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

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	3459
Gene name Gene Name - the full gene name approved by the HGNC.	Interferon gamma receptor 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	IFNGR1
Synonyms (NCBI Gene) Gene synonyms aliases	CD119, IFNGR, IMD27A, IMD27B
Disease Acronyms (UniProt) Disease acronyms from UniProt database	IMD27A, IMD27B
Chromosome Chromosome number	6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	6q23.3
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(21)

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

Show/Hide all(126)

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

Show/Hide all(2)

Transcription factor	Regulation	Reference
IRF2	Repression	18281489
SP1	Unknown	11477089

Show/Hide all(20)

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

MIM	HGNC	e!Ensembl
107470	5439	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

Interactions

View interactions

Show/Hide Causal Diseases (2)

Disease term	Disease name	dbSNP ID	References
Causal
Anemia	Anemia	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966 View all (89 more)
Immunodeficiency	IMMUNODEFICIENCY 27A, IMMUNODEFICIENCY 27B	rs1565678077, rs121908002, rs1421444086, rs1565688667, rs944235493, rs121918314, rs587776713, rs137852678, rs587776714, rs128620188, rs2147483647, rs1569556522, rs137853331, rs137853332, rs179363866 View all (256 more)	20015550, 11139207, 25592983, 15589309, 9497247, 20186794, 17514500, 22708048, 19880337, 10811850, 12712974, 9389728, 28744922, 27868075, 16715106, 16195661 View all (1 more)

Show/Hide Unknown Diseases (5)

Disease term	Disease name	References	Source
Unknown
Endometriosis	Endometriosis	21063030	ClinVar
Osteomyelitis	Osteomyelitis		ClinVar
Metabolic Syndrome	Metabolic Syndrome		GWAS
Hypertension	Hypertension		GWAS
Diabetes	Diabetes		GWAS

Show/Hide Text Mining Associations (83)

Disease Name	Relationship Type	References
Associations from Text Mining
Adenocarcinoma	Associate	35328735
Anthrax	Associate	36069176, 9389728
Arthritis Rheumatoid	Associate	25708927
Asthma	Associate	24475887
Barrett Esophagus	Associate	35328735
Behcet Syndrome	Stimulate	29534057
Behcet Syndrome	Associate	33393726
Blindness	Inhibit	26931784
Carcinogenesis	Associate	24453034
Carcinoma Hepatocellular	Associate	33667716
Carcinoma Non Small Cell Lung	Associate	31222843, 37979167
Cartilage Diseases	Associate	19285161
Chemical and Drug Induced Liver Injury	Associate	10441577
Chronic recurrent multifocal osteomyelitis	Associate	23585529
Cleft Palate	Associate	34646402
Colorectal Neoplasms	Associate	21859832, 25350395, 29408916
COVID 19	Associate	36260452, 37569646
Cystic Fibrosis	Associate	21731057
Cystitis Interstitial	Associate	36045687
Depressive Disorder	Associate	24726621
Dermatitis Atopic	Associate	26343451
Diabetes Mellitus Type 1	Associate	22344559
Environmental Illness	Associate	21266457
Esophageal Squamous Cell Carcinoma	Associate	34148879
Fibrosis	Associate	10441577
Genetic Diseases Inborn	Associate	21460021
Giant Cell Arteritis	Associate	36533991
Glioblastoma	Associate	37158962
Granuloma	Associate	9389728
Graves Disease	Associate	35720300
Hepatitis C	Inhibit	25265476
Hypergammaglobulinemia	Associate	26162572
Immunologic Deficiency Syndromes	Associate	26931784
Infections	Associate	21509779, 26931784
Inflammation	Associate	17328839, 36797040
Inflammatory Bowel Diseases	Associate	35653895, 36643579
Interferon gamma receptor 1 deficiency	Associate	21266457, 26343451
Interferon gamma receptor 1 deficiency	Inhibit	37277724
Invasive Pneumococcal Disease Recurrent Isolated 2	Associate	21266457, 23036270, 23585529, 23800860, 32676075, 36069176
Kaposi Varicelliform Eruption	Associate	26343451
Latent Tuberculosis	Associate	31687049
Leprosy	Associate	21460021
Leprosy Tuberculoid	Associate	9389728
Leukemia	Associate	37610672
Leukemia Lymphoma Adult T Cell	Associate	34906138
Leukemia Myeloid Acute	Associate	26246143, 33356802
Liver Cirrhosis	Associate	10441577
Liver Diseases	Associate	25265476
Lung Diseases	Associate	28719321
Lupus Erythematosus Systemic	Associate	10403400, 31090539
Lupus Nephritis	Associate	39224582
Lymphoma B Cell	Associate	23800860
Multiple Myeloma	Associate	17300840
Multiple Sclerosis Relapsing Remitting	Inhibit	27036414
Mycobacterium avium intracellulare Infection	Associate	12805054, 21266457
Mycobacterium Infections	Associate	28719321
Mycobacterium Infections Nontuberculous	Associate	11139207, 12805054, 15047947, 17513528, 17514500, 28719321, 32676075, 8960473, 9389728
Myocardial Infarction	Associate	39261934
Neoplasms	Associate	30753225, 31408414, 36040405, 36271507
Obesity	Associate	33315090
Osteomyelitis	Associate	11139207, 27356097
Parkinson Disease	Associate	18197754
Periodontal Diseases	Associate	22995210
Primary Immunodeficiency Diseases	Associate	26162572
Prostatic Neoplasms Castration Resistant	Associate	35127252
Prostatitis	Associate	34646402
Pulmonary Arterial Hypertension	Stimulate	20808962
Pulmonary Arterial Hypertension	Associate	33539912
Rectal Neoplasms	Associate	21859832
Seizures	Associate	38166692
Smoldering Multiple Myeloma	Associate	26668134
Spinal Cord Injuries	Associate	33863336
Stomach Neoplasms	Associate	24453034
Stomach Neoplasms	Stimulate	30873760
Supranuclear Palsy Progressive	Associate	33635380
talaromycosis	Associate	36180657
Thyroiditis Autoimmune	Associate	25127106
Triple Negative Breast Neoplasms	Associate	32923150
Tuberculosis	Associate	19575238, 9389728
Tuberculosis Pulmonary	Inhibit	17339358
Tuberculosis Pulmonary	Associate	19575238, 31687049
Vasculitis	Associate	36797040
Weight Loss	Associate	33315090

IFNGR1 (interferon gamma receptor 1)