Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
3455
|
Gene name
Gene Name - the full gene name approved by the HGNC.
|
Interferon alpha and beta receptor subunit 2 |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
|
IFNAR2 |
Synonyms (NCBI Gene)
Gene synonyms aliases
|
IFN-R, IFN-R-2, IFN-alpha-REC, IFNABR, IFNARB, IMD45 |
Disease Acronyms (UniProt)
Disease acronyms from UniProt database
|
IMD45 |
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.
|
The protein encoded by this gene is a type I membrane protein that forms one of the two chains of a receptor for interferons alpha and beta. Binding and activation of the receptor stimulates Janus protein kinases, which in turn phosphorylate several prote |
UniProt ID |
P48551
|
Protein name |
Interferon alpha/beta receptor 2 (IFN-R-2) (IFN-alpha binding protein) (IFN-alpha/beta receptor 2) (Interferon alpha binding protein) (Type I interferon receptor 2) |
Protein function |
Together with IFNAR1, forms the heterodimeric receptor for type I interferons (including interferons alpha, beta, epsilon, omega and kappa) (PubMed:10049744, PubMed:10556041, PubMed:21854986, PubMed:26424569, PubMed:28165510, PubMed:32972995, Pu |
PDB |
1N6U
,
1N6V
,
2HYM
,
2KZ1
,
2LAG
,
3S8W
,
3S9D
,
3SE3
,
3SE4
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF01108
|
Tissue_fac |
8 → 121 |
Tissue factor |
Family |
PF09294
|
Interfer-bind |
132 → 231 |
Interferon-alpha/beta receptor, fibronectin type III |
Domain |
|
Tissue specificity |
TISSUE SPECIFICITY: Isoform 3 is detected in the urine (at protein level) (PubMed:7759950, PubMed:8181059). Expressed in blood cells. Expressed in lymphoblastoid and fibrosarcoma cell lines. {ECO:0000269|PubMed:7588638, ECO:0000269|PubMed:7759950, ECO:000 |
Sequence |
|
Sequence length |
515 |
Interactions |
View interactions
|
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Immunodeficiency |
IMMUNODEFICIENCY 45, IMMUNODEFICIENCY 44 |
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, 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, 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 View all (256 more) |
26424569 |
|
Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Narcolepsy |
Narcolepsy |
|
|
GWAS |
Lung adenocarcinoma |
Lung adenocarcinoma |
Validation that loss of Tgfbr2 results in more aggressive and T cell-excluded KP lung tumors |
|
GWAS, CBGDA |
Attention Deficit Hyperactivity Disorder |
Attention Deficit Hyperactivity Disorder |
|
|
GWAS |
Diabetes |
Diabetes |
|
|
GWAS |
|
Associations from Text Mining |
Disease Name |
Relationship Type |
References |
Adenocarcinoma of Lung |
Associate
|
27058892 |
Alzheimer Disease |
Associate
|
29848382 |
Autoimmune Diseases |
Associate
|
24023707 |
Calcinosis Cutis |
Associate
|
21350947 |
Carcinoma Hepatocellular |
Associate
|
16106266, 17941012, 19401692 |
Carcinoma Non Small Cell Lung |
Associate
|
35081872 |
Carcinoma Renal Cell |
Associate
|
17697365, 21350947 |
Colorectal Neoplasms |
Associate
|
31869529 |
Coronavirus Infections |
Associate
|
36927455 |
COVID 19 |
Associate
|
33259846, 33307546, 33837377, 33949668, 34183789, 34273592, 34823125, 34824360, 35212764, 35264675, 35442417, 35486090, 35659055, 35967349, 36127160, 36292769, 36433939, 36672770, 36927455, 37085563, 37095364, 37442134, 37896870, 39344392 View all (9 more) |
COVID 19 |
Stimulate
|
33604698 |
Death |
Associate
|
36672770 |
Diabetes Mellitus Type 1 |
Associate
|
33083497 |
Diabetes Mellitus Type 2 |
Associate
|
39344392 |
Down Syndrome |
Associate
|
32572726, 33260695, 36243008 |
Drug Hypersensitivity |
Associate
|
36243008 |
Glioma |
Associate
|
28475775 |
Heart Defects Congenital |
Associate
|
33260695 |
Heart Diseases |
Associate
|
33260695 |
Hepatitis B |
Associate
|
16757563 |
Hepatitis B Chronic |
Stimulate
|
23663046 |
Hepatitis C |
Stimulate
|
22870788 |
Hepatitis Chronic |
Stimulate
|
22870788 |
Huntington Disease |
Associate
|
29848382 |
Hypersensitivity Immediate |
Associate
|
32572726 |
Immunologic Deficiency Syndromes |
Associate
|
35442417 |
Infections |
Associate
|
34273592, 36292769 |
Inflammation |
Associate
|
22228203, 38112945, 40542358 |
Influenza Human |
Associate
|
35442417, 35486090 |
Liver Cirrhosis |
Stimulate
|
23663046 |
Liver Diseases |
Associate
|
15991303 |
Lupus Erythematosus Systemic |
Associate
|
34419106 |
Lymphohistiocytosis Hemophagocytic |
Associate
|
35442417 |
Meningoencephalitis |
Associate
|
35442417 |
Multiple Sclerosis |
Inhibit
|
27346865 |
Multiple Sclerosis |
Associate
|
33104735 |
Mumps |
Associate
|
18715339 |
Myasthenia Gravis |
Associate
|
36864526 |
Neoplasm Metastasis |
Associate
|
17697365 |
Neoplasms |
Associate
|
16106266, 17697365, 21350947, 34715892 |
Neoplasms |
Inhibit
|
24367615, 27058892 |
Obesity |
Associate
|
39344392 |
Osteoporosis |
Associate
|
35757478 |
pediatric multisystem inflammatory disease COVID 19 related |
Associate
|
37896870 |
Polyps |
Associate
|
37085563 |
Post Acute COVID 19 Syndrome |
Associate
|
38112945, 38522030 |
Respiratory Distress Syndrome |
Associate
|
36927455 |
RNA Virus Infections |
Associate
|
35663470 |
Rubella |
Associate
|
18715339 |
Scleroderma Systemic |
Associate
|
20112391 |
Sjogren's Syndrome |
Associate
|
34413853 |
Venous Thromboembolism |
Associate
|
33259846 |
Virus Diseases |
Associate
|
35442417 |
|