Gene Gene information from NCBI Gene database.
Entrez ID 3575
Gene name Interleukin 7 receptor
Gene symbol IL7R
Synonyms (NCBI Gene)
CD127CDW127IL-7R-alphaIL-7RalphaIL7RAIL7RalphaILRAIMD104lnc-IL7RsIL-7R
Chromosome 5
Chromosome location 5p13.2
Summary 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 interleuk
SNPs SNP information provided by dbSNP.
28
SNP ID Visualize variation Clinical significance Consequence
rs104893893 G>A Pathogenic Intron variant, coding sequence variant, stop gained
rs104893894 C>T Pathogenic Coding sequence variant, non coding transcript variant, missense variant
rs141698985 C>T Likely-pathogenic Stop gained, coding sequence variant, non coding transcript variant
rs147153824 G>A Conflicting-interpretations-of-pathogenicity Coding sequence variant, intron variant, missense variant
rs193922640 ->ATATATTTCA Likely-pathogenic Frameshift variant, coding sequence variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
46
miRTarBase ID miRNA Experiments Reference
MIRT029787 hsa-miR-26b-5p Microarray 19088304
MIRT723842 hsa-miR-942-3p HITS-CLIP 19536157
MIRT723841 hsa-miR-889-5p HITS-CLIP 19536157
MIRT723840 hsa-miR-1228-3p HITS-CLIP 19536157
MIRT723839 hsa-miR-6131 HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
50
GO ID Ontology Definition Evidence Reference
GO:0000018 Process Regulation of DNA recombination TAS 9495344
GO:0000902 Process Cell morphogenesis IEA
GO:0001782 Process B cell homeostasis IEA
GO:0001913 Process T cell mediated cytotoxicity IBA
GO:0001913 Process T cell mediated cytotoxicity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
146661 6024 ENSG00000168685
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P16871
Protein name Interleukin-7 receptor subunit alpha (IL-7 receptor subunit alpha) (IL-7R subunit alpha) (IL-7R-alpha) (IL-7RA) (CDw127) (CD antigen CD127)
Protein function Receptor for interleukin-7. Also acts as a receptor for thymic stromal lymphopoietin (TSLP).
PDB 3DI2 , 3DI3 , 3UP1 , 5J11 , 6P50 , 6P67 , 7OPB
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF18447 FN3_7 32 127 Fibronectin type III domain Domain
PF00041 fn3 130 218 Fibronectin type III domain Domain
Sequence
MTILGTTFGMVFSLLQVVSGESGYAQNGDLEDAELDDYSFSCYSQLEVNGSQHSLTCAFE
DPDVNITNLEFEICGALVEVKCLNFRKLQEIYFIETKKFLLIGKSNICVKVGEKSLTCKK
IDLTTIV
KPEAPFDLSVVYREGANDFVVTFNTSHLQKKYVKVLMHDVAYRQEKDENKWTH
VNLSSTKLTLLQRKLQPAAMYEIKVRSIPDHYFKGFWS
EWSPSYYFRTPEINNSSGEMDP
ILLTISILSFFSVALLVILACVLWKKRIKPIVWPSLPDHKKTLEHLCKKPRKNLNVSFNP
ESFLDCQIHRVDDIQARDEVEGFLQDTFPQQLEESEKQRLGGDVQSPNCPSEDVVITPES
FGRDSSLTCLAGNVSACDAPILSSSRSLDCRESGKNGPHVYQDLLLSLGTTNSTLPPPFS
LQSGILTLNPVAQGQPILTSLGSNQEEAYVTMSSFYQNQ
Sequence length 459
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Cytokine-cytokine receptor interaction
FoxO signaling pathway
PI3K-Akt signaling pathway
JAK-STAT signaling pathway
Hematopoietic cell lineage
Pathways in cancer
Primary immunodeficiency
  Interleukin-7 signaling
Cargo recognition for clathrin-mediated endocytosis
Clathrin-mediated endocytosis
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
545
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Breast neoplasm Pathogenic rs1717980926 RCV002285231
Histiocytic medullary reticulosis Likely pathogenic rs141698985 RCV000991308
IL7R-related disorder Likely pathogenic rs141698985 RCV003898007
Immunodeficiency 104 Pathogenic; Likely pathogenic rs201559094, rs1354581284, rs1759969389, rs587778405, rs1759660930, rs1225034187, rs1759788196, rs1387689607, rs199641706, rs869312857, rs1369125529, rs200044623, rs2531575374, rs2531547862, rs202007062
View all (28 more)
RCV002032697
RCV001783479
RCV001843964
RCV000688209
RCV001941548
RCV001962844
RCV001998094
RCV002651894
RCV000416601
RCV000210421
RCV003626814
RCV000763140
RCV003515298
RCV003515583
RCV003516297
RCV003516298
RCV003516299
RCV003516300
RCV003515847
RCV003626927
RCV003627613
RCV003627055
RCV000015966
RCV000015967
RCV000015968
RCV000341907
RCV003842892
RCV003835374
RCV003991954
RCV003514302
RCV000820355
RCV002513253
RCV000535007
RCV000640050
RCV000685277
RCV000689926
RCV000701107
RCV001233554
RCV000796316
RCV000822917
RCV001869366
RCV001030043
RCV001219210
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
- no classification for the single variant rs1561418803, rs1002396899, rs757797163 -
Colon adenocarcinoma Benign rs201268331 RCV005907627
IMMUNODEFICIENCY 104, SEVERE COMBINED, SUSCEPTIBILITY TO Uncertain significance rs1759787978 RCV002260878
Multiple myeloma Uncertain significance rs1580851879 RCV000984126
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Abortion Habitual Associate 26345847
Acute Kidney Injury Associate 39696008
Adenocarcinoma of Lung Associate 23269987, 34301211, 34497605, 34580602, 34642306, 35710585, 38001428
Adrenocortical Carcinoma Associate 34410225
Agammaglobulinemia Inhibit 35611411
Alopecia Areata Associate 20546884
Altitude Sickness Inhibit 33393628
Aortic Aneurysm Abdominal Stimulate 39586133
Arthralgia Associate 33168080
Arthritis Stimulate 19714586