Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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3594
|
Gene name
Gene Name - the full gene name approved by the HGNC.
|
Interleukin 12 receptor subunit beta 1 |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
|
IL12RB1 |
Synonyms (NCBI Gene)
Gene synonyms aliases
|
CD212, IL-12R-BETA1, IL12RB, IMD30 |
Disease Acronyms (UniProt)
Disease acronyms from UniProt database
|
IMD30 |
Chromosome
Chromosome number
|
19 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
19p13.11 |
Summary
Summary of gene provided in NCBI Entrez Gene.
|
The protein encoded by this gene is a type I transmembrane protein that belongs to the hemopoietin receptor superfamily. This protein binds to interleukine 12 (IL12) with a low affinity, and is thought to be a part of IL12 receptor complex. This protein f |
SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs11575925 |
G>C |
Conflicting-interpretations-of-pathogenicity |
Missense variant, upstream transcript variant, coding sequence variant, genic upstream transcript variant |
rs121434492 |
G>A |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, stop gained |
rs121434493 |
G>A |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, stop gained |
rs121434494 |
G>A |
Pathogenic |
Coding sequence variant, missense variant |
rs121434495 |
A>G |
Pathogenic |
5 prime UTR variant, coding sequence variant, missense variant |
rs147766868 |
G>A,C,T |
Uncertain-significance, pathogenic |
Missense variant, stop gained, coding sequence variant |
rs554063682 |
A>C |
Pathogenic |
Splice donor variant, genic downstream transcript variant |
rs564884307 |
C>A,T |
Uncertain-significance, pathogenic |
5 prime UTR variant, stop gained, missense variant, coding sequence variant |
rs587776680 |
C>G,T |
Pathogenic |
Splice donor variant |
rs756272570 |
C>G,T |
Likely-pathogenic |
Coding sequence variant, intron variant, missense variant |
rs1057524791 |
A>T |
Likely-pathogenic |
Coding sequence variant, 5 prime UTR variant, missense variant |
rs1202592147 |
G>A,C |
Pathogenic |
Synonymous variant, genic upstream transcript variant, upstream transcript variant, stop gained, coding sequence variant |
rs1476855887 |
C>- |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, frameshift variant |
rs1555782866 |
T>A |
Pathogenic |
Coding sequence variant, stop gained |
rs1568515222 |
CCCG>- |
Pathogenic |
Genic upstream transcript variant, coding sequence variant, frameshift variant, upstream transcript variant |
rs1599555124 |
T>- |
Pathogenic |
Genic upstream transcript variant, coding sequence variant, frameshift variant, upstream transcript variant |
|
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Immunodeficiency |
IMMUNODEFICIENCY 30 |
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) |
12591909, 11424023, 21487897, 9603733, 21057261, 27141500 |
Liver failure |
Liver Failure |
rs118203990, rs118203991, rs118203992, rs387907022, rs201861847, rs796065037, rs759315662, rs368196005, rs796052121, rs369437593, rs367683258, rs766314948, rs368085185, rs770446752, rs753039116, rs776797592, rs1490906786, rs1562849964, rs759960319, rs776597537, rs375350359, rs1573008071, rs1601977105, rs1174791046, rs1019313682 View all (10 more) |
|
Osteoporosis |
Osteoporosis |
rs72658152, rs72667023, rs587776916, rs72656370, rs768615287 |
|
|
Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Celiac disease |
Celiac Disease |
|
|
ClinVar |
Cirrhosis |
Cirrhosis |
|
|
ClinVar |
|
Associations from Text Mining |
Disease Name |
Relationship Type |
References |
Adenocarcinoma |
Associate
|
23280621 |
Anemia Hemolytic |
Associate
|
28266204 |
Anthrax |
Associate
|
30255293 |
Arthrogryposis |
Associate
|
21905505, 30255293, 30740107 |
Asthma |
Associate
|
22325360, 29256176 |
Autoimmune Diseases |
Associate
|
28266204 |
Behcet Syndrome |
Associate
|
12932289, 24859272 |
Bone Diseases Metabolic |
Associate
|
20350312 |
Breast Neoplasms |
Associate
|
23996684 |
Bronchopneumonia |
Associate
|
22992471, 23410226 |
Candidiasis |
Associate
|
21905505, 29025965 |
Candidiasis Chronic Mucocutaneous |
Associate
|
30627128, 34390440 |
Candidiasis Oral |
Associate
|
21905505, 29025965, 30627128 |
Carcinoma Hepatocellular |
Stimulate
|
28732507 |
Central Nervous System Diseases |
Associate
|
36740310 |
Cleft Lip |
Associate
|
28266204 |
Common Variable Immunodeficiency |
Stimulate
|
14616794 |
Common Variable Immunodeficiency |
Associate
|
33190167 |
Communicable Diseases |
Associate
|
28266204 |
COVID 19 |
Associate
|
35694544, 36740310 |
Crohn Disease |
Associate
|
19235914, 19249008 |
Disease |
Associate
|
28266204 |
Eczema |
Associate
|
34390440 |
Eosinophilic enteropathy |
Associate
|
21812800 |
Hypergammaglobulinemia |
Associate
|
26162572 |
IgA Deficiency |
Associate
|
21812800 |
Immunologic Deficiency Syndromes |
Associate
|
21812800, 22992471, 36192705 |
Infections |
Associate
|
22523911, 29256176 |
Inflammation |
Associate
|
35694544 |
Interferon gamma receptor 1 deficiency |
Associate
|
30998751 |
Interleukin 2 Receptor Alpha Deficiency of |
Inhibit
|
19839503 |
Interleukin 2 Receptor Alpha Deficiency of |
Associate
|
22992471 |
Invasive Pneumococcal Disease Recurrent Isolated 2 |
Associate
|
18591412, 21905505, 28266204, 29025965, 29256176, 30255293, 30740107, 30998751, 33225392, 36740310 |
Job Syndrome |
Associate
|
34390440 |
Leiomyoma |
Associate
|
17222831 |
Liver Cirrhosis Biliary |
Associate
|
20639880 |
Lymphadenitis |
Associate
|
21905505, 29025965 |
Lymphoma Non Hodgkin |
Associate
|
21418175 |
Meningitis Cryptococcal |
Associate
|
22523911 |
Midline Defects X Linked |
Associate
|
28266204 |
Musculoskeletal Abnormalities |
Associate
|
34390440 |
Mycobacterium Infections |
Associate
|
21812800, 36192705 |
Mycobacterium Infections Nontuberculous |
Associate
|
29256176 |
Mycoses |
Associate
|
28266204 |
Neoplasms |
Associate
|
34715892 |
Neurofibromatosis 1 |
Associate
|
19839503 |
Nocardia Infections |
Associate
|
19839503 |
Oropharyngeal Neoplasms |
Associate
|
37175405 |
Osteomyelitis |
Associate
|
30255293 |
Primary Immunodeficiency Diseases |
Associate
|
26162572, 33225392 |
Prostatic Neoplasms |
Associate
|
37108754 |
Purpura Thrombocytopenic Idiopathic |
Stimulate
|
25621490 |
Salmonella Infections |
Associate
|
19839503, 28266204 |
Sandhoff Disease |
Inhibit
|
36740310 |
Sarcoidosis |
Associate
|
36192705 |
Scleroderma Systemic |
Associate
|
32977850 |
Severe Acute Respiratory Syndrome |
Associate
|
18478121, 20350312 |
Sezary Syndrome |
Associate
|
11442758 |
Status Asthmaticus |
Stimulate
|
15108702 |
Tangier Disease |
Associate
|
20350312 |
Tuberculosis |
Associate
|
29256176, 30740107, 30968642, 36740310 |
Tuberculosis Meningeal |
Associate
|
29256176 |
Uveomeningoencephalitic Syndrome |
Associate
|
24859272 |
|