Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3575
Gene name Gene Name - the full gene name approved by the HGNC.
Interleukin 7 receptor
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
IL7R
Synonyms (NCBI Gene) Gene synonyms aliases
CD127, CDW127, IL-7R-alpha, IL-7Ralpha, IL7RA, IL7Ralpha, ILRA, IMD104, lnc-IL7R, sIL-7R
Disease Acronyms (UniProt) Disease acronyms from UniProt database
IMD104
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5p13.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000018 Process Regulation of DNA recombination TAS 9495344
GO:0000902 Process Cell morphogenesis IEA
GO:0001915 Process Negative regulation of T cell mediated cytotoxicity IEA
GO:0003823 Function Antigen binding TAS 9495344
GO:0004896 Function Cytokine receptor activity IDA 11418668
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
146661 6024 ENSG00000168685
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Anemia Anemia rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966
View all (89 more)
Combined immunodeficiency Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive rs121908717, rs121908714, rs121908716, rs199422327, rs121908715, rs121908739, rs121908740, rs121908723, rs387906267, rs121908735, rs121908721, rs1194494050, rs2123516908, rs587776534, rs199422328
View all (43 more)
16492442, 27833609, 17827065, 11023514, 26123418, 15661025, 21664875, 24759676, 9843216, 25046553
Hypothyroidism Hypothyroidism rs869320723, rs121908862, rs121908863, rs121908865, rs121908866, rs121908867, rs121908870, rs121908871, rs121908872, rs2140110277, rs121908881, rs121908884, rs121908885, rs786205080, rs1586182912
View all (22 more)
Lymphoma Lymphoma rs11540652, rs1592119138, rs1592123162, rs1599367044
Unknown
Disease term Disease name Evidence References Source
Asthma Asthma 29785011 ClinVar, GWAS
Endometriosis Endometriosis 20864642 ClinVar
Otitis media Otitis Media ClinVar
Immunodeficiency immunodeficiency 104 GenCC
Associations from Text Mining
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