Gene Gene information from NCBI Gene database.
Entrez ID 3458
Gene name Interferon gamma
Gene symbol IFNG
Synonyms (NCBI Gene)
IFGIFIIMD69
Chromosome 12
Chromosome location 12q15
Summary This gene encodes a soluble cytokine that is a member of the type II interferon class. The encoded protein is secreted by cells of both the innate and adaptive immune systems. The active protein is a homodimer that binds to the interferon gamma receptor w
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs2069707 G>A,C Drug-response Upstream transcript variant
rs34079299 TGTGTGTGTGTG>-,TG,TGTG,TGTGTG,TGTGTGTG,TGTGTGTGTG,TGTGTGTGTGTGTG,TGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTG Risk-factor Intron variant
miRNA miRNA information provided by mirtarbase database.
34
miRTarBase ID miRNA Experiments Reference
MIRT006912 hsa-miR-16-5p Luciferase reporter assayqRT-PCR 22379033
MIRT006913 hsa-miR-15a-5p Luciferase reporter assayqRT-PCR 22379033
MIRT006914 hsa-miR-15b-5p Luciferase reporter assayqRT-PCR 22379033
MIRT006914 hsa-miR-15b-5p Luciferase reporter assayqRT-PCR 22379033
MIRT006914 hsa-miR-15b-5p Luciferase reporter assayqRT-PCR 22379033
Transcription factors Transcription factors information provided by TRRUST V2 database.
39
Transcription factor Regulation Reference
ATF2 Activation 12836278;18641343;20006311;20304822
ATF3 Activation 20304822
CREB1 Activation 20006311;20685939
CREB1 Repression 11907114
CREB1 Unknown 7759501
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
98
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II ISS
GO:0001774 Process Microglial cell activation IEA
GO:0001774 Process Microglial cell activation IGI 7715705, 19808651
GO:0001774 Process Microglial cell activation ISS
GO:0001819 Process Positive regulation of cytokine production IDA 30634164
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
147570 5438 ENSG00000111537
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P01579
Protein name Interferon gamma (IFN-gamma) (Immune interferon)
Protein function Type II interferon produced by immune cells such as T-cells and NK cells that plays crucial roles in antimicrobial, antiviral, and antitumor responses by activating effector immune cells and enhancing antigen presentation (PubMed:16914093, PubMe
PDB 1EKU , 1FG9 , 1FYH , 1HIG , 3BES , 6E3K , 6E3L
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00714 IFN-gamma 15 153 Interferon gamma Domain
Tissue specificity TISSUE SPECIFICITY: Released primarily from activated T lymphocytes.
Sequence
Sequence length 166
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
115
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
Acquired immunodeficiency syndrome, rapid progression to Pathogenic rs2069709 RCV000015845
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Immunodeficiency 69 Pathogenic rs1882625482 RCV001250909
★★★★☆
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
ANEMIA, APLASTIC CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANKYLOSING SPONDYLITIS AND OTHER INFLAMMATORY SPONDYLOPATHIES Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Aplastic anemia Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity ClinVar
ClinVar, Disgenet
ClinVar, Disgenet
ClinVar, Disgenet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
APLASTIC ANEMIA, IDIOPATHIC 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
Ablepharon macrostomia syndrome Ablepharon macrostomia syndrome Pubtator 26110930 Associate
★☆☆☆☆
Found in Text Mining only
Acquired Hypogammaglobulinemia Common Variable Immunodeficiency BEFREE 16634796, 8349943
★☆☆☆☆
Found in Text Mining only
Acrania Acrania CTD_human_DG 17075842
★☆☆☆☆
Found in Text Mining only
ACTH-Secreting Pituitary Adenoma Pituitary adenoma BEFREE 18715881
★☆☆☆☆
Found in Text Mining only
Acute encephalopathy Encephalopathy BEFREE 31709864
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 15606547, 20943267, 21067287, 23075808, 27397551, 28295300, 28782144, 30212785, 30443842
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 30747087
★☆☆☆☆
Found in Text Mining only
Acute otitis media Otitis media BEFREE 24463810
★☆☆☆☆
Found in Text Mining only
Acute pancreatitis Pancreatitis BEFREE 28375949, 29517628
★☆☆☆☆
Found in Text Mining only
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 10602416, 19393234, 19965687
★☆☆☆☆
Found in Text Mining only