UniProt ID |
Q13469
|
Protein name |
Nuclear factor of activated T-cells, cytoplasmic 2 (NF-ATc2) (NFATc2) (NFAT pre-existing subunit) (NF-ATp) (T-cell transcription factor NFAT1) |
Protein function |
Plays a role in the inducible expression of cytokine genes in T-cells, especially in the induction of the IL-2, IL-3, IL-4, TNF-alpha or GM-CSF (PubMed:15790681). Promotes invasive migration through the activation of GPC6 expression and WNT5A si |
PDB |
1A02
,
1OWR
,
1P7H
,
1PZU
,
1S9K
,
2AS5
,
2O93
,
3QRF
,
8OW4
,
8R07
,
8R3F
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF00554
|
RHD_DNA_bind |
410 → 570 |
Rel homology DNA-binding domain |
Domain |
PF16179
|
RHD_dimer |
579 → 679 |
Rel homology dimerisation domain |
Domain |
|
Tissue specificity |
TISSUE SPECIFICITY: Expressed in thymus, spleen, heart, testis, brain, placenta, muscle and pancreas. Isoform 1 is highly expressed in the small intestine, heart, testis, prostate, thymus, placenta and thyroid. Isoform 3 is highly expressed in stomach, ut |
Sequence |
|
Sequence length |
925 |
Interactions |
View interactions
|
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Diabetes mellitus |
Diabetes Mellitus, Non-Insulin-Dependent |
rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs80356663, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs371977235, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261 View all (293 more) |
30718926 |
Hypertension |
Hypertensive disease |
rs13306026 |
30487518 |
Leukemia |
Leukemia, Myelocytic, Acute |
rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297 |
27903959 |
Lymphoblastic leukemia |
Precursor Cell Lymphoblastic Leukemia Lymphoma |
rs387906351, rs104894562, rs398122513, rs398122840, rs1057524466, rs1064796115, rs1064795660, rs1064793129, rs1064796227, rs1567887558, rs1161194345, rs1597558200, rs1406320425, rs1597566470, rs1597566699, rs1597567692, rs1597567985, rs1438890364, rs1288977950, rs1597552140, rs1597566356, rs1597566726, rs1597568117, rs2069719445, rs2069729948, rs2070018439, rs745708044, rs1169577591 View all (13 more) |
25987655 |
Schizophrenia |
Schizophrenia |
rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 View all (12 more) |
28924203, 21926974 |
|
Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Congenital Heart Disease |
congenital heart disease |
|
|
GenCC |
Eczema |
Eczema |
|
|
GWAS |
Diabetes |
Diabetes |
|
|
GWAS |
Asthma |
Asthma |
|
|
GWAS |
Metabolic Syndrome |
Metabolic Syndrome |
|
|
GWAS |
Psoriasis |
Psoriasis |
|
|
GWAS |
Alzheimer disease |
Alzheimer disease |
|
|
GWAS |
|
Associations from Text Mining |
Disease Name |
Relationship Type |
References |
Accessory Nerve Injuries |
Stimulate
|
35892263 |
Adenocarcinoma |
Stimulate
|
21192845 |
Adenocarcinoma of Lung |
Associate
|
34257525 |
Anemia Aplastic |
Associate
|
17463169 |
Arthritis Rheumatoid |
Associate
|
25376468 |
Asthma |
Stimulate
|
33079489 |
Bone Cysts |
Associate
|
34081036 |
Bone Neoplasms |
Associate
|
24993903, 32327700, 34310785 |
Brain Ischemia |
Associate
|
22363514 |
Breast Neoplasms |
Associate
|
16880514, 21964595, 27809618, 35265226, 37399784, 40496857 |
Burkitt Lymphoma |
Associate
|
12594826, 35472072 |
Carcinogenesis |
Associate
|
28504924 |
Carcinoma Hepatocellular |
Associate
|
22787160, 27458175, 31181320, 33023539, 33754043 |
Carcinoma Non Small Cell Lung |
Associate
|
21192845, 34257525 |
Carcinoma Pancreatic Ductal |
Associate
|
25299780 |
Carcinoma Squamous Cell |
Associate
|
34257525 |
Carcinosarcoma |
Associate
|
25918253 |
Cholangiocarcinoma |
Stimulate
|
37285922 |
Chondrosarcoma Mesenchymal |
Associate
|
32327700 |
Colonic Neoplasms |
Associate
|
15632146 |
Colorectal Neoplasms |
Associate
|
26795951, 28504924 |
Contracture |
Associate
|
35789258 |
Coronary Artery Disease |
Inhibit
|
32183825 |
Cytomegalovirus Infections |
Associate
|
27327144 |
Diabetes Mellitus Type 1 |
Inhibit
|
22332874 |
Diabetic Nephropathies |
Associate
|
35885938 |
Down Syndrome |
Associate
|
23830204 |
Drug Hypersensitivity |
Associate
|
25987655 |
Drug Hypersensitivity |
Stimulate
|
33079489 |
Edema |
Associate
|
20628086 |
End Stage Liver Disease |
Inhibit
|
29054923 |
Eosinophilia |
Associate
|
33079489 |
Fibrous Dysplasia Polyostotic |
Associate
|
34310785 |
Giant Cell Tumor of Bone |
Associate
|
24993903 |
Glioblastoma |
Associate
|
23762456, 24130787 |
Glioma |
Associate
|
37452092 |
Gout |
Associate
|
31738005 |
Heart Diseases |
Associate
|
24486774 |
Heart Failure |
Associate
|
22363514 |
Hemangioma |
Associate
|
34081036 |
Hypereosinophilic Syndrome |
Associate
|
16219537 |
Hypersensitivity Immediate |
Associate
|
12594826 |
Hypoxia |
Stimulate
|
29426911 |
Immune Reconstitution Inflammatory Syndrome |
Stimulate
|
28316373 |
Immunoglobulin Light chain Amyloidosis |
Associate
|
32922167 |
Intervertebral Disc Degeneration |
Associate
|
40561275 |
Leukemia Lymphocytic Chronic B Cell |
Associate
|
23936412 |
Liposarcoma Myxoid |
Associate
|
30895378, 32362012 |
Lupus Erythematosus Systemic |
Stimulate
|
17237447 |
Lupus Erythematosus Systemic |
Associate
|
20506525, 25225673 |
Lymphoma B Cell |
Associate
|
35789258 |
Lymphoma T Cell Peripheral |
Associate
|
23716562 |
Melanoma |
Associate
|
22718120 |
Melanoma |
Stimulate
|
30459241 |
Mucocutaneous Lymph Node Syndrome |
Stimulate
|
32183825 |
Mucocutaneous Lymph Node Syndrome |
Associate
|
36779231, 36974504 |
Multiple Myeloma |
Associate
|
32922167 |
Multiple Sclerosis |
Associate
|
31170158, 34584155 |
Myopathies Structural Congenital |
Stimulate
|
30459241 |
Narcolepsy |
Associate
|
26333835, 32358372, 32669953 |
Nasopharyngeal Carcinoma |
Associate
|
30772768 |
Neoplasm Metastasis |
Associate
|
21964595, 30772768 |
Neoplasm Metastasis |
Stimulate
|
30459241, 37285922 |
Neoplasms |
Associate
|
21192845, 22787160, 23762456, 26795951, 30459241, 31659097, 32327700, 32362012, 34081036, 36555836, 37285922, 37452092, 38035702 |
Neoplasms |
Stimulate
|
28504924 |
Neoplasms |
Inhibit
|
33023539 |
Neuralgia |
Associate
|
35892263 |
Neutropenia |
Associate
|
19344427 |
Osteochondroma |
Associate
|
35789258 |
Pancreatic Neoplasms |
Associate
|
28774282, 30696421, 38035702 |
Periodic fever familial autosomal dominant |
Associate
|
30696421 |
Personality Disorders |
Inhibit
|
33023539 |
Precursor Cell Lymphoblastic Leukemia Lymphoma |
Associate
|
25987655 |
Pulmonary Disease Chronic Obstructive |
Stimulate
|
23905758 |
Renal cell carcinoma 1 |
Associate
|
35789258 |
Renal Insufficiency |
Associate
|
32123936 |
Sarcoidosis |
Inhibit
|
21177920 |
Sarcoidosis |
Associate
|
22984568 |
Sarcoma |
Associate
|
31972596, 32327700, 36232302, 36555836 |
Sarcoma Ewing |
Associate
|
24993903, 28643791, 30895378 |
Sarcoma Small Cell |
Associate
|
34081036 |
Spinal Cord Injuries |
Associate
|
36842142 |
Squamous Cell Carcinoma of Head and Neck |
Associate
|
27035117 |
Status Asthmaticus |
Stimulate
|
33079489 |
Tetralogy of Fallot |
Associate
|
24479926 |
Vascular Malformations |
Associate
|
34081036 |
|