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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

IFNGR1 Gene

protein-coding GIFtS: 69
GCID: GC06M137518

interferon gamma receptor 1

(Previous symbol: IFNGR)

Explore 79 diseases affiliated with
IFNGR1 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 Receptor 1¹ ²		IFN-Gamma Receptor 1² ³
CD119¹ ²		Antiviral Protein, Type 2²
IFNGR¹ ²		AVP, Type 2²
CDw119² ³		Immune Interferon Receptor 1²
IFN-Gamma-R1¹		Interferon-Gamma Receptor Alpha Chain²
CD119 Antigen² ³

External Ids:	HGNC: 5439¹	Entrez Gene: 3459²	Ensembl: ENSG00000027697⁷	OMIM: 107470⁵	UniProtKB: P15260³

Export aliases for IFNGR1 gene to outside databases

Previous GC identifers: GC06M137141 GC06M137365 GC06M137499 GC06M137560 GC06M135080

(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 IFNGR1:

This gene (IFNGR1) encodes the ligand-binding chain (alpha) of the gamma interferon receptor. Human interferon-gamma

receptor is a heterodimer of IFNGR1 and IFNGR2. A genetic variation in IFNGR1 is associated with susceptibility to

Helicobacter pylori infection. In addition, defects in IFNGR1 are a cause of mendelian susceptibility to mycobacterial

disease, also known as familial disseminated atypical mycobacterial infection. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: INGR1_HUMAN, P15260

Function: Receptor for interferon gamma. Two receptors bind one interferon gamma dimer

Gene Wiki entry for IFNGR1 (Interferon gamma receptor 1)

(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_000006.11 NC_018917.1 NT_025741.15

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the IFNGR1 gene promoter:
STAT1 AML1a p53 FOXO4 STAT3 HNF-4alpha2 FOXL1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: IFNGR1 promoter sequence

Search SABiosciences Chromatin IP Primers for IFNGR1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat IFNGR1

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

Entrez Gene cytogenetic band: 6q23.3 Ensembl cytogenetic band: 6q23.3 HGNC cytogenetic band: 6q23-q24

IFNGR1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
IFNGR1 gene location

GeneLoc information about chromosome 6 GeneLoc Exon Structure

GeneLoc location for GC06M137518: view genomic region (about GC identifiers)

Start:	137,518,621 bp from pter	End:	137,540,586 bp from pter
Size:	21,966 bases	Orientation:	minus 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: INGR1_HUMAN, P15260 (See protein sequence)

Recommended Name: Interferon gamma receptor 1 precursor

Size: 489 amino acids; 54405 Da

Subunit: Monomer

Subcellular location: Membrane; Single-pass type I membrane protein

3 PDB 3D structures from and Proteopedia for IFNGR1:

1FG9 (3D)

1FYH (3D)

1JRH (3D)

Secondary accessions: E1P587 Q53Y96

Explore the universe of human proteins at neXtProt for IFNGR1: NX_P15260

Post-translational modifications:

Phosphorylated at Ser/Thr residues¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P15260

IFNGR1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_000407.1

ENSEMBL proteins:

ENSP00000356713 ENSP00000389249 ENSP00000394230 ENSP00000443282 ENSP00000356709

Reactome Protein details: P15260
Human Recombinant Protein Products for IFNGR1:

	Browse Purified and Recombinant Proteins at EMD Millipore
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	Novus Biologicals IFNGR1 Proteins Novus Biologicals IFNGR1 Lysates
	Sino Biological Recombinant Protein for IFNGR1
	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 ID	Qualified GO term	Evidence	PubMed IDs
GO:0005886	plasma membrane	TAS	--
GO:0005887	integral to plasma membrane	TAS	2971451
GO:0016020	membrane	--	--

IFNGR1 for ontologies About GeneDecksing

IFNGR1 Antibody Products:

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Assay Products for IFNGR1:

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	Browse Enzo Life Sciences for kits & assays
	Browse ELISAs and CLIAs at Uscn

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

IFNGR1 for domains About GeneDecksing

4 InterPro domains/families:

IPR003961 Fibronectin_type3

IPR013783 Ig-like_fold

IPR008355 Interferon_gamma_rcpt_asu

IPR021126 Interferon_gamma_pox/mammal

Graphical View of Domain Structure for InterPro Entry P15260

ProtoNet protein and cluster: P15260

1 Blocks protein family: IPB008355 Interferon-gamma receptor alpha chain signature

UniProtKB/Swiss-Prot: INGR1_HUMAN, P15260

Similarity: Belongs to the type II cytokine receptor family

Similarity: Contains 2 fibronectin type-III domains

Similarity: Contains 2 Ig-like C2-type (immunoglobulin-like) domains

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

Molecular Function:

UniProtKB/Swiss-Prot Summary: INGR1_HUMAN, P15260

Function: Receptor for interferon gamma. Two receptors bind one interferon gamma dimer

Genatlas biochemistry entry for IFNGR1:

interferon gamma,receptor 1 (binding subunit),96kDa,ubiquitously expressed,secreted by natural killer (NK) and T

lymphocytes,with a small deletion hotspot

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004872	receptor activity	--	--
GO:0004906	interferon-gamma receptor activity	TAS	2971451
GO:0019955	cytokine binding	IEA	--

IFNGR1 for ontologies About GeneDecksing

Phenotypes:
15/17 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Ifngr1) (see all 17):

behavior/neurological	cardiovascular system	cellular	digestive/alimentary	embryogenesis
endocrine/exocrine gland	hematopoietic system	homeostasis/metabolism	immune system	integument
liver/biliary system	mortality/aging	nervous system	renal/urinary system	reproductive system

IFNGR1 for phenotypes About GeneDecksing

Animal Models:
Mouse knock-out Ifngr1^tm1Agt for IFNGR1

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for IFNGR1

miRNA Products:		miRTarBase miRNAs that target IFNGR1: hsa-mir-155 (MIRT005032)

		OriGene 3'-UTR Clone: IFNGR1 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat IFNGR1
		1 QIAGEN miScript miRNA Assays for microRNA that regulate IFNGR1:
		hsa-miR-548c-3p
		SwitchGear 3'UTR luciferase reporter plasmid: IFNGR1 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 IFNGR1 (see all 7) OriGene shRNA RFP: IFNGR1 OriGene siRNA: IFNGR1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat IFNGR1
		Sirion Biotech Custom design and validation of potent shRNA sequences against IFNGR1

Gene Editing Products:			DNA2.0 Custom Protein Engineering Service for IFNGR1
			Sirion Biotech Customized adenovirus for overexpression of IFNGR1 Sirion Biotech Customized adenovirus for potent knockdown of IFNGR1

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for IFNGR1 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for IFNGR1 (see all 2) OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: IFNGR1 (NM_000416)
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		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat IFNGR1

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for IFNGR1
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		Sirion Biotech Customized stable knockdown cell line services for IFNGR1 Sirion Biotech Customized inducible knockdown cell line services for IFNGR1 Sirion Biotech Customized stable overexpressing cell line services for IFNGR1 Sirion Biotech Customized inducible overexpressing cell line services for IFNGR1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IFNGR1

(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 - 5/25 super-pathways (see all 25) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Immune response_IFN gamma signaling pathway

	Immune response_IFN gamma signaling pathway	1.00			IFN-gamma pathway	0.43
	Immune response IFN gamma signaling pathway	1.00

Cytokine Signaling in Immune system

Cytokine Signaling in Immune system

1.00

Interferon Signaling

0.61

Measles

Measles

1.00

Influenza A

0.35

Leishmaniasis

Leishmaniasis

1.00

Toxoplasmosis

0.31

RIP-mediated NFkB activation via DAI

Activation of NF-KappaB by PKR

0.33

Cellular Transformation by HTLV1

0.18

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for IFNGR1

Immune response IFN gamma signaling pathway

1 R&D Systems Pathway for IFNGR1

Th1 Differentiation

5/10 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for IFNGR1 (see all 10)

	THC Differentiation Pathway
	HMGB1 Pathway
	Interferon Pathway
	JAK-STAT Pathway
	Cellular Transformation by HTLV1

2 GeneGo (Thomson Reuters) Pathways for IFNGR1

	Immune response Bacterial infections in normal airways
	Immune response IFN gamma signaling pathway

2 BioSystems Pathways for IFNGR1

	Type II interferon signaling (IFNG)
	IFN-gamma pathway

5 Reactome Pathways for IFNGR1

	Interferon gamma signaling
	Regulation of IFNG signaling
	Cytokine Signaling in Immune system
	Interferon Signaling
	Immune System

5/10 Kegg Pathways (Kegg details for IFNGR1) (see all 10):

	Cytokine-cytokine receptor interaction
	Osteoclast differentiation
	Jak-STAT signaling pathway
	Natural killer cell mediated cytotoxicity
	Leishmaniasis

IFNGR1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for IFNGR1

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

5/57 Interacting proteins for IFNGR1 (P15260^{2, 3} ENSP00000356713⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 57)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
STAT1	P42224²^,³, ENSP00000354394⁴	MINT-8025959 MINT-8026004 MINT-8025989 MINT-8025974 MINT-8025914 MINT-8025899 I2D: score=5 STRING: ENSP00000354394
IFNG	P01579³, ENSP00000229135⁴	I2D: score=5 STRING: ENSP00000229135
IFNGR2	P38484³, ENSP00000290219⁴	I2D: score=3 STRING: ENSP00000290219
SOCS1	O15524³, ENSP00000329418⁴	I2D: score=3 STRING: ENSP00000329418
PTPN11	Q06124³, ENSP00000340944⁴	I2D: score=2 STRING: ENSP00000340944

About this table

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0007165	signal transduction	TAS	2971451
GO:0009615	response to virus	TAS	2954953
GO:0019221	cytokine-mediated signaling pathway	TAS	--
GO:0060333	interferon-gamma-mediated signaling pathway	TAS	--
GO:0060334	regulation of interferon-gamma-mediated signaling pathway	TAS	--

IFNGR1 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

IFNGR1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for IFNGR1

1 DrugBank Compound for IFNGR1 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Interferon gamma-1b	IFN-gamma (see all 3)	82115-62-6	target	binder	17251453 17618444 11752352

7 Novoseek chemical compound relationships for IFNGR1 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
indole	33.7	1	14988219 (1)
gp 130	23.5	1	11815625 (1)
phorbol	19.8	2	11477089 (1), 17339358 (1)
deferoxamine	10.4	1	16837131 (1)
oxygen	0	2	18787531 (1)
iron	0	2	18795672 (1), 15626737 (1)
tyrosine	0	4	11574475 (1), 9462485 (1), 16914098 (1)

Search CenterWatch for drugs/clinical trials and news about IFNGR1 / INGR1

(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, Sirion Biotech, 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 IFNGR1 gene:

NM_000416.2

Unigene Cluster for IFNGR1:

Interferon gamma receptor 1

Hs.520414 [show with all ESTs]

Unigene Representative Sequence: AK127636

6 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000367739(uc011edm.1 uc003qho.2) ENST00000458076 ENST00000414770

ENST00000478333 ENST00000543628 ENST00000367735(uc011edn.1)

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		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat IFNGR1
		1 QIAGEN miScript miRNA Assays for microRNA that regulate IFNGR1:
		hsa-miR-548c-3p
		SwitchGear 3'UTR luciferase reporter plasmid: IFNGR1 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 IFNGR1 (see all 7) OriGene shRNA RFP: IFNGR1 OriGene siRNA: IFNGR1
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		Sirion Biotech Custom design and validation of potent shRNA sequences against IFNGR1

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for IFNGR1 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for IFNGR1 (see all 2) OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: IFNGR1 (NM_000416)
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Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for IFNGR1 Browse OriGene validated miRNA SYBR primer pairs
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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat IFNGR1
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat IFNGR1

Additional cDNA sequence:

AF056979.1 AK127636.1 AK222803.1 AK294252.1 AK297052.1 AK312674.1 BC005333.1 BT006814.1

EF173879.1 EF535103.1 J03143.1

11 DOTS entries:

DT.87017394 DT.425439 DT.92437962 DT.95102101 DT.121369508 DT.100652243 DT.100726470 DT.121369520

DT.121369536 DT.87010958 DT.95299815

24/320 AceView cDNA sequences (see all 320):

CR594485 N55028 AW516256 BU147577 AA010885 AI510800 BI911121 BM979324

BU688021 W61251 AL708361 AA361448 AA236938 AL542978 AL710986 T39977

CR624388 BU678063 CB268536 BX355597 CR625186 AA985415 CB217494 CB306631

GeneLoc Exon Structure

5/9 Alternative Splicing Database (ASD) splice patterns (SP) for IFNGR1 (see all 9) About this scheme

ExUns:	1a	·	1b	·	1c	·	1d	^	2	^	3a	·	3b	^	4	^	5	^	6a	·	6b	^	7a	·	7b	^	8a	·	8b	·	8c	·	8d	^	9	^	10	^	11a	·	11b
SP1:									-		-		-		-		-				-												-
SP2:									-		-		-		-		-				-		-										-
SP3:											-		-				-				-
SP4:									-		-		-				-				-
SP5:									-		-		-		-						-

ECgene alternative splicing isoforms for IFNGR1

(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

IFNGR1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AAAGCGTAAA

About this image

IFNGR1 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Cartilage

Meckel's Cartilage

Cartilage

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See IFNGR1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for IFNGR1

SOURCE GeneReport for Unigene cluster: Hs.520414

SABiosciences Expression via Pathway-Focused PCR Arrays including IFNGR1:

Innate & Adaptive Immune Responses in human mouse rat

Interferons & Receptors in human mouse rat

JAK / STAT Signaling Pathway in human mouse rat

Inflammatory Response & Autoimmunity 384HT in human mouse rat

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for IFNGR1 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat IFNGR1
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat IFNGR1

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IFNGR1

(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 IFNGR1 gene from 3/9 species (see all 9) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Ifngr1^{1 , 5}	interferon gamma receptor 1^{1, 5}	68.1(n)¹ 53.55(a)¹		10 (8.49 cM)⁵ 15979¹ NM_010511.2¹ NP_034641.1¹ 19591949⁵
chicken (Gallus gallus)	Aves	IFNGR1¹	interferon gamma receptor 1	50.32(n) 35.27(a)		421685 NM_001130387.1 NP_001123859.1
lizard (Anolis carolinensis)	Reptilia	IFNGR1⁶	--	29(a)	1 ↔ 1	GL343200.1(1938640-1947917)

ENSEMBL Gene Tree for IFNGR1 (if available)
TreeFam Gene Tree for IFNGR1 (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

UniProtKB/Swiss-Prot: INGR1_HUMAN, P15260

Polymorphism: A genetic variation in the IFNGR1 gene is associated with susceptibility to Helicobacter pylori infection

[MIM:600263]

SNP ID	Valid	Clinical significance	Chr 6 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs104893974^1,2	C	pathogenic	175156202(-)	`TGCCTA/GCATCA`	2	Y C	mis¹		0	--	--	--	--
rs104893973^1,2	C	pathogenic	175156232(-)	`TAATAC/TTTCTG`	2	T I	mis¹		0	--	--	--	--
rs17181471^1,2	C,F	probable-non-pathogenic	175143195(-)	`GGTGTG/AAGCAG`	2	/V	syn¹		6		NS NA EU	5483
rs41288981^1,2	C,F	probable-non-pathogenic	175158092(+)	`GTTTCG/AGGATC`	2	/P	syn¹		3		NA EU	5991
rs17175350^1,2	C,F,H	probable-non-pathogenic	175164114(-)	`CATGCA/CTACCG`	2	H P	mis¹ ese³		8		NS NA	5350
rs121913171^1,2	C	untested	175142899(-)	`TTAACC/TTTTGC`	1	--	us2k¹		0	--	--	--	--
rs121913173^1,2	C	untested	175143256(-)	`GCGGCA/CGGGCT`	1	--	int¹		0	--	--	--	--
rs121913174^1,2	C	untested	175155328(-)	`TGTGGC/TATCTT`	1	--	int¹		0	--	--	--	--
rs137854904^1,2	C,F	untested	175158141(-)	`TGAACG/AGAAGT`	2	/R /G	mis¹		1		NA	4546
rs121913178^1,2	C	untested	175158665(-)	`TAAAGC/TTATTT`	1	--	int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for IFNGR1 (137518621 - 137540586 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for IFNGR1
2 CNVs: 7524 3641
Human Gene Mutation Database (HGMD): IFNGR1

Locus Specific Mutation Databases (LSDB): IFNGR1

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing IFNGR1

DNA2.0 Custom Variant and Variant Library Synthesis for IFNGR1

(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

IFNGR1 for disorders           About GeneDecksing

OMIM gene information: 107470
OMIM disorders: 209950  600263  607948  610424
UniProtKB/Swiss-Prot: INGR1_HUMAN, P15260

Defects in IFNGR1 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

20/79 diseases for IFNGR1 (see all 79): About MalaCards

mycobacterial infection mycobacterium tuberculosis infection, protection against bcg infection, generalized familial h. pylori infection

interferon gamma, receptor 1, deficiency mycobacterium avium complex disease bcg infection diffuse large b-cell lymphoma

subacute sclerosing panencephalitis hepatitis b virus infection typhoid fever b-cell lymphomas

dengue hemorrhagic fever pre-eclampsia mycobacterium tuberculosis lepromatous leprosy

vesicoureteral reflux hemorrhagic fever paratyphoid fever visceral leishmaniasis

3 diseases from the University of Copenhagen DISEASES database for IFNGR1:

Tuberculosis Mycobacterium avium complex disease Osteomyelitis

10/25 Novoseek disease relationships for IFNGR1 gene (see all 25) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
mycobacterial infection	85.7	16	17514500 (2), 11139207 (1), 16602008 (1), 11020837 (1) (see all 12)
immune disorder	48.2	4	10811850 (1), 12165204 (1), 9355958 (1)
tuberculosis	46	23	17339358 (5), 12753505 (3), 9389728 (3), 18702743 (2) (see all 10)
osteomyelitis	43.3	4	11865431 (2), 11139207 (1), 19880337 (1)
immunodeficiency	40	8	11139207 (1), 12805054 (1), 17513528 (1), 15589309 (1) (see all 5)
tuberculosis pulmonary	37.2	7	17392024 (2), 17023216 (1), 15047947 (1), 17339358 (1) (see all 6)
genetic susceptibility	36.8	1	15661020 (1)
schistosomiasis	28.2	2	15830877 (2)
granuloma	27.6	6	9389728 (2), 18972195 (1), 12804068 (1)
infectious disease	23.1	1	17136124 (1)

Genatlas disease: IFNGR1

susceptibility to BCG and non tuberculous mycobacterial infections (interferon gamma,receptor 1 deficiency),severe

form,associated with a defect in mature granulomas in patients with complete deficiency,familial or sporadic

Genetic Association Database (GAD): IFNGR1
Human Genome Epidemiology (HuGE) Navigator: IFNGR1 (72 documents)

Export disorders for IFNGR1 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 IFNGR1 gene, integrated from 9 sources (see all 260):
(articles sorted by number of sources associating them with IFNGR1)

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

Missense mutations of the interleukin-12 receptor beta 1(IL12RB1) and interferon-gamma receptor 1 (IFNGR1) genes are not associated with susceptibility to lepromatous leprosy in Korea. (PubMed id 12743658)^{1, 4, 9} Lee S.B....Chae G.T. (2003)
No association between interferon-gamma receptor-1 gene polymorphism and pulmonary tuberculosis in a Gambian population sample. (PubMed id 15047947)^{1, 4, 9} Awomoyi A.A....Newport M.J. (2004)
Genetic polymorphisms in the promoter of the interferon gamma receptor 1 gene are associated with atopic cataracts. (PubMed id 17251453)^{1, 7, 9} Matsuda A....Kinoshita S. (2007)
Partial interferon-gamma receptor 1 deficiency in a child with tuberculoid bacillus Calmette-Guerin infection and a sibling with clinical tuberculosis. (PubMed id 9389728)^{1, 2, 9} Jouanguy E.... Casanova J.-L. (1997)
Lack of association between interferon-gamma receptor-1 polymorphism and pulmonary TB in Iranian population sample. (PubMed id 16233916)^{1, 4, 9} Mirsaeidi S.M....Masjedi M.R. (2006)
In a novel form of IFN-gamma receptor 1 deficiency, cell surface receptors fail to bind IFN-gamma. (PubMed id 10811850)^{1, 2, 9} Jouanguy E.... Casanova J.-L. (2000)
A novel single-nucleotide substitution, Leu 467 Pro, in the interferon-gamma receptor 1 gene associated with allergic diseases. (PubMed id 12851715)^{1, 4, 9} Aoki M....Kondo N. (2003)
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)
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)
Polymorphisms in an interferon-gamma receptor-1 gene marker and susceptibility to periodontitis. (PubMed id 14763782)^{1, 4, 9} Fraser D.A....Dembic Z. (2003)

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

		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: 3459	HGNC: 5439	AceView: IFNGR1	Ensembl:ENSG00000027697	euGenes: HUgn3459
ECgene: IFNGR1	Kegg: 3459	H-InvDB: IFNGR1

(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 IFNGR1	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for IFNGR1	Genetics and Cytogenetics in Oncology and Haematology
IFNGR1base	http://bioinf.uta.fi/IFNGR1base/
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/IFNGR1
SeattleSNPs	http://pga.gs.washington.edu/data/ifngr1/

Intellectual Property for IFNGR1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for IFNGR1 gene:
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GeneCards and IP:
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(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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interferon gamma receptor 1

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IFNGR1 Gene

interferon gamma receptor 1

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