IL7R
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Also known as CD127IL7RAlnc-IL7RIL-7RalphaIL7RalphasIL-7RCDw127
Summary
IL7R (interleukin 7 receptor, HGNC:6024) is a protein-coding gene on chromosome 5p13.2, encoding Interleukin-7 receptor subunit alpha (P16871). Receptor for interleukin-7.
The protein encoded by this gene is a receptor for interleukin 7 (IL7). The function of this receptor requires the interleukin 2 receptor, gamma chain (IL2RG), which is a common gamma chain shared by the receptors of various cytokines, including interleukins 2, 4, 7, 9, and 15. This protein has been shown to play a critical role in V(D)J recombination during lymphocyte development. Defects in this gene may be associated with severe combined immunodeficiency (SCID). Alternatively spliced transcript variants have been found.
Source: NCBI Gene 3575 — RefSeq curated summary.
At a glance
- Gene–disease (curated): immunodeficiency 104 (Definitive, ClinGen) — +2 more curated relationships
- GWAS associations: 43
- Clinical variants (ClinVar): 605 total — 46 pathogenic, 15 likely-pathogenic
- Phenotypes (HPO): 59
- Cancer driver (intOGen): activating (oncogene-like) across 4 cancer types
- MANE Select transcript:
NM_002185
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:6024 |
| Approved symbol | IL7R |
| Name | interleukin 7 receptor |
| Location | 5p13.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | CD127, IL7RA, lnc-IL7R, IL-7Ralpha, IL7Ralpha, sIL-7R, CDw127 |
| Ensembl gene | ENSG00000168685 |
| Ensembl biotype | protein_coding |
| OMIM | 146661 |
| Entrez | 3575 |
Gene structure
Transcript identifiers
Ensembl transcripts: 11 — 7 protein_coding, 2 retained_intron, 1 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay
ENST00000303115, ENST00000505093, ENST00000505875, ENST00000506850, ENST00000508941, ENST00000509668, ENST00000511031, ENST00000511982, ENST00000514217, ENST00000515665, ENST00000877114
RefSeq mRNA: 2 — MANE Select: NM_002185
NM_001410734, NM_002185
CCDS: CCDS3911
Canonical transcript exons
ENST00000303115 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001130269 | 35873480 | 35873648 |
| ENSE00001130274 | 35871056 | 35871213 |
| ENSE00001130282 | 35867306 | 35867463 |
| ENSE00001805007 | 35875983 | 35879603 |
| ENSE00002047686 | 35856891 | 35857059 |
| ENSE00003475448 | 35875512 | 35875587 |
| ENSE00003666759 | 35874449 | 35874542 |
| ENSE00003667135 | 35860852 | 35860990 |
Expression profiles
Bgee: expression breadth ubiquitous, 220 present calls, max score 97.85.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 51.0899 / max 3672.3247, expressed in 1029 samples.
FANTOM5 promoters (8 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 56110 | 27.3324 | 686 |
| 56111 | 19.0782 | 898 |
| 56112 | 1.9516 | 204 |
| 56109 | 0.7694 | 234 |
| 56108 | 0.6947 | 230 |
| 56104 | 0.6290 | 151 |
| 56113 | 0.5137 | 57 |
| 56105 | 0.1210 | 59 |
Top tissues by expression
290 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right lung | UBERON:0002167 | 97.85 | gold quality |
| granulocyte | CL:0000094 | 97.14 | gold quality |
| lymph node | UBERON:0000029 | 96.99 | gold quality |
| lower lobe of lung | UBERON:0008949 | 96.62 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 96.15 | gold quality |
| nasopharynx | UBERON:0001728 | 96.13 | gold quality |
| vermiform appendix | UBERON:0001154 | 95.94 | gold quality |
| blood | UBERON:0000178 | 95.38 | gold quality |
| thymus | UBERON:0002370 | 95.07 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 94.78 | gold quality |
| upper lobe of lung | UBERON:0008948 | 94.73 | gold quality |
| gall bladder | UBERON:0002110 | 94.10 | gold quality |
| lung | UBERON:0002048 | 93.39 | gold quality |
| caecum | UBERON:0001153 | 92.89 | gold quality |
| spleen | UBERON:0002106 | 92.74 | gold quality |
| visceral pleura | UBERON:0002401 | 92.74 | gold quality |
| colonic epithelium | UBERON:0000397 | 92.18 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 91.93 | gold quality |
| amniotic fluid | UBERON:0000173 | 91.05 | gold quality |
| small intestine | UBERON:0002108 | 90.20 | gold quality |
| jejunal mucosa | UBERON:0000399 | 90.08 | gold quality |
| bone marrow | UBERON:0002371 | 89.41 | gold quality |
| tonsil | UBERON:0002372 | 88.92 | gold quality |
| rectum | UBERON:0001052 | 88.85 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 88.16 | gold quality |
| superficial temporal artery | UBERON:0001614 | 87.91 | gold quality |
| bone marrow cell | CL:0002092 | 87.57 | gold quality |
| ileal mucosa | UBERON:0000331 | 87.32 | gold quality |
| pleura | UBERON:0000977 | 87.23 | gold quality |
| parietal pleura | UBERON:0002400 | 86.59 | gold quality |
Single-cell (SCXA)
Detected in 48 experiment(s), a significant marker in 37.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-46 | yes | 3376.74 |
| E-MTAB-8142 | yes | 3013.77 |
| E-CURD-120 | yes | 2795.48 |
| E-MTAB-10553 | yes | 2745.88 |
| E-CURD-112 | yes | 2710.99 |
| E-CURD-88 | yes | 2530.67 |
| E-CURD-122 | yes | 2472.53 |
| E-GEOD-150728 | yes | 2351.19 |
| E-HCAD-36 | yes | 2323.57 |
| E-MTAB-6678 | yes | 2064.91 |
| E-MTAB-10042 | yes | 1976.12 |
| E-MTAB-9221 | yes | 1957.26 |
| E-HCAD-1 | yes | 1893.19 |
| E-MTAB-10855 | yes | 1829.62 |
| E-HCAD-15 | yes | 1803.04 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): AP1, BRD2, BRD4, ETS1, FOS, FOXO1, FOXP1, GABPA, GATA3, GFI1, IKZF1, JUN, MAFB, MYC, NOTCH1, NR3C1, RELA, RUNX1, SPI1, STAT5A, TCF3, ZBTB17
Literature-anchored findings (GeneRIF, showing 40)
- IL-7 may function to regulate the milieu of the microenvironment by modulating IL-6 secretion by the IL-7R-expressing stromal elements (PMID:12149213)
- IL-2 signaling can diminish IL-7Ralpha expression via a phosphatidylinositol 3-kinase/Akt-dependent mechanism. (PMID:12354940)
- IL-7R has a role in some human solid malignancies [review] (PMID:12792903)
- Interaction between IL-7 and its receptor has the major role in modulating T-ALL survival within the microenvironment generated by the T-ALL/TEC interaction. (PMID:14607751)
- Expansion of CD8 positive, CD127 negative effector-like T cells is identified as a novel feature of HIV-associated immune perturbation. (PMID:15728501)
- Maturation of memory CD4 and CD8 T cells is associated with a CD127high phenotype and the expression of CD127 serves as a predictor of the functional quality of antiviral T cells. (PMID:15879083)
- Virus-specific IL-7Ralpha+ cells proliferated vigorously in response to IL-7, IL-15, or peptide, whereas IL-7Ralpha- cells required both peptide and helper-cell activation or IL-2 or IL-15 for optimal expansion (PMID:15947093)
- Altogether, we show that gamma(c) is the target of an ubiquitination mechanism and its expression level can be regulated through the activities of a couple of ubiquitin-ligase/ubiquitin-hydrolase enzymes, namely c-Cbl/DUB-2. (PMID:16004964)
- The T cell proliferation gene IL7R (CD127) was also underexpressed in PPMS, but was up-regulated in SPMS compared to the controls. (PMID:16075257)
- Aging affects IL-7Ralpha expression by T cells, leading to impaired signaling and survival responses to IL-7. (PMID:16357322)
- HIV infection produces the Tat protein, which in turn may up-regulate IL-7R in a paracrine manner, which ultimately promotes early events in HIV replication. (PMID:16614257)
- Transcription of the IL-7R alpha subunit is suppressed in both naive and memory T cells following IL-7 stimulation. (PMID:16709829)
- Cell surface expression of CD127 therefore allows accurate estimation of regulatory T cell numbers and isolation of pure populations for in vitro studies and should contribute to our understanding of regulatory abnormalities in immunopathic diseases. (PMID:16818676)
- CD127 can be used to quantitate regulatory T (Treg) cell subsets in individuals with type 1 diabetes supporting the use of CD127 as a biomarker for human Treg cells. (PMID:16818678)
- CD127 expression on T cells remains low in HIV-infected patients despite antiretroviral therapy (PMID:16837861)
- IL-7 receptor and Notch1 pathways cooperate to synchronize cell proliferation and suppression of non-T lineage choices in primitive intrathymic progenitors. (PMID:16951331)
- CD127 uniquely enables the purification of FOXP3+ Treg cells and, potentially, also “adaptive” regulatory T-cell subsets from the CD4+CD25- T-cell population. (PMID:17045841)
- A large fraction of peripheral HCV-specific CD8+ T cells were CD127+ and KLRG1-. Intrahepatic virus-specific CD8+ T cells displayed significantly reduced levels of CD127 expression but similar levels of KLRG1 expression compared to the peripheral blood. (PMID:17079288)
- CD4+ regulatory T-cells exhibiting suppressive activity in vitro display distinctly lower surface expression of CD127, irrespective of their level of CD25 expression. (PMID:17173927)
- results confirm that signal transduction via the IL-15R, and hence NK ontogeny, is preferentially retained relative to the IL-7R as gammac expression becomes limiting. (PMID:17363735)
- These findings suggest that DNA methylation is involved in regulating IL-7Ralpha expression in T cells via affecting IL-7Ralpha gene promoter activity. (PMID:17442928)
- gene encoding the IL-7Ralpha chain is polymorphic, and investigation of inhalation allergic patients compared with controls showed significant association with two alleles at position +1237 and +2087 (PMID:17504502)
- A subset of naive CD8-positive cells characterized by low interleukin-7 receptor alpha message and protein expression may encompass cells that have recently received homeostatic signals. (PMID:17579041)
- CD4(+)CD25(+)CD45RO(+)IL-7Ralpha(high) cell population contained allospecific CD4 T cells and secreted effector cytokines. (PMID:17591854)
- Increased constitutive interleukin-7 receptor alpha expression has minimal effects on the numbers or function of effector and memory CD8 T cells formed. (PMID:17609371)
- Alleles of IL2RA and IL7RA and those in the HLA locus are identified as heritable risk factors for multiple sclerosis. (PMID:17660530)
- Results provide compelling evidence that polymorphisms in IL7R, which encodes the interleukin 7 receptor alpha chain (IL7Ralpha), indeed contribute to the non-HLA genetic risk in multiple sclerosis. (PMID:17660816)
- Results show allelic association of a polymorphism in interleukin 7 receptor alpha chain (IL7R) as a significant risk factor for multiple sclerosis in four independent family-based or case-control data sets. (PMID:17660817)
- Immunolocalization of IL-7, IL-7Ralpha, SDF-1alpha, and CXCR4 resulted in a diffuse but specific labeling. RT-PCR analysis confirmed the expression of the above-mentioned transcripts. (PMID:17894415)
- Stimulation of the IL-7 pathway begins with IL-7 binding to unglycosylated and glycosylated forms of its alpha-receptor, IL-7 receptor alpha. (PMID:17909291)
- Haplotypes of the IL7R gene are correlated with altered expression in whole blood cells in multiple sclerosis. (PMID:17928869)
- IL-7 reduced CD127-surface expression and shedding by CD8+ T cells; results support a role for IL-7 in the down-regulation of CD127 expression and impairment of CTL function observed in HIV infection (PMID:17956896)
- We report that loss of CD127 defines terminally differentiated B cell-helping effector T cells in human tonsils. (PMID:18025189)
- The association between rs6897932 and multiple sclerosis in the Olmsted County collection appeared to be much stronger than anticipated on the basis of recent studies (PMID:18272905)
- Expression of transgenic IL-7 receptor alpha by itself does not support increased survival of effector antigen-specific CD4 or CD8 T cells into the memory phase following infection with Listeria monocytogenes. (PMID:18292507)
- IL2RA and IL7RA genes confer susceptibility for multiple sclerosis in two independent European populations. (PMID:18354419)
- IL-7- and TCR/CD28-mediated signaling data show that differentially regulate IL-7Ralpha expression on human T cells with a transient and chronic effect, respectively. (PMID:18390701)
- during HIV infection, specific changes in the fraction of CD4(+) T cells expressing CD25 and/or CD127 are associated with disease progression (PMID:18390743)
- Independent replication of the association between the CAPSL and IL7R locus and type 1 diabetes, especially for early-onset type 1 diabetes patients. (PMID:18563381)
- Association studies between IL7RA rs6897932 and multiple sclerosis. (PMID:18721276)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Il7r | ENSMUSG00000003882 |
| rattus_norvegicus | Il7r | ENSRNOG00000065741 |
Paralogs (7): IL4R (ENSG00000077238), CSF2RB (ENSG00000100368), IL2RB (ENSG00000100385), IL21R (ENSG00000103522), MPL (ENSG00000117400), IL9R (ENSG00000124334), EPOR (ENSG00000187266)
Protein
Protein identifiers
Interleukin-7 receptor subunit alpha — P16871 (reviewed: P16871)
Alternative names: CDw127
All UniProt accessions (6): B8YG18, P16871, D6RCR9, D6RDM4, D6RG28, H0YA41
UniProt curated annotations — full annotation on UniProt →
Function. Receptor for interleukin-7. Also acts as a receptor for thymic stromal lymphopoietin (TSLP).
Subunit / interactions. The IL7 receptor is a heterodimer of IL7R and IL2RG. The TSLP receptor is a heterodimer of CRLF2 and IL7R. Interacts with CD53.
Subcellular location. Cell membrane Cell membrane Secreted.
Post-translational modifications. N-glycosylated IL-7Ralpha binds IL7 300-fold more tightly than the unglycosylated form. Ubiquitinated by MARCHF8; leading to lysosomal degradation.
Disease relevance. Immunodeficiency 104, severe combined (IMD104) [MIM:608971] A form of severe combined immunodeficiency (SCID), a genetically and clinically heterogeneous group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. Patients present in infancy recurrent, persistent infections by opportunistic organisms. The common characteristic of all types of SCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development. The disease is caused by variants affecting the gene represented in this entry. Multiple sclerosis 3 (MS3) [MIM:612595] A multifactorial, inflammatory, demyelinating disease of the central nervous system. Sclerotic lesions are characterized by perivascular infiltration of monocytes and lymphocytes and appear as indurated areas in pathologic specimens (sclerosis in plaques). The pathological mechanism is regarded as an autoimmune attack of the myelin sheath, mediated by both cellular and humoral immunity. Clinical manifestations include visual loss, extra-ocular movement disorders, paresthesias, loss of sensation, weakness, dysarthria, spasticity, ataxia and bladder dysfunction. Genetic and environmental factors influence susceptibility to the disease. Disease susceptibility is associated with variants affecting the gene represented in this entry. A polymorphism at position 244 strongly influences susceptibility to multiple sclerosis. Overtransmission of the major ‘C’ allele coding for Thr-244 is detected in offspring affected with multiple sclerosis. In vitro analysis of transcripts from minigenes containing either ‘C’ allele (Thr-244) or ‘T’ allele (Ile-244) shows that the ‘C’ allele results in an approximately two-fold increase in the skipping of exon 6, leading to increased production of a soluble form of IL7R. Thus, the multiple sclerosis associated ‘C’ risk allele of IL7R would probably decrease membrane-bound expression of IL7R. As this risk allele is common in the general population, some additional triggers are probably required for the development and progression of MS.
Domain organisation. The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell-surface receptor binding. The box 1 motif is required for JAK interaction and/or activation.
Similarity. Belongs to the type I cytokine receptor family. Type 4 subfamily.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| P16871-1 | 1, H20 | yes |
| P16871-2 | 3, H1 | |
| P16871-3 | 4, H6, Secreted | |
| P16871-4 | 2, Secreted |
RefSeq proteins (2): NP_001397663, NP_002176* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR003531 | Hempt_rcpt_S_F1_CS | Conserved_site |
| IPR003961 | FN3_dom | Domain |
| IPR013783 | Ig-like_fold | Homologous_superfamily |
| IPR036116 | FN3_sf | Homologous_superfamily |
| IPR040997 | FN3_7 | Domain |
Pfam: PF00041, PF18447
UniProt features (55 total): strand 17, sequence variant 7, glycosylation site 6, splice variant 4, sequence conflict 4, helix 4, disulfide bond 3, topological domain 2, short sequence motif 2, signal peptide 1, chain 1, transmembrane region 1, turn 1, domain 1, modified residue 1
Structure
Experimental structures (PDB)
8 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7OPB | X-RAY DIFFRACTION | 2.14 |
| 3UP1 | X-RAY DIFFRACTION | 2.15 |
| 5J11 | X-RAY DIFFRACTION | 2.56 |
| 3DI2 | X-RAY DIFFRACTION | 2.7 |
| 3DI3 | X-RAY DIFFRACTION | 2.9 |
| 6P50 | X-RAY DIFFRACTION | 2.9 |
| 6P67 | X-RAY DIFFRACTION | 2.9 |
| 9XEA | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P16871-F1 | 68.52 | 0.42 |
Antibody-complex structures (SAbDab): 2 — 6P50, 6P67
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): 282
Disulfide bonds (3): 42–57, 74–82, 108–118
Glycosylation sites (6): 65, 151, 182, 232, 233, 49
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-1266695 | Interleukin-7 signaling |
| R-HSA-8856825 | Cargo recognition for clathrin-mediated endocytosis |
| R-HSA-8856828 | Clathrin-mediated endocytosis |
MSigDB gene sets: 775 (showing top):
GOBP_REGULATION_OF_CELL_ACTIVATION, GOBP_REGULATION_OF_DNA_RECOMBINATION, GOBP_NEGATIVE_REGULATION_OF_PEPTIDYL_TYROSINE_PHOSPHORYLATION, WALLACE_PROSTATE_CANCER_RACE_UP, GOBP_NEGATIVE_REGULATION_OF_ADAPTIVE_IMMUNE_RESPONSE, MCLACHLAN_DENTAL_CARIES_UP, GOBP_POSITIVE_REGULATION_OF_HEMOPOIESIS, HOFFMANN_SMALL_PRE_BII_TO_IMMATURE_B_LYMPHOCYTE_DN, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, MODULE_169, GOBP_REGULATION_OF_PHOSPHORYLATION, REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, GOBP_RESPONSE_TO_PEPTIDE, GOBP_REGULATION_OF_LEUKOCYTE_APOPTOTIC_PROCESS, GOBP_B_CELL_ACTIVATION
GO Biological Process (26): regulation of DNA recombination (GO:0000018), cell morphogenesis (GO:0000902), B cell homeostasis (GO:0001782), T cell mediated cytotoxicity (GO:0001913), negative regulation of T cell mediated cytotoxicity (GO:0001915), immune response (GO:0006955), signal transduction (GO:0007165), cell surface receptor signaling pathway (GO:0007166), positive regulation of cell population proliferation (GO:0008284), regulation of cell size (GO:0008361), gene expression (GO:0010467), positive regulation of gene expression (GO:0010628), cellular homeostasis (GO:0019725), hemopoiesis (GO:0030097), T cell differentiation in thymus (GO:0033077), positive regulation of T cell differentiation in thymus (GO:0033089), interleukin-7-mediated signaling pathway (GO:0038111), B cell proliferation (GO:0042100), T cell homeostasis (GO:0043029), positive regulation of receptor signaling pathway via JAK-STAT (GO:0046427), lymph node development (GO:0048535), defense response to Gram-positive bacterium (GO:0050830), negative regulation of T cell apoptotic process (GO:0070233), positive regulation of receptor signaling pathway via STAT (GO:1904894), cytokine-mediated signaling pathway (GO:0019221), T cell differentiation (GO:0030217)
GO Molecular Function (4): antigen binding (GO:0003823), cytokine receptor activity (GO:0004896), interleukin-7 receptor activity (GO:0004917), protein binding (GO:0005515)
GO Cellular Component (7): extracellular region (GO:0005576), nucleoplasm (GO:0005654), cytosol (GO:0005829), plasma membrane (GO:0005886), external side of plasma membrane (GO:0009897), clathrin-coated endocytic vesicle membrane (GO:0030669), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| Signaling by Interleukins | 1 |
| Clathrin-mediated endocytosis | 1 |
| Membrane Trafficking | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 4 |
| lymphocyte homeostasis | 2 |
| cytokine-mediated signaling pathway | 2 |
| binding | 2 |
| DNA recombination | 1 |
| regulation of DNA metabolic process | 1 |
| anatomical structure morphogenesis | 1 |
| leukocyte mediated cytotoxicity | 1 |
| T cell mediated immunity | 1 |
| negative regulation of leukocyte mediated cytotoxicity | 1 |
| T cell mediated cytotoxicity | 1 |
| regulation of T cell mediated cytotoxicity | 1 |
| negative regulation of T cell mediated immunity | 1 |
| immune system process | 1 |
| response to stimulus | 1 |
| cell communication | 1 |
| cellular process | 1 |
| signaling | 1 |
| regulation of cellular process | 1 |
| cellular response to stimulus | 1 |
| signal transduction | 1 |
| cell population proliferation | 1 |
| regulation of cell population proliferation | 1 |
| positive regulation of cellular process | 1 |
| regulation of cellular component size | 1 |
| macromolecule biosynthetic process | 1 |
| gene expression | 1 |
| regulation of gene expression | 1 |
| positive regulation of macromolecule biosynthetic process | 1 |
| homeostatic process | 1 |
| cell development | 1 |
| T cell differentiation | 1 |
| T cell differentiation in thymus | 1 |
| regulation of T cell differentiation in thymus | 1 |
| positive regulation of T cell differentiation | 1 |
| cellular response to interleukin-7 | 1 |
| B cell activation | 1 |
| lymphocyte proliferation | 1 |
| cell surface receptor signaling pathway via JAK-STAT | 1 |
| regulation of receptor signaling pathway via JAK-STAT | 1 |
Protein interactions and networks
STRING
3203 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| IL7R | IL7 | P13232 | 999 |
| IL7R | IL2RG | P31785 | 998 |
| IL7R | TSLP | Q969D9 | 997 |
| IL7R | CRLF2 | Q9HC73 | 997 |
| IL7R | IL2 | P01585 | 942 |
| IL7R | JAK1 | P23458 | 942 |
| IL7R | IL15 | P40933 | 937 |
| IL7R | CD8A | P01732 | 935 |
| IL7R | CD4 | P01730 | 925 |
| IL7R | JAK3 | P52333 | 919 |
| IL7R | IL2RA | P01589 | 906 |
| IL7R | STAT5B | P51692 | 885 |
| IL7R | STAT5A | P42229 | 877 |
| IL7R | FOXP3 | Q9BZS1 | 871 |
| IL7R | IL4 | P05112 | 870 |
IntAct
75 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| IL7 | IL7R | psi-mi:“MI:0407”(direct interaction) | 0.740 |
| IL7 | IL7R | psi-mi:“MI:0915”(physical association) | 0.740 |
| IL7R | IL7 | psi-mi:“MI:0915”(physical association) | 0.740 |
| CAMKV | AP3B1 | psi-mi:“MI:0914”(association) | 0.640 |
| VAMP5 | IL7R | psi-mi:“MI:0915”(physical association) | 0.560 |
| TMEM60 | IL7R | psi-mi:“MI:0915”(physical association) | 0.560 |
| CD302 | IL7R | psi-mi:“MI:0915”(physical association) | 0.560 |
| FAM3C | IL7R | psi-mi:“MI:0915”(physical association) | 0.560 |
| ATP6V0C | IL7R | psi-mi:“MI:0915”(physical association) | 0.560 |
| IL7R | TMEM60 | psi-mi:“MI:0915”(physical association) | 0.560 |
| IL7R | CD302 | psi-mi:“MI:0915”(physical association) | 0.560 |
| IL7R | FAM3C | psi-mi:“MI:0915”(physical association) | 0.560 |
| IL7R | ATP6V0C | psi-mi:“MI:0915”(physical association) | 0.560 |
| TMEM120B | IL7R | psi-mi:“MI:0915”(physical association) | 0.560 |
| IL7R | MALL | psi-mi:“MI:0915”(physical association) | 0.560 |
| IL7R | AGTRAP | psi-mi:“MI:0915”(physical association) | 0.560 |
| MS4A1 | IL7R | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (134): CISH (Affinity Capture-Western), IL7R (Affinity Capture-Western), CISH (Affinity Capture-Western), SOCS1 (Affinity Capture-Western), SOCS2 (Affinity Capture-Western), PIK3R1 (Affinity Capture-Western), IL7R (Two-hybrid), IL7R (Two-hybrid), IL7R (Two-hybrid), IL7R (Two-hybrid), AGTRAP (Two-hybrid), TMEM120B (Two-hybrid), IL7R (Affinity Capture-Western), IL7R (Proximity Label-MS), FYN (Affinity Capture-Western)
ESM2 similar proteins: A0MSX9, A5HJM1, C8AW46, C8AW47, K9JA28, O02671, O35664, O46561, O70458, P05710, P14787, P15260, P15261, P16297, P16471, P16871, P16872, P16882, P26896, P48356, P48357, P48551, P97378, Q08501, Q13651, Q28172, Q28235, Q38IC7, Q38J85, Q3SYS8, Q4W815, Q5VWK5, Q61727, Q62959, Q63257, Q65Z14, Q6JTA8, Q6PHB0, Q80VH0, Q80XZ4
Diamond homologs: A0MSX9, A5HJM1, P16871, P16872, Q38IC7
SIGNOR signaling
5 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| IL7 | up-regulates | IL7R | binding |
| IL7R | up-regulates | JAK1 | binding |
| NOTCH1 | “up-regulates quantity by expression” | IL7R | “transcriptional regulation” |
| NOTCH | “up-regulates quantity by expression” | IL7R | “transcriptional regulation” |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 29 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Diseases of signal transduction by growth factor receptors and second messengers | 5 | 14.9× | 5e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| negative regulation of apoptotic process | 6 | 8.0× | 5e-03 |
Disease & clinical
Cancer significance
From intOGen — cancer-driver classification: activating (oncogene-like) across 4 cancer types — ALL, ESCA, HCC, STAD.
Clinical variants and AI predictions
ClinVar
605 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 46 |
| Likely pathogenic | 15 |
| Uncertain significance | 212 |
| Likely benign | 231 |
| Benign | 66 |
Top pathogenic / likely-pathogenic (30)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1073963 | NC_000005.9:g.(?35857060)(35857181_?)del | Pathogenic |
| 1298987 | NM_002185.5(IL7R):c.616C>T (p.Arg206Ter) | Pathogenic |
| 1339483 | NM_002185.5(IL7R):c.379G>A (p.Val127Ile) | Pathogenic |
| 134528 | NM_002185.5(IL7R):c.662G>T (p.Ser221Ile) | Pathogenic |
| 1437489 | NM_002185.5(IL7R):c.514del (p.Glu172fs) | Pathogenic |
| 1453790 | NM_002185.5(IL7R):c.37del (p.Ser13fs) | Pathogenic |
| 1465004 | NM_002185.5(IL7R):c.126C>G (p.Cys42Trp) | Pathogenic |
| 14841 | NM_002185.5(IL7R):c.538-1G>A | Pathogenic |
| 14842 | NM_002185.5(IL7R):c.651G>A (p.Trp217Ter) | Pathogenic |
| 1706622 | NM_002185.5(IL7R):c.470del (p.Lys157fs) | Pathogenic |
| 208851 | NM_002185.5(IL7R):c.333T>A (p.Val111=) | Pathogenic |
| 2203628 | NM_002185.5(IL7R):c.562del (p.Lys187_Leu188insTer) | Pathogenic |
| 224841 | NM_002185.5(IL7R):c.361dup (p.Ile121fs) | Pathogenic |
| 224842 | Single allele | Pathogenic |
| 265195 | NM_002185.5(IL7R):c.221+2T>G | Pathogenic |
| 2697973 | NM_002185.5(IL7R):c.639_640insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCCCTGATCACTATTTT (p.Lys214delinsPhePhePhePhePhePheXaaXaaXaaXaaTer) | Pathogenic |
| 2708090 | NM_002185.5(IL7R):c.190_193dup (p.Asn65fs) | Pathogenic |
| 2734712 | NM_002185.5(IL7R):c.76C>T (p.Gln26Ter) | Pathogenic |
| 2734713 | NM_002185.5(IL7R):c.177del (p.Phe59fs) | Pathogenic |
| 2734714 | NM_002185.5(IL7R):c.493del (p.His165fs) | Pathogenic |
| 2734715 | NM_002185.5(IL7R):c.589_598del (p.Pro197fs) | Pathogenic |
| 2763597 | NM_002185.5(IL7R):c.80del (p.Asn27fs) | Pathogenic |
| 2780052 | NM_002185.5(IL7R):c.623del (p.Ile208fs) | Pathogenic |
| 2789689 | NM_002185.5(IL7R):c.538-2A>G | Pathogenic |
| 2982246 | NM_002185.5(IL7R):c.752del (p.Phe251fs) | Pathogenic |
| 3068274 | NM_002185.5(IL7R):c.860del (p.Cys287fs) | Pathogenic |
| 3246329 | NC_000005.9:g.(?35860934)(35861112_?)del | Pathogenic |
| 3246330 | NC_000005.9:g.(?35873562)(35876588_?)del | Pathogenic |
| 353259 | NM_002185.5(IL7R):c.83-2A>T | Pathogenic |
| 36392 | NM_002185.5(IL7R):c.353G>A (p.Cys118Tyr) | Pathogenic |
SpliceAI
1270 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 5:35860850:A:AG | acceptor_gain | 1.0000 |
| 5:35860851:G:GG | acceptor_gain | 1.0000 |
| 5:35860851:GGA:G | acceptor_gain | 1.0000 |
| 5:35860977:G:GT | donor_gain | 1.0000 |
| 5:35867304:A:AG | acceptor_gain | 1.0000 |
| 5:35867304:AGT:A | acceptor_gain | 1.0000 |
| 5:35867304:AGTG:A | acceptor_gain | 1.0000 |
| 5:35867304:AGTGG:A | acceptor_gain | 1.0000 |
| 5:35867305:G:GG | acceptor_gain | 1.0000 |
| 5:35867305:GTG:G | acceptor_gain | 1.0000 |
| 5:35867305:GTGG:G | acceptor_gain | 1.0000 |
| 5:35867305:GTGGG:G | acceptor_gain | 1.0000 |
| 5:35871051:TCCA:T | acceptor_loss | 1.0000 |
| 5:35871052:CCAG:C | acceptor_loss | 1.0000 |
| 5:35871054:A:AG | acceptor_gain | 1.0000 |
| 5:35871054:A:T | acceptor_loss | 1.0000 |
| 5:35871055:G:GA | acceptor_gain | 1.0000 |
| 5:35871055:GT:G | acceptor_gain | 1.0000 |
| 5:35871055:GTT:G | acceptor_gain | 1.0000 |
| 5:35871055:GTTA:G | acceptor_gain | 1.0000 |
| 5:35871055:GTTAA:G | acceptor_gain | 1.0000 |
| 5:35871147:G:GT | donor_gain | 1.0000 |
| 5:35871147:GAA:G | donor_gain | 1.0000 |
| 5:35871150:G:GG | donor_gain | 1.0000 |
| 5:35875583:GAAAA:G | donor_gain | 1.0000 |
| 5:35875588:G:GG | donor_gain | 1.0000 |
| 5:35876163:G:GT | donor_gain | 1.0000 |
| 5:35860849:CA:C | acceptor_loss | 0.9900 |
| 5:35860850:A:C | acceptor_loss | 0.9900 |
| 5:35860850:AG:A | acceptor_gain | 0.9900 |
AlphaMissense
3037 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 5:35873559:G:C | R206P | 0.999 |
| 5:35873600:T:A | W220R | 0.998 |
| 5:35873600:T:C | W220R | 0.998 |
| 5:35873602:G:C | W220C | 0.998 |
| 5:35873602:G:T | W220C | 0.998 |
| 5:35873561:T:C | S207P | 0.997 |
| 5:35873603:A:C | S221R | 0.997 |
| 5:35873605:T:A | S221R | 0.997 |
| 5:35873605:T:G | S221R | 0.997 |
| 5:35873594:A:C | S218R | 0.995 |
| 5:35873596:T:A | S218R | 0.995 |
| 5:35873596:T:G | S218R | 0.995 |
| 5:35860899:A:C | S44R | 0.993 |
| 5:35860901:C:A | S44R | 0.993 |
| 5:35860901:C:G | S44R | 0.993 |
| 5:35871056:T:A | V127D | 0.993 |
| 5:35871124:T:C | F150L | 0.993 |
| 5:35871126:T:A | F150L | 0.993 |
| 5:35871126:T:G | F150L | 0.993 |
| 5:35873585:G:C | G215R | 0.993 |
| 5:35860933:T:C | L55P | 0.992 |
| 5:35860938:T:C | C57R | 0.992 |
| 5:35873556:T:A | V205D | 0.992 |
| 5:35860893:T:C | C42R | 0.991 |
| 5:35873595:G:T | S218I | 0.991 |
| 5:35871071:C:A | P132H | 0.990 |
| 5:35871181:T:G | Y169D | 0.990 |
| 5:35860938:T:A | C57S | 0.989 |
| 5:35860939:G:C | C57S | 0.989 |
| 5:35871178:G:C | A168P | 0.989 |
dbSNP variants (sampled 300 via entrez): RS1000047499 (5:35866630 T>A), RS1000140927 (5:35878629 A>C), RS1000195413 (5:35860207 G>A), RS1000207637 (5:35874490 T>A,G), RS1000269004 (5:35878833 TGAA>T), RS1000417037 (5:35866437 C>A,G), RS1000471252 (5:35863284 G>C), RS1000812835 (5:35873335 G>A), RS1000888959 (5:35870679 T>C), RS1001067467 (5:35875819 G>A), RS1001075840 (5:35861666 G>A), RS1001167284 (5:35876899 C>T), RS1001175902 (5:35855853 A>C,G,T), RS1001191563 (5:35862966 C>T), RS1001215074 (5:35877051 G>T)
Disease associations
OMIM: gene MIM:146661 | disease phenotypes: MIM:608971, MIM:612595, MIM:254500, MIM:603554
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| immunodeficiency 104 | Definitive | Autosomal recessive |
| T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency | Supportive | Autosomal recessive |
| Omenn syndrome | Supportive | Autosomal recessive |
ClinGen Gene-Disease Validity (1)
Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.
| Disease | Classification | Inheritance |
|---|---|---|
| immunodeficiency 104 | Definitive | AR |
Mondo (7): immunodeficiency 104 (MONDO:0012163), T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency (MONDO:0015701), severe combined immunodeficiency (MONDO:0015974), breast neoplasm (MONDO:0021100), multiple sclerosis, susceptibility to, 3 (MONDO:0012957), plasma cell myeloma (MONDO:0009693), Omenn syndrome (MONDO:0011338)
Orphanet (5): T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency (Orphanet:169154), Severe combined immunodeficiency (Orphanet:183660), Multiple myeloma (Orphanet:29073), AL amyloidosis (Orphanet:85443), Omenn syndrome (Orphanet:39041)
HPO phenotypes
59 total (30 of 59 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000100 | Nephrotic syndrome |
| HP:0000155 | Oral ulcer |
| HP:0000388 | Otitis media |
| HP:0000403 | Recurrent otitis media |
| HP:0000821 | Hypothyroidism |
| HP:0000944 | Abnormal metaphysis morphology |
| HP:0000958 | Dry skin |
| HP:0000964 | Eczematoid dermatitis |
| HP:0000969 | Edema |
| HP:0000989 | Pruritus |
| HP:0001019 | Erythroderma |
| HP:0001072 | Thickened skin |
| HP:0001433 | Hepatosplenomegaly |
| HP:0001508 | Failure to thrive |
| HP:0001596 | Alopecia |
| HP:0001744 | Splenomegaly |
| HP:0001831 | Short toe |
| HP:0001875 | Decreased total neutrophil count |
| HP:0001880 | Increased total eosinophil count |
| HP:0001888 | Decreased total lymphocyte count |
| HP:0001903 | Anemia |
| HP:0001945 | Fever |
| HP:0001973 | Autoimmune thrombocytopenia |
| HP:0001974 | Increased total leukocyte count |
| HP:0002014 | Diarrhea |
| HP:0002020 | Gastroesophageal reflux |
| HP:0002028 | Chronic diarrhea |
| HP:0002090 | Pneumonia |
| HP:0002240 | Hepatomegaly |
GWAS associations
43 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000038_8 | Type 1 diabetes | 8.000000e-06 |
| GCST000062_6 | Multiple sclerosis | 3.000000e-07 |
| GCST000424_9 | Multiple sclerosis | 2.000000e-06 |
| GCST000949_1 | Multiple sclerosis | 4.000000e-07 |
| GCST000964_43 | Ulcerative colitis | 4.000000e-08 |
| GCST001010_2 | Primary biliary cholangitis | 1.000000e-11 |
| GCST001198_25 | Multiple sclerosis | 2.000000e-08 |
| GCST001685_1 | Primary biliary cholangitis | 4.000000e-08 |
| GCST003129_22 | Primary biliary cholangitis | 5.000000e-11 |
| GCST003184_13 | Atopic dermatitis | 2.000000e-10 |
| GCST003184_5 | Atopic dermatitis | 3.000000e-14 |
| GCST004145_4 | Primary biliary cholangitis | 6.000000e-09 |
| GCST004627_62 | Lymphocyte count | 2.000000e-43 |
| GCST004632_111 | Lymphocyte percentage of white cells | 3.000000e-29 |
| GCST004633_53 | Neutrophil percentage of white cells | 2.000000e-19 |
| GCST005038_42 | Allergic disease (asthma, hay fever or eczema) | 9.000000e-36 |
| GCST005529_10 | Ankylosing spondylitis | 5.000000e-07 |
| GCST005529_67 | Ankylosing spondylitis | 2.000000e-06 |
| GCST005531_115 | Multiple sclerosis | 4.000000e-17 |
| GCST005536_13 | Type 1 diabetes | 4.000000e-08 |
| GCST005581_3 | Primary biliary cirrhosis | 2.000000e-13 |
| GCST006409_29 | Allergic rhinitis | 4.000000e-32 |
| GCST006585_1306 | Blood protein levels | 1.000000e-18 |
| GCST007036_3 | Primary biliary cholangitis | 2.000000e-09 |
| GCST007563_11 | Allergic disease (asthma, hay fever or eczema) | 3.000000e-15 |
| GCST007564_36 | Asthma or allergic disease (pleiotropy) | 2.000000e-14 |
| GCST007798_69 | Asthma | 2.000000e-13 |
| GCST007799_44 | Asthma (adult onset) | 9.000000e-14 |
| GCST007941_39 | Medication use (adrenergics, inhalants) | 9.000000e-10 |
| GCST008916_32 | Asthma | 1.000000e-10 |
EFO canonical traits (8, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004267 | biliary liver cirrhosis |
| EFO:0004587 | lymphocyte count |
| EFO:0007993 | lymphocyte percentage of leukocytes |
| EFO:0007990 | neutrophil percentage of leukocytes |
| EFO:1002011 | adult onset asthma |
| EFO:0009941 | Inhalant adrenergic use measurement |
| EFO:0007992 | basophil percentage of leukocytes |
| EFO:0007989 | monocyte percentage of leukocytes |
MeSH disease descriptors (4)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D001943 | Breast Neoplasms | C04.588.180; C17.800.090.500 |
| D009101 | Multiple Myeloma | C04.557.595.500; C14.907.454.460; C15.378.147.780.650; C15.378.463.515.460; C20.683.515.845; C20.683.780.650 |
| D016511 | Severe Combined Immunodeficiency | C16.320.798.750; C16.614.815; C18.452.284.800; C20.673.795.750 |
| C563822 | Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB variants
1 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs6897932 | IL7R | 0.00 | 0 |
GtoPdb / IUPHAR curated pharmacology
(IUPHAR/BPS Guide to Pharmacology — expert-curated)
Target class: catalytic receptor — IL-2 receptor family
Most potent curated ligand interactions (2 total), top 2:
| Ligand | Action | Affinity | Parameter |
|---|---|---|---|
| lusvertikimab | Antagonist | 11.4 | pEC50 |
| bempikibart | Binding | 9.0 | pEC50 |
CTD chemical–gene interactions
88 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| (+)-JQ1 compound | decreases reaction, decreases expression, increases expression, affects binding | 8 |
| sodium arsenite | decreases expression, affects cotreatment, increases abundance, increases expression, affects methylation | 6 |
| bisphenol A | decreases expression, decreases methylation, increases expression | 3 |
| Estradiol | affects expression, affects cotreatment, increases expression | 3 |
| potassium chromate(VI) | decreases expression, increases expression, affects cotreatment | 2 |
| nickel sulfate | increases expression | 2 |
| Bortezomib | increases expression, increases response to substance | 2 |
| Arsenic | increases abundance, increases expression, affects expression, affects cotreatment | 2 |
| Benzo(a)pyrene | decreases expression, increases expression | 2 |
| Calcitriol | decreases expression | 2 |
| Copper | increases expression, affects binding, decreases expression | 2 |
| Nickel | increases expression | 2 |
| Dronabinol | increases expression, decreases reaction | 2 |
| Cadmium Chloride | increases expression | 2 |
| Nanotubes, Carbon | increases expression | 2 |
| Glupearl 19S | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| propionaldehyde | increases expression | 1 |
| captax | increases expression | 1 |
| geraniol | increases expression | 1 |
| lead acetate | decreases expression | 1 |
| trichostatin A | increases expression | 1 |
| cinnamaldehyde | increases expression | 1 |
| arsenite | affects binding, decreases reaction | 1 |
| afimoxifene | increases expression | 1 |
| butyraldehyde | increases expression | 1 |
| perfluorooctanoic acid | decreases expression | 1 |
| manganese chloride | increases abundance, increases expression, affects cotreatment | 1 |
| cobalt sulfate | increases expression | 1 |
| 4-hydroxy-2-nonenal | decreases expression | 1 |
Cellosaurus cell lines
6 cell lines: 4 cancer cell line, 2 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B8II | Abcam HCT 116 IL7R KO | Cancer cell line | Male |
| CVCL_B8XG | Abcam MCF-7 IL7R KO | Cancer cell line | Female |
| CVCL_B9KS | Abcam A-549 IL7R KO | Cancer cell line | Male |
| CVCL_D9H7 | Ubigene HEK293 IL7R KO | Transformed cell line | Female |
| CVCL_E0F7 | Ubigene HeLa IL7R KO | Cancer cell line | Female |
| CVCL_E8EI | HEK-Blue IL-7 | Transformed cell line | Female |
Clinical trials (associated diseases)
301 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00092183 | PHASE4 | COMPLETED | An Investigational Drug for the Prevention of Chemotherapy-Induced Nausea and Vomiting (MK-0869-071) |
| NCT00128778 | PHASE4 | COMPLETED | Maintenance Treatment With Liposomal Doxorubicin (Caelyx) in Metastatic Breast Cancer Patients |
| NCT00302120 | PHASE4 | UNKNOWN | The MONET - Study: MR Mammography of Nonpalpable Breast Tumors |
| NCT00307606 | PHASE4 | UNKNOWN | Does a Single Steroid Injection Reduce the Formation of Postmastectomy Seroma |
| NCT00370240 | PHASE4 | COMPLETED | Chlorhydrate of Ropivacaine and Breast Cancer Surgery |
| NCT00375752 | PHASE4 | TERMINATED | Efficacy and Safety of Letrozole vs. Letrozole Plus Zoledronic Acid as Endocrine Therapy Before Surgery in Postmenopausal Patients With Breast Cancer |
| NCT00575354 | PHASE4 | COMPLETED | Comparison of Sevoflurane and Isoflurane Anesthesia for Benign Breast Tumor Excision |
| NCT00604968 | PHASE4 | TERMINATED | Pegylated Liposomal Doxorubicin (Caelyx(R)) as Monotherapy in Elderly Patients With Locally Advanced and/or Metastatic Breast Cancer (Study P05059) |
| NCT00616135 | PHASE4 | COMPLETED | Study of Autologous Fat Enhanced w/ Regenerative Cells Transplanted to Reconstruct Breast Deformities After Lumpectomy |
| NCT00649090 | PHASE4 | COMPLETED | A Study to Evaluate the Safety of Adjuvant Treatment With Exemestane Following Previous Treatment With Tamoxifen in Postmenopausal Women With Estrogen Sensitive Primary Breast Cancer |
| NCT00779285 | PHASE4 | TERMINATED | Safety Study of CAELYX in Patients With Metastatic Breast Cancer Previously Treated With Anthracyclines (Study P04057)(TERMINATED) |
| NCT01176916 | PHASE4 | COMPLETED | Aromasin® Interventional Study Of Early Invasive Breast Cancer Patients In China |
| NCT01427400 | PHASE4 | UNKNOWN | The Use of Botulinum Toxin A in Two-Stage Tissue Expander/ Implant Breast Reconstruction |
| NCT01849380 | PHASE4 | UNKNOWN | Neoadjuvant ECS Versus ECF in Local Advanced Breast Cancer |
| NCT01859936 | PHASE4 | COMPLETED | Will Preoperative MRI Breast in Women Under 56 Years With Breast Cancer Change Primary Treatment |
| NCT01948960 | PHASE4 | COMPLETED | Influence of Exceptional Patient Characteristics on Everolimus Exposure |
| NCT01961544 | PHASE4 | COMPLETED | Eribulin Mesylate Phase IV Clinical Trial in Korean Patients With Metastatic or Locally Advanced Breast Cancer |
| NCT01975064 | PHASE4 | COMPLETED | Cancer and Anesthesia: Survival After Radical Surgery - a Comparison Between Propofol or Sevoflurane Anesthesia |
| NCT02004834 | PHASE4 | ACTIVE_NOT_RECRUITING | Levobupivacaine and Lidocaine for Paravertebral Block Causes Greater Hemodynamic Oscillations Than Levobupivacaine |
| NCT02372305 | PHASE4 | WITHDRAWN | Comparison of FlexHD and Alloderm Outcomes in Breast Reconstructive Surgery |
| NCT02479347 | PHASE4 | COMPLETED | Wound Infections in Breast Cancer Surgery After Preoperative Skin Preparation With Chlorhexidine vs. Povidone-iodine |
| NCT02549677 | PHASE4 | COMPLETED | Epirubicin Versus Docetaxel Plus Cyclophosphamide in Lymph Node Negative, ER-positive, Her2-negative Breast Cancer |
| NCT02612870 | PHASE4 | UNKNOWN | Sienna+® Injection Time Study 4 Arms |
| NCT02627560 | PHASE4 | COMPLETED | The Effect of Topical Tranexamic Acid on Bleeding and Seroma Formation in After Undergoing Mastectomy |
| NCT02661932 | PHASE4 | COMPLETED | Fertility Preservation in Breast Cancer Patients |
| NCT02781259 | PHASE4 | UNKNOWN | Selective Lymph Node Dissection Using Fluorescent Dye in Node-positive Breast Cancer |
| NCT02819921 | PHASE4 | TERMINATED | Desvenlafaxine for Treatment of Hot Flashes in Women With Breast Cancer Taking Tamoxifen |
| NCT03220178 | PHASE4 | TERMINATED | Impact of eHealth-support on Quality of Life in Metastatic Breast Cancer Patients Treated With Palbociclib and Endocrine Therapy |
| NCT03583944 | PHASE4 | COMPLETED | A Study to Evaluate Safety, Tolerability and Efficacy of Eribulin Mesylate in Treating Adult Females With Locally Advanced or Metastatic Breast Cancer |
| NCT03586154 | PHASE4 | COMPLETED | Combined Intra-articular Shoulder Injection and Stellate Ganglion Block in Chronic Post-mastectomy Shoulder Pain |
| NCT04707196 | PHASE4 | COMPLETED | A Study of Abemaciclib in Indian Women With Advanced Breast Cancer |
| NCT04931615 | PHASE4 | COMPLETED | ARTISS a Single-centre Randomised Control Study |
| NCT05033769 | PHASE4 | UNKNOWN | Assessing ImmunoResponse Post Eribulin: Eribulin and Immunogenicity in Advanced Breast Cancer |
| NCT05036005 | PHASE4 | UNKNOWN | Neoadjuvant Ontruzant (SB3) in Patients With HER2-positive Early Breast Cancer: An Open-Label (NeoON) |
| NCT05452213 | PHASE4 | RECRUITING | Comprehensive Analysis of Spatial, Temporal and Molecular Patterns of Ribociclib Efficacy and Resistance in Advanced Breast Cancer Patients |
| NCT05465031 | PHASE4 | RECRUITING | Sacubitril/Valsartan in PriMAry preventIoN of the Cardiotoxicity of Systematic breaST canceR trEAtMent (MAINSTREAM) |
| NCT05949333 | PHASE4 | UNKNOWN | Reducing Neutropenia Incidence With Pegfilgrastim Administration on Day 3 After Chemotherapy |
| NCT07158164 | PHASE4 | RECRUITING | DPYD Pharmacogenomics and Fluoropyrimidine (FP) Dose-Adjustment |
| NCT07162259 | PHASE4 | NOT_YET_RECRUITING | Cohort Study on Sequential ADC Therapy in HR-positive/HER2-negative Advanced Breast Cancer |
| NCT00220766 | PHASE3 | COMPLETED | Rapid Infusion of Immune Globulin Intravenous (Human) In Primary Immunodeficiency Patients |
Related Atlas pages
- Associated diseases: immunodeficiency 104, T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency, Omenn syndrome
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): breast neoplasm, immunodeficiency 104, multiple sclerosis, susceptibility to, 3, Omenn syndrome, severe combined immunodeficiency, T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency