Human Gene IFNG (ENST00000229135.4_7) from GENCODE V47lift37
  Description: interferon gamma (from RefSeq NM_000619.3)
Gencode Transcript: ENST00000229135.4_7
Gencode Gene: ENSG00000111537.5_9
Transcript (Including UTRs)
   Position: hg19 chr12:68,548,548-68,553,520 Size: 4,973 Total Exon Count: 4 Strand: -
Coding Region
   Position: hg19 chr12:68,549,133-68,553,395 Size: 4,263 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:68,548,548-68,553,520)mRNA (may differ from genome)Protein (166 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: IFNG_HUMAN
DESCRIPTION: RecName: Full=Interferon gamma; Short=IFN-gamma; AltName: Full=Immune interferon; Flags: Precursor;
FUNCTION: Produced by lymphocytes activated by specific antigens or mitogens. IFN-gamma, in addition to having antiviral activity, has important immunoregulatory functions. It is a potent activator of macrophages, it has antiproliferative effects on transformed cells and it can potentiate the antiviral and antitumor effects of the type I interferons.
SUBUNIT: Homodimer.
SUBCELLULAR LOCATION: Secreted.
TISSUE SPECIFICITY: Released primarily from activated T lymphocytes.
PTM: Proteolytic processing produces C-terminal heterogeneity, with proteins ending alternatively at Gly-150, Met-157 or Gly-161.
DISEASE: In Caucasians, genetic variation in IFNG is associated with the risk of aplastic anemia (AA) [MIM:609135]. AA is a rare disease in which the reduction of the circulating blood cells results from damage to the stem cell pool in bone marrow. In most patients, the stem cell lesion is caused by an autoimmune attack. T-lymphocytes, activated by an endogenous or exogenous, and most often unknown antigenic stimulus, secrete cytokines, including IFN-gamma, which would in turn be able to suppress hematopoiesis.
PHARMACEUTICAL: Available under the name Actimmune (Genentech). Used for reducing the frequency and severity of serious infections associated with chronic granulomatous disease (CGD).
SIMILARITY: Belongs to the type II (or gamma) interferon family.
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/IFNG";
WEB RESOURCE: Name=Wikipedia; Note=Interferon gamma entry; URL="http://en.wikipedia.org/wiki/Interferon_gamma";
WEB RESOURCE: Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/ifng/";

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

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To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: IFNG
Diseases sorted by gene-association score: tsc2 angiomyolipomas, renal, modifier of* (389), hepatitis c virus* (323), aplastic anemia* (275), hiv-1* (161), aplastic anemia, ifng-related* (100), cutaneous leishmaniasis (40), leishmaniasis (30), tetanus (30), pulmonary tuberculosis (24), visceral leishmaniasis (24), cryptococcal meningitis (23), toxoplasmosis (23), lepromatous leprosy (23), fungal meningitis (22), tuberculoid leprosy (22), alopecia areata (21), tuberculosis (19), chagas disease (19), eosinophilic pustular folliculitis (19), mycoplasmal pneumonia (18), autoimmune myocarditis (18), chronic granulomatous disease (18), pulmonary sarcoidosis (18), gestational choriocarcinoma (17), extrapulmonary tuberculosis (17), tropical spastic paraparesis (17), chronic beryllium disease (17), trypanosomiasis (16), cryptococcosis (16), african tick-bite fever (16), berylliosis (16), pleural tuberculosis (14), invasive aspergillosis (14), malaria (13), chronic graft versus host disease (13), peanut allergy (13), interferon gamma, receptor 1, deficiency (13), acute graft versus host disease (13), chronic inflammatory demyelinating polyradiculoneuropathy (13), folliculitis (13), alopecia universalis (13), atopic keratoconjunctivitis (13), spotted fever (13), relapsing-remitting multiple sclerosis (13), cystic lymphangioma (13), plasmodium falciparum malaria (12), histoplasmosis (12), inflammatory bowel disease (12), schistosomiasis (12), lymphadenitis (11), temporal arteritis (11), hyper ige syndrome (11), aseptic meningitis (11), viral meningitis (11), spondyloarthropathy (11), herpes zoster (11), relapsing polychondritis (11), paranasal sinus disease (11), urinary schistosomiasis (11), eosinophilia-myalgia syndrome (11), mouth disease (10), influenza (10), uveitis (10), hyperlucent lung (10), orofacial granulomatosis (10), eosinophilic fasciitis (10), allergic asthma (10), pancreas adenocarcinoma (10), viral infectious disease (10), refractory celiac disease (10), sporotrichosis (10), eczema herpeticum (10), cutaneous t cell lymphoma (10), nervous system disease (10), hepatitis b (10), hashimoto thyroiditis (10), toxic shock syndrome (10), hypersplenism (9), aspergillosis (9), stevens-johnson syndrome/toxic epidermal necrolysis (9), graft-versus-host disease, protection against (9), salmonellosis (9), graves' disease (9), human t-cell leukemia virus type 2 (9), staphylococcal toxic shock syndrome (9), eales disease (9), buruli ulcer (9), nonspecific interstitial pneumonia (9), systemic scleroderma (9), atopic dermatitis (9), central nervous system disease (9), autoimmune encephalitis (9), neuritis (9), polyradiculoneuropathy (9), plasmodium vivax malaria (9), reactive arthritis (9), typhoid fever (8), sarcoidosis 1 (8), monocytic leukemia (8), pericardial tuberculosis (8), erythema multiforme (8), allergic hypersensitivity disease (8), t-cell/histiocyte rich large b cell lymphoma (8), rheumatic disease (8), brucellosis (8), chronic active epstein-barr virus infection (8), measles (8), trichosporonosis (8), myasthenia gravis (8), coccidiosis (8), panniculitis (8), multiple sclerosis, disease progression, modifier of (8), vernal conjunctivitis (8), variola major (8), hypersensitivity reaction type ii disease (8), neuroschistosomiasis (8), strongyloidiasis (8), filariasis (8), q fever (8), paracoccidioidomycosis (8), pleurisy (8), echinococcosis (8), dengue hemorrhagic fever (8), colitis (8), fusariosis (8), tonsillitis (8), demyelinating disease (7), acquired immunodeficiency syndrome (7), cytomegalovirus retinitis (7), hand, foot and mouth disease (7), penicillin allergy (7), bronchiolitis obliterans (7), carotid artery thrombosis (7), toxic oil syndrome (7), contact dermatitis (7), leprosy (7), poliomyelitis (7), allergic contact dermatitis (7), rheumatoid arthritis (7), intermediate uveitis (7), soft tissue sarcoma (7), proliferative glomerulonephritis (7), keratoconjunctivitis (7), primary bacterial infectious disease (7), far eastern spotted fever (7), bronchiolitis (7), mumps (7), food allergy (7), melioidosis (7), chlamydia (7), candida glabrata (7), smallpox (7), severe acute respiratory syndrome (7), mixed connective tissue disease (7), campylobacteriosis (7), clonorchiasis (7), lichen planus (7), systemic lupus erythematosus (6), chronic mucocutaneous candidiasis (6), tuberculous peritonitis (6), hemorrhagic fever (6), idiopathic interstitial pneumonia (6), candidiasis (6), allergic conjunctivitis (6), idiopathic bronchiectasis (6), acute necrotizing encephalitis (6), fascioliasis (6), primary peritoneal carcinoma (6), atopy (6), osteomyelitis (6), hemophagocytic lymphohistiocytosis (6), baylisascariasis (6), posterior uveitis (6), meconium aspiration syndrome (6), lichen disease (6), crohn's colitis (6), primary immunodeficiency disease (6), thyroiditis (6), microscopic colitis (6), dendritic cell tumor (6), conjunctivitis (6), cytomegalovirus infection (6), connective tissue disease (6), eumycotic mycetoma (6), vulvovaginal candidiasis (6), hematopoietic stem cell transplantation (6), hepatitis e (6), sezary's disease (6), arthritis (6), autoimmune disease of endocrine system (5), alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity (5), autoinflammation, lipodystrophy, and dermatosis syndrome (5), rasmussen encephalitis (5), cat-scratch disease (5), lymphopenia (5), wegener granulomatosis (5), parasitic protozoa infectious disease (5), opportunistic mycosis (5), multicentric castleman disease (5), suppurative lymphadenitis (5), mucinoses (5), hepatitis c (5), dermatitis (5), allergic rhinitis (5), tumoral calcinosis, familial, normophosphatemic (5), omenn syndrome (5), breast giant fibroadenoma (4), congenital hemolytic anemia (4), pulmonary fibrosis, idiopathic (4), jaw cancer (4), ulcerative colitis (4), myositis fibrosa (4), hypersensitivity reaction type iv disease (4), colorectal cancer (3), gliosarcoma (3), kidney cancer (3), interstitial lung disease (3), renal cell carcinoma (3), peritonitis (3), periodontitis (3), meningitis (3), asthma (3), skin disease (3), crohn's disease (3), osteoporosis (3), celiac disease (3), diabetes mellitus, insulin-dependent (2), eye disease (2), obesity (2), common variable immunodeficiency (2), hypersensitivity reaction disease (2), human immunodeficiency virus infectious disease (1), autoimmune disease of gastrointestinal tract (1), immune system disease (1), bone inflammation disease (1), respiratory system disease (1), intestinal disease (1), gastrointestinal system disease (1), behcet syndrome (1), leukemia, acute myeloid (0)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 0.56 RPKM in Whole Blood
Total median expression: 2.63 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -26.20125-0.210 Picture PostScript Text
3' UTR -114.80585-0.196 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR009079 - 4_helix_cytokine-like_core
IPR012351 - 4_helix_cytokine_core
IPR002069 - Interferon_gamma

Pfam Domains:
PF00714 - Interferon gamma

SCOP Domains:
47266 - 4-helical cytokines

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1EKU - X-ray MuPIT 1FG9 - X-ray MuPIT 1FYH - X-ray MuPIT 1HIG - X-ray MuPIT 3BES - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P01579
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005125 cytokine activity
GO:0005133 interferon-gamma receptor binding
GO:0005515 protein binding

Biological Process:
GO:0000060 protein import into nucleus, translocation
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0001934 positive regulation of protein phosphorylation
GO:0002250 adaptive immune response
GO:0006915 apoptotic process
GO:0006955 immune response
GO:0006959 humoral immune response
GO:0007050 cell cycle arrest
GO:0007166 cell surface receptor signaling pathway
GO:0008284 positive regulation of cell proliferation
GO:0009615 response to virus
GO:0010469 regulation of receptor activity
GO:0010508 positive regulation of autophagy
GO:0010628 positive regulation of gene expression
GO:0010629 negative regulation of gene expression
GO:0010634 positive regulation of epithelial cell migration
GO:0010835 regulation of protein ADP-ribosylation
GO:0030857 negative regulation of epithelial cell differentiation
GO:0031334 positive regulation of protein complex assembly
GO:0032700 negative regulation of interleukin-17 production
GO:0032735 positive regulation of interleukin-12 production
GO:0032747 positive regulation of interleukin-23 production
GO:0032834 positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation involved in immune response
GO:0033141 positive regulation of peptidyl-serine phosphorylation of STAT protein
GO:0033160 positive regulation of protein import into nucleus, translocation
GO:0034393 positive regulation of smooth muscle cell apoptotic process
GO:0035722 interleukin-12-mediated signaling pathway
GO:0040008 regulation of growth
GO:0042531 positive regulation of tyrosine phosphorylation of STAT protein
GO:0045429 positive regulation of nitric oxide biosynthetic process
GO:0045589 regulation of regulatory T cell differentiation
GO:0045672 positive regulation of osteoclast differentiation
GO:0045892 negative regulation of transcription, DNA-templated
GO:0048662 negative regulation of smooth muscle cell proliferation
GO:0050796 regulation of insulin secretion
GO:0051044 positive regulation of membrane protein ectodomain proteolysis
GO:0051607 defense response to virus
GO:0051712 positive regulation of killing of cells of other organism
GO:0060333 interferon-gamma-mediated signaling pathway
GO:0060334 regulation of interferon-gamma-mediated signaling pathway
GO:0060550 positive regulation of fructose 1,6-bisphosphate 1-phosphatase activity
GO:0060552 positive regulation of fructose 1,6-bisphosphate metabolic process
GO:0060557 positive regulation of vitamin D biosynthetic process
GO:0060559 positive regulation of calcidiol 1-monooxygenase activity
GO:0071902 positive regulation of protein serine/threonine kinase activity
GO:0090312 positive regulation of protein deacetylation
GO:0097191 extrinsic apoptotic signaling pathway
GO:1903078 positive regulation of protein localization to plasma membrane
GO:1903543 positive regulation of exosomal secretion
GO:1904798 positive regulation of core promoter binding
GO:2000309 positive regulation of tumor necrosis factor (ligand) superfamily member 11 production

Cellular Component:
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005622 intracellular


-  Descriptions from all associated GenBank mRNAs
  E00095 - DNA coding of interferon-gamma.
LP880240 - Sequence 44 from Patent WO2017181111.
LP882069 - Sequence 11 from Patent WO2017181079.
LQ882858 - Sequence 7 from Patent WO2018160841.
X13274 - Human mRNA for interferon IFN-gamma.
BC070256 - Homo sapiens interferon, gamma, mRNA (cDNA clone MGC:88243 IMAGE:30414644), complete cds.
V00543 - Human messenger RNA for immune (gamma) interferon.
E00118 - DNA coding of interferon gamma.
E00228 - DNA coding for human interferon-gamma.
E00234 - cDNA encoding human interferon.
E01111 - cDNA encoding human IFN-gamma.
E00180 - cDNA encoding human interferon-gamma.
E00373 - cDNA encoding human interferon-gamma.
E00380 - DNA coding for human interferon gamma.
E00692 - cDNA encoding human INF-gamma.
E06017 - polypeptide cDNA encoding human IFN-gamma.
X01992 - Human mRNA for HuIFN-gamma interferon.
E00226 - cDNA encoding human interferon gamma.
A34532 - Human IFN-gamma polypeptide coding sequence.
E00598 - cDNA encoding for human gamma interferon(gamma-interferon).
E01328 - Nucleotide sequence of human INF-gamma cDNA.
X62468 - H.sapiens mRNA for IFN-gamma (pKC-0).
E00695 - A plasmid pGSII-102 containing a DNA encoding a polypeptide having human gamma-interferon activities.
AM903379 - Homo sapiens mRNA for interferon gamma (IFNG gene), clone 1.
AY255839 - Homo sapiens clone Zalpha.A_G139.4. interferon gamma mRNA, complete cds.
AF506749 - Homo sapiens interferon-gamma mRNA, complete cds.
AY044154 - Homo sapiens interferon gamma mRNA, partial cds.
E00119 - Interferon gamma.
E00233 - DNA sequence encoding human interferon.
AB451324 - Homo sapiens IFNG mRNA for interferon gamma precursor, complete cds, clone: FLJ08205AAAN.
AY255837 - Homo sapiens clone Zalpha.A_g3.1 interferon gamma mRNA, complete cds.
KJ891439 - Synthetic construct Homo sapiens clone ccsbBroadEn_00833 IFNG gene, encodes complete protein.
E00832 - DNA sequence of human IFN-gamma.
X87308 - H.sapiens mRNA for interferon-gamma.
AB451453 - Homo sapiens IFNG mRNA for interferon gamma precursor, partial cds, clone: FLJ08205AAAF.
AB590804 - Synthetic construct DNA, clone: pFN21AB6827, Homo sapiens IFNG gene for interferon, gamma, without stop codon, in Flexi system.
EF173872 - Homo sapiens interferon gamma mRNA, partial cds.
X62469 - H.sapiens mRNA for IFN-gamma (pKC-10L).
X62473 - H.sapiens mRNA for IFN-gamma (pKC-11).
X62474 - H.sapiens mRNA for IFN-gamma (pKC-11L).
X62472 - H.sapiens mRNA for IFN-gamma (pKC-14L).
E00611 - cDNA encoding human interferon-gamma derivative.
X62470 - H.sapiens mRNA for IFN-gamma (pKC-20).
X62471 - H.sapiens mRNA for IFN-gamma (pKC-19L).
LQ927228 - Sequence 5 from Patent WO2018191660.
MP202744 - Sequence 55 from Patent WO2019090263.
MB143795 - JP 2019515670-A/6: METHODS FOR MONITORING AND TREATING CANCER.
MB423119 - JP 2019521641-A/6: METHODS FOR MONITORING AND TREATING CANCER.
MP584508 - Sequence 7 from Patent WO2020081767.
JD448918 - Sequence 429942 from Patent EP1572962.
JD499170 - Sequence 480194 from Patent EP1572962.
JD238604 - Sequence 219628 from Patent EP1572962.
E00388 - DNA coding for human interferon-gamma.
E00612 - DNA encoding signal peptide of human interferon-gamma.
JD182768 - Sequence 163792 from Patent EP1572962.
JD436499 - Sequence 417523 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_il18Pathway - IL 18 Signaling Pathway
h_nktPathway - Selective expression of chemokine receptors during T-cell polarization
h_ifngPathway - IFN gamma signaling pathway
h_tob1Pathway - Role of Tob in T-cell activation
h_41bbPathway - The 4-1BB-dependent immune response
h_IL12Pathway - IL12 and Stat4 Dependent Signaling Pathway in Th1 Development
h_cytokinePathway - Cytokine Network
h_tidPathway - Chaperones modulate interferon Signaling Pathway
h_no2il12Pathway - NO2-dependent IL 12 Pathway in NK cells
h_granulocytesPathway - Adhesion and Diapedesis of Granulocytes
h_dcPathway - Dendritic cells in regulating TH1 and TH2 Development
h_inflamPathway - Cytokines and Inflammatory Response
h_th1th2Pathway - Th1/Th2 Differentiation

Reactome (by CSHL, EBI, and GO)

Protein P01579 (Reactome details) participates in the following event(s):

R-HSA-873926 Interaction of IFNG with IFNGR
R-HSA-873918 Transphosphorylation of JAK1
R-HSA-877269 SOCS-1 and SOCS-3 binds to p-JAK2
R-HSA-873919 Phosphorylation of JAK2
R-HSA-873921 Binding of STAT1 to p-IFNGR1
R-HSA-873924 Phosphorylation of IFNGR1 by JAK kinases
R-HSA-873927 Release of STAT1 dimer from active receptor unit
R-HSA-877308 Dephosphorylation of JAKs by PTPs
R-HSA-909552 Phosphorylation of STAT1 at Ser727
R-HSA-873922 Phosphorylation of STAT1 by JAK kinases
R-HSA-8877330 RUNX1 and FOXP3 control the development of regulatory T lymphocytes (Tregs)
R-HSA-8950505 Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation
R-HSA-877300 Interferon gamma signaling
R-HSA-8878171 Transcriptional regulation by RUNX1
R-HSA-9020591 Interleukin-12 signaling
R-HSA-877312 Regulation of IFNG signaling
R-HSA-913531 Interferon Signaling
R-HSA-212436 Generic Transcription Pathway
R-HSA-447115 Interleukin-12 family signaling
R-HSA-1280215 Cytokine Signaling in Immune system
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-449147 Signaling by Interleukins
R-HSA-168256 Immune System
R-HSA-74160 Gene expression (Transcription)

-  Other Names for This Gene
  Alternate Gene Symbols: B5BU88, ENST00000229135.1, ENST00000229135.2, ENST00000229135.3, IFNG_HUMAN, NM_000619, P01579, Q53ZV4, uc317dpp.1, uc317dpp.2
UCSC ID: ENST00000229135.4_7
RefSeq Accession: NM_000619.3
Protein: P01579 (aka IFNG_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.