NFATC2 (nuclear factor of activated T cells 2)
|
Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
4773 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
Nuclear factor of activated T cells 2 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
NFATC2 |
SynonymsGene synonyms aliases
|
JCOSL, NFAT1, NFATP |
ChromosomeChromosome number
|
20 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
20q13.2 |
SummarySummary of gene provided in NCBI Entrez Gene.
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This gene is a member of the nuclear factor of activated T cells (NFAT) family. The product of this gene is a DNA-binding protein with a REL-homology region (RHR) and an NFAT-homology region (NHR). This protein is present in the cytosol and only transloca |
miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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GO ID |
Ontology |
Definition |
Evidence |
Reference |
GO:0000122 |
Process |
Negative regulation of transcription by RNA polymerase II |
IEA |
|
GO:0000785 |
Component |
Chromatin |
ISA |
|
GO:0000978 |
Function |
RNA polymerase II cis-regulatory region sequence-specific DNA binding |
IBA |
21873635 |
GO:0000981 |
Function |
DNA-binding transcription factor activity, RNA polymerase II-specific |
IBA |
21873635 |
GO:0000981 |
Function |
DNA-binding transcription factor activity, RNA polymerase II-specific |
ISA |
|
GO:0001227 |
Function |
DNA-binding transcription repressor activity, RNA polymerase II-specific |
IEA |
|
GO:0001228 |
Function |
DNA-binding transcription activator activity, RNA polymerase II-specific |
IEA |
|
GO:0001816 |
Process |
Cytokine production |
IBA |
21873635 |
GO:0003677 |
Function |
DNA binding |
TAS |
8668213 |
GO:0003682 |
Function |
Chromatin binding |
IEA |
|
GO:0003700 |
Function |
DNA-binding transcription factor activity |
TAS |
8668213 |
GO:0005515 |
Function |
Protein binding |
IPI |
16873067, 17377532, 18218901, 19505873, 21458306, 21983832, 23105117, 24561192, 24954618, 25609649 |
GO:0005634 |
Component |
Nucleus |
IDA |
12370307, 12656674 |
GO:0005634 |
Component |
Nucleus |
TAS |
8668213 |
GO:0005654 |
Component |
Nucleoplasm |
IDA |
|
GO:0005654 |
Component |
Nucleoplasm |
TAS |
|
GO:0005667 |
Component |
Transcription regulator complex |
IBA |
21873635 |
GO:0005737 |
Component |
Cytoplasm |
IDA |
12656674 |
GO:0005737 |
Component |
Cytoplasm |
TAS |
8668213 |
GO:0005829 |
Component |
Cytosol |
IDA |
|
GO:0005829 |
Component |
Cytosol |
TAS |
|
GO:0006355 |
Process |
Regulation of transcription, DNA-templated |
TAS |
8668213 |
GO:0006357 |
Process |
Regulation of transcription by RNA polymerase II |
IBA |
21873635 |
GO:0006974 |
Process |
Cellular response to DNA damage stimulus |
IMP |
17875758 |
GO:0008134 |
Function |
Transcription factor binding |
IBA |
21873635 |
GO:0014904 |
Process |
Myotube cell development |
IEA |
|
GO:0016477 |
Process |
Cell migration |
IDA |
21871017 |
GO:0019902 |
Function |
Phosphatase binding |
IPI |
26248042 |
GO:0030890 |
Process |
Positive regulation of B cell proliferation |
IMP |
17875758 |
GO:0033173 |
Process |
Calcineurin-NFAT signaling cascade |
IBA |
21873635 |
GO:0038095 |
Process |
Fc-epsilon receptor signaling pathway |
TAS |
|
GO:0042493 |
Process |
Response to drug |
IMP |
17875758 |
GO:0045589 |
Process |
Regulation of regulatory T cell differentiation |
TAS |
|
GO:0045893 |
Process |
Positive regulation of transcription, DNA-templated |
IDA |
15790681 |
GO:0045944 |
Process |
Positive regulation of transcription by RNA polymerase II |
IEA |
|
GO:0050853 |
Process |
B cell receptor signaling pathway |
IMP |
17875758 |
GO:1901741 |
Process |
Positive regulation of myoblast fusion |
IEA |
|
GO:1905064 |
Process |
Negative regulation of vascular associated smooth muscle cell differentiation |
IDA |
23853098 |
GO:1990837 |
Function |
Sequence-specific double-stranded DNA binding |
IDA |
28473536 |
GO:1990904 |
Component |
Ribonucleoprotein complex |
IEA |
|
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
|
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 |
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Sequence |
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Sequence length |
925 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
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Associated diseases
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Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Diabetes mellitus |
Diabetes Mellitus, Non-Insulin-Dependent |
rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs4402960, rs1362648752, rs3745368, rs3792267, rs3842570, rs5030952, rs2975760, rs119489103, rs7903146, rs12255372, rs11196205, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs137852740, rs137852786, 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, rs80356663, 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, rs80356666, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs387906779, rs141804752, rs182349376, rs184917682, 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, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs61736969, rs587783673, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs797045623, 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, rs1553638903, rs1553638909, rs948820149, rs371977235, rs1553784995, rs76474829, rs200998587, 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, rs776793516, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261 |
30718926 |
Hypertension |
Hypertensive disease |
rs13306026, rs13333226 |
30487518 |
Leukemia |
Leukemia, Myelocytic, Acute |
rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297, rs11978267, rs4132601 |
27903959 |
Lymphoblastic leukemia |
Precursor Cell Lymphoblastic Leukemia Lymphoma |
rs387906351, rs104894562, rs398122513, rs398122840, rs398123063, rs1057524466, rs1064796115, rs1064795660, rs1064793129, rs1064796227, rs1567887558, rs1161194345, rs1597558200, rs1406320425, rs1597566470, rs1597566699, rs1597567692, rs1597567985, rs1438890364, rs1288977950, rs1597552140, rs1597566356, rs1597566726, rs1597568117, rs2069719445, rs2069729948, rs2070018439, rs745708044, rs1169577591 |
25987655 |
Schizophrenia |
Schizophrenia |
rs74315508, rs74315509, rs13447324, rs1558507406, 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 |
28924203, 21926974 |
|
Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Allergic rhinitis |
Allergic rhinitis (disorder) |
|
30013184 |
Cardiovascular diseases |
Cardiovascular Diseases |
|
30595370 |
Eczema |
Eczema |
|
30595370 |
Nervous system disorder |
nervous system disorder |
|
21245421 |
Vulval varices |
Varicosity |
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30566020, 30998689 |
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