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IFI30 Gene

protein-coding   GIFtS: 63
GCID: GC19P018401

Interferon, Gamma-Inducible Protein 30

Pneumococci & Pneumococcal Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Interferon, Gamma-Inducible Protein 301 2     IP302 3
GILT2 3 5     IFI-302
Gamma-Interferon-Inducible Lysosomal Thiol Reductase1 2     legumaturain2
Interferon Gamma-Inducible Protein 30 Preproprotein1 2     EC 1.8.-.-3
Gamma-Interferon-Inducible Protein IP-302 3     Legumaturain3

External Ids:    HGNC: 53981   Entrez Gene: 104372   Ensembl: ENSG000002164907   OMIM: 6046645   UniProtKB: P132843   

Export aliases for IFI30 gene to outside databases

Previous GC identifers: GC19P018778 GC19P018676 GC19P018129 GC19P018145 GC19P018284 GC19P017848


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for IFI30 Gene:
The protein encoded by this gene is a lysosomal thiol reductase that at low pH can reduce protein disulfide bonds.
The enzyme is expressed constitutively in antigen-presenting cells and induced by gamma-interferon in other cell
types. This enzyme has an important role in MHC class II-restricted antigen processing. (provided by RefSeq, Jul
2008)

GeneCards Summary for IFI30 Gene:
IFI30 (interferon, gamma-inducible protein 30) is a protein-coding gene. Diseases associated with IFI30 include devic disease, and neuromyelitis optica. GO annotations related to this gene include oxidoreductase activity, acting on a sulfur group of donors.

UniProtKB/Swiss-Prot: GILT_HUMAN, P13284
Function: Lysosomal thiol reductase that can reduce protein disulfide bonds. May facilitate the complete unfolding
of proteins destined for lysosomal degradation. Plays an important role in antigen processing. Facilitates the
generation of MHC class II-restricted epitodes from disulfide bond-containing antigen by the endocytic reduction
of disulfide bonds (By similarity). Facilitates also MHC class I-restricted recognition of exogenous antigens
containing disulfide bonds by CD8+ T-cells or crosspresentation (By similarity)

Gene Wiki entry for IFI30 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000019.10  NC_018930.2  NT_011295.12  
Regulatory elements:
   Regulatory transcription factor binding sites in the IFI30 gene promoter:
         USF1   Pax-5   Egr-1   MyoD   LCR-F1   CBF-B   CBF-A   USF-1   NF-kappaB1   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidIFI30 promoter sequence
   Search Chromatin IP Primers for IFI30

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat IFI30


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19p13.1   Ensembl cytogenetic band:  19p13.11   HGNC cytogenetic band: 19p13.1

IFI30 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
IFI30 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P018401:  view genomic region     (about GC identifiers)

Start:
18,283,972 bp from pter      End:
18,288,927 bp from pter
Size:
4,956 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: GILT_HUMAN, P13284 (See protein sequence)
Recommended Name: Gamma-interferon-inducible lysosomal thiol reductase precursor  
Size: 250 amino acids; 27964 Da
Subunit: Dimer; disulfide-linked
Miscellaneous: Both precursor form and mature form have thiol reductase activity
Sequence caution: Sequence=AAA36105.1; Type=Erroneous termination; Positions=251; Note=Translated as stop;
Sequence=AAA36105.1; Type=Frameshift; Positions=146, 174; Sequence=AAA36105.1; Type=Miscellaneous discrepancy;
Note=Chimeric cDNA. N-terminal sequence identical to a region of chromosome 11; Sequence=AAF04618.1;
Type=Miscellaneous discrepancy; Note=Chimeric cDNA. N-terminal sequence identical to a region of chromosome 11;
Secondary accessions: Q76MF9 Q8NEI4 Q8WU77 Q9UL08

Explore the universe of human proteins at neXtProt for IFI30: NX_P13284

Explore proteomics data for IFI30 at MOPED

Post-translational modifications: 

  • N-glycosylated. Sugar chains contain mannose-6-phosphate1
  • Synthesized as a 35 kDa precursor which is then processed into the mature 30 kDa form via cleavage of N-terminal
    and C-terminal propeptides. Processing of the precursor is mediated by multiple lysosomal proteases1
  • Glycosylation2 at Asn63, Asn95, Asn108
  • Modification sites at PhosphoSitePlus

  • See IFI30 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_006323.2  
    ENSEMBL proteins: 
     ENSP00000470527   ENSP00000384886  
    Reactome Protein details: P13284

    IFI30 Human Recombinant Protein Products:

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    Novus Biologicals IFI30 Proteins
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    Sino Biological Recombinant Protein for IFI30
    Sino Biological Cell Lysate for IFI30
    ProSpec Recombinant Protein for IFI30
    Cloud-Clone Corp. Proteins for IFI30

    IFI30 Antibody Products:

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    IFI30 Assay Products:

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    GenScript Custom Assay Services for IFI30
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for IFI30
    Cloud-Clone Corp. CLIAs for IFI30


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR004911 Interferon-induced_GILT

    Graphical View of Domain Structure for InterPro Entry P13284

    ProtoNet protein and cluster: P13284

    UniProtKB/Swiss-Prot: GILT_HUMAN, P13284
    Similarity: Belongs to the GILT family


    IFI30 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: GILT_HUMAN, P13284
    Function: Lysosomal thiol reductase that can reduce protein disulfide bonds. May facilitate the complete unfolding
    of proteins destined for lysosomal degradation. Plays an important role in antigen processing. Facilitates the
    generation of MHC class II-restricted epitodes from disulfide bond-containing antigen by the endocytic reduction
    of disulfide bonds (By similarity). Facilitates also MHC class I-restricted recognition of exogenous antigens
    containing disulfide bonds by CD8+ T-cells or crosspresentation (By similarity)
    Biophysicochemical properties: Kinetic parameters: KM=1200 uM for F(ab')2 fragment when denatured; KM=10 uM for
    F(ab')2 fragment; Note=Kinetic parameters shown are for mature enzyme; pH dependence: Optimum pH is 4-5;
    Induction: Expressed constitutively in antigen-presenting cells and induced by IFN-gamma in other cell types

         Genatlas biochemistry entry for IFI30:
    interferon, gamma-inducible protein 30,present and inducible by gamma-interferon (IFN gamma) in cells of the
    hematopoietic lineage and absent but inducible in non-hematopoietic cells,may be lysosomal in location.

         Enzyme Number (IUBMB): EC 1.8.-.-1

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016667oxidoreductase activity, acting on a sulfur group of donors IMP10639150
         
    IFI30 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for IFI30:
     Decreased nuclei size in G2M  Increased S DNA content, incre  S arrest 

         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Ifi30):
     immune system 

    IFI30 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Ifi30tm1Cres for IFI30

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for IFI30
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for IFI30
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for IFI30

    miRNA
    Products:
        
    miRTarBase miRNAs that target IFI30:
    hsa-mir-149-5p (MIRT045663)

    Block miRNA regulation of human, mouse, rat IFI30 using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate IFI30:
    hsa-miR-29a hsa-miR-29c hsa-miR-767-5p hsa-miR-29b
    SwitchGear 3'UTR luciferase reporter plasmidIFI30 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for IFI30
    Predesigned siRNA for gene silencing in human, mouse, rat IFI30

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for IFI30

    Clone
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    OriGene clones in human, mouse for IFI30 (see all 7)
    OriGene ORF clones in mouse, rat for IFI30
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: IFI30 (NM_006332)
    Sino Biological Human cDNA Clone for IFI30
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for IFI30
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat IFI30

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IFI30


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    GILT_HUMAN, P13284: Secreted. Lysosome
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    lysosome5
    vacuole5
    plasma membrane4
    nucleus2
    cytosol1
    endosome1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--
    GO:0005737cytoplasm IDA--
    GO:0005764lysosome IDA10639150
    GO:0005886plasma membrane IDA--
    GO:0030054cell junction IDA--

    IFI30 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for IFI30 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Interferon Signaling
    Interferon Signaling0.59
    Interferon gamma signaling0.41
    Cytokine Signaling in Immune system0.59
    2Immune response Antigen presentation by MHC class II
    Immune response Antigen presentation by MHC class II0.46
    3Class I MHC mediated antigen processing and presentation
    Adaptive Immune System0.41
    4Allograft rejection
    Antigen processing and presentation0.36
    5MHC class II antigen presentation
    MHC class II antigen presentation

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for IFI30
        Immune response Antigen presentation by MHC class II


    2 Reactome Pathways for IFI30
        Interferon gamma signaling
    MHC class II antigen presentation


    1 Kegg Pathway  (Kegg details for IFI30):
        Antigen processing and presentation


    IFI30 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including IFI30: 
              Interferons & Receptors in human mouse rat
              Type I Interferon Response in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for IFI30

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for IFI30 (ENSP000003848864) via UniProtKB, MINT, STRING, and/or I2D (see all 42)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    B2MENSP000003408584STRING: ENSP00000340858
    CD44ENSP000002783854STRING: ENSP00000278385
    CIITAENSP000003163284STRING: ENSP00000316328
    CTSDENSP000002366714STRING: ENSP00000236671
    CTSFENSP000003108324STRING: ENSP00000310832
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0019221cytokine-mediated signaling pathway TAS--
    GO:0019886antigen processing and presentation of exogenous peptide antigen via MHC class II TAS--
    GO:0042590antigen processing and presentation of exogenous peptide antigen via MHC class I ISS--
    GO:0048147negative regulation of fibroblast proliferation IEA--
    GO:0050821protein stabilization IEA--

    IFI30 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for IFI30 (GILT)

    1 Novoseek inferred chemical compound relationship for IFI30 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cysteine 19.5 2 18235043 (2)



    IFI30 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for IFI30 gene: 
    NM_006332.4  

    Unigene Cluster for IFI30:

    Interferon, gamma-inducible protein 30
    Hs.14623  [show with all ESTs]
    Unigene Representative Sequence: AK123477
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000597802 ENST00000407280(uc002nic.1) ENST00000600463

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat IFI30 using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate IFI30:
    hsa-miR-29a hsa-miR-29c hsa-miR-767-5p hsa-miR-29b
    SwitchGear 3'UTR luciferase reporter plasmidIFI30 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for IFI30
    Predesigned siRNA for gene silencing in human, mouse, rat IFI30
    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: IFI30 (NM_006332)
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    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for IFI30
    OriGene qSTAR qPCR primer pairs in human, mouse for IFI30
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat IFI30
      QuantiTect SYBR Green Assays in human, mouse, rat IFI30
      QuantiFast Probe-based Assays in human, mouse, rat IFI30

    Additional mRNA sequence: 

    AB049659.1 AF401212.1 AK123477.1 AK291551.1 BC021136.1 BC031020.1 DQ884410.1 

    17 DOTS entries:

    DT.92357957  DT.92448454  DT.92448452  DT.100826104  DT.100826103  DT.95346751  DT.100826085  DT.100826094 
    DT.100826098  DT.92448449  DT.100826087  DT.95346753  DT.100826093  DT.121450182  DT.92448416  DT.95246806 
    DT.100826089 

    Selected AceView cDNA sequences (see all 662):

    BQ059523 CF995228 AF401212 BI822113 BP431332 AJ572034 AA363718 CA310405 
    AI267983 BI523875 AA988789 BF992579 AI983936 AL555304 AI188496 BU626998 
    BM785186 CR622693 AI922162 BU732792 BI837864 BM051579 BM989132 BQ064165 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    IFI30 expression in normal human tissues (normalized intensities)      IFI30 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATCAAGAATC
    IFI30 Expression
    About this image


    IFI30 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Blood (Cardiovascular System)    fully expand to see all 2 entries
             Monocytes Peripheral Blood
     
     Umbilical Cord (Extraembryonic Tissues)
             Umbilical Veins
     
     Neurons
             AII Amacrine Cells Inner Nuclear Layer
     
     Epiblast (Early Embryonic Tissues)
             Epiblast Stem Cell line 5
     
     Eye (Sensory Organs)
             AII Amacrine Cells Inner Nuclear Layer
    IFI30 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    IFI30 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.14623
        Pathway & Disease-focused RT2 Profiler PCR Arrays including IFI30: 
              Interferons & Receptors in human mouse rat
              Type I Interferon Response in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for IFI30
    OriGene qSTAR qPCR primer pairs in human, mouse for IFI30
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat IFI30
    QuantiTect SYBR Green Assays in human, mouse, rat IFI30
    QuantiFast Probe-based Assays in human, mouse, rat IFI30
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IFI30

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for IFI30 gene from Selected species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ifi301 , 5 interferon gamma inducible protein 301, 5 72.62(n)1
    66.67(a)1
      8 (34.15 cM)5
    659721  NM_023065.31  NP_075552.21 
     707627745 
    chicken
    (Gallus gallus)
    Aves IFI301 interferon, gamma-inducible protein 30 62.96(n)
    55.03(a)
      420129  XM_004948911.1  XP_004948968.1 
    lizard
    (Anolis carolinensis)
    Reptilia IFI306
    interferon, gamma-inducible protein 30
    44(a)
    1 ↔ 1
    AAWZ02037391(9758-14216)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.131092 Xenopus laevis transcribed sequence with weak similarity more 74.69(n)    BQ734804.1 
    zebrafish
    (Danio rerio)
    Actinopterygii IFI30 (2 of 2)6
    ifi306
    interferon gamma inducible protein 30
    38(a)
    37(a)
    many → 1
    many → 1
    11(7497028-7502275) ENSDARG00000075629
    2(24532156-24537059) ENSDARG00000056378
    fruit fly
    (Drosophila melanogaster)
    Insecta CG413781 CG41378 41.92(n)
    32.52(a)
      5740475  NM_001170365.2  NP_001163836.1 
    worm
    (Caenorhabditis elegans)
    Secernentea F37H8.56
    R07E5.46
    (see all 7)
    Protein R07E5.4 (R07E5.4) mRNA, complete cds
    (see all 7)
    25(a)
    22(a)
    (see all 7)
    many → 1
    many → 1
    (see all 7)
    II(11188206-11189440) WBGene00009514
    III(4394794-4396616) WBGene00011112
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G070801 AT1G07080 47.7(n)
    37.23(a)
      837219  NM_100582.3  NP_563779.1 
    rice
    (Oryza sativa)
    Liliopsida Os03g02958001 Os03g0295800 53.68(n)
    41.28(a)
      4332535  NM_001056362.1  NP_001049827.1 


    ENSEMBL Gene Tree for IFI30 (if available)
    TreeFam Gene Tree for IFI30 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for IFI30 (see all 179)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2732681,2
    C,F,H--18282586(+) CACTGC/TGACGT 1 -- us2k19Minor allele frequency- T:0.01NS EA NA CSA 900
    rs758210911,2
    C,F--18282590(+) GCGACG/ATCATT 1 -- us2k13Minor allele frequency- A:0.06WA NA EA 358
    rs1172573701,2
    C,F--18282792(+) ACTGTC/ACCTGC 1 -- us2k11Minor allele frequency- A:0.02NA 120
    rs8879451,2
    C,F,A,H--18282895(+) TTATGA/GTCCCA 1 -- us2k115Minor allele frequency- G:0.22MN NA EA CSA WA 921
    rs1865496941,2
    --18282932(+) AATATC/TCCGTG 1 -- us2k10--------
    rs116689501,2
    C,F,H--18282940(+) GTGTGG/ATCTCT 1 -- us2k18Minor allele frequency- A:0.17NA WA EA 368
    rs1902978721,2
    --18282977(+) TCCTTA/GGCAAA 1 -- us2k10--------
    rs72594451,2
    C,F,A,H--18283011(+) CATTTA/CTTTGT 1 -- us2k110Minor allele frequency- C:0.23NA CSA WA EA 375
    rs2732671,2
    C,F--18283054(+) CCCCAA/GCTGGA 1 -- us2k12Minor allele frequency- G:0.00MN NA 186
    rs1824947751,2
    --18283236(+) CACCCA/GGCATA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for IFI30 (18283972 - 18288927 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for IFI30 (see all 11):    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv911256CNV Loss21882294
    nsv911254CNV Loss21882294
    nsv833773CNV Loss17160897
    dgv3773n71CNV Loss21882294
    nsv833774CNV Loss17160897
    nsv911260CNV Loss21882294
    dgv3772n71CNV Loss21882294
    dgv3771n71CNV Loss21882294
    nsv833775CNV Loss17160897
    dgv3774n71CNV Loss21882294

    Human Gene Mutation Database (HGMD): IFI30
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing IFI30
    DNA2.0 Custom Variant and Variant Library Synthesis for IFI30

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 604664    OMIM disorders: --

    12 diseases for IFI30:    About MalaCards
    devic disease    neuromyelitis optica    endometritis    diarrhea
    hyperglycemia    myopathy    influenza    melanoma
    multiple sclerosis    obesity    malaria    prostatitis

    1 disease from the University of Copenhagen DISEASES database for IFI30:
    Endometritis

    IFI30 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014

    2 Novoseek inferred disease relationships for IFI30 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    melanoma 32.3 13 18343923 (4), 20016802 (3), 12021307 (2), 16181338 (1) (see all 5)
    tumors 0 7 16181338 (1), 18343923 (1), 12021307 (1), 15240658 (1)

    Genetic Association Database (GAD): IFI30
    Human Genome Epidemiology (HuGE) Navigator: IFI30 (1 document)

    Export disorders for IFI30 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for IFI30 gene, integrated from 10 sources (see all 42):
    (articles sorted by number of sources associating them with IFI30)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Enzymatic reduction of disulfide bonds in lysosomes: characterization of a gamma-interferon-inducible lysosomal thiol reductase (GILT). (PubMed id 10639150)1, 2, 3, 9 Arunachalam B.... Cresswell P. (Proc. Natl. Acad. Sci. U.S.A. 2000)
    2. Molecular and biochemical characterization of a novel gamma- interferon-inducible protein. (PubMed id 3136170)1, 2, 3 Luster A.D.... Ravetch J.V. (J. Biol. Chem. 1988)
    3. Gamma-interferon-inducible lysosomal thiol reductase (GILT). Maturation, activity, and mechanism of action. (PubMed id 10852914)1, 2, 9 Phan U.T.... Cresswell P. (J. Biol. Chem. 2000)
    4. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PubMed id 19240061)1, 4 Trynka G....Wijmenga C. (Gut 2009)
    5. Role of the C-terminal propeptide in the activity and maturation of gamma -interferon-inducible lysosomal thiol reductase (GILT). (PubMed id 12198183)1, 9 Phan U.T....Cresswell P. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    6. Gamma-IFN-inducible-lysosomal thiol reductase modulates acidic proteases and HLA class II antigen processing in melanoma. (PubMed id 18343923)1, 9 Goldstein O.G....Haque A. (Cancer Immunol. Immunother. 2008)
    7. Absence of gamma-interferon-inducible lysosomal thiol reductase in melanomas disrupts T cell recognition of select immunodominant epitopes. (PubMed id 12021307)1, 9 Haque M.A....Blum J.S. (J. Exp. Med. 2002)
    8. Neuromyelitis optica/Devic's disease: gene expression profiling of brain lesions. (PubMed id 18410276)1, 9 Satoh J....Konno H. (Neuropathology 2008)
    9. Multiple species express thiol oxidoreductases related to GILT. (PubMed id 11491538)1, 9 Phan U.T....Cresswell P. (Immunogenetics 2001)
    10. Expanding roles for GILT in immunity. (PubMed id 23246037)1 West L.C. and Cresswell P. (Curr. Opin. Immunol. 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 10437 HGNC: 5398 AceView: IFI30 Ensembl:ENSG00000216490 euGenes: HUgn10437
    ECgene: IFI30 Kegg: 10437 H-InvDB: IFI30

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for IFI30 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for IFI30 gene:
    Search GeneIP for patents involving IFI30

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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