Human Gene NFAT5 (ENST00000349945.7_9) from GENCODE V47lift37
Description: nuclear factor of activated T cells 5, transcript variant 2 (from RefSeq NM_138713.4)Gencode Transcript: ENST00000349945.7_9Gencode Gene: ENSG00000102908.23_18Transcript (Including UTRs) Position: hg19 chr16:69,599,869-69,738,557 Size: 138,689 Total Exon Count: 15 Strand: +Coding Region Position: hg19 chr16:69,600,205-69,729,274 Size: 129,070 Coding Exon Count: 14
Data last updated at UCSC: 2024-08-22 23:36:26
Sequence and Links to Tools and Databases
Comments and Description Text from UniProtKB
ID: NFAT5_HUMAN DESCRIPTION: RecName: Full=Nuclear factor of activated T-cells 5; Short=NF-AT5; AltName: Full=T-cell transcription factor NFAT5; AltName: Full=Tonicity-responsive enhancer-binding protein; Short=TonE-binding protein; Short=TonEBP;FUNCTION: Plays a role in the inducible expression of genes. Regulates hypertonicity-induced cellular accumulation of osmolytes.SUBUNIT: Homodimer when bound to DNA, completely encircles its DNA target. Does not bind with Fos and Jun transcription factors.SUBCELLULAR LOCATION: Nucleus.TISSUE SPECIFICITY: Highest levels in skeletal muscle, brain, heart and peripheral blood leukocytes. Also expressed in placenta, lung, liver, kidney, pancreas, spleen, thymus, prostate, testis, ovary, small intestine and colon.PTM: Phosphorylated at Thr-135 by CDK5 in response to osmotic stress; this phosphorylation mediates its rapid nuclear localization.SIMILARITY: Contains 1 RHD (Rel-like) domain.SEQUENCE CAUTION: Sequence=BAA74850.2; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=CAB09693.1; Type=Frameshift; Positions=1164;
Primer design for this transcript
MalaCards Disease Associations
Comparative Toxicogenomics Database (CTD)
Common Gene Haplotype Alleles
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RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
Microarray Expression Data
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mRNA Secondary Structure of 3' and 5' UTRs
Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Protein Domain and Structure Information
InterPro Domains: Graphical view of domain structure IPR013783 - Ig-like_foldIPR014756 - Ig_E-setIPR002909 - IPT_TIG_rcptIPR008366 - NFATIPR015646 - NFAT5IPR008967 - p53-like_TF_DNA-bdIPR011539 - RHDPfam Domains: PF00554 - Rel homology DNA-binding domainPF16179 - Rel homology dimerisation domainSCOP Domains: 81296 - E set domains49417 - p53-like transcription factorsProtein Data Bank (PDB) 3-D Structure ModBase Predicted Comparative 3D Structure on O94916 The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA bindingGO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA bindingGO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific bindingGO:0003677 DNA bindingGO:0003700 transcription factor activity, sequence-specific DNA bindingGO:0005515 protein bindingBiological Process: GO:0001816 cytokine productionGO:0006351 transcription, DNA-templatedGO:0006355 regulation of transcription, DNA-templatedGO:0006366 transcription from RNA polymerase II promoterGO:0007165 signal transductionGO:0007588 excretionGO:0010628 positive regulation of gene expressionGO:0045944 positive regulation of transcription from RNA polymerase II promoterGO:0070884 regulation of calcineurin-NFAT signaling cascadeCellular Component: GO:0005634 nucleusGO:0005654 nucleoplasmGO:0005737 cytoplasmGO:0005829 cytosol
Descriptions from all associated GenBank mRNAs
AF346509 - Homo sapiens nuclear factor of activated T-cells (NFAT5) mRNA, complete cds.LF384449 - JP 2014500723-A/191952: Polycomb-Associated Non-Coding RNAs.AB020634 - Homo sapiens KIAA0827 mRNA for KIAA0827 protein.BC146765 - Homo sapiens nuclear factor of activated T-cells 5, tonicity-responsive, mRNA (cDNA clone MGC:166838 IMAGE:9007208), complete cds.AF089824 - Homo sapiens tonicity-responsive enhancer-binding protein mRNA, complete cds.BC131509 - Homo sapiens nuclear factor of activated T-cells 5, tonicity-responsive, mRNA (cDNA clone MGC:138853 IMAGE:40083218), complete cds.AJ243298 - Homo sapiens NFAT5/TonEBP gene, brain isoform 1.AJ243299 - Homo sapiens NFAT5/TonEBP gene, brain isoform 2.AJ005684 - Homo sapiens mRNA for repeated sequence CAG-8-man-gr.U80231 - Human glutamine rich protein H65 mRNA, partial cds.AK000312 - Homo sapiens cDNA FLJ20305 fis, clone HEP06818, highly similar to AF089824 Homo sapiens tonicity-responsive enhancer-binding protein.MA620026 - JP 2018138019-A/191952: Polycomb-Associated Non-Coding RNAs.BC089395 - Homo sapiens nuclear factor of activated T-cells 5, tonicity-responsive, mRNA (cDNA clone IMAGE:3075611), with apparent retained intron.JD133649 - Sequence 114673 from Patent EP1572962.JD101218 - Sequence 82242 from Patent EP1572962.AB384002 - Synthetic construct DNA, clone: pF1KSDA0827, Homo sapiens NFAT5 gene for nuclear factor of activated T-cells 5, complete cds, without stop codon, in Flexi system.JD192462 - Sequence 173486 from Patent EP1572962.AJ005683 - Homo sapiens mRNA for repeated sequence CAG-8-man-kl.JD122482 - Sequence 103506 from Patent EP1572962.AF163836 - Homo sapiens transcription factor NFAT5 isoform b (NFAT5) mRNA, complete cds.JD361525 - Sequence 342549 from Patent EP1572962.JD162942 - Sequence 143966 from Patent EP1572962.AF134870 - Homo sapiens transcription factor NFAT5 mRNA, complete cds.LF374408 - JP 2014500723-A/181911: Polycomb-Associated Non-Coding RNAs.LF374409 - JP 2014500723-A/181912: Polycomb-Associated Non-Coding RNAs.LF374410 - JP 2014500723-A/181913: Polycomb-Associated Non-Coding RNAs.LF374411 - JP 2014500723-A/181914: Polycomb-Associated Non-Coding RNAs.LF374415 - JP 2014500723-A/181918: Polycomb-Associated Non-Coding RNAs.LF374416 - JP 2014500723-A/181919: Polycomb-Associated Non-Coding RNAs.LF374417 - JP 2014500723-A/181920: Polycomb-Associated Non-Coding RNAs.LF374418 - JP 2014500723-A/181921: Polycomb-Associated Non-Coding RNAs.LF374422 - JP 2014500723-A/181925: Polycomb-Associated Non-Coding RNAs.LF374425 - JP 2014500723-A/181928: Polycomb-Associated Non-Coding RNAs.LF374426 - JP 2014500723-A/181929: Polycomb-Associated Non-Coding RNAs.Z97016 - Homo sapiens mRNA for hypothetical protein (clone CAG-8).LF374427 - JP 2014500723-A/181930: Polycomb-Associated Non-Coding RNAs.LF374428 - JP 2014500723-A/181931: Polycomb-Associated Non-Coding RNAs.LF374429 - JP 2014500723-A/181932: Polycomb-Associated Non-Coding RNAs.LF374430 - JP 2014500723-A/181933: Polycomb-Associated Non-Coding RNAs.LF374431 - JP 2014500723-A/181934: Polycomb-Associated Non-Coding RNAs.LF374432 - JP 2014500723-A/181935: Polycomb-Associated Non-Coding RNAs.X85324 - H.sapiens mRNA for non polymorphic CAG repeat (CAG12).LF374433 - JP 2014500723-A/181936: Polycomb-Associated Non-Coding RNAs.LF374434 - JP 2014500723-A/181937: Polycomb-Associated Non-Coding RNAs.LF374435 - JP 2014500723-A/181938: Polycomb-Associated Non-Coding RNAs.JD357830 - Sequence 338854 from Patent EP1572962.MA609985 - JP 2018138019-A/181911: Polycomb-Associated Non-Coding RNAs.MA609986 - JP 2018138019-A/181912: Polycomb-Associated Non-Coding RNAs.MA609987 - JP 2018138019-A/181913: Polycomb-Associated Non-Coding RNAs.MA609988 - JP 2018138019-A/181914: Polycomb-Associated Non-Coding RNAs.MA609992 - JP 2018138019-A/181918: Polycomb-Associated Non-Coding RNAs.MA609993 - JP 2018138019-A/181919: Polycomb-Associated Non-Coding RNAs.MA609994 - JP 2018138019-A/181920: Polycomb-Associated Non-Coding RNAs.MA609995 - JP 2018138019-A/181921: Polycomb-Associated Non-Coding RNAs.MA609999 - JP 2018138019-A/181925: Polycomb-Associated Non-Coding RNAs.MA610002 - JP 2018138019-A/181928: Polycomb-Associated Non-Coding RNAs.MA610003 - JP 2018138019-A/181929: Polycomb-Associated Non-Coding RNAs.MA610004 - JP 2018138019-A/181930: Polycomb-Associated Non-Coding RNAs.MA610005 - JP 2018138019-A/181931: Polycomb-Associated Non-Coding RNAs.MA610006 - JP 2018138019-A/181932: Polycomb-Associated Non-Coding RNAs.MA610007 - JP 2018138019-A/181933: Polycomb-Associated Non-Coding RNAs.MA610008 - JP 2018138019-A/181934: Polycomb-Associated Non-Coding RNAs.MA610009 - JP 2018138019-A/181935: Polycomb-Associated Non-Coding RNAs.MA610010 - JP 2018138019-A/181936: Polycomb-Associated Non-Coding RNAs.MA610011 - JP 2018138019-A/181937: Polycomb-Associated Non-Coding RNAs.MA610012 - JP 2018138019-A/181938: Polycomb-Associated Non-Coding RNAs.LF374437 - JP 2014500723-A/181940: Polycomb-Associated Non-Coding RNAs.JD116798 - Sequence 97822 from Patent EP1572962.JD300478 - Sequence 281502 from Patent EP1572962.JD093308 - Sequence 74332 from Patent EP1572962.LF374438 - JP 2014500723-A/181941: Polycomb-Associated Non-Coding RNAs.LF374439 - JP 2014500723-A/181942: Polycomb-Associated Non-Coding RNAs.JD300441 - Sequence 281465 from Patent EP1572962.JD087537 - Sequence 68561 from Patent EP1572962.JD087538 - Sequence 68562 from Patent EP1572962.JD082483 - Sequence 63507 from Patent EP1572962.JD251974 - Sequence 232998 from Patent EP1572962.JD360190 - Sequence 341214 from Patent EP1572962.JD509338 - Sequence 490362 from Patent EP1572962.JD273523 - Sequence 254547 from Patent EP1572962.JD058855 - Sequence 39879 from Patent EP1572962.JD289952 - Sequence 270976 from Patent EP1572962.JD148497 - Sequence 129521 from Patent EP1572962.JD551279 - Sequence 532303 from Patent EP1572962.JD132185 - Sequence 113209 from Patent EP1572962.JD365808 - Sequence 346832 from Patent EP1572962.JD403915 - Sequence 384939 from Patent EP1572962.JD240498 - Sequence 221522 from Patent EP1572962.JD236411 - Sequence 217435 from Patent EP1572962.JD297149 - Sequence 278173 from Patent EP1572962.JD297007 - Sequence 278031 from Patent EP1572962.JD287588 - Sequence 268612 from Patent EP1572962.JD281570 - Sequence 262594 from Patent EP1572962.JD557130 - Sequence 538154 from Patent EP1572962.JD048570 - Sequence 29594 from Patent EP1572962.JD087933 - Sequence 68957 from Patent EP1572962.JD549703 - Sequence 530727 from Patent EP1572962.JD429325 - Sequence 410349 from Patent EP1572962.LF374440 - JP 2014500723-A/181943: Polycomb-Associated Non-Coding RNAs.JD188935 - Sequence 169959 from Patent EP1572962.JD460475 - Sequence 441499 from Patent EP1572962.LF374441 - JP 2014500723-A/181944: Polycomb-Associated Non-Coding RNAs.JD357016 - Sequence 338040 from Patent EP1572962.JD199200 - Sequence 180224 from Patent EP1572962.JD490119 - Sequence 471143 from Patent EP1572962.LF374442 - JP 2014500723-A/181945: Polycomb-Associated Non-Coding RNAs.JD110738 - Sequence 91762 from Patent EP1572962.JD334658 - Sequence 315682 from Patent EP1572962.JD491436 - Sequence 472460 from Patent EP1572962.JD339188 - Sequence 320212 from Patent EP1572962.JD549150 - Sequence 530174 from Patent EP1572962.JD204309 - Sequence 185333 from Patent EP1572962.JD416606 - Sequence 397630 from Patent EP1572962.JD127262 - Sequence 108286 from Patent EP1572962.LF374443 - JP 2014500723-A/181946: Polycomb-Associated Non-Coding RNAs.JD398157 - Sequence 379181 from Patent EP1572962.JD402847 - Sequence 383871 from Patent EP1572962.JD555154 - Sequence 536178 from Patent EP1572962.JD389488 - Sequence 370512 from Patent EP1572962.JD389489 - Sequence 370513 from Patent EP1572962.JD127127 - Sequence 108151 from Patent EP1572962.JD416637 - Sequence 397661 from Patent EP1572962.JD402572 - Sequence 383596 from Patent EP1572962.JD229895 - Sequence 210919 from Patent EP1572962.JD298851 - Sequence 279875 from Patent EP1572962.JD234892 - Sequence 215916 from Patent EP1572962.JD082454 - Sequence 63478 from Patent EP1572962.JD305732 - Sequence 286756 from Patent EP1572962.JD357004 - Sequence 338028 from Patent EP1572962.JD306601 - Sequence 287625 from Patent EP1572962.JD043186 - Sequence 24210 from Patent EP1572962.JD411112 - Sequence 392136 from Patent EP1572962.JD531681 - Sequence 512705 from Patent EP1572962.JD355279 - Sequence 336303 from Patent EP1572962.JD198530 - Sequence 179554 from Patent EP1572962.JD153405 - Sequence 134429 from Patent EP1572962.JD069855 - Sequence 50879 from Patent EP1572962.JD397204 - Sequence 378228 from Patent EP1572962.JD121097 - Sequence 102121 from Patent EP1572962.JD381294 - Sequence 362318 from Patent EP1572962.JD334774 - Sequence 315798 from Patent EP1572962.JD318050 - Sequence 299074 from Patent EP1572962.JD108128 - Sequence 89152 from Patent EP1572962.JD342495 - Sequence 323519 from Patent EP1572962.JD435386 - Sequence 416410 from Patent EP1572962.JD308084 - Sequence 289108 from Patent EP1572962.JD505245 - Sequence 486269 from Patent EP1572962.JD475696 - Sequence 456720 from Patent EP1572962.JD299621 - Sequence 280645 from Patent EP1572962.JD036373 - Sequence 17397 from Patent EP1572962.JD039597 - Sequence 20621 from Patent EP1572962.JD167587 - Sequence 148611 from Patent EP1572962.JD494403 - Sequence 475427 from Patent EP1572962.JD248380 - Sequence 229404 from Patent EP1572962.JD348318 - Sequence 329342 from Patent EP1572962.LF374444 - JP 2014500723-A/181947: Polycomb-Associated Non-Coding RNAs.LF374445 - JP 2014500723-A/181948: Polycomb-Associated Non-Coding RNAs.LF374446 - JP 2014500723-A/181949: Polycomb-Associated Non-Coding RNAs.JD369084 - Sequence 350108 from Patent EP1572962.JD083998 - Sequence 65022 from Patent EP1572962.JD422148 - Sequence 403172 from Patent EP1572962.JD504113 - Sequence 485137 from Patent EP1572962.AK001067 - Homo sapiens cDNA FLJ10205 fis, clone HEMBA1004954.JD280124 - Sequence 261148 from Patent EP1572962.JD293763 - Sequence 274787 from Patent EP1572962.JD316010 - Sequence 297034 from Patent EP1572962.JD420907 - Sequence 401931 from Patent EP1572962.JD225928 - Sequence 206952 from Patent EP1572962.JD509523 - Sequence 490547 from Patent EP1572962.JD349138 - Sequence 330162 from Patent EP1572962.JD351383 - Sequence 332407 from Patent EP1572962.JD359026 - Sequence 340050 from Patent EP1572962.JD085225 - Sequence 66249 from Patent EP1572962.LF374447 - JP 2014500723-A/181950: Polycomb-Associated Non-Coding RNAs.JD239136 - Sequence 220160 from Patent EP1572962.JD561267 - Sequence 542291 from Patent EP1572962.JD553511 - Sequence 534535 from Patent EP1572962.JD245272 - Sequence 226296 from Patent EP1572962.JD400305 - Sequence 381329 from Patent EP1572962.JD127131 - Sequence 108155 from Patent EP1572962.JD392103 - Sequence 373127 from Patent EP1572962.JD525504 - Sequence 506528 from Patent EP1572962.JD391304 - Sequence 372328 from Patent EP1572962.LF374448 - JP 2014500723-A/181951: Polycomb-Associated Non-Coding RNAs.JD450934 - Sequence 431958 from Patent EP1572962.JD316226 - Sequence 297250 from Patent EP1572962.LF374449 - JP 2014500723-A/181952: Polycomb-Associated Non-Coding RNAs.JD246187 - Sequence 227211 from Patent EP1572962.JD318852 - Sequence 299876 from Patent EP1572962.JD297206 - Sequence 278230 from Patent EP1572962.LF374450 - JP 2014500723-A/181953: Polycomb-Associated Non-Coding RNAs.MA610014 - JP 2018138019-A/181940: Polycomb-Associated Non-Coding RNAs.MA610015 - JP 2018138019-A/181941: Polycomb-Associated Non-Coding RNAs.MA610016 - JP 2018138019-A/181942: Polycomb-Associated Non-Coding RNAs.MA610017 - JP 2018138019-A/181943: Polycomb-Associated Non-Coding RNAs.MA610018 - JP 2018138019-A/181944: Polycomb-Associated Non-Coding RNAs.MA610019 - JP 2018138019-A/181945: Polycomb-Associated Non-Coding RNAs.MA610020 - JP 2018138019-A/181946: Polycomb-Associated Non-Coding RNAs.MA610021 - JP 2018138019-A/181947: Polycomb-Associated Non-Coding RNAs.MA610022 - JP 2018138019-A/181948: Polycomb-Associated Non-Coding RNAs.MA610023 - JP 2018138019-A/181949: Polycomb-Associated Non-Coding RNAs.MA610024 - JP 2018138019-A/181950: Polycomb-Associated Non-Coding RNAs.MA610025 - JP 2018138019-A/181951: Polycomb-Associated Non-Coding RNAs.MA610026 - JP 2018138019-A/181952: Polycomb-Associated Non-Coding RNAs.MA610027 - JP 2018138019-A/181953: Polycomb-Associated Non-Coding RNAs.
Other Names for This Gene
Alternate Gene Symbols: A2RRB4, A6H8V5, E9PHR7, ENST00000349945.1, ENST00000349945.2, ENST00000349945.3, ENST00000349945.4, ENST00000349945.5, ENST00000349945.6, KIAA0827 , NFAT5 , NFAT5_HUMAN, NM_138713, O94916, O95693, Q7LA65, Q969Q8, Q96QH3, Q9UN18, TONEBP , uc317xxj.1, uc317xxj.2UCSC ID: ENST00000349945.7_9RefSeq Accession: NM_138713.4 Protein: O94916
(aka NFAT5_HUMAN)
Gene Model Information
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Methods, Credits, and Use Restrictions
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for details on how this gene model was made and data restrictions if any.
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
