IFNGR1 (interferon gamma receptor 1)

Gene

• Entrez ID: 3459
• Gene name: Interferon gamma receptor 1
• Gene symbol: IFNGR1
• Synonyms: CD119, IFNGR, IMD27A, IMD27B
• Chromosome: 6
• Chromosome location: 6q23.3
• Summary: 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 inf

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs104893973	A>G	Risk-factor, pathogenic	Coding sequence variant, missense variant
rs104893974	C>T	Pathogenic	Coding sequence variant, missense variant
rs121912715	A>C,G,T	Pathogenic	Missense variant, coding sequence variant
rs193922451	C>A	Likely-pathogenic	Splice acceptor variant
rs387906572	G>A,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs387906593	A>C,T	Pathogenic	Genic upstream transcript variant, initiator codon variant, 5 prime UTR variant, missense variant, upstream transcript variant
rs587776853	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs587776854	->GTAA	Pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant
rs587776855	C>T	Pathogenic	Splice donor variant
rs587776856	AATT>-	Pathogenic	Frameshift variant, coding sequence variant
rs587776857	CTCTGACCCAAA>-	Pathogenic	Inframe deletion, coding sequence variant
rs587776859	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs587776860	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs749956849	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs753213766	GGCACTGTA>-	Pathogenic	Intron variant, 5 prime UTR variant, coding sequence variant, splice acceptor variant
rs1236009877	T>A	Likely-pathogenic	Intron variant
rs1554227230	A>G	Likely-pathogenic	Splice donor variant
rs1582634064	C>A	Likely-pathogenic	Splice donor variant
rs1582634237	ACAC>GG	Pathogenic	Coding sequence variant, frameshift variant
rs1582635229	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1582637044	A>G	Likely-pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT005032	hsa-miR-155-5p	Flow, Luciferase reporter assay, Northern blot	19877012
MIRT027722	hsa-miR-98-5p	Microarray	19088304
MIRT048216	hsa-miR-196a-5p	CLASH	23622248
MIRT047257	hsa-miR-181b-5p	CLASH	23622248
MIRT544315	hsa-miR-548az-5p	PAR-CLIP	20371350
MIRT544314	hsa-miR-548t-5p	PAR-CLIP	20371350
MIRT544313	hsa-miR-3609	PAR-CLIP	20371350
MIRT544312	hsa-miR-548ah-5p	PAR-CLIP	20371350
MIRT516458	hsa-miR-3714	PAR-CLIP	20371350
MIRT516457	hsa-miR-1910-3p	PAR-CLIP	20371350
MIRT516456	hsa-miR-6511a-5p	PAR-CLIP	20371350
MIRT516455	hsa-miR-3919	PAR-CLIP	20371350
MIRT516453	hsa-miR-4795-5p	PAR-CLIP	20371350
MIRT516452	hsa-miR-187-5p	PAR-CLIP	20371350
MIRT516451	hsa-miR-3616-5p	PAR-CLIP	20371350
MIRT516450	hsa-miR-573	PAR-CLIP	20371350
MIRT544315	hsa-miR-548az-5p	PAR-CLIP	21572407
MIRT544314	hsa-miR-548t-5p	PAR-CLIP	21572407
MIRT544313	hsa-miR-3609	PAR-CLIP	21572407
MIRT544312	hsa-miR-548ah-5p	PAR-CLIP	21572407
MIRT516458	hsa-miR-3714	PAR-CLIP	21572407
MIRT516457	hsa-miR-1910-3p	PAR-CLIP	21572407
MIRT516456	hsa-miR-6511a-5p	PAR-CLIP	21572407
MIRT516455	hsa-miR-3919	PAR-CLIP	21572407
MIRT516458	hsa-miR-3714	PAR-CLIP	23446348
MIRT516457	hsa-miR-1910-3p	PAR-CLIP	23446348
MIRT516456	hsa-miR-6511a-5p	PAR-CLIP	23446348
MIRT516455	hsa-miR-3919	PAR-CLIP	23446348
MIRT516454	hsa-miR-1283	PAR-CLIP	23446348
MIRT516453	hsa-miR-4795-5p	PAR-CLIP	23446348
MIRT516452	hsa-miR-187-5p	PAR-CLIP	23446348
MIRT516451	hsa-miR-3616-5p	PAR-CLIP	23446348
MIRT516450	hsa-miR-573	PAR-CLIP	23446348
MIRT544315	hsa-miR-548az-5p	PAR-CLIP	20371350
MIRT544314	hsa-miR-548t-5p	PAR-CLIP	20371350
MIRT544313	hsa-miR-3609	PAR-CLIP	20371350
MIRT544312	hsa-miR-548ah-5p	PAR-CLIP	20371350
MIRT516458	hsa-miR-3714	PAR-CLIP	20371350
MIRT516457	hsa-miR-1910-3p	PAR-CLIP	20371350
MIRT516456	hsa-miR-6511a-5p	PAR-CLIP	20371350
MIRT516455	hsa-miR-3919	PAR-CLIP	20371350
MIRT516453	hsa-miR-4795-5p	PAR-CLIP	20371350
MIRT516452	hsa-miR-187-5p	PAR-CLIP	20371350
MIRT516451	hsa-miR-3616-5p	PAR-CLIP	20371350
MIRT516450	hsa-miR-573	PAR-CLIP	20371350
MIRT544315	hsa-miR-548az-5p	PAR-CLIP	21572407
MIRT544314	hsa-miR-548t-5p	PAR-CLIP	21572407
MIRT544313	hsa-miR-3609	PAR-CLIP	21572407
MIRT544312	hsa-miR-548ah-5p	PAR-CLIP	21572407
MIRT516458	hsa-miR-3714	PAR-CLIP	21572407
MIRT516457	hsa-miR-1910-3p	PAR-CLIP	21572407
MIRT516456	hsa-miR-6511a-5p	PAR-CLIP	21572407
MIRT516455	hsa-miR-3919	PAR-CLIP	21572407
MIRT516458	hsa-miR-3714	PAR-CLIP	23446348
MIRT516457	hsa-miR-1910-3p	PAR-CLIP	23446348
MIRT516456	hsa-miR-6511a-5p	PAR-CLIP	23446348
MIRT516455	hsa-miR-3919	PAR-CLIP	23446348
MIRT516454	hsa-miR-1283	PAR-CLIP	23446348
MIRT516453	hsa-miR-4795-5p	PAR-CLIP	23446348
MIRT516452	hsa-miR-187-5p	PAR-CLIP	23446348
MIRT516451	hsa-miR-3616-5p	PAR-CLIP	23446348
MIRT516450	hsa-miR-573	PAR-CLIP	23446348
MIRT1060893	hsa-miR-520d-5p	CLIP-seq
MIRT1060894	hsa-miR-524-5p	CLIP-seq
MIRT1060895	hsa-miR-586	CLIP-seq
MIRT2014219	hsa-miR-198	CLIP-seq
MIRT2014220	hsa-miR-548a-3p	CLIP-seq
MIRT2014221	hsa-miR-548e	CLIP-seq
MIRT2014222	hsa-miR-548f	CLIP-seq
MIRT2014223	hsa-miR-548g	CLIP-seq
MIRT2014224	hsa-miR-665	CLIP-seq
MIRT2246420	hsa-miR-3064-3p	CLIP-seq
MIRT2246421	hsa-miR-3647-3p	CLIP-seq
MIRT2246422	hsa-miR-548ah	CLIP-seq
MIRT2246423	hsa-miR-548t	CLIP-seq
MIRT2014219	hsa-miR-198	CLIP-seq
MIRT2549923	hsa-miR-3146	CLIP-seq
MIRT2549924	hsa-miR-3973	CLIP-seq
MIRT2549925	hsa-miR-4251	CLIP-seq
MIRT2549926	hsa-miR-4303	CLIP-seq
MIRT2549927	hsa-miR-4329	CLIP-seq
MIRT2549928	hsa-miR-433	CLIP-seq
MIRT2549929	hsa-miR-4422	CLIP-seq
MIRT2549930	hsa-miR-4494	CLIP-seq
MIRT2549931	hsa-miR-4662a-3p	CLIP-seq
MIRT2549932	hsa-miR-4666-3p	CLIP-seq
MIRT2549933	hsa-miR-4762-3p	CLIP-seq
MIRT2549934	hsa-miR-499a-5p	CLIP-seq
MIRT1060893	hsa-miR-520d-5p	CLIP-seq
MIRT2549935	hsa-miR-520g	CLIP-seq
MIRT2549936	hsa-miR-520h	CLIP-seq
MIRT1060894	hsa-miR-524-5p	CLIP-seq
MIRT2014220	hsa-miR-548a-3p	CLIP-seq
MIRT2246422	hsa-miR-548ah	CLIP-seq
MIRT2014221	hsa-miR-548e	CLIP-seq
MIRT2014222	hsa-miR-548f	CLIP-seq
MIRT2014223	hsa-miR-548g	CLIP-seq
MIRT2246423	hsa-miR-548t	CLIP-seq
MIRT2014224	hsa-miR-665	CLIP-seq
MIRT2549937	hsa-miR-891b	CLIP-seq
MIRT2014219	hsa-miR-198	CLIP-seq
MIRT2549923	hsa-miR-3146	CLIP-seq
MIRT2682637	hsa-miR-3647-5p	CLIP-seq
MIRT2549924	hsa-miR-3973	CLIP-seq
MIRT2549925	hsa-miR-4251	CLIP-seq
MIRT2549926	hsa-miR-4303	CLIP-seq
MIRT2549927	hsa-miR-4329	CLIP-seq
MIRT2549928	hsa-miR-433	CLIP-seq
MIRT2549929	hsa-miR-4422	CLIP-seq
MIRT2549930	hsa-miR-4494	CLIP-seq
MIRT2549931	hsa-miR-4662a-3p	CLIP-seq
MIRT2549932	hsa-miR-4666-3p	CLIP-seq
MIRT2549933	hsa-miR-4762-3p	CLIP-seq
MIRT2549934	hsa-miR-499a-5p	CLIP-seq
MIRT1060893	hsa-miR-520d-5p	CLIP-seq
MIRT2549935	hsa-miR-520g	CLIP-seq
MIRT2549936	hsa-miR-520h	CLIP-seq
MIRT1060894	hsa-miR-524-5p	CLIP-seq
MIRT2014220	hsa-miR-548a-3p	CLIP-seq
MIRT2246422	hsa-miR-548ah	CLIP-seq
MIRT2014221	hsa-miR-548e	CLIP-seq
MIRT2014222	hsa-miR-548f	CLIP-seq
MIRT2014223	hsa-miR-548g	CLIP-seq
MIRT2246423	hsa-miR-548t	CLIP-seq
MIRT2014224	hsa-miR-665	CLIP-seq
MIRT2549937	hsa-miR-891b	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
IRF2	Repression	18281489
SP1	Unknown	11477089

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001774	Process	Microglial cell activation	ISS
GO:0004896	Function	Cytokine receptor activity	IBA	21873635
GO:0004906	Function	Interferon-gamma receptor activity	TAS	2971451
GO:0005515	Function	Protein binding	IPI	7617032, 8156998, 8662591, 11250200, 15780933, 28514442, 32296183
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	TAS	2971451
GO:0007165	Process	Signal transduction	TAS	2971451
GO:0009615	Process	Response to virus	TAS	2954953
GO:0010628	Process	Positive regulation of gene expression	ISS
GO:0016021	Component	Integral component of membrane	IBA	21873635
GO:0019221	Process	Cytokine-mediated signaling pathway	IBA	21873635
GO:0019955	Function	Cytokine binding	IEA
GO:0032760	Process	Positive regulation of tumor necrosis factor production	ISS
GO:0048143	Process	Astrocyte activation	ISS
GO:0060333	Process	Interferon-gamma-mediated signaling pathway	TAS
GO:0060334	Process	Regulation of interferon-gamma-mediated signaling pathway	TAS
GO:1900222	Process	Negative regulation of amyloid-beta clearance	ISS
GO:1902004	Process	Positive regulation of amyloid-beta formation	ISS

Other IDs

• MIM: 107470
• HGNC: 5439
• e!Ensembl: ENSG00000027697

Protein

• UniProt ID: P15260
• Protein name: Interferon gamma receptor 1 (IFN-gamma receptor 1) (IFN-gamma-R1) (CDw119) (Interferon gamma receptor alpha-chain) (IFN-gamma-R-alpha) (CD antigen CD119)
• Protein function: Receptor subunit for interferon gamma/INFG that plays crucial roles in antimicrobial, antiviral, and antitumor responses by activating effector immune cells and enhancing antigen presentation (PubMed:20015550). Associates with transmembrane acce
• PDB: 1FG9, 1FYH, 1JRH, 6E3K, 6E3L
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01108	Tissue_fac	2 → 113	Tissue factor	Family
  PF07140	IFNGR1	161 → 324	Interferon gamma receptor (IFNGR1)	Family

• Sequence:

  MALLFLLPLVMQGVSRAEMGTADLGPSSVPTPTNVTIESYNMNPIVYWEYQIMPQVPVFT
  VEVKNYGVKNSEWIDACINISHHYCNISDHVGDPSNSLWVRVKARVGQKESAYAKSEEFA
  VCRDGKIGPPKLDIRKEEKQIMIDIFHPSVFVNGDEQEVDYDPETTCYIRVYNVYVRMNG
  SEIQYKILTQKEDDCDEIQCQLAIPVSSLNSQYCVSAEGVLHVWGVTTEKSKEVCITIFN
  SSIKGSLWIPVVAALLLFLVLSLVFICFYIKKINPLKEKSIILPKSLISVVRSATLETKP
  ESKYVSLITSYQPFSLEKEVVCEEPLSPATVPGMHTEDNPGKVEHTEELSSITEVVTTEE
  NIPDVVPGSHLTPIERESSSPLSSNQSEPGSIALNSYHSRNCSESDHSRNGFDTDSSCLE
  SHSSLSDSEFPPNNKGEIKTEGQELITVIKAPTSFGYDKPHVLVDLLVDDSGKESLIGYR
  PTEDSKEFS

• Sequence length: 489

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
Kaposi sarcoma-associated herpesvirus infection
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
Anemia	Anemia	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505
Immunodeficiency	IMMUNODEFICIENCY 27A, IMMUNODEFICIENCY 27B	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	20015550, 11139207, 25592983, 15589309, 9497247, 20186794, 17514500, 22708048, 19880337, 10811850, 12712974, 9389728, 28744922, 27868075, 16715106, 16195661, 9497247
Osteomyelitis	Osteomyelitis	rs11125529, rs10936599, rs7675998, rs398652, rs755017

Unknown
Disease name	Disease term	dbSNP ID	References
Anorexia	Anorexia
Endometrioma	Endometrioma		21063030
Endometriosis	Endometriosis	rs1800629, rs1143634	21063030
Enlarged lymph nodes	Generalized enlarged lymph nodes
Histiocytosis	Histiocytosis
Hypoalbuminemia	Hypoalbuminemia
Ifn-gamma receptor 1 deficiency	IFN-gamma Receptor 1 Deficiency		10192386, 11583830, 20015550, 18171304
Immunologic deficiency syndromes	Immunologic Deficiency Syndromes
Interferon gamma receptor deficiency	Interferon gamma receptor deficiency, Interferon gamma, receptor 1, deficiency
Myocardial ischemia	Myocardial Ischemia		16214533
Oral ulcer	Oral Ulcer		30837455
Thrombocytosis	Thrombocytosis