This gene encodes a member of the HIN-200 (hematopoietic interferon-inducible nuclear antigens with 200 amino acid repeats) family of cytokines. The encoded protein contains domains involved in DNA binding, transcriptional regulation, and protein-protein interactions. The protein localizes to the nucleoplasm and nucleoli, and interacts with p53 and retinoblastoma-1. It modulate... See more...

Aliases for IFI16 Gene

Aliases for IFI16 Gene

  • Interferon Gamma Inducible Protein 16 2 3 5
  • IFNGIP1 2 3 4
  • Interferon-Inducible Myeloid Differentiation Transcriptional Activator 3 4
  • Gamma-Interferon-Inducible Protein 16 3 4
  • PYHIN2 2 3
  • Interferon-Gamma Induced Protein IFI 16 3
  • Ifi-16 4
  • IFI16 5

External Ids for IFI16 Gene

Previous GeneCards Identifiers for IFI16 Gene

  • GC01P156771
  • GC01P154702
  • GC01P155747
  • GC01P156196
  • GC01P155782
  • GC01P157236
  • GC01P130336

Summaries for IFI16 Gene

Entrez Gene Summary for IFI16 Gene

  • This gene encodes a member of the HIN-200 (hematopoietic interferon-inducible nuclear antigens with 200 amino acid repeats) family of cytokines. The encoded protein contains domains involved in DNA binding, transcriptional regulation, and protein-protein interactions. The protein localizes to the nucleoplasm and nucleoli, and interacts with p53 and retinoblastoma-1. It modulates p53 function, and inhibits cell growth in the Ras/Raf signaling pathway. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2011]

GeneCards Summary for IFI16 Gene

IFI16 (Interferon Gamma Inducible Protein 16) is a Protein Coding gene. Diseases associated with IFI16 include Herpes Simplex and Genital Herpes. Among its related pathways are Cytosolic sensors of pathogen-associated DNA and Senescence and Autophagy in Cancer. Gene Ontology (GO) annotations related to this gene include transcription factor binding. An important paralog of this gene is PYHIN1.

UniProtKB/Swiss-Prot Summary for IFI16 Gene

  • Binds double-stranded DNA. Binds preferentially to supercoiled DNA and cruciform DNA structures. Seems to be involved in transcriptional regulation. May function as a transcriptional repressor. Could have a role in the regulation of hematopoietic differentiation through activation of unknown target genes. Controls cellular proliferation by modulating the functions of cell cycle regulatory factors including p53/TP53 and the retinoblastoma protein. May be involved in TP53-mediated transcriptional activation by enhancing TP53 sequence-specific DNA binding and modulating TP53 phosphorylation status. Seems to be involved in energy-level-dependent activation of the ATM/ AMPK/TP53 pathway coupled to regulation of autophagy. May be involved in regulation of TP53-mediated cell death also involving BRCA1. May be involved in the senescence of prostate epithelial cells. Involved in innate immune response by recognizing viral dsDNA in the cytosol and probably in the nucleus. After binding to viral DNA in the cytoplasm recruits TMEM173/STING and mediates the induction of IFN-beta. Has anti-inflammatory activity and inhibits the activation of the AIM2 inflammasome, probably via association with AIM2. Proposed to bind viral DNA in the nucleus, such as of Kaposi's sarcoma-associated herpesvirus, and to induce the formation of nuclear caspase-1-activating inflammasome formation via association with PYCARD. Inhibits replication of herpesviruses such as human cytomegalovirus (HCMV) probably by interfering with promoter recruitment of members of the Sp1 family of transcription factors. Necessary to activate the IRF3 signaling cascade during human herpes simplex virus 1 (HHV-1) infection and promotes the assembly of heterochromatin on herpesviral DNA and inhibition of viral immediate-early gene expression and replication. Involved in the MTA1-mediated epigenetic regulation of ESR1 expression in breast cancer.

Gene Wiki entry for IFI16 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for IFI16 Gene

Genomics for IFI16 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for IFI16 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J158998 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 264.6 +0.0 33 2.8 ZNF654 IKZF1 JUND POLR2A NFIC YY1 CTCF REST ZNF592 TRIM22 IFI16 HSALNG0007747 PYDC5 AIM2 lnc-AIM2-3
GH01J159004 Promoter/Enhancer 2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 269.2 +11.1 11117 12.6 BCLAF1 SP1 ZNF207 MYC IKZF1 JUND ZNF592 ATF2 POLR2A YY1 IFI16 OR6N2 RAD1P2 CADM3-AS1 ACKR1 AIM2 PYHIN1 HSALNG0007749 lnc-AIM2-3 PYDC5
GH01J158996 Enhancer 0.6 ENCODE dbSUPER 7.4 -3.5 -3482 0.2 EBF1 BATF JUNB NBN RUNX3 IFI16 lnc-AIM2-3 HSALNG0007745 PYHIN1
GH01J159084 Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 2.7 +87.2 87232 12.8 JUND CTCF REST CEBPB TRIM22 EP300 GABPA SMC3 NFE2 SPI1 MNDA AIM2 IFI16 RAD1P2 lnc-IFI16-1 lnc-OR10J3-2 PYDC5
GH01J158646 Enhancer 0.5 FANTOM5 Ensembl 5.3 -354.5 -354467 4.2 SPI1 REST SPTA1 OR10X1 IFI16 MN308820 MN308821 OR10Z1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around IFI16 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for IFI16

Top Transcription factor binding sites by QIAGEN in the IFI16 gene promoter:
  • AP-1
  • AREB6
  • ATF-2
  • c-Jun
  • CP2
  • Sp1
  • STAT1
  • STAT1alpha
  • STAT1beta
  • STAT5A

Genomic Locations for IFI16 Gene

Latest Assembly
chr1:158,999,968-159,055,155
(GRCh38/hg38)
Size:
55,188 bases
Orientation:
Plus strand

Previous Assembly
chr1:158,969,766-159,024,941
(GRCh37/hg19 by Entrez Gene)
Size:
55,176 bases
Orientation:
Plus strand

chr1:158,969,758-159,024,945
(GRCh37/hg19 by Ensembl)
Size:
55,188 bases
Orientation:
Plus strand

Genomic View for IFI16 Gene

Genes around IFI16 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IFI16 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IFI16 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IFI16 Gene

Proteins for IFI16 Gene

  • Protein details for IFI16 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q16666-IF16_HUMAN
    Recommended name:
    Gamma-interferon-inducible protein 16
    Protein Accession:
    Q16666
    Secondary Accessions:
    • B4DJT8
    • H3BLV7
    • Q59GX0
    • Q5T3W7
    • Q5T3W8
    • Q5T3X0
    • Q5T3X1
    • Q5T3X2
    • Q8N9E5
    • Q8NEQ7
    • Q96AJ5
    • Q9UH78

    Protein attributes for IFI16 Gene

    Size:
    785 amino acids
    Molecular mass:
    88256 Da
    Quaternary structure:
    • Forms homooligomers; isoform 2 can self-associate or associate with isoform 1 or isoform 3. Interacts with TMEM173, AIM2, PYCARD and CASP1. Interacts with BRCA1, TP53, E2F1, RB1 and SP1. Interacts with MTA1. Interacts with PYDC5 (PubMed:24531343).
    SequenceCaution:
    • Sequence=AAF20997.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=AAF20997.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305}; Sequence=BAC04462.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305}; Sequence=BAD92226.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=BAG58950.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
    Miscellaneous:
    • [Isoform 2]: Major isoform.

    Three dimensional structures from OCA and Proteopedia for IFI16 Gene

    Alternative splice isoforms for IFI16 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for IFI16 Gene

Post-translational modifications for IFI16 Gene

  • Ubiquitinated by human herpes simplex virus 1 (HHV-1) ICP0 protein; leading to degradation by the proteasome.
  • Lysine acetylation in the multipartite nuclear localization signal (NLS) regulates the subcellular location. In vitro can be acetylated by p300/EP300 coupled to cytoplasmic localization.
  • Phosphorylated on Ser and Thr.
  • Isoform 3 seems to show a minor degree of complex carbohydrate addition.
  • Glycosylation at Asn178
  • Ubiquitination at Lys128, Lys190, Lys143, Lys614, and Lys743
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

No data available for DME Specific Peptides for IFI16 Gene

Domains & Families for IFI16 Gene

Gene Families for IFI16 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for IFI16 Gene

InterPro:
Blocks:
  • Pyrin domain
  • HIN-200/IF120x domain

Suggested Antigen Peptide Sequences for IFI16 Gene

GenScript: Design optimal peptide antigens:
  • Interferon, gamma-inducible protein 16, isoform CRA_b (D3DUZ3_HUMAN)
  • Interferon-inducible myeloid differentiation transcriptional activator (IF16_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q16666

UniProtKB/Swiss-Prot:

IF16_HUMAN :
  • The HIN-20 domains mediates dsDNA binding via electrostatic interactions.
  • Belongs to the HIN-200 family.
Domain:
  • The HIN-20 domains mediates dsDNA binding via electrostatic interactions.
Family:
  • Belongs to the HIN-200 family.
genes like me logo Genes that share domains with IFI16: view

Function for IFI16 Gene

Molecular function for IFI16 Gene

UniProtKB/Swiss-Prot Function:
Binds double-stranded DNA. Binds preferentially to supercoiled DNA and cruciform DNA structures. Seems to be involved in transcriptional regulation. May function as a transcriptional repressor. Could have a role in the regulation of hematopoietic differentiation through activation of unknown target genes. Controls cellular proliferation by modulating the functions of cell cycle regulatory factors including p53/TP53 and the retinoblastoma protein. May be involved in TP53-mediated transcriptional activation by enhancing TP53 sequence-specific DNA binding and modulating TP53 phosphorylation status. Seems to be involved in energy-level-dependent activation of the ATM/ AMPK/TP53 pathway coupled to regulation of autophagy. May be involved in regulation of TP53-mediated cell death also involving BRCA1. May be involved in the senescence of prostate epithelial cells. Involved in innate immune response by recognizing viral dsDNA in the cytosol and probably in the nucleus. After binding to viral DNA in the cytoplasm recruits TMEM173/STING and mediates the induction of IFN-beta. Has anti-inflammatory activity and inhibits the activation of the AIM2 inflammasome, probably via association with AIM2. Proposed to bind viral DNA in the nucleus, such as of Kaposi's sarcoma-associated herpesvirus, and to induce the formation of nuclear caspase-1-activating inflammasome formation via association with PYCARD. Inhibits replication of herpesviruses such as human cytomegalovirus (HCMV) probably by interfering with promoter recruitment of members of the Sp1 family of transcription factors. Necessary to activate the IRF3 signaling cascade during human herpes simplex virus 1 (HHV-1) infection and promotes the assembly of heterochromatin on herpesviral DNA and inhibition of viral immediate-early gene expression and replication. Involved in the MTA1-mediated epigenetic regulation of ESR1 expression in breast cancer.
UniProtKB/Swiss-Prot Induction:
Strongly induced by IFNG/IFN-gamma and, to a lesser extent, by alpha interferon. In HL-60 cells, maximum induction by IFNG/IFN-gamma occurs within 12 hours whereas, for IFN-alpha, only 10-fold induction was observed after 36 hours. Induced in vitro by dimethylsulfoxide, retinoic acid and 1,25 dihydroxyvitamin D3. Induced in monocytes by IFN-alpha and viral dsDNA. Induced by glucose restriction.
GENATLAS Biochemistry:
nuclear protein,constitutively expressed in lymphocytes,interferon alpha or gamma inducible in myeloid cells (clone IFI-6-16)

Phenotypes From GWAS Catalog for IFI16 Gene

Gene Ontology (GO) - Molecular Function for IFI16 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IDA 24413532
GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific IDA 24413532
GO:0003677 DNA binding IEA --
GO:0003690 double-stranded DNA binding IDA 7536752
GO:0003723 RNA binding HDA 22658674
genes like me logo Genes that share ontologies with IFI16: view
genes like me logo Genes that share phenotypes with IFI16: view

Animal Models for IFI16 Gene

MGI Knock Outs for IFI16:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IFI16

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for IFI16 Gene

Localization for IFI16 Gene

Subcellular locations from UniProtKB/Swiss-Prot for IFI16 Gene

Nucleus. Cytoplasm. Note=Cellular distribution is dependent on the acetylation status of the multipartite nuclear localization signal (NLS). NLS acetylation promotes cytoplasmic localization. Localizes in the nucleus during human herpes simplex virus 1 (HHV-1) infection.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for IFI16 gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 2
extracellular 2
mitochondrion 2
endoplasmic reticulum 2
endosome 2
lysosome 2
cytoskeleton 1
peroxisome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (3)
  • Nucleoplasm (3)
  • Cytosol (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for IFI16 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 7536752
GO:0005654 nucleoplasm IDA 14654789
GO:0005730 nucleolus IDA 14654789
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IDA,TAS --
genes like me logo Genes that share ontologies with IFI16: view

Pathways & Interactions for IFI16 Gene

genes like me logo Genes that share pathways with IFI16: view

Pathways by source for IFI16 Gene

SIGNOR curated interactions for IFI16 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for IFI16 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IMP 22046441
GO:0001819 positive regulation of cytokine production TAS 22046441
GO:0002218 activation of innate immune response IEA,IDA 21575908
GO:0002376 immune system process IEA --
GO:0006914 autophagy IEA --
genes like me logo Genes that share ontologies with IFI16: view

Drugs & Compounds for IFI16 Gene

(1) Drugs for IFI16 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for IFI16 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with IFI16: view

Transcripts for IFI16 Gene

mRNA/cDNA for IFI16 Gene

8 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IFI16

Alternative Splicing Database (ASD) splice patterns (SP) for IFI16 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b ^ 8a · 8b · 8c ^ 9a · 9b ^ 10 ^ 11a · 11b · 11c · 11d ^ 12 ^ 13 ^ 14a · 14b · 14c ^
SP1:
SP2: -
SP3: - -
SP4:
SP5: - -
SP6: -
SP7: -
SP8: - - - -
SP9: -
SP10:
SP11: - - -
SP12:

ExUns: 15a · 15b · 15c ^ 16a · 16b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10: -
SP11:
SP12:

Relevant External Links for IFI16 Gene

GeneLoc Exon Structure for
IFI16

Expression for IFI16 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for IFI16 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for IFI16 Gene

This gene is overexpressed in Whole Blood (x5.9).

Protein differential expression in normal tissues from HIPED for IFI16 Gene

This gene is overexpressed in Lymph node (12.9) and Peripheral blood mononuclear cells (9.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for IFI16 Gene



Protein tissue co-expression partners for IFI16 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for IFI16

SOURCE GeneReport for Unigene cluster for IFI16 Gene:

Hs.380250

mRNA Expression by UniProt/SwissProt for IFI16 Gene:

Q16666-IF16_HUMAN
Tissue specificity: Expressed in peripheral blood leukocytes, fibroblasts and lymphoid cells. Present in myeloid precursors (CD34+) and throughout monocyte development, but its expression is down-regulated in erythroid and polymorphonuclear precursor cells. Present in prostate, ovary and breast (at protein level).

Evidence on tissue expression from TISSUES for IFI16 Gene

  • Nervous system(4.7)
  • Blood(4.6)
  • Bone marrow(4.5)
  • Liver(4.4)
  • Skin(3.3)
  • Spleen(3.3)
  • Lung(3.2)
  • Lymph node(3.2)
  • Intestine(2.8)
  • Heart(2.7)
  • Kidney(2.5)
  • Muscle(2.2)
  • Stomach(2)
genes like me logo Genes that share expression patterns with IFI16: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for IFI16 Gene

Orthologs for IFI16 Gene

This gene was present in the common ancestor of mammals.

Orthologs for IFI16 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia IFI16 29 30
  • 99.27 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Pydc4 29
  • 65.77 (n)
BC094916 30
  • 37 (a)
ManyToMany
Ifi203 16
Ifi203-ps 16
Ifi204 16
Ifi205 16
Ifi206 16
Ifi207 16
Ifi208 16
Ifi209 16
Ifi211 16
Ifi213 16
Ifi214 16
Mndal 16
Rat
(Rattus norvegicus)
Mammalia Mnda 29
  • 65.29 (n)
Cow
(Bos Taurus)
Mammalia -- 30
  • 31 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia -- 30
  • 30 (a)
OneToMany
Dog
(Canis familiaris)
Mammalia -- 30
  • 21 (a)
ManyToMany
Species where no ortholog for IFI16 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for IFI16 Gene

ENSEMBL:
Gene Tree for IFI16 (if available)
TreeFam:
Gene Tree for IFI16 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for IFI16: view image
Alliance of Genome Resources:
Additional Orthologs for IFI16

Paralogs for IFI16 Gene

Paralogs for IFI16 Gene

(3) SIMAP similar genes for IFI16 Gene using alignment to 7 proteins:

  • IF16_HUMAN
  • D3DUZ3_HUMAN
  • E7EPR3_HUMAN
  • H3BM18_HUMAN
  • H3BR65_HUMAN
  • H3BR88_HUMAN
  • H3BVE6_HUMAN
genes like me logo Genes that share paralogs with IFI16: view

Variants for IFI16 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for IFI16 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs147301876 Benign: not provided 159,045,460(+) C/T
NM_001376587.1(IFI16):c.1493C>T (p.Thr498Ile)
MISSENSE_VARIANT,INTRON
rs1057018 -- p.Asp103His
rs1057027 -- p.Arg409Ser
rs1057028 -- p.Tyr413Asn
rs11585341 -- p.Lys202Glu

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for IFI16 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for IFI16 Gene

Variant ID Type Subtype PubMed ID
dgv603n54 CNV loss 21841781
dgv604n54 CNV loss 21841781
esv21466 CNV gain+loss 19812545
esv2718684 CNV deletion 23290073
esv2718696 CNV deletion 23290073
esv32912 CNV loss 17666407
esv33390 CNV gain 17666407
esv33763 CNV loss 17666407
esv3587690 CNV loss 21293372
esv3587691 CNV gain 21293372
esv6708 CNV loss 19470904
nsv3176 CNV deletion 18451855
nsv506961 OTHER sequence alteration 20534489
nsv825019 CNV loss 20364138
nsv825032 CNV loss 20364138
nsv952220 CNV duplication 24416366

Variation tolerance for IFI16 Gene

Residual Variation Intolerance Score: 74.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.58; 72.33% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for IFI16 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
IFI16
Leiden Open Variation Database (LOVD)
IFI16

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IFI16 Gene

Disorders for IFI16 Gene

MalaCards: The human disease database

(7) MalaCards diseases for IFI16 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
herpes simplex
  • herpesvirus hominis disease
genital herpes
  • genital herpes simplex
retinoblastoma
  • rb1
chilblain lupus 1
  • chbl1
aicardi-goutieres syndrome
  • cree encephalitis
- elite association - COSMIC cancer census association via MalaCards
Search IFI16 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for IFI16

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with IFI16: view

No data available for UniProtKB/Swiss-Prot and Genatlas for IFI16 Gene

Publications for IFI16 Gene

  1. Genomic organization of IFI16, an interferon-inducible gene whose expression is associated with human myeloid cell differentiation: correlation of predicted protein domains with exon organization. (PMID: 7959953) Trapani JA … Browne KA (Immunogenetics 1994) 2 3 4 22
  2. A novel gene constitutively expressed in human lymphoid cells is inducible with interferon-gamma in myeloid cells. (PMID: 1526658) Trapani JA … Dupont B (Immunogenetics 1992) 2 3 4 22
  3. Role of IFI 16, a member of the interferon-inducible p200-protein family, in prostate epithelial cellular senescence. (PMID: 12894224) Xin H … Choubey D (Oncogene 2003) 3 4 22
  4. Isotypic variants of the interferon-inducible transcriptional repressor IFI 16 arise through differential mRNA splicing. (PMID: 9718316) Johnstone RW … Trapani JA (Biochemistry 1998) 3 4 22
  5. The human interferon-inducible protein, IFI 16, is a repressor of transcription. (PMID: 9642285) Johnstone RW … Trapani JA (The Journal of biological chemistry 1998) 3 4 22

Products for IFI16 Gene

Sources for IFI16 Gene