Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	3460
Gene name Gene Name - the full gene name approved by the HGNC.	Interferon gamma receptor 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	IFNGR2
Synonyms (NCBI Gene) Gene synonyms aliases	AF-1, IFGR2, IFNGT1, IMD28
Disease Acronyms (UniProt) Disease acronyms from UniProt database	IMD28
Chromosome Chromosome number	21
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	21q22.11
Summary Summary of gene provided in NCBI Entrez Gene.	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)

Show/Hide all(3)

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

Show/Hide all(64)

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

Show/Hide all(17)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0004896	Function	Cytokine receptor activity	IBA	21873635
GO:0004906	Function	Interferon-gamma receptor activity	TAS	9616207
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005783	Component	Endoplasmic reticulum	HDA	16780588
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005886	Component	Plasma membrane	HDA	16780588
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	TAS	8910544
GO:0007166	Process	Cell surface receptor signaling pathway	TAS	9616207
GO:0009615	Process	Response to virus	TAS	8124716
GO:0016021	Component	Integral component of membrane	IBA	21873635
GO:0019221	Process	Cytokine-mediated signaling pathway	IBA	21873635
GO:0030659	Component	Cytoplasmic vesicle membrane	IEA
GO:0060333	Process	Interferon-gamma-mediated signaling pathway	TAS
GO:0060334	Process	Regulation of interferon-gamma-mediated signaling pathway	TAS

MIM	HGNC	e!Ensembl
147569	5440	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

Interactions

View interactions

	KEGG		Reactome
	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		Interferon gamma signaling Regulation of IFNG signaling

Show/Hide Causal Diseases (4)

Disease term	Disease name	dbSNP ID	References
Causal
Immunodeficiency	IMMUNODEFICIENCY 28	rs1565678077, rs121908002, rs1421444086, rs1565688667, rs944235493, rs121918314, rs587776713, rs137852678, rs587776714, rs128620188, rs2147483647, rs1569556522, rs137853331, rs137853332, rs179363866 View all (256 more)	23963039, 10608793, 30264912, 22902943, 15924140
Inflammatory bowel disease	Inflammatory Bowel Diseases	rs137853579, rs137853580, rs121909601, rs149491038, rs368287711, rs387907326, rs587777338, rs758439420, rs1329427406, rs1264862631, rs1192830343, rs1373354533, rs1419560997, rs1591263883, rs1989014468	26192919, 28067908
Multiple sclerosis	Multiple Sclerosis	rs104895219, rs483353022, rs483353023, rs483353028, rs483353029, rs483353024, rs483353030, rs3207617, rs483353031, rs483353032, rs483353033, rs483353034, rs483353035, rs483353036, rs483353039 View all (4 more)	24076602
Psoriasis	Psoriasis	rs281875215, rs587777763, rs281875213, rs281875212	26974007, 25854761

Show/Hide Unknown Diseases (6)

Disease term	Disease name	Evidence	References	Source
Unknown
Crohn disease	Crohn Disease		26974007, 23128233, 26192919, 22936669, 28067908	ClinVar
Rheumatoid arthritis	Rheumatoid arthritis			GWAS
Crohn Disease	Crohn Disease			GWAS
Multiple Sclerosis	Multiple Sclerosis			GWAS
Inflammatory Bowel Disease	Inflammatory Bowel Disease			GWAS
Glioblastoma	Glioblastoma	CRISPR screening of E3 ubiquitin ligases reveals Ring Finger Protein 185 as a novel tumor suppressor in glioblastoma repressed by promoter hypermethylation and miR-587		GWAS, CBGDA

Show/Hide Text Mining Associations (53)

Disease Name	Relationship Type	References
Associations from Text Mining
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

IFNGR2 (interferon gamma receptor 2)