IFITM1

Summary

IFITM1 (interferon induced transmembrane protein 1, HGNC:5412) is a protein-coding gene on chromosome 11p15.5, encoding Interferon-induced transmembrane protein 1 (P13164). 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.

Interferon-induced transmembrane (IFITM) proteins are a family of interferon induced antiviral proteins. The family contains five members, including IFITM1, IFITM2 and IFITM3 that 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 8519 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 13 total — 1 pathogenic
• MANE Select transcript: NM_003641

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:5412
Approved symbol	IFITM1
Name	interferon induced transmembrane protein 1
Location	11p15.5
Locus type	gene with protein product
Status	Approved
Aliases	9-27, CD225, DSPA2a
Ensembl gene	ENSG00000185885
Ensembl biotype	protein_coding
OMIM	604456
Entrez	8519

Gene structure

Transcript identifiers

Ensembl transcripts: 34 — 29 protein_coding, 3 protein_coding_CDS_not_defined, 2 nonsense_mediated_decay

ENST00000328221, ENST00000408968, ENST00000525554, ENST00000528780, ENST00000679353, ENST00000679380, ENST00000679765, ENST00000679982, ENST00000680299, ENST00000680310, ENST00000680342, ENST00000680588, ENST00000680611, ENST00000680696, ENST00000680699, ENST00000680802, ENST00000680855, ENST00000680870, ENST00000680938, ENST00000681111, ENST00000681180, ENST00000681293, ENST00000681350, ENST00000681426, ENST00000681577, ENST00000681702, ENST00000681761, ENST00000681821, ENST00000681938, ENST00000926401, ENST00000926402, ENST00000926403, ENST00000926404, ENST00000963667

RefSeq mRNA: 1 — MANE Select: NM_003641 NM_003641

CCDS: CCDS41584

Canonical transcript exons

ENST00000408968 — 2 exons

Exon	Start	End
ENSE00001492755	314040	314356
ENSE00003509567	314922	315272

Expression profiles

Bgee: expression breadth ubiquitous, 281 present calls, max score 99.71.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 251.5331 / max 6331.1095, expressed in 1705 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
112177	101.4950	1598
112176	91.6769	1629
112179	40.6797	914
112178	12.6024	1070
112180	4.9901	366
112175	0.0888	41

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right ovary	UBERON:0002118	99.71	gold quality
granulocyte	CL:0000094	99.68	gold quality
endocervix	UBERON:0000458	99.67	gold quality
left uterine tube	UBERON:0001303	99.67	gold quality
left ovary	UBERON:0002119	99.66	gold quality
right uterine tube	UBERON:0001302	99.62	gold quality
corpus epididymis	UBERON:0004359	99.60	gold quality
spleen	UBERON:0002106	99.59	gold quality
ectocervix	UBERON:0012249	99.55	gold quality
peritoneum	UBERON:0002358	99.52	gold quality
body of uterus	UBERON:0009853	99.52	gold quality
omental fat pad	UBERON:0010414	99.52	gold quality
blood	UBERON:0000178	99.47	gold quality
right lobe of thyroid gland	UBERON:0001119	99.46	gold quality
apex of heart	UBERON:0002098	99.46	gold quality
pericardium	UBERON:0002407	99.41	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	99.38	gold quality
adipose tissue of abdominal region	UBERON:0007808	99.38	gold quality
metanephros cortex	UBERON:0010533	99.37	gold quality
left lobe of thyroid gland	UBERON:0001120	99.36	gold quality
subcutaneous adipose tissue	UBERON:0002190	99.36	gold quality
right lung	UBERON:0002167	99.35	gold quality
lymph node	UBERON:0000029	99.30	gold quality
gall bladder	UBERON:0002110	99.27	gold quality
right atrium auricular region	UBERON:0006631	99.27	gold quality
small intestine Peyer’s patch	UBERON:0003454	99.24	gold quality
upper lobe of left lung	UBERON:0008952	99.24	gold quality
mucosa of stomach	UBERON:0001199	99.23	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	99.23	gold quality
lower esophagus muscularis layer	UBERON:0035833	99.22	gold quality

Single-cell (SCXA)

Detected in 76 experiment(s), a significant marker in 61.

Experiment	Marker?	Max mean expression
E-HCAD-13	yes	7435.24
E-MTAB-9435	yes	6896.91
E-MTAB-6701	yes	6330.78
E-HCAD-11	yes	5399.42
E-MTAB-9388	yes	5312.16
E-ENAD-20	yes	4632.64
E-MTAB-10042	yes	4608.75
E-GEOD-149689	yes	4523.25
E-GEOD-139324	yes	4228.45
E-MTAB-8142	yes	3917.31
E-HCAD-24	yes	3698.53
E-CURD-122	yes	3526.57
E-MTAB-7407	yes	3414.14
E-HCAD-15	yes	3383.25
E-GEOD-130148	yes	3378.80

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): CTNNB1, GLI2, SIN3A, STAT1

miRNA regulators (miRDB)

12 targeting IFITM1, 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-6132	99.60	65.83	1554
HSA-MIR-486-3P	99.51	66.82	1901
HSA-MIR-4688	99.48	64.68	828
HSA-MIR-548AV-3P	99.43	68.50	1721
HSA-MIR-4999-5P	99.35	69.15	926
HSA-MIR-504-3P	99.30	67.18	1745
HSA-MIR-1183	98.75	67.10	1116
HSA-MIR-6511B-5P	97.98	65.64	823
HSA-MIR-6811-5P	97.98	64.96	848
HSA-MIR-122-5P	97.23	64.92	1024
HSA-MIR-552-3P	96.68	64.12	1026
HSA-MIR-4524B-3P	95.52	64.12	964

Literature-anchored findings (GeneRIF, showing 40)

• LEU13 has a novel role different from that in the inhibition of cell proliferation, involved in IFNA-induced refractoriness of RSa cells to X rays (PMID:12926988)
• IFITM1 expression profiling could be used for molecular classification of CML, which may also predict survival (PMID:15661263)
• Overexpression of 9-27 leads to increased migration and invasiveness by suppressing natural killer cells in gastric cancer (PMID:15808405)
• IFITM1 has a role in cellular sensitivity to CDDP in esophageal cancer (PMID:18202764)
• IFITM1 plays an important role for the invasion at the early stage of HNSCC progression (PMID:18829488)
• The positive expression level of IFITM1 is associated with the progression of the carcinogenetic process in Peutz-Jeghers syndrome. (PMID:19304549)
• results revealed that the interaction between IFITM1 and CAV-1 could enhance the inhibitory effect of CAV-1 on ERK activation (PMID:19499152)
• Antiviral effect of IFITM family members on H1N1 influenza, West Nile virus, and Dengue virus (PMID:20064371)
• Down regulation of IFITM1 is associated with cervical squamous cell carcinoma. (PMID:20099975)
• Data show that ULBP1, TFR2 and IFITM1 were associated with increased susceptibility to Vgamma9Vdelta2 T-cell cytotoxicity. (PMID:20220060)
• Activated IFITM1 is associated with Peutz-Jeghers syndrome polyps. (PMID:20428811)
• IFITM1 was expressed in the five human glioma cell lines, and its expressions were positively correlated with their tumorigenicity (PMID:20838853)
• IFITM1, IFITM2, and IFITM3 inhibit HIV-1 replication through interfering with virus entry. (PMID:21177806)
• IFITM proteins differentially restrict the entry of a broad range of enveloped viruses, and modulate cellular tropism independently of viral receptor expression. (PMID:21253575)
• Hepatitis C virus infection suppresses the upregulation of a subset of effector molecules, including ISG56 and IFITM1. (PMID:21976647)
• The results suggest that the expression of IFITM1 controls the invasiveness and migration of gastric cancer. (PMID:22609115)
• IFITM1 knockdown in human alveolar-derived bone marrow stromal cells was associated with inhibition of Runx2 mRNA and protein expression. (PMID:22634173)
• Introduction of anti-miR-130a in hepatocytes increased IFITM1 expression. Hepatocytes stably expressing IFITM1 reduced HCV replication. Together, these results suggested that HCV infection of hepatocytes upregulates miR-130a. (PMID:22787204)
• This study defines IFITM1 as an interferon-stimulated gene effector with action against HCV entry. (PMID:22996292)
• 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)
• IFITM1 is a potential valuable addition to immunohistochemical panels used in the diagnosis of cellular mesenchymal uterine tumors. (PMID:24072182)
• Results suggest that the g.-1920G>A polymorphism in interferon inducible transmembrane protein 1 (IFITM1) may be associated with susceptibility to ulcerative colitis (UC). (PMID:24120510)
• Schizophrenia subjects with higher IFITM mRNA levels in cortical blood vessels have greater disturbances in cortical GABA neurons suggests that these cell-type disturbances might be influenced by a shared upstream insult that involves immune activation. (PMID:24209773)
• IFITM1 is essential for the formation of functional blood vessels and stabilizes EC-EC interactions during endothelial lumen formation by regulating tight junction assembly. (PMID:24603679)
• IFITM1 could be a novel metastasis-promoting gene that enhances the metastatic phenotype in ovarian cancer via epigenetic transcriptional regulation. (PMID:24676393)
• 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)
• the importance of the C-terminal region of IFITM1 in modulating the antiviral function through controlling protein subcellular localization. (PMID:25738301)
• Suggest that IFITM1 promotes the aggressiveness of colorectal cancer cells via caveolin-1 signaling. (PMID:26259513)
• 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)
• High expression of IFITM1 is associated with poor prognosis of colorectal cancer. (PMID:26884876)
• These findings indicate that overexpression of IFITM1 enhances the aggressive phenotype of triple-negative SUM149 IBC cells and that this effect is dependent on STAT2/BRG1 interaction. (PMID:26897526)
• Compared with CD10, IFITM1 has superior performance distinguishing endometrial stroma of adenomyosis from mesenchyma surrounding invasive endometrial adenocarcinoma. (PMID:27124937)
• These results indicate that IFITM1 protein can restrict alphavirus infection by inhibiting viral fusion with cellular membranes. (PMID:27219333)
• Overexpression of IFITM1 is associated with Oral Squamous Cell Carcinomas. (PMID:27221933)
• IFITM1 and IFITM3 inhibit Zika virus infection early in the viral life cycle. (PMID:27268505)
• Strong ifitm1 Expression in CD4 T Cells in HIV Controllers Is Correlated With Immune Activation (PMID:27552157)
• Epithelial-mesenchymal transition (EMT) signature was dysregulated by both loss and gain of function of IFITM1, which was partially reverted by Caveolin-1 (CAV1). (PMID:27852071)

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), IFITM2 (ENSG00000185201), IFITM5 (ENSG00000206013), IFITM10 (ENSG00000244242), (ENSG00000300510)

Protein

Protein identifiers

Interferon-induced transmembrane protein 1 — P13164 (reviewed: P13164)

Alternative names: Dispanin subfamily A member 2a, Interferon-induced protein 17, Interferon-inducible protein 9-27, Leu-13 antigen

All UniProt accessions (11): A0A7P0T8C2, A0A7P0T8E0, A0A7P0T921, A0A7P0T9N0, A0A7P0TA40, A0A7P0TAF0, A0A7P0TAH2, A0A7P0TAW0, A0A7P0TB03, A0A7P0Z452, P13164

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) and hepatitis C virus (HCV). Can inhibit: influenza virus hemagglutinin protein-mediated viral entry, MARV and EBOV GP1,2-mediated viral entry and SARS-CoV and SARS-CoV-2 S protein-mediated viral entry. Also implicated in cell adhesion and control of cell growth and migration. Inhibits SARS-CoV-2 S protein-mediated syncytia formation. Plays a key role in the antiproliferative action of IFN-gamma either by inhibiting the ERK activation or by arresting cell growth in G1 phase in a p53-dependent manner. Acts as a positive regulator of osteoblast differentiation. 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. Part of a complex composed of CD19, CR2/CD21, CD81 and IFITM1/CD225 in the membrane of mature B-cells. Interacts with CAV1; this interaction enhances the ability of CAV1 in inhibiting ERK activation.

Subcellular location. Cell membrane. Lysosome membrane.

Tissue specificity. Bone (at protein level). Levels greatly elevated in colon cancer, cervical cancer, esophageal cancer and ovarian cancer. Expressed in glioma cell lines.

Post-translational modifications. Palmitoylation on membrane-proximal cysteines controls clustering in membrane compartments and antiviral activity.

Induction. By IFN-alpha and IFNG/IFN-gamma.

Similarity. Belongs to the CD225/Dispanin family.

RefSeq proteins (1): NP_003632* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR007593	CD225/Dispanin_fam	Family
IPR051517	IFITM_antiviral_protein	Family

Pfam: PF04505

UniProt features (15 total): topological domain 3, lipid moiety-binding region 3, mutagenesis site 2, chain 1, sequence variant 1, sequence conflict 1, intramembrane region 1, transmembrane region 1, region of interest 1, modified residue 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P13164-F1	64.88	0.17

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 (4): 84, 16, 50, 51

Mutagenesis-validated functional residues (2):

Position	Phenotype
50–51	no effect on anti-hcv activity. only localizes at the lysosome.
84	loss of anti-hcv activity. only localizes at the lysosome.

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-198933	Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
R-HSA-909733	Interferon alpha/beta signaling

MSigDB gene sets: 455 (showing top): VERHAAK_AML_WITH_NPM1_MUTATED_DN, WALLACE_PROSTATE_CANCER_RACE_UP, JI_RESPONSE_TO_FSH_UP, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, KAAB_FAILED_HEART_ATRIUM_DN, BASSO_B_LYMPHOCYTE_NETWORK, GOBP_RESPONSE_TO_PEPTIDE, GOCC_VACUOLAR_MEMBRANE, BECKER_TAMOXIFEN_RESISTANCE_UP, MODULE_64, GOBP_NEGATIVE_REGULATION_OF_VIRAL_PROCESS, GOBP_RESPONSE_TO_TYPE_I_INTERFERON, GAUSSMANN_MLL_AF4_FUSION_TARGETS_C_UP, MODULE_128

GO Biological Process (15): ossification (GO:0001503), cell surface receptor signaling pathway (GO:0007166), negative regulation of cell population proliferation (GO:0008285), response to virus (GO:0009615), negative regulation of cell migration (GO:0030336), response to type II interferon (GO:0034341), response to interferon-alpha (GO:0035455), response to interferon-beta (GO:0035456), negative regulation of viral genome replication (GO:0045071), positive regulation of osteoblast differentiation (GO:0045669), 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 (1): protein binding (GO:0005515)

GO Cellular Component (6): lysosomal membrane (GO:0005765), Golgi apparatus (GO:0005794), plasma membrane (GO:0005886), membrane (GO:0016020), protein-containing complex (GO:0032991), lysosome (GO:0005764)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Adaptive Immune System	1
Interferon Signaling	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
response to cytokine	3
innate immune response	2
multicellular organismal process	1
signal transduction	1
cell population proliferation	1
regulation of cell population proliferation	1
negative regulation of cellular process	1
response to other organism	1
cell migration	1
regulation of cell migration	1
negative regulation of cell motility	1
viral genome replication	1
regulation of viral genome replication	1
negative regulation of viral process	1
osteoblast differentiation	1
positive regulation of cell differentiation	1
regulation of osteoblast differentiation	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
binding	1
lysosome	1
lytic vacuole membrane	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
membrane	1
cell periphery	1
cellular anatomical structure	1
cellular_component	1
lytic vacuole	1

Protein interactions and networks

STRING

1914 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
IFITM1	CD81	P18582	994
IFITM1	CD19	P15391	994
IFITM1	CR2	P20023	994
IFITM1	IFI27	P40305	870
IFITM1	IFIT1	P09914	819
IFITM1	IFI6	P09912	817
IFITM1	IFIT3	O14879	801
IFITM1	CAV1	Q03135	801
IFITM1	ISG15	P05161	799
IFITM1	OAS1	P00973	782
IFITM1	MS4A1	P08984	763
IFITM1	ARID2	Q68CP9	732
IFITM1	IRF9	Q00978	731
IFITM1	OCLN	Q16625	721
IFITM1	MX1	P20591	719

IntAct

25 interactions, top by confidence:

A	B	Type	Score
PRRT2	NDUFB3	psi-mi:“MI:0914”(association)	0.530
GPC1	GANAB	psi-mi:“MI:0915”(physical association)	0.400
MEP1B	IFITM1	psi-mi:“MI:0915”(physical association)	0.370
PROM1	IFITM1	psi-mi:“MI:0915”(physical association)	0.370
IFITM1	“BALF4	psi-mi:“MI:0915”(physical association)	0.370
	SHTN1	psi-mi:“MI:0914”(association)	0.350
	TMEM223	psi-mi:“MI:0914”(association)	0.350
	TNFRSF10A	psi-mi:“MI:0914”(association)	0.350
SMIM26	CNOT1	psi-mi:“MI:0914”(association)	0.350
KRTCAP2	PLSCR1	psi-mi:“MI:0914”(association)	0.350
IFITM3	PRAF2	psi-mi:“MI:0914”(association)	0.350
IFITM1	NCAM1	psi-mi:“MI:0914”(association)	0.350
PCDHB3	ESYT2	psi-mi:“MI:0914”(association)	0.350
PIGH	ILVBL	psi-mi:“MI:0914”(association)	0.350
SPPL2B	HAS3	psi-mi:“MI:0914”(association)	0.350
VIPR1	SLC33A1	psi-mi:“MI:0914”(association)	0.350
LPAR2	EI24	psi-mi:“MI:0914”(association)	0.350
TMEM170A	CDIPT	psi-mi:“MI:0914”(association)	0.350
SLC43A3	SURF4	psi-mi:“MI:0914”(association)	0.350
PCDH10	MYCBP2	psi-mi:“MI:0914”(association)	0.350
DNAJC5B	TNFRSF6B	psi-mi:“MI:0914”(association)	0.350
	IFITM1	psi-mi:“MI:0915”(physical association)	0.000
IFITM1	pqiB2	psi-mi:“MI:0915”(physical association)	0.000
ABHD16A	IFITM1	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (394): IFITM1 (Two-hybrid), IFITM1 (Co-localization), IFITM1 (Affinity Capture-MS), IFITM1 (Affinity Capture-MS), IFITM1 (Affinity Capture-MS), IFITM1 (Affinity Capture-Western), IFITM1 (Affinity Capture-Western), IFITM1 (Affinity Capture-MS), TMEM245 (Affinity Capture-MS), LTBP1 (Affinity Capture-MS), IFITM1 (Affinity Capture-Western), RRAGC (Affinity Capture-MS), FUNDC2 (Affinity Capture-MS), GNAZ (Affinity Capture-MS), NCAM1 (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

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	6
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
154856	GRCh38/hg38 11p15.5(chr11:196855-2116185)x3	Pathogenic

SpliceAI

442 predictions. Top by Δscore:

Variant	Effect	Δscore
11:314356:GGT:G	donor_loss	1.0000
11:314357:G:GC	donor_loss	1.0000
11:314358:T:G	donor_loss	1.0000
11:314357:G:GG	donor_gain	0.9900
11:314920:A:AG	acceptor_gain	0.9900
11:314921:G:GA	acceptor_gain	0.9900
11:314921:GTCTA:G	acceptor_gain	0.9900
11:314161:A:G	acceptor_gain	0.9800
11:314921:GT:G	acceptor_gain	0.9800
11:314353:GAAG:G	donor_gain	0.9700
11:314921:GTC:G	acceptor_gain	0.9700
11:314921:GTCT:G	acceptor_gain	0.9700
11:313687:G:GG	donor_gain	0.9600
11:314160:A:AG	acceptor_gain	0.9600
11:314162:A:G	acceptor_gain	0.9600
11:314163:G:GG	acceptor_gain	0.9500
11:314230:A:AC	acceptor_gain	0.9500
11:314354:AAGG:A	donor_gain	0.9400
11:314355:AGGT:A	donor_gain	0.9400
11:314356:GGTG:G	donor_gain	0.9400
11:314357:G:C	donor_gain	0.9400
11:314358:T:A	donor_gain	0.9400
11:314360:CGTA:C	donor_gain	0.9400
11:314926:GGGA:G	acceptor_gain	0.9400
11:314164:CCAGA:C	acceptor_gain	0.9300
11:314359:G:GG	donor_gain	0.9200
11:314361:G:C	donor_gain	0.9100
11:314149:C:G	acceptor_gain	0.8900
11:314355:AG:A	donor_gain	0.8900
11:314356:GG:G	donor_gain	0.8900

AlphaMissense

815 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:314926:G:T	R64M	0.994
11:314927:G:C	R64S	0.994
11:314927:G:T	R64S	0.994
11:314356:G:C	K62N	0.992
11:314356:G:T	K62N	0.992
11:314285:T:A	W39R	0.991
11:314285:T:C	W39R	0.991
11:314299:C:A	N43K	0.991
11:314299:C:G	N43K	0.991
11:314926:G:C	R64T	0.991
11:314993:C:A	N86K	0.991
11:314993:C:G	N86K	0.991
11:314327:G:C	G53R	0.990
11:314929:A:C	D65A	0.990
11:314928:G:C	D65H	0.989
11:314337:C:A	A56E	0.987
11:314929:A:T	D65V	0.987
11:314936:G:C	K67N	0.986
11:314936:G:T	K67N	0.986
11:314314:C:A	N48K	0.985
11:314314:C:G	N48K	0.985
11:314980:C:A	A82D	0.985
11:314328:G:A	G53D	0.984
11:314930:C:A	D65E	0.984
11:314930:C:G	D65E	0.984
11:314349:C:T	S60F	0.983
11:314979:G:C	A82P	0.983
11:314321:T:C	C51R	0.980
11:314989:T:C	L85P	0.979
11:314923:C:T	S63F	0.978

dbSNP variants (sampled 300 via entrez): RS1000620768 (11:315350 C>G,T), RS1002061587 (11:314829 G>C), RS1002331178 (11:314054 AAGG>A), RS1002683780 (11:313684 C>T), RS1002724271 (11:312217 T>C), RS1003284234 (11:312285 T>G), RS1003737697 (11:313566 T>A,G), RS1004019637 (11:314074 C>A,G,T), RS1005019336 (11:313144 A>T), RS1005533680 (11:315757 C>A,G), RS1006632009 (11:315673 A>G), RS1007103191 (11:315422 C>A,T), RS1008130803 (11:314599 T>G), RS1009186817 (11:314342 G>A,T), RS1009194351 (11:313526 C>A)

Disease associations

OMIM: gene MIM:604456 | 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

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	increases expression, affects expression, decreases expression	5
sodium arsenite	decreases expression, increases expression	4
Cisplatin	affects expression, affects reaction, affects response to substance	4
Tobacco Smoke Pollution	decreases expression, affects expression	4
Benzo(a)pyrene	affects methylation, decreases methylation, increases expression, decreases reaction	3
Estradiol	decreases expression, increases expression, affects cotreatment	3
Fluorouracil	increases expression	3
Tretinoin	increases expression, increases reaction	3
methylmercuric chloride	increases expression	2
trichostatin A	increases expression, affects cotreatment	2
entinostat	increases expression, affects cotreatment	2
Panobinostat	affects cotreatment, increases expression	2
Acetaminophen	decreases expression, increases expression	2
Air Pollutants	decreases expression, increases abundance	2
Benzene	increases expression	2
Lipopolysaccharides	increases expression, decreases reaction	2
Methylnitronitrosoguanidine	increases expression	2
Nickel	increases expression	2
Phenylmercuric Acetate	decreases expression, affects cotreatment	2
Smoke	decreases expression, increases abundance	2
Tetrachlorodibenzodioxin	affects cotreatment, decreases expression, increases expression	2
Triclosan	increases expression, affects cotreatment	2
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	increases expression	2
3,19-(2-bromobenzylidene)andrographolide	decreases response to substance, increases expression	1
bisphenol F	affects cotreatment, increases expression	1
triphenyl phosphate	affects expression	1
propionaldehyde	decreases expression	1
bisphenol A	affects cotreatment, decreases methylation	1
chlorophyllin	decreases reaction, increases expression	1
mono-(2-ethylhexyl)phthalate	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_B8HU	Abcam HCT 116 IFITM1 KO	Cancer cell line	Male
CVCL_B9K4	Abcam A-549 IFITM1 KO	Cancer cell line	Male
CVCL_D2FP	Abcam MCF-7 IFITM1 KO	Cancer cell line	Female
CVCL_SS17	HAP1 IFITM1 (-) 1	Cancer cell line	Male
CVCL_SS18	HAP1 IFITM1 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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