IFIT2
gene geneOn this page
Also known as IFI-54ISG-54KISG-54cig42GARG-39
Summary
IFIT2 (interferon induced protein with tetratricopeptide repeats 2, HGNC:5409) is a protein-coding gene on chromosome 10q23.31, encoding Interferon-induced protein with tetratricopeptide repeats 2 (P09913). IFN-induced antiviral protein which inhibits expression of viral messenger RNAs lacking 2’-O-methylation of the 5’ cap.
Enables RNA binding activity. Involved in antiviral innate immune response and positive regulation of apoptotic process. Located in endoplasmic reticulum.
Source: NCBI Gene 3433 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 59 total
- MANE Select transcript:
NM_001547
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:5409 |
| Approved symbol | IFIT2 |
| Name | interferon induced protein with tetratricopeptide repeats 2 |
| Location | 10q23.31 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | IFI-54, ISG-54K, ISG-54, cig42, GARG-39 |
| Ensembl gene | ENSG00000119922 |
| Ensembl biotype | protein_coding |
| OMIM | 147040 |
| Entrez | 3433 |
Gene structure
Transcript identifiers
Ensembl transcripts: 15 — 9 protein_coding, 5 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay
ENST00000371826, ENST00000611722, ENST00000638108, ENST00000679606, ENST00000679608, ENST00000679619, ENST00000679734, ENST00000679755, ENST00000680381, ENST00000680558, ENST00000680809, ENST00000680954, ENST00000681150, ENST00000681843, ENST00000681850
RefSeq mRNA: 1 — MANE Select: NM_001547
NM_001547
CCDS: CCDS41548
Canonical transcript exons
ENST00000371826 — 2 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001456236 | 89305962 | 89309271 |
| ENSE00003730418 | 89302046 | 89302128 |
Expression profiles
Bgee: expression breadth ubiquitous, 244 present calls, max score 94.59.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 75.9421 / max 14348.2540, expressed in 1184 samples.
FANTOM5 promoters (11 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 106108 | 74.5990 | 1109 |
| 106111 | 0.3017 | 86 |
| 106100 | 0.2055 | 94 |
| 106123 | 0.1663 | 72 |
| 106121 | 0.1659 | 73 |
| 106119 | 0.1500 | 62 |
| 106101 | 0.0928 | 37 |
| 106109 | 0.0842 | 22 |
| 106112 | 0.0652 | 37 |
| 106122 | 0.0608 | 40 |
Top tissues by expression
280 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| palpebral conjunctiva | UBERON:0001812 | 94.59 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 94.52 | gold quality |
| trigeminal ganglion | UBERON:0001675 | 94.17 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 93.23 | gold quality |
| visceral pleura | UBERON:0002401 | 91.95 | gold quality |
| leukocyte | CL:0000738 | 91.45 | gold quality |
| monocyte | CL:0000576 | 91.40 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 91.38 | gold quality |
| mononuclear cell | CL:0000842 | 91.26 | gold quality |
| parietal pleura | UBERON:0002400 | 90.97 | gold quality |
| dorsal root ganglion | UBERON:0000044 | 90.87 | gold quality |
| pleura | UBERON:0000977 | 90.19 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 90.16 | gold quality |
| jejunal mucosa | UBERON:0000399 | 90.11 | gold quality |
| blood | UBERON:0000178 | 89.86 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 89.72 | gold quality |
| corpus callosum | UBERON:0002336 | 89.64 | gold quality |
| spinal cord | UBERON:0002240 | 89.52 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 89.49 | gold quality |
| ventral tegmental area | UBERON:0002691 | 88.49 | gold quality |
| dorsal plus ventral thalamus | UBERON:0001897 | 88.31 | gold quality |
| pons | UBERON:0000988 | 88.28 | gold quality |
| pericardium | UBERON:0002407 | 88.26 | gold quality |
| globus pallidus | UBERON:0001875 | 88.16 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 88.15 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 88.01 | gold quality |
| granulocyte | CL:0000094 | 87.94 | gold quality |
| medial globus pallidus | UBERON:0002477 | 87.26 | gold quality |
| medulla oblongata | UBERON:0001896 | 85.96 | gold quality |
| tibia | UBERON:0000979 | 85.67 | gold quality |
Single-cell (SCXA)
Detected in 10 experiment(s), a significant marker in 8.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-7052 | yes | 35356.34 |
| E-MTAB-7037 | yes | 15391.33 |
| E-CURD-53 | yes | 4516.32 |
| E-MTAB-10662 | yes | 944.63 |
| E-MTAB-9388 | yes | 456.08 |
| E-HCAD-4 | yes | 45.90 |
| E-HCAD-13 | yes | 23.43 |
| E-GEOD-106540 | no | 2084.37 |
| E-GEOD-109979 | no | 209.65 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): IRF3, IRF6, PTPN22, STAT1, STAT2
miRNA regulators (miRDB)
78 targeting IFIT2, 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-6873-3P | 100.00 | 71.42 | 2626 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-4747-5P | 100.00 | 67.90 | 2681 |
| HSA-MIR-5196-5P | 100.00 | 67.98 | 2761 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-25-3P | 99.98 | 74.60 | 1817 |
| HSA-MIR-32-5P | 99.98 | 75.21 | 1964 |
| HSA-MIR-363-3P | 99.98 | 74.72 | 1821 |
| HSA-MIR-367-3P | 99.98 | 74.83 | 1819 |
| HSA-MIR-92A-3P | 99.98 | 75.21 | 1960 |
| HSA-MIR-92B-3P | 99.98 | 75.25 | 1955 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-4715-3P | 99.98 | 66.03 | 670 |
| HSA-MIR-302C-5P | 99.97 | 72.56 | 3642 |
| HSA-MIR-1250-3P | 99.96 | 70.04 | 4038 |
| HSA-MIR-552-5P | 99.93 | 68.56 | 1583 |
| HSA-MIR-95-5P | 99.89 | 72.17 | 3973 |
| HSA-MIR-221-3P | 99.86 | 71.56 | 1329 |
| HSA-MIR-222-3P | 99.86 | 71.35 | 1337 |
| HSA-MIR-579-3P | 99.86 | 71.66 | 3628 |
| HSA-MIR-659-3P | 99.85 | 70.69 | 1620 |
| HSA-MIR-664B-3P | 99.84 | 71.65 | 3590 |
| HSA-MIR-4307 | 99.82 | 70.45 | 3374 |
| HSA-MIR-4694-3P | 99.79 | 69.53 | 2640 |
| HSA-MIR-320A-3P | 99.77 | 69.73 | 2107 |
| HSA-MIR-320B | 99.77 | 69.73 | 2107 |
| HSA-MIR-320C | 99.77 | 69.73 | 2107 |
Literature-anchored findings (GeneRIF, showing 25)
- The expression of interferon-induced genes IFI-54K and IFI-56K in the infected cells was found to increase 50-100-fold (PMID:12708317)
- We observed that, although double-stranded RNA or Sendai virus infection induced the two genes with similar kinetics, their induction kinetics in response to interferon-beta were quite different. (PMID:16973618)
- IFIT2/GARG39 was identified as a microtubule-associated protein enriched in the mitotic spindle of mouse NIH3T3 and B16F10 melanoma cells. (PMID:17030862)
- IFN-induced protein with tetratricopeptide repeats 2 inhibits migration activity and increases survival of oral squamous cell carcinoma. (PMID:18819931)
- The expression of OASL and IFIT2 was significantly higher in SLE patients than in controls. (PMID:20506645)
- role of ISG54 in the induction of apoptosis via a mitochondrial pathway shedding new light on the mechanism by which IFN elicits anti-viral and anti-cancer effects (PMID:21190939)
- Inhibitor of kappaB kinase epsilon (IKK(epsilon)), STAT1, and IFIT2 proteins define novel innate immune effector pathway against West Nile virus infection. (PMID:22065572)
- ISG54 binds specifically to some RNAs, such as adenylate uridylate (AU)-rich RNAs, with or without 5’ triphosphorylation. (PMID:22825553)
- IFIT2, a protein responsible for interferon stimulation, may prevent oral squamous cell carcinoma (OSCC) metastasis and serve as a valuable prognostic marker. (PMID:22986528)
- Data show that interferon-induced proteins with tetratricopeptide repeats 1 and 2 (IFIT1 and IFIT2) contribute to the regulation of hepatitis B virus (HBV) replication, likely at both transcriptional and posttranscriptional steps. (PMID:23867918)
- Data shows that IFIT2 expression is downregulated in adenocarcinoma of gastric esophageal junction cells; its ectopic expression leads to cell apoptosis, suggesting its role as a tumor suppressor. (PMID:25174799)
- there is a positive feedback loop between phosphorylated STAT1 and ISG56, ISG54 or ISG60. (PMID:26423178)
- LINC00161 is an essential regulator in cisplatin-induced apoptosis, and the LINC00161-miR-645-IFIT2 signalling axis plays an important role in reducing osteosarcoma chemoresistance. (PMID:27609068)
- Mechanistic investigations reveal that AJUBA specifically binds the FERM domain of JAK1 to dissociate JAK1 from the IFNgamma recepter, resulting in an inhibition of STAT1 phosporylation and concomitantly its nuclear translocation. Clinically, the level of AJUBA in CRC specimens is negatively correlated with the levels of IFIT2 and pSTAT1 (PMID:27893714)
- The results of the present study revealed that the inhibition of proteasome activity blocked the degradation of IFIT2 and promoted the aggregation of IFIT2 in the centrosome, which in turn induced cell apoptosis. In short, IFIT2 may be a potential target for cancer therapeutics. (PMID:28367102)
- These studies indicated PLZF inhibited the proliferation and metastasis via regulation of IFIT2. (PMID:29358655)
- IFIT2 and IFIT3 stabilize IFIT1 expression. (PMID:29554348)
- Studied effect of baicalein on gene expression in human breast cancer cell line and found baicalein reduced stem cell-like properties of the cells and induced apoptosis through up-regulation of IFIT2. (PMID:30875792)
- Overexpression of IFIT2 inhibits the proliferation of chronic myeloid leukemia cells by regulating the BCRABL/AKT/mTOR pathway. (PMID:32124954)
- Influenza virus repurposes the antiviral protein IFIT2 to promote translation of viral mRNAs. (PMID:32839537)
- Super-enhancer-associated long noncoding RNA RP11-569A11.1 inhibited cell progression and metastasis by regulating IFIT2 in colorectal cancer. (PMID:33942366)
- PML-II regulates ERK and AKT signal activation and IFNalpha-induced cell death. (PMID:34215258)
- Comprehensive analysis of the prognosis and biological significance for IFIT family in skin cutaneous melanoma. (PMID:34763233)
- Identified Three Interferon Induced Proteins as Novel Biomarkers of Human Ischemic Cardiomyopathy. (PMID:34884921)
- MiR-199a-5P promotes osteogenic differentiation of human stem cells from apical papilla via targeting IFIT2 in apical periodontitis. (PMID:37063854)
Cross-species orthologs
10 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ifit10 | ENSDARG00000007467 |
| danio_rerio | ifit15 | ENSDARG00000043584 |
| danio_rerio | ifit16 | ENSDARG00000056976 |
| danio_rerio | ifit8 | ENSDARG00000057173 |
| danio_rerio | ifit14 | ENSDARG00000071012 |
| danio_rerio | ENSDARG00000088069 | |
| danio_rerio | ifit11 | ENSDARG00000090537 |
| danio_rerio | ifit12 | ENSDARG00000090977 |
| mus_musculus | Ifit2 | ENSMUSG00000045932 |
| rattus_norvegicus | Ifit2 | ENSRNOG00000036604 |
Paralogs (4): IFIT3 (ENSG00000119917), IFIT5 (ENSG00000152778), IFIT1 (ENSG00000185745), IFIT1B (ENSG00000204010)
Protein
Protein identifiers
Interferon-induced protein with tetratricopeptide repeats 2 — P09913 (reviewed: P09913)
Alternative names: ISG-54 K, Interferon-induced 54 kDa protein
All UniProt accessions (5): P09913, A0A087X279, A0A7P0T8B3, A0A7P0T8R6, A0A7P0TAT2
UniProt curated annotations — full annotation on UniProt →
Function. IFN-induced antiviral protein which inhibits expression of viral messenger RNAs lacking 2’-O-methylation of the 5’ cap. The ribose 2’-O-methylation would provide a molecular signature to distinguish between self and non-self mRNAs by the host during viral infection. Viruses evolved several ways to evade this restriction system such as encoding their own 2’-O-methylase for their mRNAs or by stealing host cap containing the 2’-O-methylation (cap snatching mechanism). Binds AU-rich viral RNAs, with or without 5’ triphosphorylation, RNA-binding is required for antiviral activity. Can promote apoptosis.
Subunit / interactions. Domain-swapped homodimer. Component of an interferon-dependent multiprotein complex, at least composed of IFIT1, IFIT2 and IFIT3. Interacts with IFIT1 and IFIT3. Interacts with STING1/MITA and disrupts its interaction with MAVS or TBK1. Interacts with EIF3E and EIF3C.
Subcellular location. Cytoplasm. Endoplasmic reticulum.
Domain organisation. The C-terminal part folds into a super-helical structure and has an extensively positively-charged nucleotide-binding channel on its inner surface.
Induction. By type I interferons, dsRNAs and viruses.
Similarity. Belongs to the IFIT family.
RefSeq proteins (1): NP_001538* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR011990 | TPR-like_helical_dom_sf | Homologous_superfamily |
| IPR019734 | TPR_rpt | Repeat |
Pfam: PF13181
UniProt features (50 total): helix 24, repeat 9, mutagenesis site 5, turn 4, sequence variant 3, initiator methionine 1, chain 1, region of interest 1, compositionally biased region 1, modified residue 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 4G1T | X-RAY DIFFRACTION | 2.8 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P09913-F1 | 88.82 | 0.70 |
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
Mutagenesis-validated functional residues (5):
| Position | Phenotype |
|---|---|
| 184 | abolishes rna-binding. |
| 255 | significantly impairs rna-binding; when associated with glu-259. |
| 259 | significantly impairs rna-binding; when associated with glu-255. |
| 292 | abolishes rna-binding. |
| 410 | abolishes rna-binding. |
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-909733 | Interferon alpha/beta signaling |
MSigDB gene sets: 401 (showing top):
BROWNE_HCMV_INFECTION_4HR_UP, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, GOBP_RESPONSE_TO_PEPTIDE, DORN_ADENOVIRUS_INFECTION_12HR_UP, GOZGIT_ESR1_TARGETS_DN, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, GRAESSMANN_RESPONSE_TO_MC_AND_SERUM_DEPRIVATION_UP, IRF7_01, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, MILI_PSEUDOPODIA_HAPTOTAXIS_UP, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM3, DORN_ADENOVIRUS_INFECTION_32HR_UP, YAO_TEMPORAL_RESPONSE_TO_PROGESTERONE_CLUSTER_6, DER_IFN_BETA_RESPONSE_UP
GO Biological Process (9): apoptotic mitochondrial changes (GO:0008637), response to virus (GO:0009615), positive regulation of apoptotic process (GO:0043065), defense response to virus (GO:0051607), antiviral innate immune response (GO:0140374), immune system process (GO:0002376), apoptotic process (GO:0006915), innate immune response (GO:0045087), response to other organism (GO:0051707)
GO Molecular Function (2): RNA binding (GO:0003723), protein binding (GO:0005515)
GO Cellular Component (3): cytoplasm (GO:0005737), endoplasmic reticulum (GO:0005783), cytosol (GO:0005829)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Interferon Signaling | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| apoptotic process | 2 |
| cellular anatomical structure | 2 |
| cytoplasm | 2 |
| mitochondrion organization | 1 |
| response to other organism | 1 |
| regulation of apoptotic process | 1 |
| positive regulation of programmed cell death | 1 |
| defense response | 1 |
| response to virus | 1 |
| innate immune response | 1 |
| defense response to virus | 1 |
| biological_process | 1 |
| programmed cell death | 1 |
| apoptotic signaling pathway | 1 |
| execution phase of apoptosis | 1 |
| immune response | 1 |
| defense response to symbiont | 1 |
| response to external biotic stimulus | 1 |
| biological process involved in interspecies interaction between organisms | 1 |
| nucleic acid binding | 1 |
| binding | 1 |
| intracellular anatomical structure | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
2573 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| IFIT2 | IFIT3 | O14879 | 929 |
| IFIT2 | RIGI | O95786 | 903 |
| IFIT2 | IFIH1 | Q9BYX4 | 880 |
| IFIT2 | ISG15 | P05161 | 878 |
| IFIT2 | MX1 | P20591 | 856 |
| IFIT2 | STAT1 | P42224 | 851 |
| IFIT2 | OAS1 | P00973 | 831 |
| IFIT2 | OASL | Q15646 | 822 |
| IFIT2 | IFI44 | Q8TCB0 | 818 |
| IFIT2 | RSAD2 | Q8WXG1 | 793 |
| IFIT2 | STAT2 | P52630 | 789 |
| IFIT2 | IFITM3 | Q01628 | 770 |
| IFIT2 | ISG20 | Q96AZ6 | 766 |
| IFIT2 | CXCL10 | P02778 | 742 |
| IFIT2 | OAS2 | P29728 | 742 |
IntAct
18 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| IFIT1 | IFIT3 | psi-mi:“MI:0914”(association) | 0.920 |
| IFIT2 | IFIT3 | psi-mi:“MI:0914”(association) | 0.780 |
| IFIT3 | IFIT2 | psi-mi:“MI:0915”(physical association) | 0.780 |
| IFIT2 | IFIT1 | psi-mi:“MI:0915”(physical association) | 0.750 |
| STING1 | IFIT2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| STING1 | IFIT2 | psi-mi:“MI:0914”(association) | 0.560 |
| IFIT2 | DNTTIP2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| PABPC4 | psi-mi:“MI:0914”(association) | 0.350 | |
| rep | DDX3X | psi-mi:“MI:0914”(association) | 0.350 |
| IFIT3 | HNRNPDL | psi-mi:“MI:0914”(association) | 0.350 |
| MAVS | IFIT3 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (91): NUTM1 (Two-hybrid), IFIT3 (Two-hybrid), IFIT2 (Affinity Capture-MS), PHACTR4 (Affinity Capture-MS), IFIT1 (Affinity Capture-MS), HOMER3 (Affinity Capture-MS), IFIT3 (Affinity Capture-MS), BATF3 (Affinity Capture-MS), POLG2 (Affinity Capture-MS), RAB11B (Affinity Capture-MS), IFIT2 (Two-hybrid), IFIT2 (Affinity Capture-MS), IFIT2 (Affinity Capture-MS), IFIT2 (Affinity Capture-MS), IFIT2 (Two-hybrid)
ESM2 similar proteins: A1A5P5, A1L1K3, A7SUU7, B4JHK2, B4NKT1, E9Q6P5, F1QN74, P09913, P50748, Q0P5W1, Q14CX7, Q294E0, Q2KI89, Q32NR4, Q32PH0, Q3U0M1, Q4R6I5, Q4R6M4, Q5R629, Q5RE52, Q5U249, Q5ZKK3, Q60462, Q68F70, Q6AYP3, Q6PA97, Q6QI44, Q80VM3, Q86TV6, Q8BGB2, Q8BH74, Q8BTZ4, Q8BWZ3, Q8C0S4, Q8CIM8, Q8GZN1, Q8IYW2, Q8JGR7, Q8K368, Q8N3P4
Diamond homologs: A5A6J9, O14879, P09913, P09914, Q13325, Q4R5F5, Q5T764, Q60462, Q64112, Q64282, Q64345
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
59 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 51 |
| Likely benign | 5 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
149 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 10:89305960:A:AG | acceptor_gain | 1.0000 |
| 10:89305961:G:GG | acceptor_gain | 1.0000 |
| 10:89305958:A:AG | acceptor_gain | 0.9900 |
| 10:89305958:ACAGT:A | acceptor_gain | 0.9900 |
| 10:89305959:C:G | acceptor_gain | 0.9900 |
| 10:89305959:CAG:C | acceptor_loss | 0.9900 |
| 10:89305959:CAGTG:C | acceptor_gain | 0.9900 |
| 10:89305960:A:AC | acceptor_loss | 0.9900 |
| 10:89305960:AGT:A | acceptor_gain | 0.9900 |
| 10:89305960:AGTGA:A | acceptor_gain | 0.9900 |
| 10:89305961:G:GA | acceptor_loss | 0.9900 |
| 10:89305961:GT:G | acceptor_gain | 0.9900 |
| 10:89305961:GTG:G | acceptor_gain | 0.9900 |
| 10:89305961:GTGA:G | acceptor_gain | 0.9900 |
| 10:89305961:GTGAG:G | acceptor_gain | 0.9900 |
| 10:89302129:GT:G | donor_loss | 0.9800 |
| 10:89302104:C:G | donor_gain | 0.9700 |
| 10:89302126:GAG:G | donor_gain | 0.9600 |
| 10:89302125:TGAG:T | donor_gain | 0.9200 |
| 10:89302126:G:GT | donor_gain | 0.9200 |
| 10:89302129:G:GG | donor_gain | 0.9200 |
| 10:89302124:ATGAG:A | donor_gain | 0.8500 |
| 10:89302127:AG:A | donor_gain | 0.8300 |
| 10:89302128:GG:G | donor_gain | 0.8300 |
| 10:89305962:TG:T | acceptor_gain | 0.7800 |
| 10:89302444:A:G | donor_gain | 0.7000 |
| 10:89302608:A:G | donor_gain | 0.6500 |
| 10:89305962:T:TA | acceptor_gain | 0.6100 |
| 10:89308943:TGG:T | acceptor_gain | 0.6000 |
| 10:89305947:T:TA | acceptor_gain | 0.5900 |
AlphaMissense
3138 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 10:89306014:T:C | F20L | 0.978 |
| 10:89306016:C:A | F20L | 0.978 |
| 10:89306016:C:G | F20L | 0.978 |
| 10:89307148:G:C | G398R | 0.971 |
| 10:89306253:C:A | N99K | 0.963 |
| 10:89306253:C:G | N99K | 0.963 |
| 10:89307089:G:A | G378D | 0.963 |
| 10:89307094:T:C | F380L | 0.963 |
| 10:89307096:T:A | F380L | 0.963 |
| 10:89307096:T:G | F380L | 0.963 |
| 10:89306437:T:C | F161L | 0.962 |
| 10:89306439:T:A | F161L | 0.962 |
| 10:89306439:T:G | F161L | 0.962 |
| 10:89306716:G:C | A254P | 0.961 |
| 10:89306020:T:A | W22R | 0.955 |
| 10:89306020:T:C | W22R | 0.955 |
| 10:89306911:G:C | A319P | 0.955 |
| 10:89306557:G:C | A201P | 0.953 |
| 10:89306386:T:A | W144R | 0.952 |
| 10:89306386:T:C | W144R | 0.952 |
| 10:89306924:T:C | L323P | 0.952 |
| 10:89307127:G:C | A391P | 0.952 |
| 10:89307149:G:A | G398D | 0.949 |
| 10:89306978:C:A | A341D | 0.948 |
| 10:89306008:T:C | C18R | 0.946 |
| 10:89306819:G:A | G288E | 0.946 |
| 10:89307025:T:C | F357L | 0.946 |
| 10:89307027:C:A | F357L | 0.946 |
| 10:89307027:C:G | F357L | 0.946 |
| 10:89306388:G:C | W144C | 0.945 |
dbSNP variants (sampled 300 via entrez): RS1000666231 (10:89305208 G>A), RS1000773546 (10:89305844 G>C), RS1000839336 (10:89307595 G>A), RS1001122810 (10:89304040 G>A,C), RS1001486394 (10:89309658 T>C), RS1002122190 (10:89305745 C>T), RS1002262283 (10:89302435 C>G,T), RS1003231876 (10:89303798 G>A), RS1003304988 (10:89305099 G>A,C), RS1003371895 (10:89300858 G>A,T), RS1003518821 (10:89300310 A>G), RS1003693674 (10:89303974 C>T), RS1004054475 (10:89303951 T>A,C), RS1004408228 (10:89303731 C>T), RS1004616121 (10:89304369 G>A)
Disease associations
OMIM: gene MIM:147040 | 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
101 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | affects cotreatment, increases expression | 3 |
| monomethylarsonous acid | affects expression, decreases expression, increases expression | 3 |
| Tretinoin | decreases expression, increases expression | 3 |
| bisphenol A | increases expression, decreases methylation | 2 |
| sulforaphane | increases expression | 2 |
| Acetaminophen | decreases expression | 2 |
| Cisplatin | affects cotreatment, increases expression | 2 |
| Estradiol | affects cotreatment, decreases expression, increases expression | 2 |
| Formaldehyde | decreases expression, increases expression | 2 |
| Lipopolysaccharides | increases expression, affects cotreatment, decreases reaction | 2 |
| Poly I-C | affects cotreatment, decreases reaction, increases expression | 2 |
| Silicon Dioxide | increases expression | 2 |
| Valproic Acid | decreases expression, affects expression | 2 |
| Cyclosporine | decreases expression | 2 |
| Asbestos, Serpentine | decreases expression | 2 |
| 3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide | decreases expression | 1 |
| GSK-J4 | increases expression | 1 |
| afuresertib | increases expression | 1 |
| takinib | decreases reaction, increases expression | 1 |
| PAM2-CSK4 | affects reaction, decreases reaction, increases expression | 1 |
| TL8-506 | affects cotreatment, increases expression | 1 |
| 22-hydroxycholesterol | increases expression | 1 |
| ethylbenzene | increases expression | 1 |
| methylmercuric chloride | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| pirinixic acid | affects binding, increases activity, increases expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| butyraldehyde | decreases expression | 1 |
| perfluorooctanoic acid | decreases expression | 1 |
| tobacco tar | decreases expression | 1 |
Cellosaurus cell lines
2 cell lines: 2 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B1FV | Abcam A-549 IFIT2 KO 1 | Cancer cell line | Male |
| CVCL_B2NE | Abcam A-549 IFIT2 KO 2 | Cancer cell line | Male |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.