IL9R
gene geneOn this page
Also known as CD129
Summary
IL9R (interleukin 9 receptor, HGNC:6030) is a protein-coding gene on chromosome Xq28 and Yq12, encoding Interleukin-9 receptor (Q01113). Plays an important role in the immune response against parasites by acting as a receptor of IL9.
The protein encoded by this gene is a cytokine receptor that specifically mediates the biological effects of interleukin 9 (IL9). The functional IL9 receptor complex requires this protein as well as the interleukin 2 receptor, gamma (IL2RG), a common gamma subunit shared by the receptors of many different cytokines. The ligand binding of this receptor leads to the activation of various JAK kinases and STAT proteins, which connect to different biologic responses. This gene is located at the pseudoautosomal regions of X and Y chromosomes. Genetic studies suggested an association of this gene with the development of asthma. Multiple pseudogenes on chromosome 9, 10, 16, and 18 have been described. Alternatively spliced transcript variants have been found for this gene.
Source: NCBI Gene 3581 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 101 total — 2 pathogenic
- MANE Select transcript:
NM_002186
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:6030 |
| Approved symbol | IL9R |
| Name | interleukin 9 receptor |
| Location | Xq28 and Yq12 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | CD129 |
| Ensembl gene | ENSG00000124334 |
| Ensembl biotype | protein_coding |
| OMIM | 300007 |
| Entrez | 3581 |
Gene structure
Transcript identifiers
Ensembl transcripts: 5 — 3 protein_coding, 2 protein_coding_CDS_not_defined
ENST00000244174, ENST00000369423, ENST00000489233, ENST00000494962, ENST00000858259
RefSeq mRNA: 2 — MANE Select: NM_002186
NM_002186, NM_176786
CCDS: CCDS14771, CCDS59180
Canonical transcript exons
ENST00000244174 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000846398 | 156004420 | 156004565 |
| ENSE00001325991 | 156002906 | 156003019 |
| ENSE00001614034 | 156009816 | 156010817 |
| ENSE00001637342 | 156006083 | 156006188 |
| ENSE00001741000 | 156005278 | 156005479 |
| ENSE00001742205 | 156003449 | 156003560 |
| ENSE00001800113 | 156003677 | 156003855 |
| ENSE00003659134 | 156007523 | 156007607 |
| ENSE00003693591 | 155997696 | 155997787 |
Expression profiles
Bgee: expression breadth ubiquitous, 128 present calls, max score 78.51.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.1992 / max 235.9477, expressed in 14 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 198224 | 0.1057 | 8 |
| 198225 | 0.0445 | 10 |
| 198223 | 0.0319 | 6 |
| 198226 | 0.0171 | 4 |
Top tissues by expression
148 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 78.51 | gold quality |
| lymph node | UBERON:0000029 | 74.21 | gold quality |
| granulocyte | CL:0000094 | 72.68 | gold quality |
| vermiform appendix | UBERON:0001154 | 72.15 | gold quality |
| thymus | UBERON:0002370 | 71.21 | silver quality |
| lower esophagus mucosa | UBERON:0035834 | 71.20 | gold quality |
| spleen | UBERON:0002106 | 70.71 | gold quality |
| right uterine tube | UBERON:0001302 | 69.71 | gold quality |
| rectum | UBERON:0001052 | 68.99 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 68.46 | gold quality |
| urinary bladder | UBERON:0001255 | 68.33 | gold quality |
| blood | UBERON:0000178 | 67.84 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 67.71 | gold quality |
| gall bladder | UBERON:0002110 | 67.47 | gold quality |
| small intestine | UBERON:0002108 | 67.41 | gold quality |
| tonsil | UBERON:0002372 | 64.79 | gold quality |
| leukocyte | CL:0000738 | 62.31 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 61.49 | gold quality |
| monocyte | CL:0000576 | 61.37 | gold quality |
| right lung | UBERON:0002167 | 61.36 | gold quality |
| colonic epithelium | UBERON:0000397 | 60.91 | gold quality |
| esophagus mucosa | UBERON:0002469 | 60.50 | gold quality |
| transverse colon | UBERON:0001157 | 59.98 | gold quality |
| vastus lateralis | UBERON:0001379 | 59.82 | gold quality |
| quadriceps femoris | UBERON:0001377 | 59.78 | gold quality |
| lung | UBERON:0002048 | 58.78 | gold quality |
| bone marrow | UBERON:0002371 | 58.72 | gold quality |
| intestine | UBERON:0000160 | 58.48 | gold quality |
| epithelium of bronchus | UBERON:0002031 | 58.19 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 58.05 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-84 | yes | 259.71 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
18 targeting IL9R, 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-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-124-3P | 99.89 | 73.74 | 3043 |
| HSA-MIR-506-3P | 99.89 | 73.55 | 3057 |
| HSA-MIR-7845-5P | 99.88 | 64.88 | 771 |
| HSA-MIR-4441 | 99.49 | 66.56 | 3216 |
| HSA-MIR-7160-5P | 99.11 | 67.17 | 2207 |
| HSA-MIR-4270 | 99.02 | 66.26 | 1987 |
| HSA-MIR-455-3P | 98.94 | 67.68 | 878 |
| HSA-MIR-6754-5P | 98.60 | 65.54 | 1627 |
| HSA-MIR-323A-5P | 98.59 | 65.13 | 651 |
| HSA-MIR-211-3P | 98.14 | 66.77 | 1052 |
| HSA-MIR-3085-5P | 97.72 | 65.43 | 544 |
| HSA-MIR-4475 | 97.36 | 66.95 | 761 |
| HSA-MIR-4286 | 97.20 | 64.37 | 1587 |
| HSA-MIR-216B-5P | 97.16 | 66.76 | 1126 |
| HSA-MIR-517-5P | 97.13 | 68.43 | 781 |
| HSA-MIR-6851-3P | 95.73 | 65.11 | 688 |
| HSA-MIR-6769A-3P | 94.91 | 61.36 | 412 |
Literature-anchored findings (GeneRIF, showing 23)
- Human bronchial epithelium expresses interleukin-9 receptors. (PMID:11868823)
- variations in the IL9R gene may influence susceptibility to childhood wheezing and atopy, and data support the notion that different haplotypes may have sex specific influences (PMID:15591265)
- IL-9 and its receptor have roles in cell growth and malignant transformation of lymphoid cells associated with constitutive activation of the Jak/STAT pathway [review] (PMID:15621723)
- Variants in the IL4RA gene alone may not exert any major influence on susceptibility to asthma-related diseases in childhood, but in combination with other genes, such as IL9R, IL4RA may be an important gene for disease susceptibility (PMID:17083349)
- IL-9R alpha was expressed on human tonsillar B cells, with an ability to transduce signals through activation of signal transducer and activator of transcription 3 and 5. (PMID:17919707)
- primary ATL cells, via IL-9, support the action of IL-9Ralpha/CD14-expressing monocytes, which subsequently support the ex vivo spontaneous proliferation of malignant T cells (PMID:18339896)
- the preformed complexes between gamma c and IL-2Rbeta or IL-9Ralpha promote signaling by the JAK3 A572V mutant without ligand, identified in several human cancers. (PMID:18829468)
- IL-9Ralpha and IL-2Rbeta homodimers efficiently mediate constitutive activation of ALL-associated JAK1 mutants. (PMID:19139102)
- These results reveal a regulatory function for IFN-gamma and IL-10 on modulating the inducible IL-9Ralpha expression levels on peripheral blood neutrophils by T(H)2 cytokines. (PMID:19401191)
- There is an association of at least 2 X-chromosomal genes with rheumatoid arthritis: TIMP1 and IL9R. (PMID:19723899)
- analysis of IL-9 and IL-9 receptor gene polymorphisms and atopic dermatitis in a Korean population (PMID:21371865)
- One of the identified peptide sequences corresponded to a fragment of the human interleukin-9 receptor alpha (IL-9Ralpha). (PMID:22638550)
- Our findings suggest that overexpression of IL-9R may contribute to the pathogenesis of diffuse large B-cell lymphoma (PMID:23638223)
- Mice with PU.1 deficiency in T cells were protected from colitis, whereas treatment with antibody to IL-9 suppressed colitis (PMID:24908389)
- Confocal microscopy and fluorescence resonance energy transfer experiments revealed nonrandom association of IL-9R with IL-2R/major histocompatibility complex glycoproteins at the surface of human T lymphoma cells. (PMID:25297818)
- Low expression of CD39(+) /CD45RA(+) on regulatory T cells (Treg ) cells in type 1 diabetic children in contrast to high expression of CD101(+) /CD129(+) on Treg cells in children with coeliac disease. (PMID:25421756)
- The findings indicated that IL-9R was constitutively expressed and exerted a tumor-promoting effect in hepatocellular carcinoma, whose expression level may be a useful biomarker of tumor invasiveness and patient clinical outcome. (PMID:26082242)
- Results show that silencing of the IL-9R gene alleviates the drug resistance of diffuse large B-cell lymphoma (DLBCL) cell lines that is induced by IL-9 suggesting that IL-9R is involved in chemotherapy drug resistance of DLBCL. (PMID:27364124)
- in PsA patients gammadelta T cells activation is driven prevalently by IL-9/IL-9R interaction, and not only by IL-23/IL-23R. Together these findings indicate gammadelta T cells and IL-9 as new players in the pathogenesis of PsA. (PMID:27543964)
- Thus the IL-9/IL-9R system is a new contributing factor in the cytokine network of psoriatic arthritis and rheumatoid arthritis. (PMID:30114630)
- Decreased placental IL9 and IL9R in preeclampsia impair trophoblast cell proliferation, invasion, and angiogenesis. (PMID:32329646)
- IL-9R Loss in Type 2 Innate Lymphoid Cells Reflects Treg Impairment in Patients With Mastocytosis. (PMID:35416152)
- IL-9 and IL-9 receptor expression in lymphocytes from bronchoalveolar lavage fluid of patients with interstitial lung disease. (PMID:35998415)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | mpl | ENSDARG00000039222 |
| mus_musculus | Il9r | ENSMUSG00000020279 |
| rattus_norvegicus | Il9r | ENSRNOG00000020630 |
Paralogs (7): IL4R (ENSG00000077238), CSF2RB (ENSG00000100368), IL2RB (ENSG00000100385), IL21R (ENSG00000103522), MPL (ENSG00000117400), IL7R (ENSG00000168685), EPOR (ENSG00000187266)
Protein
Protein identifiers
Interleukin-9 receptor — Q01113 (reviewed: Q01113)
All UniProt accessions (1): Q01113
UniProt curated annotations — full annotation on UniProt →
Function. Plays an important role in the immune response against parasites by acting as a receptor of IL9.
Subunit / interactions. Interacts with IL9.
Subcellular location. Cell membrane. Secreted.
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.
Miscellaneous. The gene coding for this protein is located in the pseudoautosomal region 2 (PAR2) of X and Y chromosomes.
Similarity. Belongs to the type I cytokine receptor family. Type 4 subfamily.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q01113-1 | 1 | yes |
| Q01113-2 | 2 | |
| Q01113-3 | 3 |
RefSeq proteins (2): NP_002177, NP_789743 (=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 |
UniProt features (45 total): strand 15, helix 6, splice variant 5, sequence variant 5, glycosylation site 2, topological domain 2, short sequence motif 2, signal peptide 1, chain 1, sequence conflict 1, turn 1, transmembrane region 1, domain 1, region of interest 1, compositionally biased region 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7OX5 | X-RAY DIFFRACTION | 3.09 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q01113-F1 | 64.30 | 0.29 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Glycosylation sites (2): 117, 156
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-8985947 | Interleukin-9 signaling |
MSigDB gene sets: 116 (showing top):
BROWNE_HCMV_INFECTION_30MIN_DN, REACTOME_INTERLEUKIN_2_FAMILY_SIGNALING, REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, GOBP_RESPONSE_TO_PEPTIDE, GOCC_CELL_SURFACE, GOBP_LEUKOCYTE_MEDIATED_IMMUNITY, GOBP_B_CELL_MEDIATED_IMMUNITY, TONKS_TARGETS_OF_RUNX1_RUNX1T1_FUSION_ERYTHROCYTE_DN, GTGCCTT_MIR506, GOBP_LYMPHOCYTE_MEDIATED_IMMUNITY, GOBP_ADAPTIVE_IMMUNE_RESPONSE, GOBP_IMMUNE_EFFECTOR_PROCESS, GOBP_ADAPTIVE_IMMUNE_RESPONSE_BASED_ON_SOMATIC_RECOMBINATION_OF_IMMUNE_RECEPTORS_BUILT_FROM_IMMUNOGLOBULIN_SUPERFAMILY_DOMAINS, YAGI_AML_WITH_11Q23_REARRANGED, KEGG_JAK_STAT_SIGNALING_PATHWAY
GO Biological Process (5): signal transduction (GO:0007165), immunoglobulin mediated immune response (GO:0016064), interleukin-9-mediated signaling pathway (GO:0038113), regulation of cell population proliferation (GO:0042127), cytokine-mediated signaling pathway (GO:0019221)
GO Molecular Function (4): interleukin-9 receptor activity (GO:0004919), interleukin-9 binding (GO:0019983), cytokine receptor activity (GO:0004896), protein binding (GO:0005515)
GO Cellular Component (5): obsolete extracellular space (GO:0005615), plasma membrane (GO:0005886), external side of plasma membrane (GO:0009897), extracellular region (GO:0005576), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Interleukin-2 family signaling | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| regulation of cellular process | 2 |
| cytokine-mediated signaling pathway | 2 |
| cytokine binding | 2 |
| cellular anatomical structure | 2 |
| cell communication | 1 |
| cellular process | 1 |
| signaling | 1 |
| cellular response to stimulus | 1 |
| B cell mediated immunity | 1 |
| cellular response to interleukin-9 | 1 |
| cell population proliferation | 1 |
| cell surface receptor signaling pathway | 1 |
| cellular response to cytokine stimulus | 1 |
| cytokine receptor activity | 1 |
| interleukin-9 binding | 1 |
| interleukin-9-mediated signaling pathway | 1 |
| growth factor binding | 1 |
| transmembrane signaling receptor activity | 1 |
| immune receptor activity | 1 |
| binding | 1 |
| membrane | 1 |
| cell periphery | 1 |
| plasma membrane | 1 |
| cell surface | 1 |
| side of membrane | 1 |
Protein interactions and networks
STRING
925 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| IL9R | IL9 | P15248 | 968 |
| IL9R | IL2RG | P31785 | 766 |
| IL9R | SPRY3 | O43610 | 756 |
| IL9R | VAMP7 | P51809 | 709 |
| IL9R | CD38 | P28907 | 661 |
| IL9R | IL4 | P05112 | 617 |
| IL9R | IRF4 | Q15306 | 603 |
| IL9R | IL7 | P13232 | 589 |
| IL9R | IL2 | P01585 | 585 |
| IL9R | CCRL2 | O00421 | 557 |
| IL9R | CCR6 | P51684 | 557 |
| IL9R | VAMP1 | P23763 | 549 |
| IL9R | CCL17 | Q92583 | 529 |
| IL9R | ZBTB32 | Q9Y2Y4 | 516 |
| IL9R | CXCR5 | P32302 | 509 |
IntAct
10 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| YWHAZ | IL9R | psi-mi:“MI:0915”(physical association) | 0.630 |
| YWHAZ | IL9R | psi-mi:“MI:0914”(association) | 0.630 |
| YWHAZ | IL9R | psi-mi:“MI:0407”(direct interaction) | 0.630 |
| IL9R | RETSAT | psi-mi:“MI:0914”(association) | 0.530 |
| CRADD | IL9R | psi-mi:“MI:0915”(physical association) | 0.370 |
| IL9R | TMEM131L | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (41): LSR (Affinity Capture-MS), CCPG1 (Affinity Capture-MS), SARAF (Affinity Capture-MS), RETSAT (Affinity Capture-MS), DHRS7 (Affinity Capture-MS), DGCR2 (Affinity Capture-MS), TTC17 (Affinity Capture-MS), NETO2 (Affinity Capture-MS), TMEM39A (Affinity Capture-MS), ABCB10 (Affinity Capture-MS), POMT1 (Affinity Capture-MS), EDA (Affinity Capture-MS), PDE3B (Affinity Capture-MS), TM2D3 (Affinity Capture-MS), ZDHHC18 (Affinity Capture-MS)
ESM2 similar proteins: A0A1B0GW64, A0A5F4BST2, A0PJX4, A8MVS5, A8MWV9, B0FP48, E5RIL1, E9PGG2, O14836, O60320, O95998, P09564, Q01113, Q01114, Q13477, Q2KI80, Q2T9R2, Q3TS39, Q3UPR0, Q3URD2, Q4V9L6, Q5FVJ4, Q5M869, Q6A044, Q6UWJ8, Q75VT8, Q864V4, Q8BRJ3, Q8BX43, Q8C503, Q8IVY1, Q8K5A9, Q8N112, Q8NC24, Q8NDY8, Q8QZT4, Q8R138, Q969Z4, Q9BUF7, Q9CQM1
Diamond homologs: P14753, P19235, P40931, Q01113, Q07303, Q2KL21, Q4W815, Q9MYZ9, Q01114, Q8R4S8
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| IL9 | up-regulates | IL9R | binding |
Disease & clinical
Clinical variants and AI predictions
ClinVar
101 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 2 |
| Likely pathogenic | 0 |
| Uncertain significance | 2 |
| Likely benign | 4 |
| Benign | 27 |
Top pathogenic / likely-pathogenic (2)
| Variant ID | HGVS | Classification |
|---|---|---|
| 147712 | GRCh38/hg38 Xq28(chrX:155699559-156022206)x1 | Pathogenic |
| 154936 | GRCh38/hg38 Xq28(chrX:155532532-156003229)x0 | Pathogenic |
SpliceAI
1604 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| X:156004551:G:GT | donor_gain | 1.0000 |
| X:156004552:A:T | donor_gain | 1.0000 |
| X:156004563:G:GT | donor_gain | 1.0000 |
| X:156004563:G:T | donor_gain | 1.0000 |
| X:156005430:GTGGA:G | donor_gain | 1.0000 |
| X:156005435:G:GG | donor_gain | 1.0000 |
| X:156006078:CACA:C | acceptor_loss | 1.0000 |
| X:156006081:AGGCC:A | acceptor_loss | 1.0000 |
| X:156006082:G:A | acceptor_loss | 1.0000 |
| X:156006082:GGCC:G | acceptor_gain | 1.0000 |
| X:156006187:AGGTA:A | donor_loss | 1.0000 |
| X:156006189:G:T | donor_loss | 1.0000 |
| X:156004418:A:AG | acceptor_gain | 0.9900 |
| X:156004419:G:GG | acceptor_gain | 0.9900 |
| X:156004419:GTT:G | acceptor_gain | 0.9900 |
| X:156004419:GTTA:G | acceptor_gain | 0.9900 |
| X:156004419:GTTAA:G | acceptor_gain | 0.9900 |
| X:156004526:C:G | donor_gain | 0.9900 |
| X:156004564:AGG:A | donor_loss | 0.9900 |
| X:156004565:GG:G | donor_loss | 0.9900 |
| X:156004566:GTAAC:G | donor_loss | 0.9900 |
| X:156004567:T:A | donor_loss | 0.9900 |
| X:156005276:A:AG | acceptor_gain | 0.9900 |
| X:156005276:AGCAG:A | acceptor_gain | 0.9900 |
| X:156005277:G:GG | acceptor_gain | 0.9900 |
| X:156005277:GCA:G | acceptor_gain | 0.9900 |
| X:156005277:GCAGG:G | acceptor_gain | 0.9900 |
| X:156005433:GA:G | donor_gain | 0.9900 |
| X:156006081:A:AG | acceptor_gain | 0.9900 |
| X:156006081:AG:A | acceptor_gain | 0.9900 |
AlphaMissense
6814 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| Y:57191002:T:A | W166R | 0.994 |
| Y:57191002:T:C | W166R | 0.994 |
| Y:57191082:G:C | W192C | 0.994 |
| Y:57191082:G:T | W192C | 0.994 |
| Y:57191960:T:A | W248R | 0.994 |
| Y:57191960:T:C | W248R | 0.994 |
| Y:57191962:G:C | W248C | 0.994 |
| Y:57191962:G:T | W248C | 0.994 |
| Y:57190295:T:C | F118S | 0.993 |
| Y:57191064:G:C | K186N | 0.992 |
| Y:57191064:G:T | K186N | 0.992 |
| Y:57190074:T:C | F83S | 0.991 |
| Y:57190294:T:C | F118L | 0.991 |
| Y:57190296:C:A | F118L | 0.991 |
| Y:57190296:C:G | F118L | 0.991 |
| Y:57191004:G:C | W166C | 0.990 |
| Y:57191004:G:T | W166C | 0.990 |
| Y:57191954:A:C | S246R | 0.990 |
| Y:57191956:T:A | S246R | 0.990 |
| Y:57191956:T:G | S246R | 0.990 |
| Y:57190358:A:C | Y139S | 0.989 |
| Y:57190002:A:T | N59I | 0.988 |
| Y:57190357:T:C | Y139H | 0.988 |
| Y:57190358:A:G | Y139C | 0.988 |
| Y:57191953:G:C | W245C | 0.987 |
| Y:57191953:G:T | W245C | 0.987 |
| Y:57190295:T:G | F118C | 0.986 |
| Y:57190357:T:G | Y139D | 0.986 |
| Y:57191951:T:A | W245R | 0.986 |
| Y:57191951:T:C | W245R | 0.986 |
dbSNP variants (sampled 300 via entrez): RS1000049770 (X:156006708 C>G,T), RS1000081875 (X:156006515 C>T), RS1000692372 (X:155998667 G>T), RS1000723453 (X:155998557 C>T), RS1000975891 (X:156003212 C>T), RS1001055953 (X:156007337 C>T), RS1001083528 (X:156007212 G>A,T), RS1001152216 (X:156001031 C>T), RS1001385243 (X:155996446 C>G), RS1001609180 (X:156011964 T>C), RS1001634917 (X:156000787 G>A), RS1001747496 (X:156005697 G>A,C), RS1001759127 (X:155996685 G>A), RS1002045700 (X:156011561 C>T), RS1002169709 (X:156005926 C>T)
Disease associations
OMIM: gene MIM:300007 | disease phenotypes:
GenCC curated gene-disease
Mondo (1): male infertility (MONDO:0005372)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D007248 | Infertility, Male | C12.100.500.430; C12.100.750.700; C12.200.294.430 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
GtoPdb / IUPHAR curated pharmacology
(IUPHAR/BPS Guide to Pharmacology — expert-curated)
Target class: catalytic receptor — IL-2 receptor family
CTD chemical–gene interactions
10 total (human), top 10 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| GSK-J4 | decreases expression | 1 |
| pentanal | increases expression | 1 |
| CGP 52608 | increases reaction, affects binding | 1 |
| poly(propyleneimine) | increases expression | 1 |
| Benzo(a)pyrene | increases expression | 1 |
| Cisplatin | increases expression | 1 |
| Mustard Gas | decreases expression | 1 |
| Smoke | decreases expression | 1 |
| Tetradecanoylphorbol Acetate | affects expression, affects cotreatment | 1 |
| Zinc | affects expression, affects cotreatment | 1 |
Cellosaurus cell lines
1 cell lines: 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_E8EJ | HEK-Blue IL-9 | Transformed cell line | Female |
Clinical trials (associated diseases)
125 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT02202382 | PHASE4 | COMPLETED | Effects of Korean Red Ginseng on Male Infertility |
| NCT02204826 | PHASE4 | COMPLETED | Effects of Korean Red Ginseng on Semen Parameters in Male Infertility Patients: a Randomized, Placebo-controlled, Double-blind Clinical Study |
| NCT03802864 | PHASE4 | COMPLETED | Post-operative Pain Control of Testicular Sperm Extraction Using Liposomal Bupivacaine |
| NCT06100432 | PHASE4 | ACTIVE_NOT_RECRUITING | Effect of Eurycoma Longifolia (DLBS5055) and Multivitamins (Vitamin C+Vitamin E+ β-carotene) for Infertile Males |
| NCT07523022 | PHASE4 | ENROLLING_BY_INVITATION | Comparison of the Effect of Gonadotropin and Clomiphene Citrate Treatment on Sperm Parameters and the Outcome of Assisted Reproductive Procedures in Subfertile Men Based on the APHRODITE Groups |
| NCT00975117 | PHASE3 | COMPLETED | Spermotrend in the Treatment of Male Infertility |
| NCT01407432 | PHASE3 | COMPLETED | Impact of Folates in the Care of the Male Infertility |
| NCT01895816 | PHASE3 | COMPLETED | Herbal Tonic Fertile Supplement(ZO2C5) |
| NCT02605070 | PHASE3 | TERMINATED | Pilot Study on the Effects of FSH Treatment on the Epigenetic Characteristics of Spermatozoa in Infertile Patients With Severe Oligozoospermia |
| NCT07402759 | PHASE3 | ACTIVE_NOT_RECRUITING | Impact of tdrd9 Gene Mutations in the Therapeutic Response to L-carnitine in Oligoasthenozoospermic Men |
| NCT01880086 | PHASE2 | COMPLETED | Clomiphene Citrate for the Treatment of Low Testosterone Associated With Chronic Opioid Pain Medication Administration |
| NCT02061384 | PHASE2 | COMPLETED | RA-2 13-cis Retinoic Acid (Isotretinoin) |
| NCT02421887 | PHASE2 | COMPLETED | Males, Antioxidants, and Infertility Trial |
| NCT05200663 | PHASE2 | UNKNOWN | Efficacy Comparison of Tamoxifen and Tamoxifen With Antioxidants on Semen Quality of Male With Idiopathic Infertility |
| NCT05290558 | PHASE2 | ACTIVE_NOT_RECRUITING | The Therapeutic Effects of Bu Shen Yi Jing Pill on Semen Quality in Sub Fertile Males: a Randomized Controlled Trial |
| NCT06091969 | PHASE2 | NOT_YET_RECRUITING | Supplementation for Male Subfertility |
| NCT01595308 | PHASE1 | COMPLETED | A Pilot Study to Evaluate the Effect of Pomegranate Juice on Semen Parameters in Healthy Male Volunteers |
| NCT02122211 | PHASE1 | COMPLETED | Choline Dehydrogenase and Sperm Function: Effects of Betaine |
| NCT02575924 | PHASE1 | UNKNOWN | Influence of Culture Media on Clinical Outcomes in Poor Responders or Severe Male Infertility |
| NCT01304927 | PHASE2/PHASE3 | COMPLETED | Vitamin D Supplementation and Male Infertility: The CBG-study a Randomized Clinical Trial |
| NCT02349945 | PHASE2/PHASE3 | COMPLETED | FSH Receptor Polymorphism p.N680S and Efficacy of FSH Therapy |
| NCT05222841 | PHASE2/PHASE3 | COMPLETED | The Effectiveness of Spermotrend Food Supplement in the Treatment of Male Infertility |
| NCT05616598 | PHASE2/PHASE3 | COMPLETED | Effect of New Oral Treatment for Hepatitis C Virus on Seminal Parameters |
| NCT02025270 | PHASE1/PHASE2 | COMPLETED | MSCs For Treatment of Azoospermic Patients |
| NCT04541459 | EARLY_PHASE1 | UNKNOWN | Validation of New Devices Against Ambient Electromagnetic Radiation |
| NCT05792813 | EARLY_PHASE1 | UNKNOWN | Efficacy and Safety of Linggui Yangyuan Paste in Patients With Male Infertility |
| NCT06188936 | EARLY_PHASE1 | COMPLETED | Home Semen Analysis Tests As a Screening Tool for Fertility Patients |
| NCT00012480 | Not specified | COMPLETED | Effect of Environmental Exposures on the Egg Fertilizing Ability of Human Sperm |
| NCT00044369 | Not specified | COMPLETED | Role of the Toxic Metal Cadmium in the Mechanism Producing Infertility With a Varicocele |
| NCT00119925 | Not specified | UNKNOWN | ‘SPRING’-Study: Subfertility Guidelines: Patient Related Implementation in the Netherlands Among Gynaecologists |
| NCT00178516 | Not specified | COMPLETED | Vitamin E and Male Infertility |
| NCT00315029 | Not specified | COMPLETED | Patient-Centered Implementation Trial for Single Embryo Transfer |
| NCT00341120 | Not specified | COMPLETED | Genetic Causes of Male Infertility |
| NCT00481403 | Not specified | COMPLETED | Study of Sperm Molecular Factors Implicated in Male Fertility |
| NCT00548977 | Not specified | COMPLETED | Genetic Studies Spermatogenic Failure |
| NCT00596739 | Not specified | COMPLETED | A Study of the Pre- and Post-operative Semen Analyses and Reproductive Hormone Levels of Men Undergoing Weight-reduction Surgery |
| NCT00756561 | Not specified | COMPLETED | HOP-2A - Intratesticular Hormone Levels |
| NCT00961558 | Not specified | TERMINATED | Canadian Varicocelectomy Initiative (CVI): Effects on Male Fertility and Testicular Function of Varicocelectomy |
| NCT01075334 | Not specified | UNKNOWN | Is a Carnitine Based Food Supplement (PorimoreTM) for Infertile Men Superior to Folate and Zinc With Regard to Pregnancy Rates in Intrauterine Insemination Cycles? |
| NCT01178463 | Not specified | UNKNOWN | Spermatogonial Stem Cells in Azoospermic Patients: a Comparison Between Obstructive and Non-obstructive Azoospermia |
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.