Gene Gene information from NCBI Gene database.
Entrez ID 10725
Gene name Nuclear factor of activated T cells 5
Gene symbol NFAT5
Synonyms (NCBI Gene)
NF-AT5NFATL1NFATZOREBPTONEBP
Chromosome 16
Chromosome location 16q22.1
Summary The product of this gene is a member of the nuclear factors of activated T cells family of transcription factors. Proteins belonging to this family play a central role in inducible gene transcription during the immune response. This protein regulates gene
miRNA miRNA information provided by mirtarbase database.
1823
miRTarBase ID miRNA Experiments Reference
MIRT005398 hsa-miR-24-3p qRT-PCR 19296935
MIRT004971 hsa-miR-31-5p Luciferase reporter assayqRT-PCR 19524507
MIRT018093 hsa-miR-335-5p Microarray 18185580
MIRT005398 hsa-miR-24-3p Microarray 19748357
MIRT030927 hsa-miR-21-5p Microarray 18591254
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
SOX17 Repression 24407731
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
42
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin ISA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA 11485737, 11780147
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IEA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604708 7774 ENSG00000102908
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O94916
Protein name Nuclear factor of activated T-cells 5 (NF-AT5) (T-cell transcription factor NFAT5) (Tonicity-responsive enhancer-binding protein) (TonE-binding protein) (TonEBP)
Protein function Transcription factor involved, among others, in the transcriptional regulation of osmoprotective and inflammatory genes. Binds the DNA consensus sequence 5'-[ACT][AG]TGGAAA[CAT]A[TA][ATC][CA][ATG][GT][GAC][CG][CT]-3' (PubMed:10377394). Mediates
PDB 1IMH
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00554 RHD_DNA_bind 282 439 Rel homology DNA-binding domain Domain
PF16179 RHD_dimer 446 545 Rel homology dimerisation domain Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed, with highest levels in skeletal muscle, brain, heart and peripheral blood leukocytes. {ECO:0000269|PubMed:10051678, ECO:0000269|PubMed:10377394}.
Sequence
MPSDFISLLSADLDLESPKSLYSRESVYDLLPKELQLPPSRETSVASMSQTSGGEAGSPP
PAVVAADASSAPSSSSMGGACSSFTTSSSPTIYSTSVTDSKAMQVESCSSAVGVSNRGVS
EKQLTSNTVQQHPSTPKRHTVLYISPPPEDLLDNSRMSCQDEGCGLESEQSCSMWMEDSP
SNFSNMSTSSYNDNTEVPRKSRKRNPKQRPGVKRRDCEESNMDIFDADSAKAPHYVLSQL
TTDNKGNSKAGNGTLENQKGTGVKKSPMLCGQYPVKSEGKELKIVVQPETQHRARYLTEG
SRGSVKDRTQQGFPTVKLEGHNEPVVLQVFVGNDSGRVKPHGFYQACRVTGRNTTPCKEV
DIEGTTVIEVGLDPSNNMTLAVDCVGILKLRNADVEARIGIAGSKKKSTRARLVFRVNIM
RKDGSTLTLQTPSSPILCT
QPAGVPEILKKSLHSCSVKGEEEVFLIGKNFLKGTKVIFQE
NVSDENSWKSEAEIDMELFHQNHLIVKVPPYHDQHITLPVSVGIYVVTNAGRSHDVQPFT
YTPDP
AAAGALNVNVKKEISSPARPCSFEEAMKAMKTTGCNLDKVNIIPNALMTPLIPSS
MIKSEDVTPMEVTAEKRSSTIFKTTKSVGSTQQTLENISNIAGNGSFSSPSSSHLPSENE
KQQQIQPKAYNPETLTTIQTQDISQPGTFPAVSASSQLPNSDALLQQATQFQTRETQSRE
ILQSDGTVVNLSQLTEASQQQQQSPLQEQAQTLQQQISSNIFPSPNSVSQLQNTIQQLQA
GSFTGSTASGSSGSVDLVQQVLEAQQQLSSVLFSAPDGNENVQEQLSADIFQQVSQIQSG
VSPGMFSSTEPTVHTRPDNLLPGRAESVHPQSENTLSNQQQQQQQQQQVMESSAAMVMEM
QQSICQAAAQIQSELFPSTASANGNLQQSPVYQQTSHMMSALSTNEDMQMQCELFSSPPA
VSGNETSTTTTQQVATPGTTMFQTSSSGDGEETGTQAKQIQNSVFQTMVQMQHSGDNQPQ
VNLFSSTKSMMSVQNSGTQQQGNGLFQQGNEMMSLQSGNFLQQSSHSQAQLFHPQNPIAD
AQNLSQETQGSLFHSPNPIVHSQTSTTSSEQMQPPMFHSQSTIAVLQGSSVPQDQQSTNI
FLSQSPMNNLQTNTVAQEAFFAAPNSISPLQSTSNSEQQAAFQQQAPISHIQTPMLSQEQ
AQPPQQGLFQPQVALGSLPPNPMPQSQQGTMFQSQHSIVAMQSNSPSQEQQQQQQQQQQQ
QQQQQQSILFSNQNTMATMASPKQPPPNMIFNPNQNPMANQEQQNQSIFHQQSNMAPMNQ
EQQPMQFQSQSTVSSLQNPGPTQSESSQTPLFHSSPQIQLVQGSPSSQEQQVTLFLSPAS
MSALQTSINQQDMQQSPLYSPQNNMPGIQGATSSPQPQATLFHNTAGGTMNQLQNSPGSS
QQTSGMFLFGIQNNCSQLLTSGPATLPDQLMAISQPGQPQNEGQPPVTTLLSQQMPENSP
LASSINTNQNIEKIDLLVSLQNQGNNLTGSF
Sequence length 1531
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
663
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Familial cancer of breast Conflicting classifications of pathogenicity rs148886916 RCV005901245
Glioma susceptibility 1 Benign rs746550082 RCV005870040
Immunodeficiency Uncertain significance; Conflicting classifications of pathogenicity; Likely benign; Benign rs747303047, rs2035750914, rs747215016, rs771199145, rs753691324, rs757333746, rs779806445, rs749509432, rs776590259, rs546177959, rs2037673824, rs151172191, rs1042925684, rs200580359, rs1005932189
View all (577 more)
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RCV001506246
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RCV001499350
RCV001487867
RCV001496789
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RCV001513246
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RCV001989600
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RCV001887336
RCV001990380
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RCV001988345
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RCV001953288
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RCV001995246
RCV002033922
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RCV001910431
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RCV001999375
RCV001902014
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RCV001912537
RCV002011112
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RCV001965661
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RCV002027457
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RCV001937986
RCV001916963
RCV001926570
RCV001994899
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RCV001933708
RCV001933777
RCV001995750
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RCV001957929
RCV002016400
RCV002005637
RCV002020738
RCV002029970
RCV001939708
RCV001998934
RCV002044276
RCV002048751
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RCV001991526
RCV001911454
RCV001896812
RCV001946012
RCV002025346
RCV002014181
RCV001971879
RCV002051213
RCV001931881
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RCV001889775
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RCV001886095
RCV001886096
RCV002047137
RCV001962476
RCV001980646
RCV002001897
RCV001969414
RCV002015791
RCV001988453
RCV001924485
RCV001916321
RCV001983505
RCV002027181
RCV001981129
RCV002038419
RCV002196870
RCV002085179
RCV002199440
RCV002174853
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RCV002072602
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RCV002130277
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RCV002220896
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RCV002100461
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RCV002200268
RCV002163175
RCV002129245
RCV002180185
RCV002101226
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RCV002134368
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RCV002180650
RCV002104585
RCV002118756
RCV002136620
RCV002196344
RCV002209046
RCV002195481
RCV002124994
RCV002133154
RCV002154436
RCV002166580
RCV002210516
RCV002111992
RCV002193567
RCV002185292
RCV002164365
RCV002100700
RCV002154797
RCV002196034
RCV002185934
RCV002078137
RCV002199679
RCV002090715
RCV002190940
RCV002212525
RCV002115202
RCV002179860
RCV002163520
RCV002154474
RCV002092484
RCV002299006
RCV002304307
RCV002296503
RCV002301884
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RCV002299914
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RCV002299213
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RCV003071030
RCV003074582
RCV003067253
RCV003065436
RCV003070775
RCV003065374
RCV003037357
RCV003076286
RCV003091168
RCV003067748
RCV003067772
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RCV003093642
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RCV002578017
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RCV002571113
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RCV002630702
RCV002614284
RCV002626979
RCV002675705
RCV002663351
RCV002685772
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RCV002658678
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RCV002686315
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RCV002690311
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RCV002776239
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RCV002781296
RCV002795844
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RCV002819245
RCV002810158
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RCV002846975
RCV002834525
RCV002852544
RCV002880911
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RCV002866590
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RCV002876800
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RCV002966996
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RCV002985579
RCV002999185
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RCV003021956
RCV003028114
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RCV003044651
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RCV003754999
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RCV003592649
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RCV003592631
RCV003593115
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RCV003592990
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RCV003755112
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RCV003755103
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RCV003755242
RCV003755255
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RCV003755391
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RCV003755500
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RCV003755683
RCV003755720
RCV003755816
RCV003755813
RCV003755851
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RCV003755798
RCV003755800
RCV003755983
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RCV003755979
RCV003756005
RCV003756044
RCV003756069
RCV003756084
RCV003756106
RCV003756110
RCV003756045
RCV003756073
RCV003756097
RCV003756104
RCV003756124
RCV003756260
RCV003756234
RCV003756225
RCV003756303
RCV003756159
RCV003756399
RCV003756387
RCV003756356
RCV003756533
RCV003756613
RCV003756554
RCV003811088
RCV003815044
RCV003829653
RCV003837383
RCV003827190
RCV003837945
RCV003835420
RCV003833009
RCV003839679
RCV003847870
RCV003841982
RCV003842217
RCV003842228
RCV003842328
RCV003842335
RCV003850126
RCV003856189
RCV003846954
RCV003845168
RCV003861701
RCV003854679
RCV003866902
RCV003851539
RCV003869753
RCV003877942
RCV003874580
RCV003871306
RCV003879826
RCV003877407
RCV005104791
RCV000559134
RCV000536659
RCV000547932
RCV000525428
RCV000544454
RCV000526473
RCV002527676
RCV000537714
RCV000631396
RCV000631400
RCV000631397
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RCV000631390
RCV000631399
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RCV001509636
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RCV000631394
RCV000631391
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RCV000691394
RCV000706878
RCV000686134
RCV000702456
RCV000689253
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RCV000706780
RCV000685912
RCV000700505
RCV000819961
RCV000795271
RCV000820550
RCV000811401
RCV000805402
RCV000823526
RCV000793222
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RCV000815343
RCV000796305
RCV000812832
RCV000804393
RCV000797786
RCV000813637
RCV000792360
RCV000816150
RCV000823560
RCV000811881
RCV000800362
RCV000794941
RCV000822573
RCV000793942
RCV000807707
RCV000813040
RCV000800426
RCV000803959
RCV000797665
RCV000805557
RCV000819030
RCV000971950
RCV000892228
RCV000879829
RCV000892302
RCV000904610
RCV000907233
RCV000902261
RCV001404620
RCV000902909
RCV000924446
RCV000916162
RCV001471983
RCV001431889
RCV001425655
RCV001440421
RCV001502763
RCV000918996
RCV001446642
RCV000941515
RCV000937752
RCV001472884
RCV001423400
RCV001440459
RCV001440460
RCV001040627
RCV001045215
RCV001045270
RCV001071928
RCV001061937
RCV001042560
RCV001037830
RCV001049915
RCV001061382
RCV001062228
RCV001034921
RCV001047091
RCV001062494
RCV001041359
RCV001058115
RCV001066518
RCV001049527
RCV001046706
RCV001067725
RCV001059644
RCV001045703
RCV001069964
RCV001221875
RCV001216637
RCV001217009
RCV001217565
RCV001217786
RCV001217644
RCV001220782
RCV001209748
RCV001210658
RCV001210682
RCV001206399
RCV001230916
RCV001225787
RCV001227210
RCV001230675
RCV001234129
RCV001241804
RCV001295284
RCV001295056
RCV001308720
RCV001303674
RCV001300147
RCV001295761
RCV001299655
RCV001303627
RCV001296174
RCV001302147
RCV001301269
RCV001297236
Immunodeficiency and Autoimmune Enterocolopathy Uncertain significance rs747215016 RCV002265980
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acquired Immunodeficiency Syndrome Associate 17173480
Adenocarcinoma of Lung Associate 34257525
Alzheimer Disease Associate 33213512
Arthritis Associate 21717420
Arthritis Rheumatoid Associate 12223111, 21717420, 30184542
Asthma Associate 35417913
Behcet Syndrome Associate 26890122
Breast Neoplasms Associate 32802855
Carcinoma Hepatocellular Associate 29052520
Carcinoma Non Small Cell Lung Associate 30900402, 34257525, 37439026