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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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Q99665 |
| Protein name |
Interleukin-12 receptor subunit beta-2 (IL-12 receptor subunit beta-2) (IL-12R subunit beta-2) (IL-12R-beta-2) (IL-12RB2) |
| Protein function |
Receptor for interleukin-12. This subunit is the signaling component coupling to the JAK2/STAT4 pathway. Promotes the proliferation of T-cells as well as NK cells. Induces the promotion of T-cells towards the Th1 phenotype by strongly enhancing |
| PDB |
8XRP
, 8YI7
|
| Family and domains |
Pfam
| Accession |
ID |
Position in sequence |
Description |
Type |
| PF06328 |
Lep_receptor_Ig |
28 → 110 |
Ig-like C2-type domain |
Domain |
| PF00041 |
fn3 |
422 → 511 |
Fibronectin type III domain |
Domain |
|
| Tissue specificity |
TISSUE SPECIFICITY: Isoform 2 is expressed at similar levels in both naive and activated T-cells. {ECO:0000269|PubMed:9120388}. |
| Sequence |
|
| Sequence length |
862 |
| Interactions |
View interactions |
| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Acute myeloid leukemia |
Benign |
rs2252596 |
RCV005909579 |
| Cervical cancer |
Likely benign |
rs148793796 |
RCV005930579 |
| Cholangiocarcinoma |
Benign |
rs2252596 |
RCV005909584 |
| Chronic lymphocytic leukemia/small lymphocytic lymphoma |
Benign |
rs17129920 |
RCV005867096 |
| Clear cell carcinoma of kidney |
Benign; Likely benign |
rs144657291, rs2307148, rs2307154 |
RCV005914465 RCV005907921 RCV005907922 |
| Familial cancer of breast |
Uncertain significance |
rs554412658 |
RCV005925611 |
| Gastric cancer |
Likely benign |
rs549837313 |
RCV005930582 |
| Hepatocellular carcinoma |
Uncertain significance |
rs201695193 |
RCV005926422 |
| IL12RB2-related disorder |
Likely benign; Benign; Conflicting classifications of pathogenicity; Uncertain significance |
rs578200723, rs2307147, rs2307145, rs2307153, rs144657291, rs150877640, rs553975974, rs199946237, rs191377276, rs769052274, rs116462549, rs138205538, rs773182032, rs78878673, rs752089329, rs763813144, rs1656591233, rs17129772, rs17129792, rs61731150, rs2307148, rs2307154, rs17129777, rs149390309, rs2307146, rs17129906 View all (11 more) |
RCV003938761 RCV003980596 RCV003983929 RCV003966087 RCV003940941 RCV003941195 RCV003418265 RCV003978604 RCV003950973 RCV003978895 RCV003913505 RCV003941281 RCV003958686 RCV003923550 RCV003926648 RCV003391288 RCV003956791 RCV003915881 RCV003978268 RCV003970767 RCV003935819 RCV003935820 RCV003936073 RCV003930715 RCV003955914 RCV003975642 |
| Lung cancer |
Benign; Likely benign |
rs2252596, rs144657291 |
RCV005909585 RCV005914467 |
| Lymphoma |
Benign |
rs17129920 |
RCV005867095 |
| Malignant lymphoma, large B-cell, diffuse |
Benign |
rs2252596 |
RCV005909581 |
| Nonpapillary renal cell carcinoma |
Benign |
rs17129920 |
RCV005867092 |
| Ovarian cancer |
Benign |
rs17129920 |
RCV005867093 |
| Ovarian serous cystadenocarcinoma |
Benign; Likely benign |
rs144657291 |
RCV005914466 |
| Sarcoma |
Benign |
rs2252596 |
RCV005909582 |
| Thymoma |
Benign |
rs2252596 |
RCV005909583 |
| Uterine corpus endometrial carcinoma |
Benign; Likely benign |
rs144657291 |
RCV005914468 |
| Uveal melanoma |
Benign |
rs2252596, rs17129920 |
RCV005909580 RCV005867094 |
|
| Disease Name |
Relationship Type |
References |
| Adenocarcinoma of Lung |
Associate |
23269987 |
| Asthma |
Associate |
19473523, 29794786 |
| Asthma |
Stimulate |
24641287 |
| Atrioventricular Septal Defect |
Associate |
27396555 |
| Autoimmune Diseases |
Associate |
34149710, 9120388 |
| Behcet Syndrome |
Associate |
22378604, 24859272, 29017598 |
| Common Variable Immunodeficiency |
Associate |
14616794 |
| Crohn Disease |
Associate |
17682002, 19235914, 23071489 |
| Crohn Disease |
Stimulate |
39586377 |
| Dermatitis Atopic 1 |
Inhibit |
17179689 |
| Diabetes Mellitus Type 1 |
Inhibit |
15667574 |
| Diabetes Mellitus Type 1 |
Associate |
23152861 |
| Down Syndrome |
Associate |
27396555 |
| Drug Hypersensitivity |
Stimulate |
24641287 |
| Drug Hypersensitivity |
Associate |
9120388 |
| Fibrosis |
Associate |
28299343 |
| HIV Infections |
Associate |
10419892 |
| Huntington Disease |
Associate |
25430993 |
| Idiopathic Noncirrhotic Portal Hypertension |
Associate |
28299343 |
| Ige Responsiveness Atopic |
Associate |
17179689 |
| Inflammation |
Associate |
19279650, 34149710 |
| Laryngeal Neoplasms |
Associate |
30355949 |
| Leprosy |
Associate |
11441083, 15976343 |
| Leprosy Lepromatous |
Associate |
15976343 |
| Leprosy Tuberculoid |
Stimulate |
11441083 |
| Leprosy Tuberculoid |
Associate |
15976343 |
| Leukemia Myeloid Acute |
Associate |
36518627 |
| Liver Cirrhosis Biliary |
Associate |
19458352, 23152861, 24375552, 25690649, 28299343 |
| Lupus Erythematosus Systemic |
Associate |
34149710, 34952359 |
| Lyme Disease |
Associate |
17177959 |
| Lymphoma |
Associate |
19359411 |
| Malaria |
Associate |
32801995 |
| Malaria Cerebral |
Inhibit |
32801995 |
| Multiple Sclerosis |
Associate |
11238569, 22182694 |
| Neoplasms |
Associate |
23269987, 29446854, 30355949, 33196683 |
| Neoplasms |
Inhibit |
24351840 |
| Paraparesis Tropical Spastic |
Stimulate |
15572854 |
| Pemphigus |
Inhibit |
16946717 |
| Prostatic Neoplasms |
Associate |
37108754 |
| Pulmonary Disease Chronic Obstructive |
Associate |
35923356 |
| Spondylitis Ankylosing |
Associate |
26916345 |
| Squamous Cell Carcinoma of Head and Neck |
Associate |
25475780, 39282247 |
| Tuberculosis |
Associate |
22509293 |
| Uterine Cervical Neoplasms |
Associate |
23280621 |
| Uterine Cervicitis |
Associate |
23280621 |
| Uveomeningoencephalitic Syndrome |
Associate |
24859272 |
| Zika Virus Infection |
Associate |
34125832 |
|