Human Gene NFAT5 (uc002exl.2)
Description: Homo sapiens nuclear factor of activated T-cells 5, tonicity-responsive (NFAT5), transcript variant 2, mRNA.
RefSeq Summary (NM_138713): 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 expression induced by osmotic stress in mammalian cells. Unlike monomeric members of this protein family, this protein exists as a homodimer and forms stable dimers with DNA elements. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].
Transcript (Including UTRs)
Position: hg19 chr16:69,599,869-69,738,569 Size: 138,701 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: 2013-06-14
Sequence and Links to Tools and Databases
Comments and Description Text from UniProtKB
ID: E9PHR7_HUMAN
DESCRIPTION: SubName: Full=Nuclear factor of-activated T-cells 5;
SIMILARITY: Contains 1 RHD (Rel-like) domain.CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.
Primer design for this transcript
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): NFAT5
CDC HuGE Published Literature: NFAT5
Positive Disease Associations: Alcohol Drinking
Related Studies: Alcohol Drinking , , .
[PubMed 0 ]
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
The RNAfold program from the 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_fold
IPR014756 - Ig_E-set
IPR002909 - IPT_TIG_rcpt
IPR008366 - NFAT
IPR015646 - NFAT5
IPR008967 - p53-like_TF_DNA-bd
IPR011539 - RHD
Pfam Domains: PF00554 - Rel homology DNA-binding domain
PF16179 - Rel homology dimerisation domain
SCOP Domains: 81296 - E set domains
49417 - p53-like transcription factors
ModBase Predicted Comparative 3D Structure on E9PHR7
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.
Mouse Rat Zebrafish D. melanogaster C. elegans S. cerevisiae
No ortholog No ortholog No ortholog No ortholog No ortholog No ortholog
Gene Details
Gene Sorter
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.
Biochemical and Signaling Pathways
KEGG - Kyoto Encyclopedia of Genes and Genomes hsa04310 - Wnt signaling pathwayhsa04360 - Axon guidancehsa04370 - VEGF signaling pathwayhsa04650 - Natural killer cell mediated cytotoxicityhsa04660 - T cell receptor signaling pathwayhsa04662 - B cell receptor signaling pathway
Other Names for This Gene
Gene Model Information
category:
coding
nonsense-mediated-decay:
no
RNA accession:
NM_138713.3
exon count:
15 CDS single in 3' UTR:
no
RNA size:
13307
ORF size:
4650 CDS single in intron:
no
Alignment % ID:
100.00
txCdsPredict score:
9497.00 frame shift in genome:
no
% Coverage:
99.95
has start codon:
yes
stop codon in genome:
no
# of Alignments:
1
has end codon:
yes
retained intron:
yes
# AT/AC introns
0
selenocysteine:
no
end bleed into intron:
0 # strange splices:
0
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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.