IFITM2

Summary

IFITM2 (interferon induced transmembrane protein 2, HGNC:5413) is a protein-coding gene on chromosome 11p15.5, encoding Interferon-induced transmembrane protein 2 (Q01629). IFN-induced antiviral protein which inhibits the entry of viruses to the host cell cytoplasm, permitting endocytosis, but preventing subsequent viral fusion and release of viral contents into the cytosol. It is a selective cancer dependency (DepMap: 42.3% of cell lines).

Interferon-induced transmembrane (IFITM) proteins are a family of interferon induced antiviral proteins. The family contains five members, including IFITM1, IFITM2 and IFITM3 and belong to the CD225 superfamily. The protein encoded by this gene restricts cellular entry by diverse viral pathogens, such as influenza A virus, Ebola virus and Sars-CoV-2.

Source: NCBI Gene 10581 — RefSeq curated summary.

At a glance

• GWAS associations: 38
• Clinical variants (ClinVar): 33 total
• Cancer dependency (DepMap): dependent in 42.3% of screened cell lines
• MANE Select transcript: NM_006435

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:5413
Approved symbol	IFITM2
Name	interferon induced transmembrane protein 2
Location	11p15.5
Locus type	gene with protein product
Status	Approved
Aliases	1-8D, DSPA2c
Ensembl gene	ENSG00000185201
Ensembl biotype	protein_coding
OMIM	605578
Entrez	10581

Gene structure

Transcript identifiers

Ensembl transcripts: 23 — 15 protein_coding, 6 protein_coding_CDS_not_defined, 2 nonsense_mediated_decay

ENST00000399817, ENST00000527146, ENST00000533141, ENST00000602569, ENST00000616316, ENST00000679383, ENST00000679636, ENST00000679962, ENST00000680011, ENST00000680081, ENST00000680099, ENST00000680197, ENST00000680261, ENST00000680344, ENST00000680585, ENST00000680619, ENST00000680869, ENST00000681211, ENST00000681276, ENST00000681810, ENST00000681833, ENST00000681900, ENST00000681914

RefSeq mRNA: 1 — MANE Select: NM_006435 NM_006435

CCDS: CCDS41583

Canonical transcript exons

ENST00000616316 — 2 exons

Exon	Start	End
ENSE00002159269	309013	309395
ENSE00003728659	307816	308438

Expression profiles

Bgee: expression breadth ubiquitous, 291 present calls, max score 99.83.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 469.5766 / max 44476.6621, expressed in 1769 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
112171	357.4605	1745
112170	86.6456	1752
112172	21.0873	1531
112173	3.6791	1198
112174	0.5079	228
112169	0.1962	85

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
blood	UBERON:0000178	99.83	gold quality
right lung	UBERON:0002167	99.77	gold quality
pericardium	UBERON:0002407	99.76	gold quality
periodontal ligament	UBERON:0008266	99.72	gold quality
spleen	UBERON:0002106	99.68	gold quality
upper lobe of left lung	UBERON:0008952	99.68	gold quality
left uterine tube	UBERON:0001303	99.66	gold quality
upper lobe of lung	UBERON:0008948	99.66	gold quality
peritoneum	UBERON:0002358	99.63	gold quality
omental fat pad	UBERON:0010414	99.63	gold quality
descending thoracic aorta	UBERON:0002345	99.62	gold quality
granulocyte	CL:0000094	99.60	gold quality
endocervix	UBERON:0000458	99.60	gold quality
olfactory bulb	UBERON:0002264	99.60	gold quality
adipose tissue of abdominal region	UBERON:0007808	99.59	gold quality
coronary artery	UBERON:0001621	99.57	gold quality
right coronary artery	UBERON:0001625	99.57	gold quality
left coronary artery	UBERON:0001626	99.57	gold quality
thoracic aorta	UBERON:0001515	99.54	gold quality
metanephros cortex	UBERON:0010533	99.54	gold quality
ascending aorta	UBERON:0001496	99.53	gold quality
body of uterus	UBERON:0009853	99.52	gold quality
tibial nerve	UBERON:0001323	99.51	gold quality
right ovary	UBERON:0002118	99.51	gold quality
left ovary	UBERON:0002119	99.50	gold quality
apex of heart	UBERON:0002098	99.49	gold quality
right lobe of thyroid gland	UBERON:0001119	99.48	gold quality
right uterine tube	UBERON:0001302	99.46	gold quality
myometrium	UBERON:0001296	99.41	gold quality
right lobe of liver	UBERON:0001114	99.38	gold quality

Single-cell (SCXA)

Detected in 52 experiment(s), a significant marker in 42.

Experiment	Marker?	Max mean expression
E-MTAB-9221	yes	13370.93
E-GEOD-149689	yes	11974.91
E-HCAD-32	yes	4604.16
E-GEOD-150728	yes	3755.34
E-HCAD-13	yes	3660.02
E-MTAB-10042	yes	3195.77
E-MTAB-6701	yes	3039.34
E-HCAD-24	yes	2563.50
E-CURD-122	yes	2495.01
E-CURD-88	yes	2275.22
E-CURD-77	yes	1833.79
E-MTAB-9154	yes	1358.80
E-MTAB-9467	yes	1230.95
E-MTAB-8495	yes	1119.41
E-CURD-114	yes	893.39

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): SIN3A, WT1

miRNA regulators (miRDB)

15 targeting IFITM2, 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-6077	99.99	68.04	2299
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-MIR-221-5P	99.86	65.45	1052
HSA-MIR-8073	99.86	65.21	1118
HSA-MIR-12122	99.56	69.33	1672
HSA-MIR-12117	99.50	67.57	868
HSA-MIR-6878-3P	99.24	64.23	920
HSA-MIR-1286	99.09	66.23	1046
HSA-MIR-6880-5P	98.08	65.59	1282
HSA-MIR-4446-3P	97.91	64.29	991
HSA-MIR-3674	97.01	68.86	1171
HSA-MIR-4654	95.86	65.72	751
HSA-MIR-4769-5P	95.37	66.09	570
HSA-MIR-3679-5P	94.75	66.46	862
HSA-MIR-1185-5P	94.47	65.95	725

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 42.3% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 28)

• Single Nucleotide Polymorphisms in 1-8D is associated with neoplasms. (PMID:19544527)
• IFITM2 and IFITM3, disrupted early steps (entry and/or uncoating) of the viral infection, viperin, ISG20, and double-stranded-RNA-activated protein kinase, inhibited steps in west nile virus and dengue virus viral proteins and/or RNA biosynthesis. (PMID:20534863)
• IFITM1, IFITM2, and IFITM3 inhibit HIV-1 replication through interfering with virus entry. (PMID:21177806)
• Although their inhibitory activities were modest when compared to that of tetherin, IFITMs, but not tetherin, directly reduced the expression of HIV-1 proteins including Gag, Vif and Nef. (PMID:23376165)
• Authors show that interferon-induced transmembrane protein 1 (IFITM-1), IFITM-2, and IFITM-3 exhibit a broad spectrum of antiviral activity against several members of the Bunyaviridae family. (PMID:23720721)
• G3BP1, G3BP2 and CAPRIN1 are required for translation of interferon stimulated mRNAs and are targeted by a dengue virus non-coding RNA. (PMID:24992036)
• In virus-producing cells, IFITMs coalesce with forming virions and are incorporated into HIV-1 viral particles. (PMID:25422070)
• Incorporation of IFITM1, IFITM2 and IFITM3 into HIV-1 virions impair viral fusion and spread. (PMID:25464829)
• Host IFITM3,IFITM2 and IFITM1 facilitate morphogenesis of the human cytomegalovirus assembly. (PMID:25552713)
• propose that the IFITM proteins act in a coordinated manner to restrict HCV infection by targeting the endocytosed HCV virion for lysosomal degradation and demonstrate that the actions of the IFITM proteins are indeed virus and cell-type specific (PMID:26354436)
• IFITM2 and IFITM3 specifically antagonize the HIV-1 envelope glycoprotein (Env), thereby inhibiting viral infection. (PMID:26387945)
• These results indicate that IFITM2 protein can restrict alphavirus infection by inhibiting viral fusion with cellular membranes. (PMID:27219333)
• IFITM2 promotes gastric cancer growth and metastasis via IGF1/IGF1R/STAT3 signaling pathway. (PMID:28223169)
• findings show that the sensitivity of influenza A viruses to the IFN-induced antiviral state and IFITM2 and IFITM3 proteins depends on the pH value at which the viral HA undergoes a conformational transition and mediates membrane fusion (PMID:28356532)
• The transcriptional regulation of IFITM1, 2 and 3 expression. (PMID:28511927)
• Delta20 IFITM2 may serve as a major contributor to the gatekeeping mechanism that explains restriction of X4 viruses in the early stage of HIV-1 infection (PMID:28630320)
• overexpression of IFITM1, 2 and 3 suppressed entry of CXCR4 and CCR5 tropic viruses; entry of transmitted founder HIV-1 in U87 cells is more sensitive to inhibition by IFITM2 and IFITM3 than by IFITM1 (PMID:30087232)
• These studies identify a novel role for IFITM1, 2, and 3 in inhibiting HIV replication at the level of translation. (PMID:30266929)
• IFITM2 knockdowns in BeWo trophoblasts increased their spontaneous fusion and allowed fusion in the presence of IFN while also making the cells more susceptible to virus infection. (PMID:31735710)
• IFITM1-IFITM3 are expressed by T cells and are directly involved in adaptive immunity; they regulate CD4+ T helper cell differentiation in a T-cell-intrinsic manner. (Review) (PMID:31792954)
• Opposing activities of IFITM proteins in SARS-CoV-2 infection. (PMID:33270927)
• Predicative value of IFITM2 in renal clear cell carcinoma: IFITM2 is associated with lymphatic metastasis and poor clinical outcome. (PMID:33308825)
• IFITM Proteins That Restrict the Early Stages of Respiratory Virus Infection Do Not Influence Late-Stage Replication. (PMID:34319159)
• IFITM proteins promote SARS-CoV-2 infection and are targets for virus inhibition in vitro. (PMID:34321474)
• Interferon-Induced Transmembrane Proteins Inhibit Infection by the Kaposi’s Sarcoma-Associated Herpesvirus and the Related Rhesus Monkey Rhadinovirus in a Cell-Specific Manner. (PMID:34933450)
• SARS-CoV-2 Variants of Concern Hijack IFITM2 for Efficient Replication in Human Lung Cells. (PMID:35543509)
• IFITM2 Presents Antiviral Response through Enhancing Type I IFN Signaling Pathway. (PMID:37112847)
• Unveiling the immunoregulatory role of interferon-induced transmembrane protein 2 through the JAK/STAT3/PDL1 pathway in gastric cancer. (PMID:39321709)

Cross-species orthologs

7 orthologs

Organism	Symbol	Gene ID
mus_musculus	Ifitm1	ENSMUSG00000025491
mus_musculus	Ifitm3	ENSMUSG00000025492
mus_musculus	Ifitm2	ENSMUSG00000060591
mus_musculus	Ifitm7	ENSMUSG00000065968
rattus_norvegicus	Ifitm1	ENSRNOG00000004273
rattus_norvegicus	Ifitm3-ps2	ENSRNOG00000021674
rattus_norvegicus		ENSRNOG00000080209

Paralogs (5): IFITM3 (ENSG00000142089), IFITM1 (ENSG00000185885), IFITM5 (ENSG00000206013), IFITM10 (ENSG00000244242), (ENSG00000300510)

Protein

Protein identifiers

Interferon-induced transmembrane protein 2 — Q01629 (reviewed: Q01629)

Alternative names: Dispanin subfamily A member 2c, Interferon-inducible protein 1-8D

All UniProt accessions (11): A0A7P0T856, A0A7P0T953, A0A7P0T9Q3, A0A7P0TA08, A0A7P0TAK5, A0A7P0TB81, A0A804CKL3, E9PQN9, Q01629, H0YCL2, R4GNC9

UniProt curated annotations — full annotation on UniProt →

Function. IFN-induced antiviral protein which inhibits the entry of viruses to the host cell cytoplasm, permitting endocytosis, but preventing subsequent viral fusion and release of viral contents into the cytosol. Active against multiple viruses, including influenza A virus, SARS coronaviruses (SARS-CoV and SARS-CoV-2), Marburg virus (MARV), Ebola virus (EBOV), Dengue virus (DNV), West Nile virus (WNV), human immunodeficiency virus type 1 (HIV-1), hepatitis C virus (HCV) and vesicular stomatitis virus (VSV). Can inhibit: influenza virus hemagglutinin protein-mediated viral entry, MARV and EBOV GP1,2-mediated viral entry, SARS-CoV and SARS-CoV-2 S protein-mediated viral entry and VSV G protein-mediated viral entry. Induces cell cycle arrest and mediates apoptosis by caspase activation and in p53-independent manner. In hepatocytes, IFITM proteins act in a coordinated manner to restrict HCV infection by targeting the endocytosed HCV virion for lysosomal degradation. IFITM2 and IFITM3 display anti-HCV activity that may complement the anti-HCV activity of IFITM1 by inhibiting the late stages of HCV entry, possibly in a coordinated manner by trapping the virion in the endosomal pathway and targeting it for degradation at the lysosome.

Subunit / interactions. Interacts with CD81.

Subcellular location. Cell membrane. Lysosome membrane. Late endosome membrane.

Post-translational modifications. Palmitoylation on membrane-proximal cysteines controls clustering in membrane compartments and antiviral activity. Phosphorylation at Tyr-19 is required for endosomal and lysosomal location.

Induction. By IFN-alpha, IFNB1/IFN-beta and IFNG/IFN-gamma. Down-regulated by p53/TP53.

Similarity. Belongs to the CD225/Dispanin family.

RefSeq proteins (1): NP_006426* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR007593	CD225/Dispanin_fam	Family
IPR051517	IFITM_antiviral_protein	Family

Pfam: PF04505

UniProt features (18 total): topological domain 3, lipid moiety-binding region 3, sequence variant 3, mutagenesis site 3, modified residue 2, chain 1, sequence conflict 1, intramembrane region 1, transmembrane region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q01629-F1	61.71	0.03

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 (5): 104, 1, 19, 70, 71

Mutagenesis-validated functional residues (3):

Position	Phenotype
19	loss of phosphorylation. accumulates at the plasma membrane. increases infection with influenza a virus and sars-cov-2.
70–71	no effect on anti-hcv activity. partial loss of endosomal location.
104	loss of anti-hcv activity. partial loss of endosomal location.

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-909733	Interferon alpha/beta signaling

MSigDB gene sets: 360 (showing top): GSE45365_NK_CELL_VS_CD8A_DC_UP, WALLACE_PROSTATE_CANCER_RACE_UP, REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, GOBP_RESPONSE_TO_PEPTIDE, GOCC_VACUOLAR_MEMBRANE, GOBP_NEGATIVE_REGULATION_OF_VIRAL_PROCESS, GOBP_RESPONSE_TO_TYPE_I_INTERFERON, DACOSTA_UV_RESPONSE_VIA_ERCC3_UP, MODULE_128, GOBP_MODULATION_OF_PROCESS_OF_ANOTHER_ORGANISM, SARRIO_EPITHELIAL_MESENCHYMAL_TRANSITION_DN, GOBP_RESPONSE_TO_INTERFERON_BETA, GOBP_RESPONSE_TO_INTERFERON_ALPHA, BROWNE_HCMV_INFECTION_48HR_DN, MODULE_75

GO Biological Process (12): immune response (GO:0006955), response to virus (GO:0009615), response to type II interferon (GO:0034341), response to interferon-alpha (GO:0035455), response to interferon-beta (GO:0035456), cellular response to interferon-beta (GO:0035458), negative regulation of viral genome replication (GO:0045071), host-mediated suppression of symbiont invasion (GO:0046597), defense response to virus (GO:0051607), type I interferon-mediated signaling pathway (GO:0060337), immune system process (GO:0002376), innate immune response (GO:0045087)

GO Molecular Function (0):

GO Cellular Component (9): lysosomal membrane (GO:0005765), plasma membrane (GO:0005886), late endosome membrane (GO:0031902), protein-containing complex (GO:0032991), nucleoplasm (GO:0005654), lysosome (GO:0005764), endosome (GO:0005768), membrane (GO:0016020), cell junction (GO:0030054)

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
response to cytokine	3
cellular anatomical structure	3
innate immune response	2
immune system process	1
response to stimulus	1
response to other organism	1
response to interferon-beta	1
cellular response to cytokine stimulus	1
viral genome replication	1
regulation of viral genome replication	1
negative regulation of viral process	1
host-mediated perturbation of symbiont process	1
defense response	1
response to virus	1
cellular response to type I interferon	1
interferon-mediated signaling pathway	1
biological_process	1
immune response	1
defense response to symbiont	1
lysosome	1
lytic vacuole membrane	1
membrane	1
cell periphery	1
late endosome	1
endosome membrane	1
cellular_component	1
nuclear lumen	1
lytic vacuole	1
endomembrane system	1
cytoplasmic vesicle	1

Protein interactions and networks

STRING

754 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
IFITM2	IFNB1	P01574	679
IFITM2	IFIT3	O14879	673
IFITM2	IFIT2	P09913	657
IFITM2	IFNA2	P01563	604
IFITM2	IFI6	P09912	581
IFITM2	ISG15	P05161	571
IFITM2	IFIT1	P09914	570
IFITM2	IFNA17	P01571	567
IFITM2	MX1	P20591	543
IFITM2	RSAD2	Q8WXG1	541
IFITM2	IFNG	P01579	540
IFITM2	ISG20	Q96AZ6	527
IFITM2	OAS1	P00973	507
IFITM2	BST2	Q10589	505
IFITM2	JAK1	P23458	499

IntAct

9 interactions, top by confidence:

A	B	Type	Score
GPC1	GANAB	psi-mi:“MI:0915”(physical association)	0.400
SLC35F1	C15orf61	psi-mi:“MI:0914”(association)	0.350
IFITM2		psi-mi:“MI:0915”(physical association)	0.000
IFITM2	yapA	psi-mi:“MI:0915”(physical association)	0.000
	IFITM2	psi-mi:“MI:0915”(physical association)	0.000
IFITM2	UPF3A	psi-mi:“MI:0915”(physical association)	0.000
PTCD3	IFITM2	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (15): IFITM2 (Two-hybrid), KRTAP1-1 (Two-hybrid), IFITM2 (Two-hybrid), IFITM2 (Negative Genetic), IFITM2 (Affinity Capture-RNA), IFITM2 (Two-hybrid), IFITM2 (Co-localization), IFITM2 (Affinity Capture-Western), IFITM2 (Proximity Label-MS), IFITM2 (Affinity Capture-MS), IFITM2 (Co-fractionation), IFITM2 (Co-fractionation), IFITM2 (Affinity Capture-MS), IFITM2 (Affinity Capture-RNA), IFITM2 (Affinity Capture-MS)

ESM2 similar proteins: A0A087WTH1, A0A125YWU9, A0PK84, A6PVL3, C9JQL5, F1QHM7, F1QX91, O15503, O41933, O70418, O88728, P0DI73, P13164, P26376, Q01628, Q01629, Q08755, Q0II74, Q21642, Q32L65, Q3UNB8, Q3YBM2, Q5FVR1, Q5FWL7, Q5I0I2, Q5R8D6, Q5RF75, Q5Y5T3, Q6DHI1, Q76IC6, Q7M734, Q7TQJ1, Q8BGI3, Q8CES1, Q8CFA6, Q8IYP9, Q8N6L7, Q8WVZ1, Q91WU6, Q921C1

Diamond homologs: A6NMD0, A6NNB3, C9JQL5, O88728, P13164, P26376, Q01628, Q01629, Q8BR26, Q91499, Q99J93, Q9CQW9, Q9D103, D3ZFB6, E9PUL5, Q2MHH0, Q5RAC1, Q6DFT4, Q7Z6L0, Q8C838

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	28
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

221 predictions. Top by Δscore:

Variant	Effect	Δscore
11:308439:GTGC:G	donor_loss	1.0000
11:308440:T:G	donor_loss	1.0000
11:308439:G:GG	donor_gain	0.9900
11:309008:CCCAG:C	acceptor_loss	0.9900
11:309010:CA:C	acceptor_loss	0.9900
11:309011:A:AG	acceptor_gain	0.9900
11:309012:G:GA	acceptor_gain	0.9900
11:308435:GAAG:G	donor_gain	0.9800
11:309012:GT:G	acceptor_gain	0.9800
11:309012:GTCTA:G	acceptor_gain	0.9800
11:309012:GTC:G	acceptor_gain	0.9700
11:309012:GTCT:G	acceptor_gain	0.9700
11:308271:G:GT	donor_gain	0.9600
11:309017:GGGA:G	acceptor_gain	0.9300
11:308437:AG:A	donor_gain	0.9200
11:308438:GG:G	donor_gain	0.9200
11:308434:TGAAG:T	donor_gain	0.8900
11:308435:GAAGG:G	donor_gain	0.8900
11:309016:AG:A	acceptor_gain	0.8500
11:309017:GG:G	acceptor_gain	0.8500
11:309016:A:AG	acceptor_gain	0.8400
11:309016:AGG:A	acceptor_gain	0.8400
11:309017:G:GG	acceptor_gain	0.8400
11:309017:GGG:G	acceptor_gain	0.8400
11:308436:AAGG:A	donor_gain	0.8300
11:308437:AGGT:A	donor_gain	0.8300
11:308438:GGT:G	donor_gain	0.8300
11:308439:G:A	donor_gain	0.8300
11:308440:TGCG:T	donor_gain	0.8300
11:308442:CGTA:C	donor_gain	0.8300

AlphaMissense

873 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:308438:G:C	K82N	0.974
11:308438:G:T	K82N	0.974
11:308381:C:A	N63K	0.972
11:308381:C:G	N63K	0.972
11:308367:T:A	W59R	0.970
11:308367:T:C	W59R	0.970
11:309084:C:A	N106K	0.970
11:309084:C:G	N106K	0.970
11:309018:G:C	R84S	0.969
11:309018:G:T	R84S	0.969
11:308409:G:C	G73R	0.960
11:308396:C:A	N68K	0.956
11:308396:C:G	N68K	0.956
11:309070:G:C	A102P	0.954
11:309027:G:C	K87N	0.953
11:309027:G:T	K87N	0.953
11:308388:T:C	F66L	0.950
11:308390:C:A	F66L	0.950
11:308390:C:G	F66L	0.950
11:309071:C:A	A102D	0.950
11:308419:C:A	A76E	0.949
11:309020:A:C	D85A	0.947
11:309019:G:C	D85H	0.944
11:309017:G:T	R84M	0.939
11:308410:G:A	G73D	0.936
11:309017:G:C	R84T	0.934
11:308403:T:C	C71R	0.932
11:309020:A:T	D85V	0.928
11:309061:G:C	A99P	0.927
11:308431:C:T	S80F	0.926

dbSNP variants (sampled 300 via entrez): RS1000384658 (11:309486 G>A,T), RS1000437124 (11:309660 A>G), RS1001208977 (11:305947 C>A,T), RS1003180658 (11:306087 A>G), RS1004493042 (11:307373 G>A), RS1004642244 (11:307646 C>A,T), RS1005698430 (11:306527 T>G), RS1005756815 (11:306314 C>T), RS1006518808 (11:305953 C>G,T), RS1007027999 (11:308932 G>A), RS1007658973 (11:306833 G>A), RS1008030396 (11:307683 G>C), RS1008081284 (11:307862 C>T), RS1009089252 (11:306890 C>T), RS1010186461 (11:307958 G>A)

Disease associations

OMIM: gene MIM:605578 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

38 associations (top):

Study	Trait	p-value
GCST004603_56	Platelet count	6.000000e-12
GCST004606_202	Eosinophil count	8.000000e-19
GCST004608_166	Granulocyte percentage of myeloid white cells	4.000000e-52
GCST004608_167	Granulocyte percentage of myeloid white cells	5.000000e-40
GCST004609_20	Monocyte percentage of white cells	7.000000e-44
GCST004609_21	Monocyte percentage of white cells	9.000000e-37
GCST004610_117	White blood cell count	1.000000e-36
GCST004613_24	Sum neutrophil eosinophil counts	6.000000e-48
GCST004614_41	Granulocyte count	8.000000e-48
GCST004618_16	White blood cell count (basophil)	7.000000e-11
GCST004620_122	Sum basophil neutrophil counts	5.000000e-44
GCST004624_187	Sum eosinophil basophil counts	3.000000e-20
GCST004625_110	Monocyte count	2.000000e-09
GCST004626_82	Myeloid white cell count	7.000000e-42
GCST004629_93	Neutrophil count	6.000000e-44
GCST004632_75	Lymphocyte percentage of white cells	1.000000e-18
GCST004633_92	Neutrophil percentage of white cells	3.000000e-25
GCST007932_111	Medication use (thyroid preparations)	8.000000e-09
GCST010571_51	Autoimmune thyroid disease	9.000000e-09
GCST011365_141	Myocardial infarction	7.000000e-06
GCST90002379_86	Basophil count	2.000000e-14
GCST90002381_290	Eosinophil count	3.000000e-63
GCST90002382_199	Eosinophil percentage of white cells	6.000000e-11
GCST90002382_375	Eosinophil percentage of white cells	1.000000e-36
GCST90002389_458	Lymphocyte percentage of white cells	6.000000e-38
GCST90002393_344	Monocyte count	3.000000e-27
GCST90002394_460	Monocyte percentage of white cells	4.000000e-56
GCST90002394_461	Monocyte percentage of white cells	1.000000e-30
GCST90002395_44	Mean platelet volume	4.000000e-15
GCST90002398_189	Neutrophil count	4.000000e-16

EFO canonical traits (15, from GWAS)

EFO ID	Trait name
EFO:0004309	platelet count
EFO:0004842	eosinophil count
EFO:0007997	granulocyte percentage of myeloid white cells
EFO:0007989	monocyte percentage of leukocytes
EFO:0004833	neutrophil count
EFO:0007987	granulocyte count
EFO:0005090	basophil count
EFO:0005091	monocyte count
EFO:0007993	lymphocyte percentage of leukocytes
EFO:0007990	neutrophil percentage of leukocytes
EFO:0009933	Thyroid preparation use measurement
EFO:0007991	eosinophil percentage of leukocytes
EFO:0007985	platelet crit
EFO:0004305	erythrocyte count
EFO:0004533	alkaline phosphatase measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Air Pollutants	affects cotreatment, increases abundance, increases oxidation, decreases expression	5
sodium arsenite	affects acetylation, affects methylation, decreases expression, increases expression	4
Valproic Acid	decreases expression, affects cotreatment, increases expression	4
(+)-JQ1 compound	decreases expression	3
bisphenol A	decreases expression, affects cotreatment, increases expression	2
Acetaminophen	decreases expression	2
Nickel	increases expression	2
Ozone	affects cotreatment, increases oxidation, increases abundance, increases expression	2
Tobacco Smoke Pollution	decreases expression	2
Cyclosporine	decreases expression	2
Particulate Matter	increases abundance, decreases expression	2
GSK-J4	decreases expression	1
bisphenol F	affects cotreatment, increases expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	increases abundance, affects cotreatment, increases oxidation	1
pirinixic acid	affects binding, decreases expression, increases activity	1
lead acetate	decreases expression	1
mancozeb	decreases expression	1
methylparaben	decreases expression	1
sulforaphane	decreases expression	1
cobaltous chloride	decreases expression	1
tetrathiomolybdate	increases expression	1
cupric chloride	decreases expression	1
methacrylaldehyde	affects cotreatment, increases oxidation, increases abundance	1
di-n-butylphosphoric acid	affects expression	1
seocalcitol	decreases expression	1
azoxystrobin	decreases expression	1
chloropicrin	increases expression	1
perfluoro-n-nonanoic acid	decreases expression	1
deguelin	decreases expression	1

Cellosaurus cell lines

6 cell lines: 6 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B0A4	HeLa IFITM1/2/3-KO	Cancer cell line	Female
CVCL_B0A5	HeLa IFITM2/3-KO	Cancer cell line	Female
CVCL_B0A6	A549 IFITM2/3-KO	Cancer cell line	Male
CVCL_SS19	HAP1 IFITM2 (-) 1	Cancer cell line	Male
CVCL_SS20	HAP1 IFITM2 (-) 2	Cancer cell line	Male
CVCL_UZ56	Huh7 IFITM2-/-	Cancer cell line	Male

Clinical trials (associated diseases)

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