NFATC2
entrez
4773
canonical
uniprot
Q13469
canonical
ensembl
ENSG00000101096
resolver
ensp
ENSP00000360619
resolver
ensp
ENSP00000379330
resolver
ensp
ENSP00000396471
resolver
ensp
ENSP00000477142
resolver
ensp
ENSP00000477342
resolver
ensp
ENSP00000477370
resolver
genesymbol
NFATC2
resolver
genesymbol_syn
NFAT1
resolver
genesymbol_syn
NFATP
resolver
hgnc
HGNC:7776
resolver
uniprot
B5B2N8
resolver
uniprot
B5B2N9
resolver
uniprot
B5B2P0
resolver
uniprot
B5B2P2
resolver
uniprot
B5B2P3
resolver
uniprot
B5B2P4
resolver
uniprot
Q13468
resolver
uniprot
Q5TFW7
resolver
uniprot
Q5TFW8
resolver
uniprot
Q9NPX6
resolver
uniprot
Q9NQH3
resolver
uniprot
Q9UJR2
resolver
uniprot_entry
B5B2P4_HUMAN
resolver
uniprot_entry
NFAC2_HUMAN
resolver
uniprot_sec
B5B2N8
resolver
uniprot_sec
B5B2N9
resolver
uniprot_sec
B5B2P0
resolver
uniprot_sec
B5B2P2
resolver
uniprot_sec
B5B2P3
resolver
uniprot_sec
Q13468
resolver
uniprot_sec
Q5TFW7
resolver
uniprot_sec
Q5TFW8
resolver
uniprot_sec
Q9NPX6
resolver
uniprot_sec
Q9NQH3
resolver
uniprot_sec
Q9UJR2
resolver
amino_acid_sequence
MNAPERQPQPDGGDAPGHEPGGSPQDELDFSILFDYEYLNPNEEEPNAHKVASPPSGPAYPDDVLDYGLKPYSPLASLSGEPPGRFGEPDRVGPQKFLSAAKPAGASGLSPRIEITPSHELIQAVGPLRMRDAGLLVEQPPLAGVAASPRFTLPVPGFEGYREPLCLSPASSGSSASFISDTFSPYTSPCVSPNNGGPDDLCPQFQNIPAHYSPRTSPIMSPRTSLAEDSCLGRHSPVPRPASRSSSPGAKRRHSCAEALVALPPGASPQRSRSPSPQPSSHVAPQDHGSPAGYPPVAGSAVIMDALNSLATDSPCGIPPKMWKTSPDPSPVSAAPSKAGLPRHIYPAVEFLGPCEQGERRNSAPESILLVPPTWPKPLVPAIPICSIPVTASLPPLEWPLSSQSGSYELRIEVQPKPHHRAHYETEGSRGAVKAPTGGHPVVQLHGYMENKPLGLQIFIGTADERILKPHAFYQVHRITGKTVTTTSYEKIVGNTKVLEIPLEPKNNMRATIDCAGILKLRNADIELRKGETDIGRKNTRVRLVFRVHIPESSGRIVSLQTASNPIECSQRSAHELPMVERQDTDSCLVYGGQQMILTGQNFTSESKVVFTEKTTDGQQIWEMEATVDKDKSQPNMLFVEIPEYRNKHIRTPVKVNFYVINGKRKRSQPQHFTYHPVPAIKTEPTDEYDPTLICSPTHGGLGSQPYYPQHPMVAESPSCLVATMAPCQQFRTGLSSPDARYQQQNPAAVLYQRSKSLSPSLLGYQQPALMAAPLSLADAHRSVLVHAGSQGQSSALLHPSPTNQQASPVIHYSPTNQQLRCGSHQEFQHIMYCENFAPGTTRPGPPPVSQGQRLSPGSYPTVIQQQNATSQRAAKNGPPVSDQKEVLPAGVTIKQEQNLDQTYLDDVNEIIRKEFSGPPARNQT
uniprot
proteins
disease_involvement
DISEASE: Joint contractures, osteochondromas, and B-cell lymphoma (JCOSL) [MIM:620232]: An autosomal recessive disorder characterized by musculoskeletal and hematopoietic issues. Affected individuals develop painless fixed joint contractures in early childhood, have osteochondromas, osteopenia, and can develop B-cell lymphomas. {ECO:0000269|PubMed:35789258}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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 or GM-CSF (PubMed:15790681). Promotes invasive migration through the activation of GPC6 expression and WNT5A signaling pathway (PubMed:21871017). Is involved in the negative regulation of chondrogenesis (PubMed:35789258). Recruited by AKAP5 to ORAI1 pore-forming subunit of CRAC channels in Ca(2+) signaling microdomains where store-operated Ca(2+) influx is coupled to calmodulin and calcineurin signaling and activation of NFAT-dependent transcriptional responses. {ECO:0000250|UniProtKB:Q60591, ECO:0000269|PubMed:15790681, ECO:0000269|PubMed:21871017, ECO:0000269|PubMed:35789258}.
uniprot
proteins
mass_dalton
100146
uniprot
proteins
post_translational_modification
PTM: In resting cells, phosphorylated by NFATC-kinase on at least 18 sites in the 99-363 region. Upon cell stimulation, all these sites except Ser-243 are dephosphorylated by calcineurin. Dephosphorylation induces a conformational change that simultaneously exposes an NLS and masks an NES, which results in nuclear localization. Simultaneously, Ser-53 or Ser-56 is phosphorylated; which is required for full transcriptional activity. {ECO:0000250|UniProtKB:Q60591}.; PTM: Ubiquitinated in endothelial cells by RNF213 downstream of the non-canonical Wnt signaling pathway, leading to its degradation by the proteasome. {ECO:0000269|PubMed:26766444}.
uniprot
proteins
pubmed
10089876
uniprot
proteins
pubmed
11780052
uniprot
proteins
pubmed
15144186
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15790681
uniprot
proteins
pubmed
17467953
uniprot
proteins
pubmed
18218901
uniprot
proteins
pubmed
18675896
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21458306
uniprot
proteins
pubmed
21871017
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
26248042
uniprot
proteins
pubmed
26766444
uniprot
proteins
pubmed
35789258
uniprot
proteins
pubmed
8668213
uniprot
proteins
sequence_length
925
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Note=Cytoplasmic for the phosphorylated form and nuclear after activation that is controlled by calcineurin-mediated dephosphorylation. Rapid nuclear exit of NFATC is thought to be one mechanism by which cells distinguish between sustained and transient calcium signals. The subcellular localization of NFATC plays a key role in the regulation of gene transcription.
uniprot
proteins