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IFNGR2 Gene

protein-coding   GIFtS: 59

GC21P020243
interferon gamma receptor 2 (interferon gamma transducer 1)
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: IFNGT1)
Products    

Aliases &
Descriptions
for IFNGR2 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase, and/or 9Nature:405,311-319 and CroW21)
About This Section
Aliases & Descriptions
interferon gamma receptor 2 (interferon gamma transducer 1)1 2     IFGR22 5
AF-11 2 3     interferon gamma receptor beta chain2
IFNGT12 3 5     OTTHUMP000000677512
Interferon gamma transducer 12 3     interferon gamma receptor accessory factor-12
Interferon gamma receptor accessory factor 12 3     interferon gamma receptor 22
IFN-gamma-R22 3     interferon-gamma receptor beta chain precursor9
IFN-gamma receptor 22 3     

External Ids:    HGNC: 54401   Entrez Gene: 34602   Ensembl: ENSG000001591287   UniProtKB: P384843   

Export aliases for IFNGR2 gene to outside databases

Previous GC identifers: GC21P031352 GC21P031435 GC21P033695 GC21P033697 GC21P034757


Summaries
for IFNGR2 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for IFNGR2:
This gene (IFNGR2) encodes the non-ligand-binding beta chain of the gamma interferon receptor. Human interferon-gamma
receptor is a heterodimer of IFNGR1 and IFNGR2. Defects in IFNGR2 are a cause of mendelian susceptibility to
mycobacterial disease (MSMD), also known as familial disseminated atypical mycobacterial infection. MSMD is a
genetically heterogeneous disease with autosomal recessive, autosomal dominant or X-linked inheritance. (provided by
RefSeq)

UniProtKB/Swiss-Prot: INGR2_HUMAN, P38484
Function: Part of the receptor for interferon gamma. Required for signal transduction. This accessory factor is an
integral part of the IFN-gamma signal transduction pathway and is likely to interact with GAF, JAK1, and/or JAK2


Genomic Views
for IFNGR2 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 60), Regulatory elements and Epigenetics data according to Qiagen and/or SABiosciences, Whole Chromsome Sequence According to Nature (Cited Here with Permission):405,311-319 and CroW21)
About This Section

Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the IFNGR2 gene promoter:
         STAT1beta   STAT1alpha   STAT1   IRF-1   C/EBPalpha   STAT2   STAT3   STAT4   STAT5A   STAT5B   
         Other transcription factors

   Search SABiosciences Chromatin IP Primers for IFNGR2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for IFNGR2 


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

Entrez Gene cytogenetic band: 21q22.11   Ensembl cytogenetic band:  21q22.11   HGNC cytogenetic band: 21q22.1
Nature(405: 311-319) cytogenetic band:   21q22.11
IFNGR2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
IFNGR2 gene location
GeneLoc gene densities for chromosome 21         GeneLoc Exon Structure

(about GC identifiers)
GC21P020243:   GeneLoc Nature:405,311-319
Start:
 20,243,995 bp from pter       20,351,850 bp from centromere
End:
 20,278,386 bp from pter 20,386,468 bp from centromere
Size:
 34,392 bases 34,619 bases
Orientation:
 plus strand plus strand

2 alternative locations:
Chr21+,PATCHES 34,782,407-34,805,049      Chr21+ 34,757,299-34,851,655     
RefSeq DNA sequence:
NC_000021.8  NT_011512.11  

Whole chromosome sequencing:
cDNA sequence: U05875
genomic clones: PQ102G11 PPACB5


Proteins
for IFNGR2 gene

(According to 1UniProtKB, neXtProt, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, and/or ProSpec,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Dec 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, and/or Epitomics)
About This Section
UniProtKB/Swiss-Prot: INGR2_HUMAN, P38484 (See protein sequence)
Recommended Name: Interferon gamma receptor 2 precursor  
Size: 337 amino acids; 37806 Da
Subcellular location: Membrane; Single-pass type I membrane protein
Secondary accessions: Q9BTL5

Explore the universe of human proteins at neXtProt for IFNGR2: NX_P38484 

REFSEQ proteins: NP_005525.2  

ENSEMBL proteins: 
ENSP00000407541 ENSP00000414168 ENSP00000371425 ENSP00000290219 ENSP00000385044 ENSP00000402629 


Human Recombinant Proteins 
Browse Purified and Recombinant Proteins at Millipore
Browse Human Recombinant Proteins at Sigma-Aldrich
Browse R&D Systems for human recombinant proteins
Browse recombinant and purified proteins available from Enzo Life Sciences
OriGene Purified Protein: IFNGR2
OriGene Protein Over-expression Lysate: IFNGR2
GenScript Custom Purified and Recombinant Proteins Services for IFNGR2 
Novus Biologicals Proteins for IFNGR2
Novus Biologicals Lysates for IFNGR2
Browse Sino Biological Recombinant Proteins
Browse ProSpec Recombinant Proteins

3 Gene Ontology (GO) cellular component terms (GO ID links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0005783 endoplasmic reticulum IDA16780588
GO:0005886 plasma membrane IDA16780588
GO:0005887 integral to plasma membrane TAS8910544
About this table

IFNGR2 for ontologies           About GeneDecksing



Antibodies for IFNGR2: 
Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
Sigma-Aldrich Antibodies for IFNGR2
R&D Systems Antibodies for IFNGR2 (IFN-gamma R2)
Browse OriGene Antibodies
GenScript Custom Superior Antibodies Services for IFNGR2 
Novus Biologicals Antibodies for IFNGR2
Browse antibodies at Epitomics

Assays for IFNGR2: 
Browse Kits and Assays available from Millipore
Browse ELISAs at Sigma-Aldrich
OriGene Custom Immunoassay Development 
Browse OriGene Fluorogenic Cell Assay Kits 
Browse R&D Systems for biochemical assays
GenScript Custom Assay Services for IFNGR2 
Browse Enzo Life Sciences for kits & assays
Browse ELISAs and CLIAs at Uscn 

Protein Domains/
Families
for IFNGR2 gene

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section
IFNGR2 for domains           About GeneDecksing

5 InterPro domains/families:
 IPR008957 Fibronectin_III_dom
 IPR003961 FN_III
 IPR015373 Interferon_alpha/beta_rcpt_bsu
 IPR013783 Ig-like_fold
 IPR001187 Tissue_factor

Graphical View of Domain Structure for InterPro Entry P38484

ProtoNet protein and cluster: P38484

UniProtKB/Swiss-Prot: INGR2_HUMAN, P38484
Similarity: Belongs to the type II cytokine receptor family
Similarity: Contains 2 fibronectin type-III domains


Gene Function
for IFNGR2 gene

(According to UniProtKB, IUBMB,and/or Genatlas, Animal models from MGI Dec 24 2010,
shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich, microRNA from Sigma-Aldrich, Qiagen, SABiosciences, Clones from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, Cell Lines from GenScript, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene.)
About This Section

UniProtKB/Swiss-Prot: INGR2_HUMAN, P38484
Function: Part of the receptor for interferon gamma. Required for signal transduction. This accessory factor is an
integral part of the IFN-gamma signal transduction pathway and is likely to interact with GAF, JAK1, and/or JAK2

Inhib.
RNA:    		Browse for Gene Knock-down Tools from Millipore
Browse Nano Scale siRNA at Sigma-Aldrich
Sigma-Aldrich siRNA Panels and esiRNA and siRNA for IFNGR2
Sigma-Aldrich shRNA Panels and shRNA for IFNGR2
OriGene 29mer shRNA kits in GFP-retroviral vector: IFNGR2
OriGene shRNA RFP: IFNGR2
OriGene basic RS shRNA: IFNGR2
OriGene siRNA: IFNGR2
QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of IFNGR2 
miRNA:Sigma-Aldrich microRNA Mimics for IFNGR2
Browse microRNA target validation systems at Sigma-Aldrich 
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of IFNGR2 
Search SABiosciences for Assays for microRNAs that regulate IFNGR2

Gene
Editing:		Browse CompoZr Knockout ZFN at Sigma-Aldrich 

Clones:Browse Clones for the Expression of Recombinant Proteins Available from Millipore
Browse iPSC Reprogramming Factors at Sigma-Aldrich
OriGene GFP tagged cDNA clones in CMV expression vector: IFNGR2
OriGene Myc/DDK tagged cDNA clones in CMV expression vector: IFNGR2
OriGene untagged cDNA clones in CMV expression vector: IFNGR2
OriGene 3'-UTR clone: IFNGR2 
Browse MicroRNA Expression Plasmids 
GenScript Custom cDNA clone Services for IFNGR2 
Browse Sino Biological Human cDNA Clones

Cell
Lines:  		GenScript Custom overexpressing Cell Line Services for IFNGR2 

Genatlas biochemistry entry for IFNGR2:
interferon gamma receptor 2,56kDa,accessory factor

3 Gene Ontology (GO) molecular function terms (GO ID links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0004872 receptor activity IEA--
GO:0004906 interferon-gamma receptor activity TAS9616207
GO:0005515 protein binding IEA--
About this table

IFNGR2 for ontologies           About GeneDecksing

Animal Models: 3 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Ifngr2):

hematopoietic systemhomeostasis/metabolismimmune system

IFNGR2 for phenotypes           About GeneDecksing


Pathways & Interactions
for IFNGR2 gene

(Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB, Sets of similar genes according to GeneDecks, PCR Arrays from SABiosciences, Proteins Network according to SABiosciences, Sigma-Aldrich, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene).
About This Section


IFNGR2 for pathways           About GeneDecksing

1 Millipore Pathway for IFNGR2
    Immune response IFN gamma signaling pathway

5/6 Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Pathways for  IFNGR2 (see all 6)
    Interferon Signaling
Type I Diabetes Mellitus Signaling
Hepatic Fibrosis / Hepatic Stellate Cell Activation
T Helper Cell Differentiation
HMGB1 Signaling

5/6 Kegg Pathways  (Kegg details for IFNGR2) (see all 6):
    hsa04060 Cytokine-cytokine receptor interaction
hsa04630 Jak-STAT signaling pathway
hsa04650 Natural killer cell mediated cytotoxicity
hsa05140 Leishmaniasis
hsa05142 Chagas disease

    SABiosciences Pathway-Focused PCR Arrays including IFNGR2 (see all 4): PAHS-052A PAHS-053A  

    Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Molecular Interaction Network for IFNGR2
    SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for IFNGR2

5/33 Interacting proteins for IFNGR2 (ENSP000003714253) via UniProtKB, MINT, and/or STRING (see all 33)
InteractantInteraction Details
GeneCardExternal ID(s)
JAK2ENSP000003710673STRING: ENSP00000371067
CBLENSP000002640333STRING: ENSP00000264033
CBLBENSP000002641223STRING: ENSP00000264122
CBLCENSP000002702793STRING: ENSP00000270279
FASENSP000003609423STRING: ENSP00000360942
About this table

3 Gene Ontology (GO) biological process terms (GO ID links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0007166 cell surface receptor linked signaling pathway TAS9616207
GO:0007596 blood coagulation IEA--
GO:0009615 response to virus TAS8124716
About this table

IFNGR2 for ontologies           About GeneDecksing



Drugs & Compounds
for IFNGR2 gene

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

IFNGR2 for compounds           About GeneDecksing

Browse Small Molecules at Sigma-Aldrich
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for IFNGR2
7 Novoseek chemical compound relationships for IFNGR2 gene
Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
4-hydroxytamoxifen 68.5 2 7721882 (1), 12738788 (1)
estrogen 62.4 25 7721882 (3), 11075817 (2), 15078875 (2), 11139588 (1) (see all 16)
tamoxifen 45.5 9 12738788 (2), 20332105 (2), 15060164 (1), 11553641 (1)
retinoic acid 35.6 3 11741282 (1), 7559520 (1), 10866321 (1)
steroid 33.6 6 16771709 (1), 8816752 (1), 20332105 (1), 19811234 (1)
estradiol 27.1 6 20332105 (2), 7721882 (1), 10908317 (1), 8816752 (1)
testosterone 11.9 5 12039962 (1), 12943705 (1), 17342748 (1), 15215582 (1) (see all 5)
About this table



Transcripts
for IFNGR2 gene

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 228 Homo sapiens; Dec 8 2010) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Millipore,
siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene, microRNA from Sigma-Aldrich, Qiagen, SABiosciences,
Tagged/untagged cDNA clones from OriGene, Sigma-Aldrich, GenScript, Primers from OriGene and/or SABiosciences)
About This Section
Inhib.
RNA:     		Browse for Gene Knock-down Tools from Millipore
Browse Nano Scale siRNA at Sigma-Aldrich
Sigma-Aldrich siRNA Panels and esiRNA and siRNA for IFNGR2
Sigma-Aldrich shRNA Panels and shRNA for IFNGR2
OriGene 29mer shRNA kits in GFP-retroviral vector: IFNGR2
OriGene shRNA RFP: IFNGR2
OriGene basic RS shRNA: IFNGR2
OriGene siRNA: IFNGR2
QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of IFNGR2 
miRNA: Sigma-Aldrich microRNA Mimics for IFNGR2
Browse microRNA target validation systems at Sigma-Aldrich 
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of IFNGR2 
Search SABiosciences for Assays for microRNAs that regulate IFNGR2
Clones: Browse FLAG tag genes at Sigma-Aldrich
OriGene GFP tagged cDNA clones in CMV expression vector: IFNGR2
OriGene Myc/DDK tagged cDNA clones in CMV expression vector: IFNGR2
OriGene untagged cDNA clones in CMV expression vector: IFNGR2
OriGene 3'-UTR Clone: IFNGR2 
Browse OriGene MicroRNA Expression Plasmids 
GenScript Custom cDNA clone Services for IFNGR2 
Primers: OriGene genome-wide validated SYBR primer pairs: IFNGR2
Browse OriGene validated miRNA SYBR primer pairs 
SABiosciences RT2 qPCR Primer Assay for IFNGR2: PPH00872A

REFSEQ mRNAs for IFNGR2 gene: 

NM_005534.3  

Additional cDNA sequence: 

AK292246.1 AK314005.1 BC003624.2 CR592484.1 CR592823.1 CR596056.1 CR598065.1 CR600779.1 
CR602883.1 CR607346.1 CR607841.1 CR614391.1 CR617048.1 CR617094.1 CR617691.1 CR618682.1 
CR621659.1 CR624031.1 DQ655977.2 EF173886.1 U05875.1 U05877.1 

18 DOTS entries:

DT.453988  DT.100818065  DT.100803533  DT.100818058  DT.121131357  DT.121131351  DT.100818051  DT.95169080 
DT.95169097  DT.121131352  DT.75158328  DT.100709397  DT.100818060  DT.100837977  DT.121131362  DT.91856358 
DT.415722  DT.75146865 

24/482 AceView cDNA sequences (see all 482):

BQ574525 W25459 CD105546 T89516 BG235915 BI022317 BG749534 BM782324 
Z39908 CR607346 CR624031 CR617691 CR598065 BQ441194 Z43842 AW877047 
U05877 BF002968 BU520968 CA414778 BX400204 BM924333 AI141470 BG337567 

highest scoring ESTs for IFNGR2:

AI985833 U05875 AA037665 AA039282 AA058408 AA082836 AA128344 AA173035 AA176715 AA203691 

Unigene Cluster for IFNGR2:

Interferon gamma receptor 2 (interferon gamma transducer 1)
Hs.634632  [show with all ESTs]
Unigene Representative Sequence: NM_005534


GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for IFNGR2

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8
SP1:                    -                                       
SP2:                                                            
SP3:                    -     -     -                           
SP4:        -           -                                       

About this scheme

ECgene alternative splicing isoforms for IFNGR2
7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000439213 ENST00000472188 ENST00000457700 ENST00000381995 ENST00000290219(uc002yrp.3 uc002yrq.3 uc010gma.2 uc002yrr.3)
ENST00000405436 ENST00000421802

Expression
for IFNGR2 gene

(Experimental results according to 1GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 228 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Primers from OriGene and/or SABiosciences )
About This Section

IFNGR2 expression in normal and diseased human tissues

1  / 2  / 3

4 probe-sets matching IFNGR2 gene

Affymetrix
probe-set		 Array  GeneAnnot data GeneNote data GeneTide data
# genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
41140_at2, 3 U95-A 1 1.00 1.00 0.95 0.81 U05875 1.00 1.00 1.00 1
75317_s_at2, 3 U95-D 1 1.00 1.00 0.92 1.19 AI985833 1.00 1.00 1.00 1
201642_at2, 3 U133-A 1 1.00 1.00 -- -- NM_005534 0.60 1.00 0.82 1
201642_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
About this table

IFNGR2 for expression           About GeneDecksing

Data from Genenote  (Publications) and GNF BioGPS
    About these images
IFNGR2 gene expression
IFNGR2 gene electronic northern expression
IFNGR2 gene sage expression
About these images

CGAP SAGE TAG: GTGTGCTGGC

SOURCE GeneReport for Unigene cluster: Hs.634632

Expression variation in blood from EXPOLDB for IFNGR2

Primers: OriGene genome-wide validated SYBR primer pairs: IFNGR2
Browse OriGene validated miRNA SYBR primer pairs 
SABiosciences RT2 qPCR Primer Assay for IFNGR2: PPH00872A
    SABiosciences Expression via Pathway-Focused PCR Arrays including IFNGR2 (see all 4): PAHS-052A PAHS-053A  


Orthologs
for IFNGR2 gene

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Dec 24 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section
Orthologs for IFNGR2 gene from 5/6 species (see all 6)
Organism Gene Locus Description Human
Similarity		 NCBI accessions
dog
(Canis familiaris)		 IFNGR21   -- interferon gamma receptor 2 (interferon gamma transducer more 78.48(n)
72.78(a)		 487739  XM_544863.2  XP_544863.2 
chimpanzee
(Pan troglodytes)		 IFNGR21   -- interferon gamma receptor 2 (interferon gamma transducer more 99.31(n)
98.81(a)		 470077  XM_525461.2  XP_525461.2 
cow
(Bos taurus)		 IFNGR21   -- interferon gamma receptor 2 (interferon gamma transducer more 75.03(n)
65.44(a)		 514889  XM_592804.3  XP_592804.3 
rat
(Rattus norvegicus)		 Ifngr21   -- interferon gamma receptor 2 70.13(n)
61.77(a)		 360697  XM_340967.3  XP_340968.1 
mouse
(Mus musculus)		 Ifngr21 , 5 16 (53.07 cM)5
 interferon gamma receptor 21, 5 68.9(n)1
60.67(a)1		 159801  NM_008338.31  NP_032364.11 
 AA4127945  AI3236545  (see all 23)
About this table        Species with no ortholog for IFNGR2

ENSEMBL Gene Tree for IFNGR2 (if available)

Paralogs
for IFNGR2 gene

(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section
Paralogs for IFNGR2 gene
IFNAR12  ENSG000002496242  IL10RB2  

IFNGR2 for paralogs           About GeneDecksing



Genomic Variants
for IFNGR2 gene

(SNPs according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
About This Section

10/405 NCBI SNPs in IFNGR2 are shown (see all 405)
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidChr 21 posSequenceRecsAA
Chg		TypeMoreRecsAllele
freq		PopTotal
sample		More
----------
rs15321,2
C,F,A,H,34804966(+) ACTGAC/TGTTTG 1 -- int113Minor allele frequency- T:0.19MN NS EA NA WA 826
rs126551,2
C,F34809686(+) AGCGAG/AGGACA 1 -- ut317Minor allele frequency- A:0.01MN NS 484
rs7433331,2
C,F,A,34794217(-) caagtG/Agtggg 1 -- int17Minor allele frequency- A:0.01MN NS EA 694
rs10592931,2
C,F,A,H,34809693(+) GACACT/CGAGTG 1 -- ut3118Minor allele frequency- C:0.35MN NS EA NA WA 1298
rs10645791,2
H34805057(+) CTCCGT/GGGGAA 2 /G /V mis1 ref15Minor allele frequency- G:0.00NS EA NA 416
rs18025851,2
--34809200(+) GATGAC/AGTCTG 2 /E /D mis1 ref11Minor allele frequency- A:0.00NA 12
rs18025861,2
--34809377(+) TGCCTC/TTAAAA 1 -- ut310--------
rs20120751,2
C,F,O,A,H,34796762(+) CTGGGT/CTGCTG 1 -- int118Minor allele frequency- C:0.24MN NS EA NA WA 1122
rs20121191,2
--34797246(+) agtttC/Tactct 1 -- int10--------
rs20401201,2
C,F,A,H,34809049(+) aaaaaA/TaaaaT 1 -- int16Minor allele frequency- T:0.35NS NA EA WA 252
About this table

HapMap Linkage Disequilibrium images for IFNGR2 (up to first 250kb)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
      Database of Genomic Variants (DGV) variations for IFNGR2: --

QIAGEN SeqTarget long-range PCR primers for resequencing IFNGR2 

Disorders & Mutations
for IFNGR2 gene

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, and/or TGDB.)
About This Section
IFNGR2 for disorders           About GeneDecksing

OMIM: 147569   disorders: 209950  

UniProtKB/Swiss-Prot: INGR2_HUMAN, P38484

  • Defects in IFNGR2 are a cause of mendelian susceptibility to mycobacterial disease (MSMD) [MIM:209950]; also
    • known as familial disseminated atypical mycobacterial infection. This rare condition confers predisposition to illness
    caused by moderately virulent mycobacterial species, such as Bacillus Calmette-Guerin (BCG) vaccine and environmental
    non-tuberculous mycobacteria, and by the more virulent Mycobacterium tuberculosis. Other microorganisms rarely cause
    severe clinical disease in individuals with susceptibility to mycobacterial infections, with the exception of
    Salmonella which infects less than 50% of these individuals. The pathogenic mechanism underlying MSMD is the
    impairment of interferon-gamma mediated immunity, whose severity determines the clinical outcome. Some patients die of
    overwhelming mycobacterial disease with lepromatous-like lesions in early childhood, whereas others develop, later in
    life, disseminated but curable infections with tuberculoid granulomas. MSMD is a genetically heterogeneous disease
    with autosomal recessive, autosomal dominant or X-linked inheritance

    8 Novoseek disease relationships for IFNGR2 gene

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    mycobacterial infection 57.6 1 16951322 (1)
    sezary syndrome 46.9 2 9613981 (1), 8695857 (1)
    asthma allergic 32.3 4 11240951 (2), 19247692 (1), 10491309 (1)
    breast cancer 27.3 2 12738788 (1)
    sarcoidosis 20.9 3 15004750 (1), 17937105 (1)
    tuberculosis 0.401 1 15004750 (1)
    asthma 0 1 19247692 (1)
    tumors 0 4 12738788 (1), 9792714 (1), 11553641 (1)
    About this table

    1 PharmGKB disease relationship for IFNGR2 gene
    Disease PharmGKB Relations PubMed IDs for articles supporting these relationships
    Leukemia, Lymphocytic, Acute, L1FA  GN  12730115
    About this table

    Locus Specific Mutation Databases (LSDB): IFNGR2
    Human Gene Mutation Database (HGMD): IFNGR2
    Genetic Association Database (GAD): IFNGR2
    Human Genome Epidemiology (HuGE) Navigator: IFNGR2 (37 documents)

    Export disorders and mutations for IFNGR2 gene to outside databases

    Medical News
    for IFNGR2 gene

    (Possibly Related Articles in Doctor's Guide)
    About This Section
    		   --

    Publications
    for IFNGR2 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6UniProtKB/TrEMBL, and/or 7Novoseek)
    About This Section

    10/162 PubMed articles for IFNGR2 gene, integrated from 7 sources (see all 162):
    (articles sorted by number of sources associating them with IFNGR2)
    1. Polymorphisms in the genes encoding interferon-gamma and interferon-gamma receptors in multiple sclerosis. (PubMed id 15182327)1, 4, 7 Schrijver H.M....Uitdehaag B.M. (2004)
    2. Association of IFN-gamma and IFN regulatory factor 1 polymorphisms with childhood atopic asthma. (PubMed id 11240951)1, 4, 7 Nakao F....Hara T. (2001)
    3. Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations. (PubMed id 15924140)1, 2, 7 Vogt G.... Casanova J.-L. (2005)
    4. Interferon-gamma and interferon-gamma receptor 1 and 2 gene polymorphisms and restenosis following coronary stenting. (PubMed id 16115485)1, 4, 7 Tiroch K....Kastrati A. (2005)
    5. Association between IFNA genotype and the risk of sarcoidosis. (PubMed id 15004750)1, 4, 7 Akahoshi M....Shirakawa T. (2004)
    6. [Polymorphisms within the interferon-Gamma receptor associated with systemic lupus erythematosus] (PubMed id 15952126)1, 4 Yao X....Chen Z.Q. (2005)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    8. Polymorphisms of transforming growth factor-beta1 and transforming growth factor-beta1 type II receptor genes are associated with acute graft-versus-host disease in children with HLA-matched sibling bone marrow transplantation. (PubMed id 12420205)1, 4 Hattori H....Hara T. (2002)
    9. Contribution of the interleukin 4 gene to susceptibility to subacute sclerosing panencephalitis. (PubMed id 12020266)1, 4 Inoue T....Hara T. (2002)
    10. The structure of the gene for the second chain of the human interferon gamma receptor. (PubMed id 8910544)1, 2 Rhee S.... Pestka S. (1996)

    External Searches for IFNGR2 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Genome Databases showing IFNGR2 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 3460 HGNC: 5440 AceView: IFNGR2 Ensembl:ENSG00000159128 euGenes: HUgn3460
    ECgene: IFNGR2 Kegg: 3460 H-InvDB: IFNGR2

    Other Databases showing IFNGR2 gene

    (According to HUGE)
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    		   --

    Specialized Databases showing IFNGR2 gene

    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    IFNGR2basehttp://bioinf.uta.fi/IFNGR2base/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/IFNGR2
    SeattleSNPshttp://pga.gs.washington.edu/data/ifngr2/

    Intellectual Property
    for IFNGR2 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from XenneX, Inc.)
    About This Section
    		Patent Information for IFNGR2 gene:
    Search GeneIP for patents involving IFNGR2

    GeneCards and IP:
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    Products
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