Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10725
Gene name Gene Name - the full gene name approved by the HGNC.
Nuclear factor of activated T cells 5
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NFAT5
Synonyms (NCBI Gene) Gene synonyms aliases
NF-AT5, NFATL1, NFATZ, OREBP, TONEBP
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16q22.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
miRTarBase ID miRNA Experiments Reference
MIRT005398 hsa-miR-24-3p qRT-PCR 19296935
MIRT004971 hsa-miR-31-5p Luciferase reporter assay, qRT-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 factor Regulation Reference
SOX17 Repression 24407731
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 21873635
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA 11485737, 11780147
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
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
604708 7774 ENSG00000102908
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Diabetes mellitus Diabetes Mellitus, Non-Insulin-Dependent rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237
View all (293 more)
30054458, 30595370
Unknown
Disease term Disease name Evidence References Source
Metabolic Syndrome Metabolic Syndrome GWAS
Diabetes Diabetes GWAS
Gout Gout GWAS
Hyperuricemia Hyperuricemia GWAS
Associations from Text Mining
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