IFNGR2 (interferon gamma receptor 2)

Gene

• Entrez ID: 3460
• Gene name: Interferon gamma receptor 2
• Gene symbol: IFNGR2
• Synonyms: 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: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

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

• 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
Disease name	Disease term	dbSNP ID	References
Immunodeficiency	IMMUNODEFICIENCY 28	rs1565678077, rs121908002, rs1421444086, rs1565688667, rs944235493, rs121918314, rs587776713, rs137852678, rs587776714, rs128620188, rs2147483647, rs1569556522, rs137853331, rs137853332, rs179363866, rs483352928, rs121918659, rs111033580, rs111033581, rs74315290, rs193922740, rs193922741, rs104894199, rs483352927, rs104894286, rs1571865049, rs886041032, rs2069709, rs587776822, rs74315444, rs587776823, rs1315265916, rs104893893, rs104893894, rs121434560, rs387906572, rs587776853, rs104893973, rs587776854, rs587776855, rs587776857, rs104893974, rs121912715, rs1393707607, rs113994136, rs387906593, rs587776870, rs387906763, rs387906913, rs199469663, rs199469662, rs199469664, rs193922640, rs193922641, rs193922645, rs398122890, rs387907316, rs397514710, rs398122383, rs397515453, rs397514332, rs398123058, rs397518423, rs587777075, rs199676861, rs77563738, rs587777337, rs28730670, rs587777389, rs587777390, rs587777413, rs587777414, rs587777415, rs587777416, rs267608260, rs267608261, rs587778405, rs587777446, rs587777562, rs587777564, rs587777565, rs869320745, rs587777709, rs606231305, rs672601318, rs727503779, rs727503780, rs730880296, rs786200953, rs375323253, rs794729666, rs886041037, rs886041038, rs796051887, rs796051888, rs749956849, rs199641706, rs775739391, rs869312886, rs869312857, rs879253731, rs879253732, rs201025290, rs770927552, rs878853275, rs878853276, rs878853277, rs878853278, rs1567506566, rs886037920, rs886037921, rs750610248, rs200044623, rs886043118, rs886060531, rs1057519074, rs1057519075, rs1057518744, rs1057519079, rs1057518745, rs1057518746, rs1057518747, rs782178147, rs55729925, rs1064795762, rs1064794957, rs1085307649, rs745463649, rs773694113, rs1192554889, rs779575307, rs1554051075, rs1554051067, rs1554051033, rs1554067182, rs1555167566, rs1555169270, rs1555908409, rs1555719963, rs1554064929, rs768091235, rs1404084330, rs144104577, rs1553238837, rs1553243550, rs1554020278, rs1554066684, rs762678772, rs570768621, rs1443126481, rs1553721236, rs121434258, rs888230251, rs1759915032, rs1759514836, rs138156467, rs1560914625, rs755373718, rs1561423197, rs1560938296, rs200803157, rs766555082, rs201543770, rs114951157, rs775578531, rs201128237, rs778624945, rs1563340753, rs1561772403, rs1484948342, rs777878144, rs1562364898, rs1561254290, rs1569296295, rs1568815169, rs1568822574, rs1571880832, rs934523851, rs1922072844, rs1266114717, rs137869655, rs869320689, rs1571880941, rs1580875488, rs1581303476, rs1448018291, rs1390410878, rs774803573, rs1591278347, rs1602300615, rs1601340933, rs757598952, rs1181595292, rs1408683294, rs1595843113, rs1595848141, rs779560450, rs1595816926, rs1601861196, rs1601861199, rs756541321, rs1594389703, rs1594390415, rs1581401865, rs1236009877, rs753213766, rs778993919, rs1602878106, rs141698985, rs1264504989, rs1580974401, rs2093571190, rs530286781, rs2086875746, rs2089298923, rs1206185362, rs1581573705, rs1596718225, rs1004337827, rs1573613529, rs1574636674, rs1574657735, rs1574657762, rs1574672718, rs1581573640, rs1553657429, rs200666300, rs1578735747, rs1578771211, rs1578793312, rs1578795536, rs1578809101, rs1578811073, rs1578811245, rs1171694504, rs1578971328, rs140800288, rs374333820, rs1584926133, rs1585040113, rs1584409386, rs1379376784, rs1586940273, rs1587143342, rs748910652, rs1592117677, rs758555433, rs1596712783, rs34019455, rs147766868, rs751386365, rs1600631294, rs1489114116, rs1057520578, rs1603007888, rs1603008329, rs1574450161, rs1578735709, rs1403833564, rs1580262965, rs570910902, rs1589866171, rs1578999313, rs1582635229, rs1582637044, rs1580851910, rs1750760771, rs745453685, rs1249197356, rs201840561, rs1940921909, rs1941410085, rs1941465194, rs1321690789, rs1302362911, rs1730552437, rs2052705192, rs1941856970	23963039, 10608793, 30264912, 22902943, 15924140
Inflammatory bowel disease	Inflammatory Bowel Diseases	rs137853579, rs137853580, rs121909601, rs149491038, rs368287711, rs387907326, rs587777338, rs758439420, rs139868987, rs750447828, rs368138379, 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, rs483353038, rs61731956, rs568165874, rs767480544	24076602
Psoriasis	Psoriasis	rs281875215, rs587777763, rs281875213, rs281875212	26974007, 25854761

Unknown
Disease name	Disease term	dbSNP ID	References
Ankylosing spondylitis	Ankylosing spondylitis		26974007
Cholangitis	Cholangitis, Sclerosing		26974007
Crohn disease	Crohn Disease	rs2066847, rs2066844, rs886052047, rs5743265, rs111608429, rs104895438	26974007, 23128233, 26192919, 22936669, 28067908
Immunologic deficiency syndromes	Immunologic Deficiency Syndromes
Ulcerative colitis	Ulcerative Colitis		26974007