IFI44L
gene geneOn this page
Also known as GS3686TLDC5B
Summary
IFI44L (interferon induced protein 44 like, HGNC:17817) is a protein-coding gene on chromosome 1p31.1, encoding Interferon-induced protein 44-like (Q53G44). Type I interferon-stimulated gene (ISG) that plays a critical role in antiviral and antibacterial activity.
Predicted to be involved in immune response. Predicted to act upstream of or within cellular response to virus. Predicted to be located in cytoplasm.
Source: NCBI Gene 10964 — RefSeq curated summary.
At a glance
- GWAS associations: 8
- Clinical variants (ClinVar): 93 total
- MANE Select transcript:
NM_006820
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:17817 |
| Approved symbol | IFI44L |
| Name | interferon induced protein 44 like |
| Location | 1p31.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | GS3686, TLDC5B |
| Ensembl gene | ENSG00000137959 |
| Ensembl biotype | protein_coding |
| OMIM | 613975 |
| Entrez | 10964 |
Gene structure
Transcript identifiers
Ensembl transcripts: 26 — 17 protein_coding, 6 retained_intron, 2 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined
ENST00000370751, ENST00000450498, ENST00000452835, ENST00000459784, ENST00000462041, ENST00000474002, ENST00000476521, ENST00000476876, ENST00000486882, ENST00000494910, ENST00000679651, ENST00000679848, ENST00000679998, ENST00000680110, ENST00000680295, ENST00000680621, ENST00000681501, ENST00000681613, ENST00000869071, ENST00000869072, ENST00000869073, ENST00000869074, ENST00000971551, ENST00000971552, ENST00000971553, ENST00000971554
RefSeq mRNA: 6 — MANE Select: NM_006820
NM_001375646, NM_001375647, NM_001375648, NM_001375649, NM_001375650, NM_006820
CCDS: CCDS687, CCDS90985
Canonical transcript exons
ENST00000370751 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000932015 | 78627906 | 78628393 |
| ENSE00001453557 | 78620448 | 78620571 |
| ENSE00003467900 | 78641435 | 78641609 |
| ENSE00003478692 | 78628951 | 78628999 |
| ENSE00003529506 | 78635337 | 78635489 |
| ENSE00003628397 | 78629720 | 78629915 |
| ENSE00003645890 | 78641775 | 78646145 |
| ENSE00003651549 | 78641021 | 78641121 |
| ENSE00003662665 | 78637032 | 78637203 |
Expression profiles
Bgee: expression breadth ubiquitous, 265 present calls, max score 94.94.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 22.9343 / max 2025.9813, expressed in 1146 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 3670 | 22.2648 | 1140 |
| 3675 | 0.1963 | 83 |
| 3671 | 0.1441 | 58 |
| 3673 | 0.1423 | 54 |
| 3672 | 0.0951 | 37 |
| 3680 | 0.0916 | 47 |
Top tissues by expression
290 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| monocyte | CL:0000576 | 94.94 | gold quality |
| calcaneal tendon | UBERON:0003701 | 94.81 | gold quality |
| trigeminal ganglion | UBERON:0001675 | 94.69 | gold quality |
| mononuclear cell | CL:0000842 | 94.48 | gold quality |
| leukocyte | CL:0000738 | 94.17 | gold quality |
| pericardium | UBERON:0002407 | 93.82 | gold quality |
| gall bladder | UBERON:0002110 | 91.84 | gold quality |
| dorsal root ganglion | UBERON:0000044 | 90.32 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 89.40 | gold quality |
| penis | UBERON:0000989 | 88.60 | gold quality |
| decidua | UBERON:0002450 | 87.25 | gold quality |
| granulocyte | CL:0000094 | 86.26 | gold quality |
| tendon | UBERON:0000043 | 85.80 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 84.44 | gold quality |
| mucosa of stomach | UBERON:0001199 | 84.38 | gold quality |
| corpus callosum | UBERON:0002336 | 84.35 | gold quality |
| spinal cord | UBERON:0002240 | 84.16 | gold quality |
| synovial joint | UBERON:0002217 | 83.92 | gold quality |
| colonic epithelium | UBERON:0000397 | 83.91 | gold quality |
| lymph node | UBERON:0000029 | 83.83 | gold quality |
| apex of heart | UBERON:0002098 | 83.79 | gold quality |
| spleen | UBERON:0002106 | 83.46 | gold quality |
| vermiform appendix | UBERON:0001154 | 83.06 | gold quality |
| right coronary artery | UBERON:0001625 | 82.50 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 82.22 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 81.74 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 81.73 | gold quality |
| parietal pleura | UBERON:0002400 | 81.58 | gold quality |
| middle frontal gyrus | UBERON:0002702 | 81.07 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 81.05 | gold quality |
Single-cell (SCXA)
Detected in 15 experiment(s), a significant marker in 12.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-11011 | yes | 1229.07 |
| E-GEOD-76312 | yes | 1106.49 |
| E-MTAB-7037 | yes | 1091.52 |
| E-GEOD-93593 | yes | 728.67 |
| E-GEOD-75140 | yes | 635.96 |
| E-MTAB-8559 | yes | 577.51 |
| E-GEOD-149689 | yes | 506.54 |
| E-CURD-95 | yes | 337.84 |
| E-ANND-3 | yes | 14.27 |
| E-HCAD-13 | yes | 12.27 |
| E-MTAB-6701 | yes | 9.26 |
| E-GEOD-137537 | yes | 6.18 |
| E-MTAB-6379 | no | 3279.69 |
| E-MTAB-7052 | no | 902.23 |
| E-CURD-53 | no | 639.35 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
174 targeting IFI44L, 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-4747-5P | 100.00 | 67.90 | 2681 |
| HSA-MIR-5196-5P | 100.00 | 67.98 | 2761 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-4481 | 100.00 | 66.42 | 1669 |
| HSA-MIR-6873-3P | 100.00 | 71.42 | 2626 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-4668-3P | 100.00 | 68.74 | 2635 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-5193 | 100.00 | 67.26 | 1744 |
| HSA-MIR-7110-3P | 100.00 | 73.18 | 2486 |
| HSA-MIR-4500 | 99.99 | 72.72 | 2367 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-3185 | 99.99 | 68.12 | 1959 |
| HSA-MIR-4531 | 99.99 | 69.70 | 3181 |
| HSA-MIR-196A-1-3P | 99.99 | 72.15 | 2772 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-6759-5P | 99.99 | 66.54 | 785 |
| HSA-MIR-19A-3P | 99.98 | 75.33 | 2762 |
| HSA-MIR-19B-3P | 99.98 | 75.44 | 2754 |
| HSA-MIR-8068 | 99.98 | 73.85 | 2376 |
| HSA-LET-7A-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7B-5P | 99.98 | 72.31 | 1790 |
| HSA-LET-7C-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7E-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7F-5P | 99.98 | 72.56 | 1784 |
| HSA-LET-7G-5P | 99.98 | 72.37 | 1784 |
Literature-anchored findings (GeneRIF, showing 20)
- LMKB is the first protein identified to date that interacts with this portion of Ge-1. LMKB was expressed in human B and T lymphocyte cell lines; depletion of LMKB increased expression of IFI44L. (PMID:24755989)
- study reveals common CD46 and IFI44L SNPs associated with measles-specific humoral immunity, and highlights the importance of alternative splicing/virus cellular receptor isoform usage as a mechanism explaining inter-individual variation in immune response after live measles vaccine (PMID:28289848)
- Study demonstrated for the first time that IFI44L is a novel tumor suppressor to affect cancer stemness, metastasis, and drug resistance via regulating Met/Src signaling pathway in hepatocellular carcinoma and can be serve as an important prognostic marker. (PMID:29848298)
- miR-628-5p promotes growth and migration of osteosarcoma by targeting IFI44L. (PMID:31018104)
- A qPCR expression assay of IFI44L gene differentiates viral from bacterial infections in febrile children. (PMID:31409879)
- Associations Between IFI44L Gene Variants and Rates of Respiratory Tract Infections During Early Childhood. (PMID:32561935)
- Interferon-Induced Protein 44 and Interferon-Induced Protein 44-Like Restrict Replication of Respiratory Syncytial Virus. (PMID:32611756)
- IFI44L expression is regulated by IRF-1 and HIV-1. (PMID:33159419)
- Targeted Profiling of Immunological Genes during Norovirus Replication in Human Intestinal Enteroids. (PMID:33494515)
- Integrated weighted gene co-expression network analysis uncovers STAT1(signal transducer and activator of transcription 1) and IFI44L (interferon-induced protein 44-like) as key genes in pulmonary arterial hypertension. (PMID:34516357)
- IFI44L as a Forward Regulator Enhancing Host Antituberculosis Responses. (PMID:34722780)
- Identified Three Interferon Induced Proteins as Novel Biomarkers of Human Ischemic Cardiomyopathy. (PMID:34884921)
- The prognostic and clinical significance of IFI44L aberrant downregulation in patients with oral squamous cell carcinoma. (PMID:34903206)
- Differentially methylation of IFI44L gene promoter in Iranian patients with systemic lupus erythematosus and rheumatoid arthritis. (PMID:35059970)
- Identification of IFI44L as a new candidate molecular marker for systemic lupus erythematosus. (PMID:35349411)
- Epigenetic Regulation of IFI44L Expression in Monocytes Affects the Functions of Monocyte-Derived Dendritic Cells in Systemic Lupus Erythematosus. (PMID:35592687)
- IFI44L as a novel epigenetic silencing tumor suppressor promotes apoptosis through JAK/STAT1 pathway during lung carcinogenesis. (PMID:36584854)
- Reciprocal expression of the immune response genes CXCR3 and IFI44L as module hubs are associated with patient survivals in primary central nervous system lymphoma. (PMID:36607476)
- Novel polymorphism of IFI44L associated with the susceptibility and clinical characteristics of systemic lupus erythematosus in a Chinese population. (PMID:36893516)
- ACSL4 upregulates IFI44 and IFI44L expression and promotes the proliferation and invasiveness of head and neck squamous cell carcinoma cells. (PMID:38989827)
Cross-species orthologs
23 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | si:ch211-197g15.9 | ENSDARG00000002293 |
| danio_rerio | si:ch211-197g15.5 | ENSDARG00000009673 |
| danio_rerio | ENSDARG00000010729 | |
| danio_rerio | ifi44b | ENSDARG00000015678 |
| danio_rerio | ifi44a1 | ENSDARG00000029720 |
| danio_rerio | ifi44e | ENSDARG00000056501 |
| danio_rerio | ifi44c2 | ENSDARG00000060322 |
| danio_rerio | ifi44f4 | ENSDARG00000071355 |
| danio_rerio | ifi44f1 | ENSDARG00000071361 |
| danio_rerio | ifi44a3 | ENSDARG00000075791 |
| danio_rerio | ENSDARG00000089661 | |
| danio_rerio | ifi44a5 | ENSDARG00000092361 |
| ENSDARG00000092634 | ||
| danio_rerio | ifi44c1 | ENSDARG00000092883 |
| danio_rerio | ifi44a8 | ENSDARG00000093857 |
| danio_rerio | ifi44f5 | ENSDARG00000094747 |
| danio_rerio | ifi44f3 | ENSDARG00000094984 |
| danio_rerio | ifi44a7 | ENSDARG00000095309 |
| danio_rerio | ifi44a6 | ENSDARG00000095673 |
| danio_rerio | ENSDARG00000107486 | |
| ENSDARG00000111120 | ||
| mus_musculus | Ifi44l | ENSMUSG00000039146 |
| rattus_norvegicus | Ifi44l | ENSRNOG00000049994 |
Paralogs (1): IFI44 (ENSG00000137965)
Protein
Protein identifiers
Interferon-induced protein 44-like — Q53G44 (reviewed: Q53G44)
All UniProt accessions (6): Q53G44, A0A7P0T9R5, A0A7P0Z4K2, B4E019, C9JPJ0, H7C1K6
UniProt curated annotations — full annotation on UniProt →
Function. Type I interferon-stimulated gene (ISG) that plays a critical role in antiviral and antibacterial activity. During bacterial infection, promotes macrophage differentiation and facilitates inflammatory cytokine secretion. Plays a role in the control of respiratory syncytial virus/RSV infection, reducing the ability of the virus to replicate. Exhibits a low antiviral activity against hepatitis C virus. Also acts as a feedback regulator of IFN responses by negatively regulating IKBKB and IKBKE kinase activities through interaction with FKBP5.
Subunit / interactions. Interacts with FKBP5; this interaction modulates IKBKB and IKBKE kinase activities.
Subcellular location. Cytoplasm.
Induction. By type I interferons. By M.tuberculosis infection.
Similarity. Belongs to the IFI44 family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q53G44-1 | 1 | yes |
| Q53G44-2 | 2 |
RefSeq proteins (6): NP_001362575, NP_001362576, NP_001362577, NP_001362578, NP_001362579, NP_006811* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR006571 | TLDc_dom | Domain |
| IPR027417 | P-loop_NTPase | Homologous_superfamily |
UniProt features (13 total): sequence variant 7, sequence conflict 2, splice variant 2, chain 1, domain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q53G44-F1 | 86.22 | 0.48 |
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-9909505 | Modulation of host responses by IFN-stimulated genes |
MSigDB gene sets: 328 (showing top):
VERHAAK_AML_WITH_NPM1_MUTATED_DN, LEE_SP4_THYMOCYTE, TONKS_TARGETS_OF_RUNX1_RUNX1T1_FUSION_MONOCYTE_UP, WALLACE_PROSTATE_CANCER_RACE_UP, REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, GOZGIT_ESR1_TARGETS_DN, BROWNE_HCMV_INFECTION_12HR_UP, BENNETT_SYSTEMIC_LUPUS_ERYTHEMATOSUS, MISSIAGLIA_REGULATED_BY_METHYLATION_UP, MODULE_171, TAKEDA_TARGETS_OF_NUP98_HOXA9_FUSION_10D_UP, RADAEVA_RESPONSE_TO_IFNA1_UP, DEBIASI_APOPTOSIS_BY_REOVIRUS_INFECTION_UP, GOBP_DEFENSE_RESPONSE_TO_VIRUS, DODD_NASOPHARYNGEAL_CARCINOMA_UP
GO Biological Process (2): immune response (GO:0006955), defense response to virus (GO:0051607)
GO Molecular Function (0):
GO Cellular Component (2): cytosol (GO:0005829), cytoplasm (GO:0005737)
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 |
|---|---|
| cellular anatomical structure | 2 |
| immune system process | 1 |
| response to stimulus | 1 |
| defense response | 1 |
| response to virus | 1 |
| cytoplasm | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
1536 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| IFI44L | RSAD2 | Q8WXG1 | 909 |
| IFI44L | IFI27 | P40305 | 894 |
| IFI44L | IFIT3 | O14879 | 888 |
| IFI44L | IFIT1 | P09914 | 852 |
| IFI44L | IFI6 | P09912 | 848 |
| IFI44L | MX1 | P20591 | 841 |
| IFI44L | ISG15 | P05161 | 840 |
| IFI44L | OAS1 | P00973 | 806 |
| IFI44L | OASL | Q15646 | 800 |
| IFI44L | IFITM3 | Q01628 | 757 |
| IFI44L | SIGLEC1 | Q9BZZ2 | 728 |
| IFI44L | XAF1 | Q6GPH4 | 726 |
| IFI44L | PARP9 | Q8IXQ6 | 723 |
| IFI44L | LY6E | Q16553 | 710 |
| IFI44L | IFI44 | Q8TCB0 | 702 |
IntAct
3 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| IFNA21 | IFIT3 | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (15): IFI44L (Affinity Capture-MS), IFI44L (Affinity Capture-MS), BAG5 (Affinity Capture-MS), CALML5 (Affinity Capture-MS), IGKC (Affinity Capture-MS), LDHA (Affinity Capture-MS), LHX2 (Affinity Capture-MS), LYZ (Affinity Capture-MS), MDH1 (Affinity Capture-MS), PSMA1 (Affinity Capture-MS), RAB3GAP1 (Affinity Capture-MS), IFI44L (Affinity Capture-MS), RALA (Cross-Linking-MS (XL-MS)), RPL18 (Cross-Linking-MS (XL-MS)), RPL21 (Cross-Linking-MS (XL-MS))
ESM2 similar proteins: A0A140LIF8, A0A2P1BRP3, A0A386CAB9, A0JN92, A1A4Y4, O14791, P27473, P59045, P86448, P86449, Q0GUM3, Q13075, Q3B7D9, Q3T9E4, Q3TL54, Q53G44, Q5NCI0, Q5RFJ8, Q60766, Q62293, Q66X01, Q66X03, Q66X05, Q66X22, Q6AYC2, Q6ZSC3, Q7Z745, Q84WJ0, Q86W28, Q8BV66, Q8BVM9, Q8C6J9, Q8CBA2, Q8CCN1, Q8TCB0, Q8TCY9, Q8TD90, Q90597, Q99388, Q99J64
Diamond homologs: P27473, Q53G44, Q8BV66, Q8TCB0, Q9BDB7
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
93 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 66 |
| Likely benign | 7 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1407 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:78620568:ACAGG:A | donor_loss | 1.0000 |
| 1:78620569:CAGGT:C | donor_loss | 1.0000 |
| 1:78620570:AGGTA:A | donor_loss | 1.0000 |
| 1:78620571:GGTAA:G | donor_loss | 1.0000 |
| 1:78620572:G:C | donor_loss | 1.0000 |
| 1:78628058:G:GT | donor_gain | 1.0000 |
| 1:78628058:G:T | donor_gain | 1.0000 |
| 1:78628996:GAGA:G | donor_gain | 1.0000 |
| 1:78628998:GA:G | donor_gain | 1.0000 |
| 1:78629000:G:GG | donor_gain | 1.0000 |
| 1:78635335:A:AG | acceptor_gain | 1.0000 |
| 1:78635336:G:GG | acceptor_gain | 1.0000 |
| 1:78637031:GTTTA:G | acceptor_gain | 1.0000 |
| 1:78620573:T:G | donor_loss | 0.9900 |
| 1:78620876:T:TA | acceptor_gain | 0.9900 |
| 1:78620892:T:A | acceptor_gain | 0.9900 |
| 1:78635336:GTATA:G | acceptor_gain | 0.9900 |
| 1:78635468:T:TA | donor_gain | 0.9900 |
| 1:78635485:ATCAG:A | donor_loss | 0.9900 |
| 1:78635486:TCAG:T | donor_loss | 0.9900 |
| 1:78635487:CAG:C | donor_loss | 0.9900 |
| 1:78635488:AG:A | donor_loss | 0.9900 |
| 1:78635489:GGT:G | donor_loss | 0.9900 |
| 1:78635490:G:GT | donor_loss | 0.9900 |
| 1:78635491:T:TC | donor_loss | 0.9900 |
| 1:78637030:A:AG | acceptor_gain | 0.9900 |
| 1:78637031:G:GG | acceptor_gain | 0.9900 |
| 1:78641092:A:G | donor_gain | 0.9900 |
| 1:78641603:G:GT | donor_gain | 0.9900 |
| 1:78641604:A:T | donor_gain | 0.9900 |
AlphaMissense
3012 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:78628381:T:C | F156L | 0.960 |
| 1:78628383:T:A | F156L | 0.960 |
| 1:78628383:T:G | F156L | 0.960 |
| 1:78629821:A:C | K210T | 0.933 |
| 1:78629853:T:C | F221L | 0.930 |
| 1:78629855:T:A | F221L | 0.930 |
| 1:78629855:T:G | F221L | 0.930 |
| 1:78629826:A:C | S212R | 0.927 |
| 1:78629828:T:A | S212R | 0.927 |
| 1:78629828:T:G | S212R | 0.927 |
| 1:78629821:A:T | K210M | 0.916 |
| 1:78629838:T:C | S216P | 0.914 |
| 1:78628002:G:C | K29N | 0.913 |
| 1:78628002:G:T | K29N | 0.913 |
| 1:78628385:G:C | R157P | 0.912 |
| 1:78629822:G:C | K210N | 0.910 |
| 1:78629822:G:T | K210N | 0.910 |
| 1:78628377:A:C | E154D | 0.908 |
| 1:78628377:A:T | E154D | 0.908 |
| 1:78628382:T:C | F156S | 0.903 |
| 1:78629842:T:A | V217D | 0.901 |
| 1:78629847:T:C | S219P | 0.901 |
| 1:78641528:G:C | D415H | 0.901 |
| 1:78629829:T:C | F213L | 0.890 |
| 1:78629831:T:A | F213L | 0.890 |
| 1:78629831:T:G | F213L | 0.890 |
| 1:78641494:T:A | N403K | 0.890 |
| 1:78641494:T:G | N403K | 0.890 |
| 1:78628045:T:C | C44R | 0.879 |
| 1:78628067:T:A | I51K | 0.879 |
dbSNP variants (sampled 300 via entrez): RS1000018323 (1:78623571 G>A,C), RS1000232270 (1:78633904 A>C,G), RS1000407360 (1:78622319 C>T), RS1000476201 (1:78639857 TGCC>T), RS1000484208 (1:78623368 C>T), RS1000529006 (1:78619136 A>T), RS1000836554 (1:78642090 A>C,T), RS1000926388 (1:78644619 G>T), RS1001043317 (1:78638802 A>G,T), RS1001048343 (1:78636149 C>T), RS1001096040 (1:78632383 G>C), RS1001115639 (1:78642294 A>C,G), RS1001234829 (1:78632633 A>T), RS1001376065 (1:78621188 T>C), RS1001408597 (1:78620816 C>T)
Disease associations
OMIM: gene MIM:613975 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
8 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001877_50 | Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined) | 1.000000e-06 |
| GCST002295_4 | Schizophrenia or bipolar disorder | 8.000000e-09 |
| GCST002672_5 | Febrile seizures | 1.000000e-09 |
| GCST002674_1 | Febrile seizures (MMR vaccine-related) | 6.000000e-12 |
| GCST004269_1 | Immune response to measles vaccine (measles-specific neutralising antibody titre) | 1.000000e-10 |
| GCST004269_5 | Immune response to measles vaccine (measles-specific neutralising antibody titre) | 2.000000e-08 |
| GCST006284_18 | Plasma proprotein convertase subtilisin/kexin type 9 levels in stable coronary artery disease | 6.000000e-07 |
| GCST008660_1 | Lung function in never smokers (high FEV1 vs average FEV1) | 3.000000e-07 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0006519 | MMR-related febrile seizures |
| EFO:0004645 | response to vaccine |
| EFO:0006899 | PCSK9 protein measurement |
| EFO:0004314 | forced expiratory volume |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
84 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Estradiol | affects cotreatment, increases expression, decreases expression | 5 |
| sodium arsenite | affects expression, decreases expression, increases expression | 4 |
| (+)-JQ1 compound | decreases expression, increases expression | 3 |
| Air Pollutants | increases abundance, decreases expression | 3 |
| Benzo(a)pyrene | decreases expression, decreases methylation, increases expression, increases methylation | 3 |
| Cadmium Chloride | decreases expression, increases abundance | 3 |
| monomethylarsonous acid | decreases expression | 2 |
| Nickel | increases expression | 2 |
| Tobacco Smoke Pollution | affects expression, decreases expression | 2 |
| Valproic Acid | affects cotreatment, increases expression | 2 |
| Particulate Matter | decreases expression, decreases reaction, increases abundance | 2 |
| aristolochic acid I | decreases expression | 1 |
| testosterone enanthate | affects expression | 1 |
| bisphenol A | decreases expression | 1 |
| cinnamaldehyde | decreases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| nickel chloride | increases expression | 1 |
| 3,4,5,3’,4’-pentachlorobiphenyl | decreases expression | 1 |
| chloroquine diphosphate | decreases expression | 1 |
| 2,3-bis(3’-hydroxybenzyl)butyrolactone | affects cotreatment, decreases expression | 1 |
| cupric chloride | decreases expression | 1 |
| hydroquinone | decreases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | increases expression, decreases reaction | 1 |
| diallyl trisulfide | decreases expression | 1 |
| monomethylpropion | affects expression | 1 |
| gadodiamide | increases expression | 1 |
| azoxystrobin | increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| deguelin | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
Cellosaurus cell lines
3 cell lines: 3 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B1FS | Abcam A-549 IFI44L KO 1 | Cancer cell line | Male |
| CVCL_B2NB | Abcam A-549 IFI44L KO 2 | Cancer cell line | Male |
| CVCL_XP72 | HAP1 IFI44L (-) | 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.