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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

IFI30 Gene

protein-coding GIFtS: 59
GCID: GC19P018284

interferon, gamma-inducible protein 30

Explore 13 diseases affiliated with
IFI30 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Interferon, Gamma-Inducible Protein 30¹ ²		Gamma-Interferon-Inducible Lysosomal Thiol Reductase²
GILT¹ ² ³ ⁵		Interferon Gamma-Inducible Protein 30 Preproprotein²
IP30¹ ² ³		Legumaturain³
IFI-30¹ ²		EC 1.8.-.-³
Gamma-Interferon-Inducible Protein IP-30² ³		Legumaturain³
MGC32056¹

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 GC19P017848

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for IFI30:

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)

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

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000019.9 NC_018930.1 NT_011295.11

Regulatory elements:

SABiosciences 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 plasmid: IFI30 promoter sequence

Search SABiosciences Chromatin IP Primers for IFI30

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 GC19P018284: view genomic region (about GC identifiers)

Start:	18,284,579 bp from pter	End:	18,288,927 bp from pter
Size:	4,349 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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

Subcellular location: Secreted. Lysosome

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

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

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P13284

IFI30 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_006323.2

ENSEMBL proteins:

ENSP00000384886

Reactome Protein details: P13284
Human Recombinant Protein Products:

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	Novus Biologicals IFI30 Protein Novus Biologicals IFI30 Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for IFI30

Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	IEA	--
GO:0005764	lysosome	IDA	10639150
GO:0005886	plasma membrane	IDA	--
GO:0030054	cell junction	IDA	--
GO:0043202	lysosomal lumen	TAS	--

IFI30 for ontologies About GeneDecksing

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Assay Products for IFI30:

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	Uscn ELISAs and CLIAs for IFI30

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

IFI30 for domains About GeneDecksing

1 InterPro domain/family:

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

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

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)

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

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		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat IFI30
		4 QIAGEN miScript miRNA Assays for microRNAs that regulate IFI30:
		hsa-miR-29a hsa-miR-29c hsa-miR-767-5p hsa-miR-29b
		SwitchGear 3'UTR luciferase reporter plasmid: IFI30 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for IFI30 (see all 7) OriGene shRNA RFP: IFI30 OriGene siRNA: IFI30
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Gene Editing
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		GenScript: all cDNA clones in your preferred vector: IFI30 (NM_006332)
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		DNA2.0 Custom Codon Optimized Gene Synthesis Service for IFI30
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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for IFI30
		Search LifeMap BioReagents cell lines for IFI30

In Situ Assay
Products:

Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for IFI30

Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0016667	oxidoreductase activity, acting on a sulfur group of donors	IMP	10639150

IFI30 for ontologies About GeneDecksing

3 GenomeRNAi human phenotypes for IFI30:

Decreased nuclei size in G2M

Increased S DNA content, incre

S arrest

Animal Models:
Mouse knock-out Ifi30^tm1Cres for IFI30
1 MGI mutant phenotype (inferred from 1 allele) (MGI details for Ifi30):

immune system

IFI30 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/6 super-pathways (see all 6) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Immune response_Antigen presentation by MHC class II

Immune response_Antigen presentation by MHC class II

1.00

Immune response Antigen presentation by MHC class II

0.76

Cytokine Signaling in Immune system

Cytokine Signaling in Immune system

1.00

Interferon Signaling

0.61

Immune System

Immune System

1.00

Adaptive Immune System

0.59

Interferon gamma signaling

Interferon gamma signaling

1.00

Expression of IFNG-stimulated genes

0.72

MHC class II antigen presentation

MHC class II antigen presentation

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for IFI30

Immune response Antigen presentation by MHC class II

1 GeneGo (Thomson Reuters) Pathway for IFI30

Immune response Antigen presentation by MHC class II

5/7 Reactome Pathways for IFI30 (see all 7)

	Interferon gamma signaling
	Cytokine Signaling in Immune system
	Expression of IFNG-stimulated genes
	Interferon Signaling
	Adaptive Immune System

1 Kegg Pathway (Kegg details for IFI30):

Antigen processing and presentation

IFI30 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for IFI30

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

5/41 Interacting proteins for IFI30 (ENSP00000384886⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 41)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
B2M	ENSP00000340858⁴	STRING: ENSP00000340858
CD44	ENSP00000278385⁴	STRING: ENSP00000278385
CIITA	ENSP00000316328⁴	STRING: ENSP00000316328
CTSD	ENSP00000236671⁴	STRING: ENSP00000236671
CTSL1	ENSP00000345344⁴	STRING: ENSP00000345344

About this table

Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6): About this table

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

IFI30 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

IFI30 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for IFI30
1 Novoseek 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)

Search CenterWatch for drugs/clinical trials and news about IFI30 / GILT

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for IFI30 gene:

NM_006332.3

Unigene Cluster for IFI30:

Interferon, gamma-inducible protein 30

Hs.14623 [show with all ESTs]

Unigene Representative Sequence: AK123477

1 Ensembl transcript including schematic representation, and UCSC links where relevant:

ENST00000407280(uc002nic.1)

miRNA Products:		OriGene 3'-UTR Clone: IFI30 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat IFI30
		4 QIAGEN miScript miRNA Assays for microRNAs that regulate IFI30:
		hsa-miR-29a hsa-miR-29c hsa-miR-767-5p hsa-miR-29b
		SwitchGear 3'UTR luciferase reporter plasmid: IFI30 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat IFI30

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for IFI30 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, 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)
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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat IFI30
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat IFI30

Additional cDNA 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

24/662 AceView cDNA sequences (see all 662):

AI983936 AI074087 BE645825 AA988789 CK825966 AA984909 AA363718 BU732792

AA381663 H62355 CR617281 BQ056241 CF995228 AI188638 AW470911 BQ064165

BQ054772 BI523875 BF975868 AK123477 BM989132 AI267983 AU100505 BG759808

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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

IFI30 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: ATCAAGAATC

About this image

IFI30 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

2 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Eye

Inner Nuclear Layer

AII Amacrine Cells

Amacrine, Retina

Umbilical Cord

Umbilical Veins

Umbilical Cord

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See IFI30 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for IFI30

SOURCE GeneReport for Unigene cluster: Hs.14623

SABiosciences Expression via Pathway-Focused PCR Arrays including IFI30:

Interferons & Receptors in human mouse rat

Type I Interferon Response in human mouse rat

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat IFI30

In Situ
Assay Products:

Search Advanced Cell Diagnostics for 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)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for IFI30 gene from 9/22 species (see all 22) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Ifi30^{1 , 5}	interferon gamma inducible protein 30^{1, 5}	70.34(n)¹ 64.08(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_418246.3 XP_418246.2
lizard (Anolis carolinensis)	Reptilia	IFI30⁶	--	41(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	LOC565583¹	gamma-interferon-inducible lysosomal thiol reductase-like	58.24(n) 54.3(a)		565583 XM_688852.3 XP_693944.2
fruit fly (Drosophila melanogaster)	Insecta	CG41378¹	CG41378	41.92(n) 32.52(a)		5740475 NM_001170365.1 NP_001163836.1
worm (Caenorhabditis elegans)	Secernentea	F37H8.5¹	Protein F37H8.5	48.92(n) 37.28(a)		3564874 NM_063996.2 NP_496397.1
thale cress (Arabidopsis thaliana)	eudicotyledons	AT1G07080¹	GILT domain-containing protein	47.87(n) 37.23(a)		837219 NM_100582.3 NP_563779.1
rice (Oryza sativa)	Liliopsida	Os03g0295800¹	hypothetical protein	53.49(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)
About This Section

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 19 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs273268^1,2	C,F,H,	--	18282586(+)	`CACTGC/TGACGT`	1	--	us2k¹		9		NS EA NA CSA	900
rs75821091^1,2	F,	--	18282590(+)	`GCGACG/ATCATT`	1	--	us2k¹		3		WA NA EA	358
rs117257370^1,2	F,	--	18282792(+)	`ACTGTC/ACCTGC`	1	--	us2k¹		1		NA	120
rs887945^1,2	C,F,A,H,	--	18282895(+)	`TTATGA/GTCCCA`	1	--	us2k¹		15		MN NA EA CSA WA	921
rs186549694^1,2		--	18282932(+)	`AATATC/TCCGTG`	1	--	us2k¹		0	--	--	--	--
rs11668950^1,2	C,F,H,	--	18282940(+)	`GTGTGG/ATCTCT`	1	--	us2k¹		8		NA WA EA	368
rs190297872^1,2		--	18282977(+)	`TCCTTA/GGCAAA`	1	--	us2k¹		0	--	--	--	--
rs7259445^1,2	C,F,A,H,	--	18283011(+)	`CATTTA/CTTTGT`	1	--	us2k¹		10		NA CSA WA EA	375
rs273267^1,2		--	18283054(+)	`CCCCAA/GCTGGA`	1	--	us2k¹		2		MN NA	186
rs182494775^1,2		--	18283236(+)	`CACCCA/GGCATA`	1	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for IFI30 (18284579 - 18288927 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for IFI30
2 CNVs: 5093 5092
Human Gene Mutation Database (HGMD): IFI30

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

IFI30 for disorders           About GeneDecksing

OMIM gene information: 604664    OMIM disorders: --

13 diseases for IFI30:    About MalaCards

neuromyelitis optica devic disease endometritis multiple sclerosis

diarrhea hyperglycemia myopathy influenza

melanoma glioblastoma obesity immunodeficiency

prostatitis

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

Endometritis

2 Novoseek 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)

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)
About This Section

PubMed articles for IFI30 gene, integrated from 9 sources (see all 41):
(articles sorted by number of sources associating them with IFI30)

Utopia: connect your pdf to the dynamic
world of online information

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. (2000)
Molecular and biochemical characterization of a novel gamma- interferon-inducible protein. (PubMed id 3136170)^{1, 2, 3} Luster A.D.... Ravetch J.V. (1988)
Gamma-interferon-inducible lysosomal thiol reductase (GILT). Maturation, activity, and mechanism of action. (PubMed id 10852914)^{1, 2, 9} Phan U.T....Cresswell P. (2000)
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. (2002)
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. (2008)
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. (2002)
Neuromyelitis optica/Devic's disease: gene expression profiling of brain lesions. (PubMed id 18410276)^{1, 9} Satoh J....Konno H. (2008)
Multiple species express thiol oxidoreductases related to GILT. (PubMed id 11491538)^{1, 9} Phan U.T....Cresswell P. (2001)
A polymorphism of the interferon-gamma-inducible prot ein 30 gene is associated with hyperglycemia in severely obese individuals. (PubMed id 21701784)¹ Turcot V....Vohl M.C. (2012)
Initial characterization of the human central proteome. (PubMed id 21269460)² Burkard T.R.... Colinge J. (2011)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
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)
About This Section

Entrez Gene: 10437	HGNC: 5398	AceView: IFI30	Ensembl:ENSG00000216490	euGenes: HUgn10437
ECgene: IFI30	Kegg: 10437	H-InvDB: IFI30

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for IFI30	Pharmacogenomics, SNPs, Pathways

Intellectual Property for IFI30 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

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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interferon, gamma-inducible protein 30

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IFI30 Gene

interferon, gamma-inducible protein 30

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