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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

IFNGR2 Gene

protein-coding   GIFtS: 60
GCID: GC21P034757

interferon gamma receptor 2 (interferon gamma transducer...


(Previous symbol: IFNGT1)
 Explore 60 diseases affiliated with
IFNGR2 via our new
 Human Malady Compendium 
Biological research products
for IFNGR2
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, and/or 11Nature:405,311-319 and CroW21)
About This Section

Aliases
Interferon Gamma Receptor 2 (Interferon Gamma Transducer 1)1 2     IFN-Gamma Receptor 22 3
IFNGT11 2 3 5     IFGR22 5
AF-11 2 3     Interferon-Gamma Receptor Beta Chain Precursor11
Interferon Gamma Receptor Accessory Factor 12 3     Interferon Gamma Receptor 22
Interferon Gamma Transducer 12 3     Interferon Gamma Receptor Accessory Factor-12
IFN-Gamma-R21     Interferon Gamma Receptor Beta Chain2

External Ids:    HGNC: 54401   Entrez Gene: 34602   Ensembl: ENSG000001591287   OMIM: 1475695   UniProtKB: P384843   

Export aliases for IFNGR2 gene to outside databases

Previous GC identifers: GC21P031352 GC21P031435 GC21P033695 GC21P033697 GC21P020243


(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 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, Jul 2008)

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




(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, Whole Chromsome Sequence According to Nature (Cited Here with Permission):405,311-319 and CroW21)
About This Section
RefSeq DNA sequence:
NC_000021.8  NC_018932.1  NT_011512.11  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the IFNGR2 gene promoter:
         Nkx3-1 v2   Nkx3-1 v4   C/EBPbeta   STAT1   AML1a   Nkx3-1 v3   STAT1beta   STAT1alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): IFNGR2 promoter sequence

   Search SABiosciences Chromatin IP Primers for IFNGR2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat 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 information about chromosome 21         GeneLoc Exon Structure

(about GC identifiers)
GC21P034757:   GeneLoc Nature:405,311-319
Start:
34,757,299 bp from pter       20,351,850 bp from centromere
End:
34,851,655 bp from pter 20,386,468 bp from centromere
Size:
94,357 bases 34,619 bases
Orientation:
plus strand plus strand

1 alternative location:
Chr21+,PATCHES 34,782,407-34,805,049     

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


(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: 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

IFNGR2 Protein expression data from MOPED and PaxDb:    About this image 

Estimated protein expression log10 (pmol).

REFSEQ proteins: NP_005525.2  
ENSEMBL proteins: 
 ENSP00000290219   ENSP00000407541   ENSP00000371425   ENSP00000442735   ENSP00000385044  
 ENSP00000402629  
Reactome Protein details: P38484
Human Recombinant Protein Products: 
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OriGene Protein Over-expression Lysate: IFNGR2
OriGene Custom Protein Services for IFNGR2 
GenScript Custom Purified and Recombinant Proteins Services for IFNGR2
Novus Biologicals IFNGR2 Proteins
Novus Biologicals IFNGR2 Lysates
Browse Sino Biological Recombinant Proteins
Browse ProSpec Recombinant Proteins
Browse Proteins at Uscn

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

GO IDQualified GO termEvidencePubMed IDs
GO:0005783endoplasmic reticulum IDA16780588
GO:0005886plasma membrane TAS--
GO:0005887integral to plasma membrane TAS8910544


IFNGR2 for ontologies           About GeneDecksing



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Browse ELISAs and CLIAs at Uscn


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

IFNGR2 for domains           About GeneDecksing

3 InterPro domains/families:
 IPR003961 Fibronectin_type3
 IPR015373 Interferon_alpha/beta_rcpt_bsu
 IPR013783 Ig-like_fold

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


(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: 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

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

miRNA
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1 QIAGEN miScript miRNA Assays for microRNA that regulate IFNGR2:
hsa-miR-4255
SwitchGear 3'UTR luciferase reporter plasmidIFNGR2 3' UTR sequence
Inhib. RNA
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OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for IFNGR2 (see all 7)
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OriGene siRNA: IFNGR2
QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat IFNGR2

Gene Editing
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Clone
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Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat IFNGR2 

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In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IFNGR2

Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0004872receptor activity ----
GO:0004906interferon-gamma receptor activity TAS9616207


IFNGR2 for ontologies           About GeneDecksing


1 GenomeRNAi human phenotype for IFNGR2:
 Decreased influenza A/WSN/33 r 

Animal Models:
     Mouse knock-out Ifngr2tm1Pbro for IFNGR2
     4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Ifngr2):
 cellular  hematopoietic system  homeostasis/metabolism  immune system 

IFNGR2 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 - 5/24 super-pathways (see all 24About this table 
See pathways by source

Super-pathwaycontained gene-specific pathways
1Immune response_IFN gamma signaling pathway
Immune response_IFN gamma signaling pathway1.00
Immune response IFN gamma signaling pathway1.00
2Cytokine Signaling in Immune system
Cytokine Signaling in Immune system1.00
Interferon Signaling0.61
3Measles
Measles1.00
Influenza A0.35
4Leishmaniasis
Leishmaniasis1.00
Toxoplasmosis0.31
5Immune response_Bacterial infections in normal airways
Immune response_Bacterial infections in normal airways1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for IFNGR2
    Immune response IFN gamma signaling pathway

1 R&D Systems Pathway for IFNGR2
    Th1 Differentiation

5/8 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for IFNGR2 (see all 8)
    THC Differentiation Pathway
HMGB1 Pathway
Interferon Pathway
JAK-STAT Pathway
Cellular Transformation by HTLV1

2 GeneGo (Thomson Reuters) Pathways for IFNGR2
    Immune response Bacterial infections in normal airways
Immune response IFN gamma signaling pathway

1 BioSystems Pathway for IFNGR2 
    Type II interferon signaling (IFNG)

5        Reactome Pathways for IFNGR2
    Interferon gamma signaling
Regulation of IFNG signaling
Cytokine Signaling in Immune system
Interferon Signaling
Immune System


5/10         Kegg Pathways  (Kegg details for IFNGR2) (see all 10):
    Cytokine-cytokine receptor interaction
Osteoclast differentiation
Jak-STAT signaling pathway
Natural killer cell mediated cytotoxicity
Leishmaniasis


IFNGR2 for pathways           About GeneDecksing

Interactions:

    SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for IFNGR2

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

5/42 Interacting proteins for IFNGR2 (P384843 ENSP000002902194) via UniProtKB, MINT, STRING, and/or I2D (see all 42)
InteractantInteraction Details
GeneCardExternal ID(s)
IFNGP015793, ENSP000002291354I2D: score=4 STRING: ENSP00000229135
DNAJA3Q96EY13, ENSP000002623754I2D: score=2 STRING: ENSP00000262375
NR3C1P041503, ENSP000002315094I2D: score=2 STRING: ENSP00000231509
JAK2O606743, ENSP000003710674I2D: score=3 STRING: ENSP00000371067
ANXA5P087583, ENSP000002965114I2D: score=3 STRING: ENSP00000296511
About this table

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

GO IDQualified GO termEvidencePubMed IDs
GO:0007166cell surface receptor signaling pathway TAS9616207
GO:0009615response to virus TAS8124716
GO:0019221cytokine-mediated signaling pathway TAS--
GO:0060333interferon-gamma-mediated signaling pathway TAS--
GO:0060334regulation of interferon-gamma-mediated signaling pathway TAS--


IFNGR2 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

IFNGR2 for compounds           About GeneDecksing

Browse Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for IFNGR2

1 DrugBank Compound for IFNGR2    About this table
CompoundSynonyms CAS #TypeActionsPubMed Ids
Interferon gamma-1bIFN-gamma (see all 3)82115-62-6targetbinder17618444 11752352 17239631

7 Novoseek chemical compound relationships for IFNGR2 gene    About this table
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)

Search CenterWatch for drugs/clinical trials and news about IFNGR2 / INGR2 

(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 IFNGR2 gene: 
NM_005534.3  

Unigene Cluster for IFNGR2:

Interferon gamma receptor 2 (interferon gamma transducer 1)
Hs.634632  [show with all ESTs]
Unigene Representative Sequence: NM_005534
7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000472188 ENST00000290219(uc002yrp.4) ENST00000439213 ENST00000381995
ENST00000545369 ENST00000405436 ENST00000421802

miRNA
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1 QIAGEN miScript miRNA Assays for microRNA that regulate IFNGR2:
hsa-miR-4255
SwitchGear 3'UTR luciferase reporter plasmidIFNGR2 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 IFNGR2
Clone
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GenScript: all cDNA clones in your preferred vector: IFNGR2 (NM_005534)
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  QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat IFNGR2
  QIAGEN QuantiFast Probe-based Assays in human, mouse, rat IFNGR2

Additional cDNA sequence: 

AK292246.1 AK314005.1 BC003624.2 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):

CR598065 BX447234 AW877047 CR617048 BX281997 CR614391 CR602883 U05877 
BI022317 BI761719 BQ881686 AI733305 CA414778 CR618682 CR592484 AI342299 
BG749534 AL553462 CR617691 BM924333 AI793330 T89516 CB155994 CR617094 

GeneLoc Exon Structure

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

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


ECgene alternative splicing isoforms for IFNGR2

(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

IFNGR2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GTGTGCTGGC

Microarray
RNAseq (Illumina Body Map)
(100×FPKM)½
SAGE (Serial Analysis of Gene Expression)

About this image

IFNGR2 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
3 LifeMap In Vivo Development Anatomical Compartments/Cells 
Tissue Anatomical Compartment CellCategory (developmental path)
BrainCerebral CortexBrain
BrainMedulla OblongataBrain
Neural TubeMetencephalonNeural Tube
Expression: Positive    Negative     Selective marker
Experimental details: Curated     Microarrays     In-situ hybridization

See IFNGR2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for IFNGR2

SOURCE GeneReport for Unigene cluster: Hs.634632
    SABiosciences Expression via Pathway-Focused PCR Arrays including IFNGR2: 
          Interferons & Receptors in human mouse rat
          Inflammatory Response & Autoimmunity 384HT in human mouse rat
          Allergy & Asthma in human mouse rat

Primer
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QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat IFNGR2
QIAGEN QuantiFast Probe-based Assays in human, mouse, rat IFNGR2
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IFNGR2

(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 chordates.

Orthologs for IFNGR2 gene from 4/10 species (see all 10)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Ifngr21 , 5 interferon gamma receptor 21, 5 68.9(n)1
60.67(a)1
  16 (53.07 cM)5
159801  NM_008338.31  NP_032364.11 
 915470725 
chicken
(Gallus gallus)
Aves IFNGR21 interferon gamma receptor 2 (interferon gamma transducer more 47.87(n)
35.64(a)
  418502  NM_001008676.2  NP_001008676.1 
lizard
(Anolis carolinensis)
Reptilia IFNGR26
--
29(a)
1 ↔ 1
3(143172671-143181968)
zebrafish
(Danio rerio)
Actinopterygii CU929209.16
crfb46
(see all 3)
cytokine receptor family member b4
(see all 3)
19(a)
18(a)
(see all 3)
many ↔ many
many ↔ many
(see all 3)
1(9987516-9991549)
9(16524497-16651219)


ENSEMBL Gene Tree for IFNGR2 (if available)
TreeFam Gene Tree for IFNGR2 (if available) 

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
Paralogs for IFNGR2 gene
IFNAR12  ENSG000002496242  IL10RB2  

IFNGR2 for paralogs           About GeneDecksing



(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

10/530 NCBI SNPs in IFNGR2 are shown (see all 530    About this table
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 21 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs49869581,2
C,F,H,non-pathogenic34787294(+) TAGCAC/GGAGGC 2 T R mis136Minor allele frequency- G:0.06MN NA NS EA WA EU 8883
rs1219131931,2
C,untested34783522(+) TGAAAC/TGGAAA 1 -- int10--------
rs1219131991,2
C,untested34793707(+) CCTGCA/GTTTTG 1 -- int10--------
rs1219132071,2
C,untested34799166(+) TGTGGC/TTTTCT 1 -- int10--------
rs1219132081,2
C,F,untested34799244(+) CCCTCA/CTCATC 2 I L mis12Minor allele frequency- C:0.00NA EU 5823
rs1219132101,2
C,untested34799306(+) TATTAC/TGTCCA 2 Y syn10--------
rs72820031,2
C,F,H,--34773395(+) CCAGAC/TGCTAA 1 -- us2k1 tfbs35Minor allele frequency- T:0.01NS EA WA 534
rs178848021,2
C,--34773409(+) TGAGAC/TAGACA 1 -- us2k1 tfbs33Minor allele frequency- T:0.01NS WA 200
rs178800531,2
C,F,--34773497(+) ATGAT-/GGCCAG 1 -- us2k13Minor allele frequency- G:0.24NS CSA 84
rs1392081691,2
--34773547(+) CGGAAC/GAAGAC 1 -- us2k10--------

HapMap Linkage Disequilibrium report for IFNGR2 (34757299 - 34851655 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
      Database of Genomic Variants (DGV) variations for IFNGR2: --
Human Gene Mutation Database (HGMD): IFNGR2

Locus Specific Mutation Databases (LSDB): IFNGR2

SABiosciences Cancer Mutation PCR Assays
QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing IFNGR2
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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

IFNGR2 for disorders           About GeneDecksing

OMIM gene information: 147569   
OMIM 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

    20/60 diseases for IFNGR2 (see all 60):    About MalaCards
    mycobacterial infection    diffuse large b-cell lymphoma    subacute sclerosing panencephalitis    graft versus host disease
    b-cell lymphomas    dengue hemorrhagic fever    lepromatous leprosy    testicular germ cell tumor
    non-hodgkin lymphoma    hemorrhagic fever    germ cell tumor    estrogen resistance
    systemic lupus erythematosus    lupus erythematosus    hodgkin's lymphoma    sarcoidosis
    chronic myeloid leukemia    pulmonary sarcoidosis    leprosy    myeloid leukemia

    8 Novoseek disease relationships for IFNGR2 gene    About this table

    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)

    Genetic Association Database (GAD): IFNGR2
    Human Genome Epidemiology (HuGE) Navigator: IFNGR2 (44 documents)

    Export disorders for IFNGR2 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 IFNGR2 gene, integrated from 9 sources (see all 168):
    (articles sorted by number of sources associating them with IFNGR2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Polymorphisms in the genes encoding interferon-gamma and interferon-gamma receptors in multiple sclerosis. (PubMed id 15182327)1, 4, 9 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, 9 Nakao F....Hara T. (2001)
    3. The interferon-gamma receptor gene polymorphisms (Val14Met and Gln64Arg) are not associated with systemic lupus erythematosus in Chinese patients. (PubMed id 17618444)1, 7, 9 Yao X....Liu J. (2007)
    4. Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations. (PubMed id 15924140)1, 2, 9 Vogt G.... Casanova J.-L. (2005)
    5. Interferon-gamma and interferon-gamma receptor 1 and 2 gene polymorphisms and restenosis following coronary stenting. (PubMed id 16115485)1, 4, 9 Tiroch K....Kastrati A. (2005)
    6. Association between IFNA genotype and the risk of sarcoidosis. (PubMed id 15004750)1, 4, 9 Akahoshi M....Shirakawa T. (2004)
    7. [Polymorphisms within the interferon-Gamma receptor associated with systemic lupus erythematosus] (PubMed id 15952126)1, 4 Yao X....Chen Z.Q. (2005)
    8. 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)
    9. 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)
    10. Contribution of the interleukin 4 gene to susceptibility to subacute sclerosing panencephalitis. (PubMed id 12020266)1, 4 Inoue T....Hara T. (2002)

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

    (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
    NameDescription
    PharmGKB entry for IFNGR2 Pharmacogenomics, SNPs, Pathways
    IFNGR2basehttp://bioinf.uta.fi/IFNGR2base/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/IFNGR2
    SeattleSNPshttp://pga.gs.washington.edu/data/ifngr2/

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

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



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