IFNG (interferon gamma)

Gene Gene information from NCBI Gene database.
Gene SNPs Transcription factors Other IDs Associated diseases
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
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide all (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
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide all (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
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide all (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
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide all (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.
Gene SNPs Transcription factors Other IDs Associated diseases
MIM HGNC e!Ensembl
147570 5438 ENSG00000111537
Protein Protein information from UniProt database.
Gene SNPs Transcription factors Other IDs Associated diseases
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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
27
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acquired immunodeficiency syndrome, rapid progression to Pathogenic rs2069709 RCV000015845
Immunodeficiency 69 Pathogenic rs1882625482 RCV001250909
Show/Hide Unknown Diseases (7)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Aplastic anemia Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity rs137854903, rs2069723, rs886049800, rs528060683, rs200610212, rs2069722, rs181407537, rs752463155, rs886049801, rs886049802, rs886049803, rs532081510, rs1413472447, rs1213374453, rs1882583669
View all (3 more)		 RCV000402637
RCV000337568
RCV000336544
RCV000375782
RCV000340021
RCV000278955
RCV000309808
RCV000272044
RCV000306194
RCV000405185
RCV000362211
RCV001110214
RCV001110962
RCV001110963
RCV001110964
RCV001110965
RCV001110966
RCV001112968
Aplastic anemia, susceptibility to risk factor rs34079299 RCV000015843
Colon adenocarcinoma Benign rs2234686 RCV005868278
Hepatitis C virus infection, response to therapy of drug response rs2069707 RCV000015846
Show/Hide Text Mining Associations (1195)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
3 Hydroxyacyl CoA Dehydrogenase Deficiency Stimulate 17392368
3 Hydroxyacyl CoA Dehydrogenase Deficiency Associate 18569454
3C syndrome Associate 19753481
3C syndrome Stimulate 34867990
Ablepharon macrostomia syndrome Associate 26110930
Abortion Habitual Associate 29017513
Abortion Habitual Stimulate 9093132
Abortion Spontaneous Stimulate 17482605, 33731680
Abortion Spontaneous Associate 25963913, 33565696, 36096448
Acquired Immunodeficiency Syndrome Inhibit 10602033, 8450057