Gene Gene information from NCBI Gene database.
Entrez ID 3574
Gene name Interleukin 7
Gene symbol IL7
Synonyms (NCBI Gene)
IL-7IMD130
Chromosome 8
Chromosome location 8q21.13
Summary The protein encoded by this gene is a cytokine important for B and T cell development. This cytokine and the hepatocyte growth factor (HGF) form a heterodimer that functions as a pre-pro-B cell growth-stimulating factor. IL7 is found to be a cofactor for
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs1486611027 T>A,C Risk-factor Coding sequence variant, stop gained, missense variant
miRNA miRNA information provided by mirtarbase database.
32
miRTarBase ID miRNA Experiments Reference
MIRT018556 hsa-miR-335-5p Microarray 18185580
MIRT022978 hsa-miR-124-3p Microarray 18668037
MIRT024567 hsa-miR-215-5p Microarray 19074876
MIRT026781 hsa-miR-192-5p Microarray 19074876
MIRT447670 hsa-miR-513b-3p PAR-CLIP 22100165
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
MYB Activation 11675351
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
47
GO ID Ontology Definition Evidence Reference
GO:0001961 Process Positive regulation of cytokine-mediated signaling pathway IDA 11418668
GO:0002360 Process T cell lineage commitment IEA
GO:0005125 Function Cytokine activity IBA
GO:0005125 Function Cytokine activity IDA 11418668, 25870237
GO:0005125 Function Cytokine activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
146660 6023 ENSG00000104432
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P13232
Protein name Interleukin-7 (IL-7)
Protein function Hematopoietic cytokine that plays an essential role in the development, expansion, and survival of naive and memory T-cells and B-cells thereby regulating the number of mature lymphocytes and maintaining lymphoid homeostasis (PubMed:25870237, Pu
PDB 3DI2 , 3DI3
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01415 IL7 26 177 Interleukin 7 Domain
Sequence
Sequence length 177
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Cytokine-cytokine receptor interaction
PI3K-Akt signaling pathway
JAK-STAT signaling pathway
Hematopoietic cell lineage
Pathways in cancer
  Interleukin-7 signaling
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
10
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Epidermodysplasia verruciformis, susceptibility to, 5 Pathogenic rs1486611027 RCV000855443
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
B-CELL ACUTE LYMPHOBLASTIC LEUKEMIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BRAIN INJURIES CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
EPIDERMODYSPLASIA VERRUCIFORMIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HYPERGLYCEMIA CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Coronary Syndrome Coronary Syndrome BEFREE 12742982
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 10386862, 11052810, 2388482, 24993875, 25565005, 28123588, 31817502, 7535143, 8199015, 8641368, 9548535
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 30782669
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 25171373
★☆☆☆☆
Found in Text Mining only
Adult Acute Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 10386862, 2388482, 28123588, 31817502, 7535143, 8641368
★☆☆☆☆
Found in Text Mining only
Adult Hodgkin Lymphoma Hodgkin Lymphoma BEFREE 19391137
★☆☆☆☆
Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia T-Cell Lymphoma/Leukemia BEFREE 21593192
★☆☆☆☆
Found in Text Mining only
Alopecia Alopecia BEFREE 9300730
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 30193587, 33194959 Associate
★☆☆☆☆
Found in Text Mining only
Amnesia Amnesia BEFREE 31507594
★☆☆☆☆
Found in Text Mining only