alternative antiviral pathway independent of RNase L.

Subunit / interactions. Specifically interacts with the ligand binding domain of the thyroid receptor (TR). TRIP14 does not require the presence of thyroid hormone for its interaction. Binds MBD1.

Subcellular location. Nucleus. Nucleolus. Cytoplasm Cytoplasm.

Tissue specificity. Expressed in most tissues, with the highest levels in primary blood Leukocytes and other hematopoietic system tissues, colon, stomach and to some extent in testis.

Domain organisation. The ubiquitin-like domains are essential for its antiviral activity.

Induction. By type I interferon (IFN) and viruses.

Miscellaneous. Has antiviral activity against RNA viruses.

Similarity. Belongs to the 2-5A synthase family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q15646-1	p56, OASL a	yes
Q15646-2	p30
Q15646-3	3, OASL d

RefSeq proteins (5): NP_001248754, NP_001382347, NP_001382348, NP_003724, NP_937856 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000626	Ubiquitin-like_dom	Domain
IPR006116	NT_2-5OAS_ClassI-CCAase	Domain
IPR006117	2-5OAS_C_CS	Conserved_site
IPR018952	2-5-oligoAdlate_synth_1_dom2/C	Domain
IPR029071	Ubiquitin-like_domsf	Homologous_superfamily
IPR043518	2-5OAS_N_CS	Conserved_site
IPR043519	NT_sf	Homologous_superfamily

Pfam: PF00240, PF10421

Enzyme classification (BRENDA):

• EC 2.7.7.84 — 2’-5’ oligoadenylate synthase (BRENDA: 12 organisms, 43 substrates, 21 inhibitors, 5 Km, 5 kcat entries)

Substrate kinetics (BRENDA)

2 substrates with measured Km, best-characterized 2. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
NAD+	0.0011–0.0014	3
ATP	0.0004–0.0017	2

UniProt features (58 total): helix 20, strand 14, sequence conflict 10, turn 5, splice variant 3, domain 2, initiator methionine 1, chain 1, modified residue 1, sequence variant 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
4XQ7	X-RAY DIFFRACTION	1.6
1WH3	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q15646-F1	92.54	0.83

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): 2

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-877300	Interferon gamma signaling
R-HSA-8983711	OAS antiviral response
R-HSA-909733	Interferon alpha/beta signaling

MSigDB gene sets: 372 (showing top): BROWNE_HCMV_INFECTION_4HR_UP, REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, GOBP_RESPONSE_TO_PEPTIDE, MODULE_45, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, GOBP_NEGATIVE_REGULATION_OF_VIRAL_PROCESS, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GOBP_RESPONSE_TO_TYPE_I_INTERFERON, MONNIER_POSTRADIATION_TUMOR_ESCAPE_UP, GOBP_POSITIVE_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS, GALE_APL_WITH_FLT3_MUTATED_DN, BENNETT_SYSTEMIC_LUPUS_ERYTHEMATOSUS, IRF7_01, GOBP_REGULATION_OF_IMMUNE_RESPONSE, MODULE_75

GO Biological Process (10): response to virus (GO:0009615), negative regulation of viral genome replication (GO:0045071), defense response to virus (GO:0051607), type I interferon-mediated signaling pathway (GO:0060337), interleukin-27-mediated signaling pathway (GO:0070106), antiviral innate immune response (GO:0140374), positive regulation of RIG-I signaling pathway (GO:1900246), immune system process (GO:0002376), innate immune response (GO:0045087), defense response to other organism (GO:0098542)

GO Molecular Function (6): DNA binding (GO:0003677), RNA binding (GO:0003723), double-stranded RNA binding (GO:0003725), nucleotidyltransferase activity (GO:0016779), nuclear thyroid hormone receptor binding (GO:0046966), protein binding (GO:0005515)

GO Cellular Component (6): nucleoplasm (GO:0005654), nucleolus (GO:0005730), cytoplasm (GO:0005737), cytosol (GO:0005829), membrane (GO:0016020), nucleus (GO:0005634)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Interferon Signaling	2
Antimicrobial mechanism of IFN-stimulated genes	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
response to other organism	2
defense response	2
nucleic acid binding	2
nuclear lumen	2
viral genome replication	1
regulation of viral genome replication	1
negative regulation of viral process	1
response to virus	1
cellular response to type I interferon	1
interferon-mediated signaling pathway	1
cytokine-mediated signaling pathway	1
innate immune response	1
defense response to virus	1
RIG-I signaling pathway	1
regulation of RIG-I signaling pathway	1
positive regulation of pattern recognition receptor signaling pathway	1
positive regulation of intracellular signal transduction	1
biological_process	1
immune response	1
defense response to symbiont	1
RNA binding	1
transferase activity, transferring phosphorus-containing groups	1
nuclear receptor binding	1
binding	1
intracellular membraneless organelle	1
intracellular anatomical structure	1
cytoplasm	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

4428 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OASL	RIGI	O95786	974
OASL	RNASEL	Q05823	915
OASL	ISG15	P05161	906
OASL	RSAD2	Q8WXG1	896
OASL	MX1	P20591	852
OASL	IFIT1	P09914	851
OASL	IFIT3	O14879	827
OASL	IFIT2	P09913	822
OASL	IFI44L	Q53G44	800
OASL	IFI6	P09912	787
OASL	IFI27	P40305	785
OASL	IFI44	Q8TCB0	778
OASL	IFIH1	Q9BYX4	773
OASL	IFITM3	Q01628	745
OASL	DDX60	Q8IY21	745

IntAct

56 interactions, top by confidence:

A	B	Type	Score
MORF4L1	SIN3B	psi-mi:“MI:0914”(association)	0.730
LARP7	OASL	psi-mi:“MI:0915”(physical association)	0.620
NPM1	MPHOSPH10	psi-mi:“MI:0914”(association)	0.610
SOX2	MYH10	psi-mi:“MI:0914”(association)	0.530
MAGEB2	GTPBP10	psi-mi:“MI:0914”(association)	0.530
RPS2	MPHOSPH10	psi-mi:“MI:0914”(association)	0.530
SEZ6L2	OASL	psi-mi:“MI:0915”(physical association)	0.370
Map9	TRAF3IP2	psi-mi:“MI:0914”(association)	0.350
Klc3	ZC3HAV1	psi-mi:“MI:0914”(association)	0.350
TM9SF4		psi-mi:“MI:0914”(association)	0.350
CD14	PHF20L1	psi-mi:“MI:0914”(association)	0.350
Spire2	KLF4	psi-mi:“MI:0914”(association)	0.350
SORT1	SH3PXD2B	psi-mi:“MI:0914”(association)	0.350
TMEM63B	CAV1	psi-mi:“MI:0914”(association)	0.350
OASL	LARP1	psi-mi:“MI:0914”(association)	0.350
sifA	DHX15	psi-mi:“MI:0914”(association)	0.350
rl3_rl3l_human	MPHOSPH10	psi-mi:“MI:0914”(association)	0.350
OASL	ZNF316	psi-mi:“MI:0914”(association)	0.350
CCR1	UBA6	psi-mi:“MI:0914”(association)	0.350
RPLP0	ZNF320	psi-mi:“MI:0914”(association)	0.350
RPL4	ZNF320	psi-mi:“MI:0914”(association)	0.350
ZNF668	GTPBP10	psi-mi:“MI:0914”(association)	0.350
PRKRA	GTPBP10	psi-mi:“MI:0914”(association)	0.350
NEIL1	GTPBP10	psi-mi:“MI:0914”(association)	0.350
ZNF346	POTEF	psi-mi:“MI:0914”(association)	0.350
C18orf21	A2ML1	psi-mi:“MI:0914”(association)	0.350
RPS6		psi-mi:“MI:0914”(association)	0.350
H1-1		psi-mi:“MI:0914”(association)	0.350
DGCR8		psi-mi:“MI:0914”(association)	0.350
ABT1		psi-mi:“MI:0914”(association)	0.350

BioGRID (256): OASL (Affinity Capture-MS), OASL (Affinity Capture-MS), OASL (Affinity Capture-MS), OASL (Affinity Capture-MS), OASL (Affinity Capture-MS), OASL (Affinity Capture-MS), OASL (Affinity Capture-MS), OASL (Affinity Capture-MS), OASL (Affinity Capture-MS), ACAD9 (Affinity Capture-MS), AKAP8 (Affinity Capture-MS), ALYREF (Affinity Capture-MS), ATAD3A (Affinity Capture-MS), BAG5 (Affinity Capture-MS), BMS1 (Affinity Capture-MS)

ESM2 similar proteins: A4IG61, A7MB64, D3ZUM2, E9Q9A9, F1N3B8, G1SRW8, G3V645, P00973, P0C7P3, P11928, P29728, Q05961, Q08AI8, Q15646, Q29599, Q3TNL8, Q3U3W5, Q567X9, Q5BKD0, Q5MYT7, Q5MYT9, Q5MYU0, Q5NCS9, Q5RBN0, Q5XIS8, Q60856, Q6GNM3, Q6GQ81, Q6PDS3, Q7TNH6, Q7Z7L1, Q8BGG7, Q8BGV8, Q8CEZ4, Q8CI17, Q8CJ00, Q8IWB1, Q8IXQ6, Q8N7F7, Q8N8X9

Diamond homologs: E9Q9A9, F1N3B8, G3V645, P00973, P11928, P29728, Q05961, Q15646, Q29599, Q5BKD0, Q5MYT7, Q5MYT9, Q5MYU0, Q60856, Q8VI93, Q8VI94, Q8VI95, Q924S2, Q9Y6K5, Q9Z2F2, G1SK22, P0C224, P0C273, P0C275, P0C276, P0DXC2, P14794, P14795, P14799, P15357, P16709, P18101, P19848, P29504, P46575, P49633, P62975, P62978, P62979, P62982

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 75 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Eukaryotic Translation Initiation	5	29.7×	9e-06
Cap-dependent Translation Initiation	5	29.7×	9e-06
SARS-CoV-1 modulates host translation machinery	5	29.7×	9e-06
Peptide chain elongation	11	26.8×	2e-11
Viral mRNA Translation	11	26.8×	2e-11
Eukaryotic Translation Elongation	5	26.8×	1e-05
PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA	11	26.6×	2e-11
Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S	5	26.1×	2e-05

GO biological processes:

GO term	Partners	Fold	FDR
cytoplasmic translation	11	30.0×	4e-11
translation	11	16.6×	1e-08
rRNA processing	6	12.5×	2e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	66
Likely benign	12
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

654 predictions. Top by Δscore:

Variant	Effect	Δscore
12:121021054:GCCCT:G	acceptor_gain	1.0000
12:121021055:CCCT:C	acceptor_gain	1.0000
12:121021055:CCCTC:C	acceptor_gain	1.0000
12:121021056:CCTC:C	acceptor_gain	1.0000
12:121021057:CT:C	acceptor_gain	1.0000
12:121021059:C:CA	acceptor_loss	1.0000
12:121021059:C:CC	acceptor_gain	1.0000
12:121021060:T:C	acceptor_loss	1.0000
12:121023984:CATTA:C	donor_loss	1.0000
12:121023985:ATTAC:A	donor_loss	1.0000
12:121023986:TTA:T	donor_loss	1.0000
12:121023987:TACCT:T	donor_loss	1.0000
12:121023988:A:C	donor_loss	1.0000
12:121023989:C:CA	donor_loss	1.0000
12:121023989:CCT:C	donor_gain	1.0000
12:121024019:C:CA	donor_gain	1.0000
12:121024133:TGGGC:T	acceptor_gain	1.0000
12:121024136:GCC:G	acceptor_loss	1.0000
12:121024138:C:CC	acceptor_gain	1.0000
12:121024138:C:CG	acceptor_loss	1.0000
12:121024139:T:A	acceptor_loss	1.0000
12:121027575:CCTCT:C	donor_gain	1.0000
12:121031440:ACCTG:A	donor_loss	1.0000
12:121031441:C:CT	donor_loss	1.0000
12:121031441:CCTG:C	donor_gain	1.0000
12:121033455:CCTTA:C	donor_loss	1.0000
12:121033457:TTACC:T	donor_loss	1.0000
12:121033458:TACCC:T	donor_loss	1.0000
12:121033459:A:AG	donor_loss	1.0000
12:121033459:AC:A	donor_gain	1.0000

AlphaMissense

3389 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:121024082:A:G	W319R	0.996
12:121024082:A:T	W319R	0.996
12:121024080:C:A	W319C	0.993
12:121024080:C:G	W319C	0.993
12:121031453:A:G	W216R	0.989
12:121031453:A:T	W216R	0.989
12:121024081:C:G	W319S	0.981
12:121027745:A:G	W244R	0.980
12:121027745:A:T	W244R	0.980
12:121024072:A:T	V322D	0.978
12:121020726:C:A	K460N	0.976
12:121020726:C:G	K460N	0.976
12:121027678:A:G	L266P	0.975
12:121024061:C:G	A326P	0.974
12:121027762:A:G	L238P	0.974
12:121024129:A:G	I303T	0.973
12:121024129:A:T	I303N	0.972
12:121027646:A:G	W277R	0.970
12:121027646:A:T	W277R	0.970
12:121024001:A:G	W346R	0.968
12:121024001:A:T	W346R	0.968
12:121024060:G:T	A326D	0.968
12:121031451:C:A	W216C	0.968
12:121031451:C:G	W216C	0.968
12:121031478:C:A	K207N	0.968
12:121031478:C:G	K207N	0.968
12:121024129:A:C	I303S	0.967
12:121027644:C:A	W277C	0.967
12:121027644:C:G	W277C	0.967
12:121027713:G:C	F254L	0.967

dbSNP variants (sampled 300 via entrez): RS1000201669 (12:121025385 T>C), RS1000308630 (12:121021509 C>A,T), RS1000424759 (12:121031829 T>A), RS1000480630 (12:121026839 A>G), RS1000532486 (12:121027053 T>G), RS1000536077 (12:121040206 G>C,T), RS1000567798 (12:121033627 C>T), RS1000575791 (12:121021814 A>G), RS1000794832 (12:121032748 A>G), RS1001027941 (12:121039944 T>G), RS1001178776 (12:121031084 G>T), RS1001234130 (12:121037300 C>G), RS1001328230 (12:121024864 A>G), RS1001428960 (12:121020292 C>T), RS1001486261 (12:121024631 C>A,T)

Disease associations

OMIM: gene MIM:603281 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

17 associations (top):

Study	Trait	p-value
GCST000925_2	N-glycan levels	2.000000e-08
GCST000925_6	N-glycan levels	4.000000e-08
GCST001247_10	Cardiovascular disease risk factors	4.000000e-15
GCST001650_6	C-reactive protein	3.000000e-10
GCST002424_2	C-reactive protein levels	3.000000e-10
GCST005046_13	N-glycan levels	4.000000e-10
GCST005046_14	N-glycan levels	4.000000e-08
GCST005046_15	N-glycan levels	8.000000e-12
GCST005046_16	N-glycan levels	3.000000e-11
GCST005046_17	N-glycan levels	4.000000e-09
GCST005046_18	N-glycan levels	5.000000e-10
GCST006249_32	Serum metabolite levels	4.000000e-30
GCST006867_119	Type 2 diabetes	2.000000e-14
GCST007615_71	C-reactive protein levels	2.000000e-71
GCST90002383_18	Hematocrit	1.000000e-18
GCST90002384_321	Hemoglobin	5.000000e-24
GCST90011898_10	Alanine aminotransferase levels	6.000000e-12

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0004999	N-glycan measurement
EFO:0004532	serum gamma-glutamyl transferase measurement
EFO:0004458	C-reactive protein measurement
EFO:0004348	hematocrit
EFO:0004509	hemoglobin measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB clinical annotations

1 annotations.

Variant	Type	Level	Drugs	Phenotypes
rs12819210	Efficacy	3	peginterferon alfa-2b;ribavirin	Hepatitis C virus infection

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs12819210	C12orf43, OASL	3	2.25	1	peginterferon alfa-2b;ribavirin

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, affects cotreatment, increases expression	4
Silicon Dioxide	increases expression	3
hydroquinone	increases expression	2
Arsenic	increases methylation, decreases expression, increases abundance	2
Benzo(a)pyrene	decreases expression	2
Calcitriol	decreases expression	2
Estradiol	affects cotreatment, decreases expression, increases expression	2
Lipopolysaccharides	increases expression, affects cotreatment, decreases reaction	2
Nickel	increases expression	2
Tobacco Smoke Pollution	decreases expression	2
Asbestos, Serpentine	decreases expression, increases expression	2
sotorasib	affects cotreatment, increases expression	1
TL8-506	affects cotreatment, increases expression	1
triphenyl phosphate	affects expression	1
propionaldehyde	increases expression	1
pirinixic acid	affects binding, increases activity, increases expression	1
sodium arsenate	increases abundance, decreases expression	1
2,5,2’,5’-tetrachlorobiphenyl	decreases expression	1
beta-lapachone	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
cobaltous chloride	increases expression	1
butyraldehyde	increases expression	1
zinc chromate	increases abundance, decreases expression	1
chloroquine diphosphate	decreases expression	1
nickel sulfate	increases expression	1
1-nitropyrene	increases expression	1
S-(1,2-dichlorovinyl)cysteine	decreases reaction, affects cotreatment, increases expression	1
pentanal	increases expression	1
tamibarotene	increases expression	1
chromium hexavalent ion	decreases expression, increases abundance	1

Cellosaurus cell lines

3 cell lines: 3 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B1GS	Abcam A-549 OASL KO 1	Cancer cell line	Male
CVCL_B2PB	Abcam A-549 OASL KO 2	Cancer cell line	Male
CVCL_F1UA	HyCyte THP-1 KO-hOASL	Cancer cell line	Male

Clinical trials (associated diseases)

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