IL7R (interleukin 7 receptor)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
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.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(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.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(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 information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
146661 6024 ENSG00000168685
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
IDLTTIVKPEAPFDLSVVYREGANDFVVTFNTSHLQKKYVKVLMHDVAYRQEKDENKWTH
VNLSSTKLTLLQRKLQPAAMYEIKVRSIPDHYFKGFWSEWSPSYYFRTPEINNSSGEMDP
ILLTISILSFFSVALLVILACVLWKKRIKPIVWPSLPDHKKTLEHLCKKPRKNLNVSFNP
ESFLDCQIHRVDDIQARDEVEGFLQDTFPQQLEESEKQRLGGDVQSPNCPSEDVVITPES
FGRDSSLTCLAGNVSACDAPILSSSRSLDCRESGKNGPHVYQDLLLSLGTTNSTLPPPFS
LQSGILTLNPVAQGQPILTSLGSNQEEAYVTMSSFYQNQ
Sequence length 459
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (3)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Immunodeficiency Immunodeficiency 104 rs1554066684, rs1580851910, rs1561423197, rs193922645, rs587778405, rs200803157, rs1315265916, rs766555082, rs104893893, rs199641706, rs104893894, rs869312857, rs777878144, rs1448018291, rs193922640
View all (6 more)		 N/A
severe combined immunodeficiency disease Severe combined immunodeficiency disease rs193922643, rs193922645, rs1561423197, rs587778405, rs1561424886, rs193922640, rs869312857, rs193922641 N/A
histiocytic medullary reticulosis Histiocytic medullary reticulosis rs141698985 N/A
Show/Hide Unknown Diseases (15)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Ankylosing Spondylitis Ankylosing spondylitis N/A N/A GWAS
Asthma Age of onset of adult onset asthma, Asthma, Asthma in any disease, Atopic asthma, Asthma (adult onset) N/A N/A GWAS
Biliary Cholangitis Primary biliary cholangitis N/A N/A GWAS
Biliary Cirrhosis Primary biliary cirrhosis N/A N/A GWAS
Show/Hide Text Mining Associations (197)
Associations from Text Mining Disease 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