IFNGR2 (interferon gamma receptor 2)

Gene

• Entrez ID: 3460
• Gene name: Interferon gamma receptor 2
• Gene symbol: IFNGR2
• Synonyms (NCBI Gene): AF-1, IFGR2, IFNGT1, IMD28
• Chromosome: 21
• Chromosome location: 21q22.11
• Summary: 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)

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs74315444	C>A	Pathogenic	Missense variant, coding sequence variant
rs398122890	->ACAATG	Pathogenic	Inframe insertion, coding sequence variant
rs587776822	AG>-	Pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT027145	hsa-miR-103a-3p	Sequencing	20371350
MIRT030035	hsa-miR-26b-5p	Microarray	19088304
MIRT046534	hsa-miR-15b-5p	CLASH	23622248
MIRT036154	hsa-miR-1296-5p	CLASH	23622248
MIRT711317	hsa-miR-654-3p	HITS-CLIP	19536157
MIRT711316	hsa-miR-370-3p	HITS-CLIP	19536157
MIRT711315	hsa-miR-6893-3p	HITS-CLIP	19536157
MIRT711314	hsa-miR-4786-5p	HITS-CLIP	19536157
MIRT711313	hsa-miR-769-5p	HITS-CLIP	19536157
MIRT711312	hsa-miR-626	HITS-CLIP	19536157
MIRT711311	hsa-miR-6876-3p	HITS-CLIP	19536157
MIRT711310	hsa-miR-6895-3p	HITS-CLIP	19536157
MIRT298242	hsa-miR-593-3p	HITS-CLIP	19536157
MIRT711309	hsa-miR-346	HITS-CLIP	19536157
MIRT711308	hsa-miR-6818-3p	HITS-CLIP	19536157
MIRT711307	hsa-miR-4288	HITS-CLIP	19536157
MIRT711306	hsa-miR-632	HITS-CLIP	19536157
MIRT531220	hsa-miR-7151-5p	PAR-CLIP	22012620
MIRT531219	hsa-miR-4275	PAR-CLIP	22012620
MIRT531218	hsa-miR-4666a-5p	PAR-CLIP	22012620
MIRT531217	hsa-miR-4639-5p	PAR-CLIP	22012620
MIRT531216	hsa-miR-6885-3p	PAR-CLIP	22012620
MIRT711317	hsa-miR-654-3p	HITS-CLIP	19536157
MIRT711316	hsa-miR-370-3p	HITS-CLIP	19536157
MIRT711315	hsa-miR-6893-3p	HITS-CLIP	19536157
MIRT711314	hsa-miR-4786-5p	HITS-CLIP	19536157
MIRT711313	hsa-miR-769-5p	HITS-CLIP	19536157
MIRT711312	hsa-miR-626	HITS-CLIP	19536157
MIRT711311	hsa-miR-6876-3p	HITS-CLIP	19536157
MIRT711310	hsa-miR-6895-3p	HITS-CLIP	19536157
MIRT298242	hsa-miR-593-3p	HITS-CLIP	19536157
MIRT711309	hsa-miR-346	HITS-CLIP	19536157
MIRT711308	hsa-miR-6818-3p	HITS-CLIP	19536157
MIRT711307	hsa-miR-4288	HITS-CLIP	19536157
MIRT711306	hsa-miR-632	HITS-CLIP	19536157
MIRT531220	hsa-miR-7151-5p	PAR-CLIP	22012620
MIRT531219	hsa-miR-4275	PAR-CLIP	22012620
MIRT531218	hsa-miR-4666a-5p	PAR-CLIP	22012620
MIRT531217	hsa-miR-4639-5p	PAR-CLIP	22012620
MIRT531216	hsa-miR-6885-3p	PAR-CLIP	22012620
MIRT1060896	hsa-miR-1343	CLIP-seq
MIRT1060897	hsa-miR-3074-5p	CLIP-seq
MIRT1060898	hsa-miR-3591-5p	CLIP-seq
MIRT1060899	hsa-miR-3647-3p	CLIP-seq
MIRT1060900	hsa-miR-3658	CLIP-seq
MIRT1060901	hsa-miR-4255	CLIP-seq
MIRT1060902	hsa-miR-4775	CLIP-seq
MIRT1060903	hsa-miR-590-3p	CLIP-seq
MIRT2246424	hsa-miR-135a	CLIP-seq
MIRT2246425	hsa-miR-135b	CLIP-seq
MIRT2246426	hsa-miR-147	CLIP-seq
MIRT2246427	hsa-miR-3182	CLIP-seq
MIRT2246428	hsa-miR-345	CLIP-seq
MIRT2246429	hsa-miR-3661	CLIP-seq
MIRT2246430	hsa-miR-4256	CLIP-seq
MIRT2246431	hsa-miR-4283	CLIP-seq
MIRT2246432	hsa-miR-4660	CLIP-seq
MIRT2246433	hsa-miR-4690-3p	CLIP-seq
MIRT2246434	hsa-miR-4695-3p	CLIP-seq
MIRT2246435	hsa-miR-579	CLIP-seq
MIRT2246436	hsa-miR-593	CLIP-seq
MIRT2246437	hsa-miR-631	CLIP-seq
MIRT2246438	hsa-miR-646	CLIP-seq
MIRT2246439	hsa-miR-767-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0001774	Process	Microglial cell activation	IEA
GO:0004896	Function	Cytokine receptor activity	IBA
GO:0004906	Function	Type II interferon receptor activity	IDA	20015550
GO:0004906	Function	Type II interferon receptor activity	TAS	9616207
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	HDA	16780588
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005886	Component	Plasma membrane	HDA	16780588
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	20015550
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	8910544
GO:0007166	Process	Cell surface receptor signaling pathway	TAS	9616207
GO:0009615	Process	Response to virus	TAS	8124716
GO:0016020	Component	Membrane	IEA
GO:0019221	Process	Cytokine-mediated signaling pathway	IBA
GO:0030659	Component	Cytoplasmic vesicle membrane	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0038196	Process	Type III interferon-mediated signaling pathway	IDA	20015550
GO:0051607	Process	Defense response to virus	IEA
GO:0060333	Process	Type II interferon-mediated signaling pathway	NAS	15864272
GO:0098586	Process	Cellular response to virus	NAS	15864272
GO:1900451	Process	Positive regulation of glutamate receptor signaling pathway	IEA

Other IDs

• MIM: 147569
• HGNC: 5440
• e!Ensembl: ENSG00000159128

Protein

• UniProt ID: P38484
• Protein name: Interferon gamma receptor 2 (IFN-gamma receptor 2) (IFN-gamma-R2) (Interferon gamma receptor accessory factor 1) (AF-1) (Interferon gamma receptor beta-chain) (IFN-gamma-R-beta) (Interferon gamma transducer 1)
• Protein function: Associates with IFNGR1 to form a receptor for the cytokine interferon gamma (IFNG) (PubMed:7615558, PubMed:7673114, PubMed:8124716). Ligand binding stimulates activation of the JAK/STAT signaling pathway (PubMed:15356148, PubMed:7673114, PubMed:
• PDB: 5EH1, 6E3K, 6E3L
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01108	Tissue_fac	4 → 126	Tissue factor	Family
  PF09294	Interfer-bind	138 → 238	Interferon-alpha/beta receptor, fibronectin type III	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in T-cells (at protein level). {ECO:0000269|PubMed:10605012}.
• Sequence:

  MRPTLLWSLLLLLGVFAAAAAAPPDPLSQLPAPQHPKIRLYNAEQVLSWEPVALSNSTRP
  VVYQVQFKYTDSKWFTADIMSIGVNCTQITATECDFTAASPSAGFPMDFNVTLRLRAELG
  ALHSAWVTMPWFQHYRNVTVGPPENIEVTPGEGSLIIRFSSPFDIADTSTAFFCYYVHYW
  EKGGIQQVKGPFRSNSISLDNLKPSRVYCLQVQAQLLWNKSNIFRVGHLSNISCYETMAD
  ASTELQQVILISVGTFSLLSVLAGACFFLVLKYRGLIKYWFHTPPSIPLQIEEYLKDPTQ
  PILEALDKDSSPKDDVWDSVSIISFPEKEQEDVLQTL

• Sequence length: 337

Pathways

KEGG:

Cytokine-cytokine receptor interaction
HIF-1 signaling pathway
Necroptosis
Osteoclast differentiation
JAK-STAT signaling pathway
Natural killer cell mediated cytotoxicity
Th1 and Th2 cell differentiation
Th17 cell differentiation
Leishmaniasis
Chagas disease
Toxoplasmosis
Tuberculosis
Influenza A
Herpes simplex virus 1 infection
Pathways in cancer
PD-L1 expression and PD-1 checkpoint pathway in cancer
Inflammatory bowel disease

Reactome:

Interferon gamma signaling
Regulation of IFNG signaling

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Immunodeficiency 28	Likely pathogenic; Pathogenic	rs1316638883, rs2123368937, rs2123370265, rs587776822, rs74315444, rs587776823, rs398122890, rs1319389333, rs2083655919	RCV001376896 RCV001389082 RCV001728186 RCV000015847 RCV000015848 RCV000015849 RCV000030825 RCV001221073 RCV001268955 RCV001269033

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
IFNGR2-related disorder	Conflicting classifications of pathogenicity; Benign; Likely benign	rs121913212, rs1012938610, rs17885407, rs17878639, rs186369364	RCV003935085 RCV003935529 RCV003915627 RCV003930814 RCV003930760
Immunodeficiency 27A	Benign; Likely benign	rs121913208, rs149173957	RCV000624928 RCV000624929
Interferon gamma receptor deficiency	Benign; Conflicting classifications of pathogenicity	rs4986958, rs193922682	RCV000030045 RCV000030046
Lung cancer	Benign; Likely benign	rs17885407	RCV005897091
Ovarian serous cystadenocarcinoma	Benign; Likely benign	rs17885407	RCV005897090
Susceptibility to severe COVID-19	Likely risk allele	rs2516962940	RCV003120369
Uterine corpus endometrial carcinoma	Uncertain significance	rs375538161	RCV005924111

Associations from Text Mining
Disease Name	Relationship Type	References
Alzheimer Disease	Associate	29848382
Anodontia	Associate	36321611
Anus Neoplasms	Associate	23609590
Arthritis Rheumatoid	Associate	25708927
Asthma	Associate	19247692
Autoimmune Diseases	Associate	24023707
Breast Neoplasms	Associate	23996684, 27927249
Carcinoma Renal Cell	Associate	31921143
Chronic Periodontitis	Associate	30304122
Colonic Neoplasms	Associate	37370088
Colorectal Neoplasms	Associate	21859832, 29408916
COVID 19	Associate	35694544
Craniosynostoses	Associate	29106381
Cystic Fibrosis	Associate	19399182
Cytomegalovirus Infections	Associate	15356149
Diabetes Mellitus Type 2	Associate	39202464
Down Syndrome	Associate	32572726, 33260695
Genetic Diseases Inborn	Associate	15356149
Glioma	Associate	36321611
Heart Defects Congenital	Associate	33260695
Heart Diseases	Associate	33260695
Hemochromatosis	Associate	36321611
Huntington Disease	Associate	29848382
Hypergammaglobulinemia	Associate	26162572
Immune System Diseases	Associate	34293519
Immunologic Deficiency Syndromes	Stimulate	23963039
Immunologic Deficiency Syndromes	Associate	23963039
Inflammation	Associate	17328839, 29434065, 35694544
Interferon gamma receptor 1 deficiency	Inhibit	37277724
Intervertebral Disc Degeneration	Associate	36081453
Invasive Pneumococcal Disease Recurrent Isolated 2	Associate	31497017, 34293519
Leukemia Myeloid Acute	Associate	26246143, 31921143, 33356802
Lupus Erythematosus Systemic	Associate	10403400
Lymphoma B Cell	Associate	20952689
Lymphoma Non Hodgkin	Associate	20952689, 36321611
Meningitis Cryptococcal	Associate	22523911
Mycobacterium avium intracellulare Infection	Associate	15356149
Mycobacterium Infections Nontuberculous	Associate	15356149
Myocardial Infarction	Associate	29434065
Myositis Inclusion Body	Stimulate	21855683
Neoplasms	Associate	24875049, 26491227, 31921143, 34487971
Parkinson Disease	Associate	18197754
Periodontal Diseases	Associate	22995210
Polycythemia Vera	Associate	26491227
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	1826223
Primary Immunodeficiency Diseases	Associate	26162572, 31497017
Primary Myelofibrosis	Associate	32331228
Prostatic Neoplasms	Associate	36577061
Q Fever	Associate	40056764
Rectal Neoplasms	Associate	21859832
Sezary Syndrome	Associate	8695857
Tooth Erosion	Associate	25708927
Tuberculosis	Associate	19116662, 22057826