NFATC4 (nuclear factor of activated T cells 4) - Rat Genome Database

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Gene: NFATC4 (nuclear factor of activated T cells 4) Homo sapiens
Analyze
Symbol: NFATC4
Name: nuclear factor of activated T cells 4
RGD ID: 1321836
HGNC Page HGNC:7778
Description: Enables DNA-binding transcription repressor activity, RNA polymerase II-specific and sequence-specific double-stranded DNA binding activity. Involved in negative regulation of miRNA transcription. Located in cytosol and nuclear speck. Implicated in dilated cardiomyopathy.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: NF-AT3; NF-ATc4; NFAT3; nuclear factor of activated T-cells 4; nuclear factor of activated T-cells, cytoplasmic 4; nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4; T cell transcription factor NFAT3; T-cell transcription factor NFAT3
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381424,366,911 - 24,379,604 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1424,365,673 - 24,379,604 (+)EnsemblGRCh38hg38GRCh38
GRCh371424,836,117 - 24,848,810 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361423,907,094 - 23,918,650 (+)NCBINCBI36hg18NCBI36
Build 341423,907,093 - 23,918,648NCBI
Celera144,700,788 - 4,713,452 (+)NCBI
Cytogenetic Map14q12NCBI
HuRef144,950,950 - 4,963,469 (+)NCBIHuRef
CHM1_11424,834,722 - 24,847,385 (+)NCBICHM1_1
T2T-CHM13v2.01418,565,666 - 18,578,358 (+)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(S)-colchicine  (EXP)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
20-HETE  (EXP,ISO)
3,3',5,5'-tetrabromobisphenol A  (ISO)
4,4'-sulfonyldiphenol  (ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
acrylamide  (EXP,ISO)
all-trans-retinoic acid  (ISO)
antirheumatic drug  (EXP)
azoxystrobin  (EXP)
benzo[a]pyrene  (EXP)
bisphenol A  (ISO)
cadmium dichloride  (EXP)
Calcimycin  (EXP)
capsaicin  (ISO)
carboplatin  (ISO)
carvedilol  (ISO)
chlordecone  (ISO)
chlorohydrocarbon  (ISO)
cisplatin  (EXP,ISO)
Cuprizon  (ISO)
cyclosporin A  (EXP,ISO)
cytochalasin D  (EXP)
dibutyl phthalate  (ISO)
dorsomorphin  (EXP)
endosulfan  (ISO)
entinostat  (EXP)
ethanol  (EXP,ISO)
fenofibrate  (ISO)
fructose  (ISO)
fulvestrant  (EXP)
gallic acid  (EXP)
harmine  (EXP)
ionomycin  (ISO)
lead(0)  (EXP)
lead(2+)  (EXP)
mercury atom  (EXP)
mercury(0)  (EXP)
methamphetamine  (ISO)
methylmercury chloride  (ISO)
metoprolol  (ISO)
N-methyl-4-phenylpyridinium  (EXP)
nickel atom  (EXP)
nickel subsulfide  (ISO)
panobinostat  (EXP)
paracetamol  (ISO)
phenylephrine  (EXP,ISO)
phenylmercury acetate  (EXP)
phorbol 13-acetate 12-myristate  (EXP)
pterostilbene  (EXP)
quercetin  (EXP)
resveratrol  (EXP)
rotenone  (EXP)
SB 431542  (EXP)
SCH 23390  (ISO)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenite  (EXP)
tacrolimus hydrate  (EXP,ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
toluene  (ISO)
trichostatin A  (EXP)
valproic acid  (EXP,ISO)
vincaleukoblastine  (EXP)
vorinostat  (EXP)
WIN 55212-2  (ISO)
zinc atom  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
brain-derived neurotrophic factor receptor signaling pathway  (IEA,ISS)
branching involved in blood vessel morphogenesis  (IEA,ISO)
calcineurin-NFAT signaling cascade  (IBA,IEA,ISO)
cell differentiation  (IEA)
cellular respiration  (IEA,ISO)
cellular response to ionomycin  (ISO)
cellular response to lithium ion  (IEA,ISO)
cellular response to UV  (IEA,ISO)
dendrite morphogenesis  (IEA,ISO)
heart development  (IEA,ISO)
inflammatory response  (TAS)
intrinsic apoptotic signaling pathway in response to DNA damage  (IEA,ISO)
long-term memory  (IEA,ISS)
long-term synaptic potentiation  (IEA,ISS)
muscle cell development  (IEA)
negative regulation of chromatin binding  (IEA,ISO)
negative regulation of dendrite morphogenesis  (IEA,ISO)
negative regulation of miRNA transcription  (IGI)
negative regulation of neuron apoptotic process  (IEA,ISS)
negative regulation of protein binding  (IEA)
negative regulation of synapse maturation  (IEA,ISO)
negative regulation of transcription by RNA polymerase II  (IEA)
negative regulation of Wnt signaling pathway  (IEA)
neuron apoptotic process  (IEA,ISO)
positive regulation of apoptotic signaling pathway  (IEA,ISO)
positive regulation of neuron apoptotic process  (IEA,ISO)
positive regulation of transcription by RNA polymerase II  (IEA,ISO)
positive regulation of tumor necrosis factor production  (IEA,ISO)
regulation of DNA-templated transcription  (IEA,ISO)
regulation of synaptic plasticity  (IEA,ISO)
regulation of transcription by RNA polymerase II  (IBA)
smooth muscle cell differentiation  (IEA)
synapse maturation  (IEA,ISO)
transcription by RNA polymerase II  (IEA,ISO)
vascular associated smooth muscle cell development  (IEA,ISO)
vascular associated smooth muscle cell differentiation  (IEA,ISO)

Cellular Component
chromatin  (ISA)
cytoplasm  (IEA,ISO)
cytosol  (IDA,IEA,ISO)
nuclear speck  (IDA)
nucleus  (IDA,IEA,ISO)
transcription regulator complex  (IBA,IEA)

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. A calcineurin-dependent transcriptional pathway for cardiac hypertrophy. Molkentin JD, etal., Cell. 1998 Apr 17;93(2):215-28.
3. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
4. Polymorphisms of genes of the cardiac calcineurin pathway and cardiac hypertrophy. Poirier O, etal., Eur J Hum Genet. 2003 Sep;11(9):659-64.
5. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
7. Calcium-calcineurin signaling in the regulation of cardiac hypertrophy. Wilkins BJ and Molkentin JD, Biochem Biophys Res Commun. 2004 Oct 1;322(4):1178-91.
Additional References at PubMed
PMID:7749981   PMID:7957556   PMID:7999066   PMID:8814265   PMID:9143705   PMID:9660947   PMID:10089876   PMID:10611249   PMID:11439183   PMID:11514544   PMID:11877454   PMID:11997522  
PMID:12370307   PMID:12477932   PMID:12482669   PMID:12787506   PMID:12788643   PMID:16219765   PMID:16260021   PMID:16344560   PMID:16489119   PMID:16645724   PMID:16690925   PMID:17044076  
PMID:17081983   PMID:17194453   PMID:17213202   PMID:17875713   PMID:18029348   PMID:18034994   PMID:18097055   PMID:18218901   PMID:18668201   PMID:18675896   PMID:19026640   PMID:19274049  
PMID:19653005   PMID:19784808   PMID:19913121   PMID:20101218   PMID:20237496   PMID:20385772   PMID:20628086   PMID:20881960   PMID:21047202   PMID:21081043   PMID:21873635   PMID:21988832  
PMID:22164265   PMID:22234350   PMID:22378890   PMID:22593154   PMID:22977251   PMID:23543060   PMID:23563607   PMID:23703530   PMID:23888774   PMID:24255178   PMID:24257415   PMID:24302958  
PMID:25241761   PMID:25422138   PMID:25464930   PMID:25514788   PMID:25609649   PMID:25728138   PMID:26186194   PMID:26527057   PMID:27307045   PMID:27893713   PMID:28473536   PMID:28514442  
PMID:28760926   PMID:28986522   PMID:29180489   PMID:29844126   PMID:32182216   PMID:32805187   PMID:33961781   PMID:35140242  


Genomics

Comparative Map Data
NFATC4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381424,366,911 - 24,379,604 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1424,365,673 - 24,379,604 (+)EnsemblGRCh38hg38GRCh38
GRCh371424,836,117 - 24,848,810 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361423,907,094 - 23,918,650 (+)NCBINCBI36hg18NCBI36
Build 341423,907,093 - 23,918,648NCBI
Celera144,700,788 - 4,713,452 (+)NCBI
Cytogenetic Map14q12NCBI
HuRef144,950,950 - 4,963,469 (+)NCBIHuRef
CHM1_11424,834,722 - 24,847,385 (+)NCBICHM1_1
T2T-CHM13v2.01418,565,666 - 18,578,358 (+)NCBI
Nfatc4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391456,062,252 - 56,071,400 (+)NCBIGRCm39mm39
GRCm39 Ensembl1456,060,601 - 56,071,400 (+)Ensembl
GRCm381455,824,795 - 55,833,943 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1455,823,144 - 55,833,943 (+)EnsemblGRCm38mm10GRCm38
MGSCv371456,443,632 - 56,452,780 (+)NCBIGRCm37mm9NCBIm37
MGSCv361454,779,079 - 54,788,014 (+)NCBImm8
Celera1453,626,552 - 53,635,649 (+)NCBICelera
Cytogenetic Map14C3NCBI
Nfatc4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21529,286,998 - 29,314,610 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl1529,305,535 - 29,314,610 (+)Ensembl
Rnor_6.01534,493,163 - 34,502,238 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1534,493,138 - 34,504,326 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01538,381,669 - 38,390,744 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41533,969,774 - 33,978,848 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11533,985,319 - 33,994,626 (+)NCBI
Celera1528,880,299 - 28,889,401 (+)NCBICelera
Cytogenetic Map15p13NCBI
Nfatc4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540935,931,173 - 35,940,696 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540935,931,208 - 35,941,555 (-)NCBIChiLan1.0ChiLan1.0
NFATC4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11423,267,667 - 23,279,249 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1423,266,702 - 23,279,249 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0145,141,699 - 5,156,021 (+)NCBIMhudiblu_PPA_v0panPan3
NFATC4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.184,337,098 - 4,346,409 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl84,336,450 - 4,346,100 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha84,259,072 - 4,268,379 (+)NCBI
ROS_Cfam_1.084,448,860 - 4,458,168 (+)NCBI
ROS_Cfam_1.0 Ensembl84,448,341 - 4,458,173 (+)Ensembl
UMICH_Zoey_3.184,138,640 - 4,147,945 (+)NCBI
UNSW_CanFamBas_1.084,201,033 - 4,210,339 (+)NCBI
UU_Cfam_GSD_1.084,463,303 - 4,472,610 (+)NCBI
Nfatc4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440864036,201,144 - 36,210,126 (+)NCBI
SpeTri2.0NW_004936722178,866 - 187,847 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NFATC4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl774,918,984 - 74,929,600 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1774,918,982 - 74,929,688 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2780,189,893 - 80,200,589 (-)NCBISscrofa10.2Sscrofa10.2susScr3
NFATC4
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1241,352,173 - 1,362,150 (+)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl241,352,291 - 1,362,680 (+)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366603613,036,667 - 13,046,650 (+)NCBIVero_WHO_p1.0
Nfatc4
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248208,136,156 - 8,146,312 (-)EnsemblHetGla_female_1.0hetGla2
HetGla 1.0NW_0046248208,136,231 - 8,145,395 (-)NCBIHetGla_female_1.0hetGla2

Position Markers
WI-11710  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371424,847,115 - 24,847,244UniSTSGRCh37
Build 361423,916,955 - 23,917,084RGDNCBI36
Celera144,711,757 - 4,711,886RGD
Cytogenetic Map14q11.2UniSTS
HuRef144,961,774 - 4,961,903UniSTS
GeneMap99-GB4 RH Map1420.64UniSTS
Whitehead-RH Map1427.7UniSTS
NCBI RH Map1438.0UniSTS
SHGC-57765  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371424,848,647 - 24,848,751UniSTSGRCh37
Build 361423,918,487 - 23,918,591RGDNCBI36
Celera144,713,289 - 4,713,393RGD
Cytogenetic Map14q11.2UniSTS
HuRef144,963,306 - 4,963,410UniSTS
TNG Radiation Hybrid Map142304.0UniSTS
NFATC4_1481  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371424,848,001 - 24,848,856UniSTSGRCh37
Build 361423,917,841 - 23,918,696RGDNCBI36
Celera144,712,643 - 4,713,498RGD
HuRef144,962,660 - 4,963,515UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:21491
Count of miRNA genes:1194
Interacting mature miRNAs:1529
Transcripts:ENST00000250373, ENST00000413692, ENST00000422617, ENST00000424781, ENST00000440487, ENST00000539237, ENST00000553469, ENST00000553708, ENST00000553879, ENST00000554050, ENST00000554344, ENST00000554473, ENST00000554591, ENST00000554655, ENST00000554661, ENST00000554779, ENST00000554903, ENST00000554966, ENST00000555167, ENST00000555393, ENST00000555453, ENST00000555590, ENST00000555802, ENST00000555821, ENST00000556169, ENST00000556279, ENST00000556302, ENST00000556759, ENST00000556957, ENST00000557028, ENST00000557451, ENST00000557674, ENST00000557767
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1979 1676 1250 145 463 17 3277 1022 1447 113 1289 1358 130 1195 1917 1
Low 425 580 431 438 622 407 1052 1166 2272 269 141 197 42 1 9 871 3 2
Below cutoff 25 726 37 35 794 35 13 3 8 15 19 30 2 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001136022 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001198965 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001198966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001198967 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001288802 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001320043 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001363681 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001363682 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004554 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK293185 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293873 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300450 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309339 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309907 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310433 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310445 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311078 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311425 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL096870 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC008857 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC037735 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC053855 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG723088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471078 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB372155 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC318153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC403050 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU887632 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU887633 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU887634 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU887635 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU887636 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU887637 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU887638 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU887639 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU887640 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU887641 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU887642 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU887643 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU887644 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU887645 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU887646 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU887647 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU887648 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU887649 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU887650 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU887651 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU887652 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU887653 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU887654 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU887655 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF548070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584383 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L41066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000250373   ⟹   ENSP00000250373
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1424,368,184 - 24,379,601 (+)Ensembl
RefSeq Acc Id: ENST00000413692   ⟹   ENSP00000388910
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1424,366,911 - 24,379,604 (+)Ensembl
RefSeq Acc Id: ENST00000422617   ⟹   ENSP00000396788
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1424,369,153 - 24,379,604 (+)Ensembl
RefSeq Acc Id: ENST00000424781   ⟹   ENSP00000388668
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1424,367,260 - 24,379,604 (+)Ensembl
RefSeq Acc Id: ENST00000440487
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1424,365,673 - 24,371,816 (+)Ensembl
RefSeq Acc Id: ENST00000539237   ⟹   ENSP00000439350
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1424,367,364 - 24,379,604 (+)Ensembl
RefSeq Acc Id: ENST00000553469   ⟹   ENSP00000451502
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1424,367,502 - 24,377,705 (+)Ensembl
RefSeq Acc Id: ENST00000553708   ⟹   ENSP00000450590
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1424,368,341 - 24,379,604 (+)Ensembl
RefSeq Acc Id: ENST00000553879   ⟹   ENSP00000452349
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1424,369,082 - 24,377,728 (+)Ensembl
RefSeq Acc Id: ENST00000554050   ⟹   ENSP00000451151
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1424,368,020 - 24,378,056 (+)Ensembl
RefSeq Acc Id: ENST00000554344   ⟹   ENSP00000450469
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1424,369,153 - 24,377,705 (+)Ensembl
RefSeq Acc Id: ENST00000554473   ⟹   ENSP00000450810
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1424,372,815 - 24,377,705 (+)Ensembl
RefSeq Acc Id: ENST00000554591   ⟹   ENSP00000452039
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1424,366,939 - 24,377,908 (+)Ensembl
RefSeq Acc Id: ENST00000554655
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1424,368,048 - 24,377,717 (+)Ensembl
RefSeq Acc Id: ENST00000554661   ⟹   ENSP00000450733
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1424,369,153 - 24,377,705 (+)Ensembl
RefSeq Acc Id: ENST00000554779   ⟹   ENSP00000451992
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1424,368,186 - 24,372,586 (+)Ensembl
RefSeq Acc Id: ENST00000554903   ⟹   ENSP00000451853
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1424,368,070 - 24,369,828 (+)Ensembl
RefSeq Acc Id: ENST00000554966   ⟹   ENSP00000450644
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1424,367,260 - 24,377,705 (+)Ensembl
RefSeq Acc Id: ENST00000555167   ⟹   ENSP00000451395
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1424,372,815 - 24,379,604 (+)Ensembl
RefSeq Acc Id: ENST00000555393   ⟹   ENSP00000451801
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1424,374,123 - 24,378,001 (+)Ensembl
RefSeq Acc Id: ENST00000555453   ⟹   ENSP00000450686
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1424,369,167 - 24,378,055 (+)Ensembl
RefSeq Acc Id: ENST00000555590   ⟹   ENSP00000451224
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1424,367,260 - 24,377,705 (+)Ensembl
RefSeq Acc Id: ENST00000555802   ⟹   ENSP00000451590
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1424,374,123 - 24,378,001 (+)Ensembl
RefSeq Acc Id: ENST00000555821
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1424,376,074 - 24,378,056 (+)Ensembl
RefSeq Acc Id: ENST00000556169   ⟹   ENSP00000451454
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1424,369,153 - 24,377,705 (+)Ensembl
RefSeq Acc Id: ENST00000556279   ⟹   ENSP00000452270
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1424,367,468 - 24,377,705 (+)Ensembl
RefSeq Acc Id: ENST00000556302
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1424,369,245 - 24,376,008 (+)Ensembl
RefSeq Acc Id: ENST00000556759   ⟹   ENSP00000451183
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1424,372,815 - 24,378,024 (+)Ensembl
RefSeq Acc Id: ENST00000556957
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1424,367,260 - 24,374,145 (+)Ensembl
RefSeq Acc Id: ENST00000557028
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1424,368,186 - 24,374,707 (+)Ensembl
RefSeq Acc Id: ENST00000557451   ⟹   ENSP00000451284
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1424,369,153 - 24,379,604 (+)Ensembl
RefSeq Acc Id: ENST00000557674   ⟹   ENSP00000452352
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1424,368,999 - 24,370,057 (+)Ensembl
RefSeq Acc Id: ENST00000557767   ⟹   ENSP00000451496
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1424,374,123 - 24,377,705 (+)Ensembl
RefSeq Acc Id: NM_001136022   ⟹   NP_001129494
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381424,366,911 - 24,379,601 (+)NCBI
GRCh371424,834,885 - 24,848,810 (+)NCBI
HuRef144,950,922 - 4,963,469 (+)NCBI
CHM1_11424,834,694 - 24,847,385 (+)NCBI
T2T-CHM13v2.01418,565,666 - 18,578,355 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001198965   ⟹   NP_001185894
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381424,368,184 - 24,379,601 (+)NCBI
GRCh371424,834,885 - 24,848,810 (+)NCBI
HuRef144,950,922 - 4,963,469 (+)NCBI
CHM1_11424,835,803 - 24,847,385 (+)NCBI
T2T-CHM13v2.01418,566,938 - 18,578,355 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001198966   ⟹   NP_001185895
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381424,369,082 - 24,379,604 (+)NCBI
GRCh371424,834,885 - 24,848,810 (+)NCBI
HuRef144,950,922 - 4,963,469 (+)NCBI
CHM1_11424,836,863 - 24,847,385 (+)NCBI
T2T-CHM13v2.01418,567,836 - 18,578,358 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001198967   ⟹   NP_001185896
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381424,366,911 - 24,379,601 (+)NCBI
GRCh371424,834,885 - 24,848,810 (+)NCBI
HuRef144,950,922 - 4,963,469 (+)NCBI
CHM1_11424,834,694 - 24,847,385 (+)NCBI
T2T-CHM13v2.01418,565,666 - 18,578,355 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001288802   ⟹   NP_001275731
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381424,368,998 - 24,379,604 (+)NCBI
HuRef144,950,922 - 4,963,469 (+)NCBI
CHM1_11424,836,934 - 24,847,385 (+)NCBI
T2T-CHM13v2.01418,567,752 - 18,578,358 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001320043   ⟹   NP_001306972
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381424,366,911 - 24,379,601 (+)NCBI
CHM1_11424,834,694 - 24,847,385 (+)NCBI
T2T-CHM13v2.01418,565,666 - 18,578,355 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001363681   ⟹   NP_001350610
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381424,368,998 - 24,379,604 (+)NCBI
T2T-CHM13v2.01418,567,752 - 18,578,358 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001363682   ⟹   NP_001350611
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381424,368,998 - 24,379,604 (+)NCBI
T2T-CHM13v2.01418,567,752 - 18,578,358 (+)NCBI
Sequence:
RefSeq Acc Id: NM_004554   ⟹   NP_004545
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381424,368,184 - 24,379,601 (+)NCBI
GRCh371424,834,885 - 24,848,810 (+)NCBI
Build 361423,907,094 - 23,918,650 (+)NCBI Archive
HuRef144,950,922 - 4,963,469 (+)NCBI
CHM1_11424,835,803 - 24,847,385 (+)NCBI
T2T-CHM13v2.01418,566,938 - 18,578,355 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001129494 (Get FASTA)   NCBI Sequence Viewer  
  NP_001185894 (Get FASTA)   NCBI Sequence Viewer  
  NP_001185895 (Get FASTA)   NCBI Sequence Viewer  
  NP_001185896 (Get FASTA)   NCBI Sequence Viewer  
  NP_001275731 (Get FASTA)   NCBI Sequence Viewer  
  NP_001306972 (Get FASTA)   NCBI Sequence Viewer  
  NP_001350610 (Get FASTA)   NCBI Sequence Viewer  
  NP_001350611 (Get FASTA)   NCBI Sequence Viewer  
  NP_004545 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA79175 (Get FASTA)   NCBI Sequence Viewer  
  AAH08857 (Get FASTA)   NCBI Sequence Viewer  
  AAH53855 (Get FASTA)   NCBI Sequence Viewer  
  ACG55652 (Get FASTA)   NCBI Sequence Viewer  
  ACG55653 (Get FASTA)   NCBI Sequence Viewer  
  ACG55654 (Get FASTA)   NCBI Sequence Viewer  
  ACG55655 (Get FASTA)   NCBI Sequence Viewer  
  ACG55656 (Get FASTA)   NCBI Sequence Viewer  
  ACG55657 (Get FASTA)   NCBI Sequence Viewer  
  ACG55658 (Get FASTA)   NCBI Sequence Viewer  
  ACG55659 (Get FASTA)   NCBI Sequence Viewer  
  ACG55660 (Get FASTA)   NCBI Sequence Viewer  
  ACG55661 (Get FASTA)   NCBI Sequence Viewer  
  ACG55662 (Get FASTA)   NCBI Sequence Viewer  
  ACG55663 (Get FASTA)   NCBI Sequence Viewer  
  ACG55664 (Get FASTA)   NCBI Sequence Viewer  
  ACG55665 (Get FASTA)   NCBI Sequence Viewer  
  ACG55666 (Get FASTA)   NCBI Sequence Viewer  
  ACG55667 (Get FASTA)   NCBI Sequence Viewer  
  ACG55668 (Get FASTA)   NCBI Sequence Viewer  
  ACG55669 (Get FASTA)   NCBI Sequence Viewer  
  ACG55670 (Get FASTA)   NCBI Sequence Viewer  
  ACG55671 (Get FASTA)   NCBI Sequence Viewer  
  ACG55672 (Get FASTA)   NCBI Sequence Viewer  
  ACG55673 (Get FASTA)   NCBI Sequence Viewer  
  ACG55674 (Get FASTA)   NCBI Sequence Viewer  
  ACG55675 (Get FASTA)   NCBI Sequence Viewer  
  BAG56726 (Get FASTA)   NCBI Sequence Viewer  
  BAG57262 (Get FASTA)   NCBI Sequence Viewer  
  BAG62171 (Get FASTA)   NCBI Sequence Viewer  
  BAG63617 (Get FASTA)   NCBI Sequence Viewer  
  CCO13781 (Get FASTA)   NCBI Sequence Viewer  
  EAW66020 (Get FASTA)   NCBI Sequence Viewer  
  Q14934 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_001129494   ⟸   NM_001136022
- Peptide Label: isoform 1
- UniProtKB: Q14934 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001185896   ⟸   NM_001198967
- Peptide Label: isoform 5
- UniProtKB: Q14934 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_004545   ⟸   NM_004554
- Peptide Label: isoform 2
- UniProtKB: Q96H68 (UniProtKB/Swiss-Prot),   Q14934 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001185894   ⟸   NM_001198965
- Peptide Label: isoform 3
- UniProtKB: Q14934 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001185895   ⟸   NM_001198966
- Peptide Label: isoform 4
- UniProtKB: Q14934 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001275731   ⟸   NM_001288802
- Peptide Label: isoform 6
- UniProtKB: Q14934 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001306972   ⟸   NM_001320043
- Peptide Label: isoform 7
- UniProtKB: Q14934 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001350610   ⟸   NM_001363681
- Peptide Label: isoform 8
RefSeq Acc Id: NP_001350611   ⟸   NM_001363682
- Peptide Label: isoform 9
RefSeq Acc Id: ENSP00000451590   ⟸   ENST00000555802
RefSeq Acc Id: ENSP00000451395   ⟸   ENST00000555167
RefSeq Acc Id: ENSP00000451224   ⟸   ENST00000555590
RefSeq Acc Id: ENSP00000450686   ⟸   ENST00000555453
RefSeq Acc Id: ENSP00000451801   ⟸   ENST00000555393
RefSeq Acc Id: ENSP00000452270   ⟸   ENST00000556279
RefSeq Acc Id: ENSP00000451454   ⟸   ENST00000556169
RefSeq Acc Id: ENSP00000451183   ⟸   ENST00000556759
RefSeq Acc Id: ENSP00000388668   ⟸   ENST00000424781
RefSeq Acc Id: ENSP00000451496   ⟸   ENST00000557767
RefSeq Acc Id: ENSP00000452352   ⟸   ENST00000557674
RefSeq Acc Id: ENSP00000451284   ⟸   ENST00000557451
RefSeq Acc Id: ENSP00000388910   ⟸   ENST00000413692
RefSeq Acc Id: ENSP00000439350   ⟸   ENST00000539237
RefSeq Acc Id: ENSP00000452349   ⟸   ENST00000553879
RefSeq Acc Id: ENSP00000450590   ⟸   ENST00000553708
RefSeq Acc Id: ENSP00000451502   ⟸   ENST00000553469
RefSeq Acc Id: ENSP00000250373   ⟸   ENST00000250373
RefSeq Acc Id: ENSP00000450733   ⟸   ENST00000554661
RefSeq Acc Id: ENSP00000452039   ⟸   ENST00000554591
RefSeq Acc Id: ENSP00000450810   ⟸   ENST00000554473
RefSeq Acc Id: ENSP00000450469   ⟸   ENST00000554344
RefSeq Acc Id: ENSP00000396788   ⟸   ENST00000422617
RefSeq Acc Id: ENSP00000450644   ⟸   ENST00000554966
RefSeq Acc Id: ENSP00000451853   ⟸   ENST00000554903
RefSeq Acc Id: ENSP00000451992   ⟸   ENST00000554779
RefSeq Acc Id: ENSP00000451151   ⟸   ENST00000554050
Protein Domains
IPT/TIG   RHD

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q14934-F1-model_v2 AlphaFold Q14934 1-902 view protein structure

Promoters
RGD ID:6791762
Promoter ID:HG_KWN:19109
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001136022,   NM_004554,   UC010ALR.1,   UC010ALS.1,   UC010ALT.1,   UC010ALU.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361423,905,136 - 23,907,257 (+)MPROMDB
RGD ID:6791763
Promoter ID:HG_KWN:19110
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid,   NB4
Transcripts:UC010ALV.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361423,907,614 - 23,908,114 (+)MPROMDB
RGD ID:7227315
Promoter ID:EPDNEW_H19401
Type:multiple initiation site
Name:NFATC4_2
Description:nuclear factor of activated T-cells 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H19402  EPDNEW_H19403  EPDNEW_H19404  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381424,367,514 - 24,367,574EPDNEW
RGD ID:7227311
Promoter ID:EPDNEW_H19402
Type:initiation region
Name:NFATC4_3
Description:nuclear factor of activated T-cells 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H19403  EPDNEW_H19401  EPDNEW_H19404  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381424,368,050 - 24,368,110EPDNEW
RGD ID:7227313
Promoter ID:EPDNEW_H19403
Type:initiation region
Name:NFATC4_1
Description:nuclear factor of activated T-cells 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H19402  EPDNEW_H19401  EPDNEW_H19404  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381424,368,186 - 24,368,246EPDNEW
RGD ID:7227317
Promoter ID:EPDNEW_H19404
Type:initiation region
Name:NFATC4_4
Description:nuclear factor of activated T-cells 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H19402  EPDNEW_H19403  EPDNEW_H19401  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381424,369,250 - 24,369,310EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 14q11.2-12(chr14:20151149-27723796)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051484]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051484]|See cases [RCV000051484] Chr14:20151149..27723796 [GRCh38]
Chr14:20619308..28193002 [GRCh37]
Chr14:19689148..27262842 [NCBI36]
Chr14:14q11.2-12
pathogenic
NFATC4:c.2404G>A (p.Glu802Lys) single nucleotide variant Malignant melanoma [RCV000062741] Chr14:24376452 [GRCh38]
Chr14:24845658 [GRCh37]
Chr14:23915498 [NCBI36]
Chr14:14q12
not provided
GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3 copy number gain See cases [RCV000135543] Chr14:20151149..106855263 [GRCh38]
Chr14:20619308..107263478 [GRCh37]
Chr14:19689148..106334523 [NCBI36]
Chr14:14q11.2-32.33
pathogenic
GRCh38/hg38 14q11.2-12(chr14:20412587-25018120)x3 copy number gain See cases [RCV000137725] Chr14:20412587..25018120 [GRCh38]
Chr14:20880746..25487326 [GRCh37]
Chr14:19950586..24557166 [NCBI36]
Chr14:14q11.2-12
likely pathogenic
GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1 copy number loss See cases [RCV000051485] Chr14:20196945..45284802 [GRCh38]
Chr14:20665104..45754005 [GRCh37]
Chr14:19734944..44823755 [NCBI36]
Chr14:14q11.2-21.2
pathogenic
GRCh38/hg38 14q11.2-21.1(chr14:23548960-41983402)x1 copy number loss See cases [RCV000051490] Chr14:23548960..41983402 [GRCh38]
Chr14:24018169..42452605 [GRCh37]
Chr14:23088009..41522355 [NCBI36]
Chr14:14q11.2-21.1
pathogenic
GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3 copy number gain See cases [RCV000053803] Chr14:20000611..38984415 [GRCh38]
Chr14:20468770..39453619 [GRCh37]
Chr14:19538610..38523370 [NCBI36]
Chr14:14q11.2-21.1
pathogenic
GRCh38/hg38 14q11.2-21.1(chr14:20150949-39746154)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053806]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053806]|See cases [RCV000053806] Chr14:20150949..39746154 [GRCh38]
Chr14:20619108..40215358 [GRCh37]
Chr14:19688948..39285109 [NCBI36]
Chr14:14q11.2-21.1
pathogenic
NFATC4:c.1257G>A (p.Leu419Leu=) single nucleotide variant Malignant melanoma [RCV000070515] Chr14:24370466 [GRCh38]
Chr14:24839672 [GRCh37]
Chr14:23909512 [NCBI36]
Chr14:14q12
not provided
NFATC4:c.1258G>A (p.Gly420Arg) single nucleotide variant Malignant melanoma [RCV000070516] Chr14:24370467 [GRCh38]
Chr14:24839673 [GRCh37]
Chr14:23909513 [NCBI36]
Chr14:14q12
not provided
GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3 copy number gain See cases [RCV000446256] Chr14:19794561..107234280 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
GRCh38/hg38 14q11.2-12(chr14:23984065-25374494)x1 copy number loss See cases [RCV000142873] Chr14:23984065..25374494 [GRCh38]
Chr14:24453274..25843700 [GRCh37]
Chr14:23523114..24913540 [NCBI36]
Chr14:14q11.2-12
pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3 copy number gain See cases [RCV000143373] Chr14:20043514..106877229 [GRCh38]
Chr14:20511673..107285437 [GRCh37]
Chr14:19581513..106356482 [NCBI36]
Chr14:14q11.2-32.33
pathogenic
GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3 copy number gain See cases [RCV000143186] Chr14:20022693..44093672 [GRCh38]
Chr14:20490852..44562875 [GRCh37]
Chr14:19560692..43632625 [NCBI36]
Chr14:14q11.2-21.2
pathogenic
GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3 copy number gain See cases [RCV000143748] Chr14:20043513..48642042 [GRCh38]
Chr14:20511672..49111245 [GRCh37]
Chr14:19581512..48180995 [NCBI36]
Chr14:14q11.2-21.3
pathogenic
GRCh37/hg19 14q11.2-12(chr14:19100682-28730087) copy number gain not provided [RCV000767822] Chr14:19100682..28730087 [GRCh37]
Chr14:14q11.2-12
pathogenic
GRCh37/hg19 14q11.2-12(chr14:19794561-27768254)x3 copy number gain See cases [RCV000240285] Chr14:19794561..27768254 [GRCh37]
Chr14:14q11.2-12
pathogenic
GRCh37/hg19 14q11.2-22.2(chr14:23164384-54733411)x3 copy number gain See cases [RCV000447658] Chr14:23164384..54733411 [GRCh37]
Chr14:14q11.2-22.2
pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437) copy number gain See cases [RCV000512041] Chr14:20511673..107285437 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
GRCh37/hg19 14q11.2-13.1(chr14:19794561-34049214)x3 copy number gain See cases [RCV000448273] Chr14:19794561..34049214 [GRCh37]
Chr14:14q11.2-13.1
pathogenic
NM_004554.5(NFATC4):c.336G>A (p.Glu112=) single nucleotide variant not provided [RCV000926606] Chr14:24369734 [GRCh38]
Chr14:24838940 [GRCh37]
Chr14:14q12
likely benign
NM_004554.5(NFATC4):c.324C>T (p.Gly108=) single nucleotide variant not provided [RCV000959443] Chr14:24369722 [GRCh38]
Chr14:24838928 [GRCh37]
Chr14:14q12
benign
GRCh37/hg19 14q11.2-12(chr14:24233721-31377083)x1 copy number loss See cases [RCV000510673] Chr14:24233721..31377083 [GRCh37]
Chr14:14q11.2-12
pathogenic
GRCh37/hg19 14q11.1-32.33(chr14:19000422-107289053)x3 copy number gain not provided [RCV000738412] Chr14:19000422..107289053 [GRCh37]
Chr14:14q11.1-32.33
pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19280733-107287663)x3 copy number gain not provided [RCV000738413] Chr14:19280733..107287663 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19327823-107287663)x3 copy number gain not provided [RCV000738414] Chr14:19327823..107287663 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
NC_000014.8:g.(21162263_36986276)_(36987308_50713602)del deletion Brain-lung-thyroid syndrome [RCV002221171] Chr14:36986276..36987308 [GRCh37]
Chr14:14q11.2-21.3
pathogenic
GRCh37/hg19 14q11.2-21.2(chr14:20511672-44829030)x3 copy number gain not provided [RCV001006605] Chr14:20511672..44829030 [GRCh37]
Chr14:14q11.2-21.2
pathogenic
GRCh37/hg19 14q11.2-21.1(chr14:20511672-42881888)x3 copy number gain not provided [RCV001249358] Chr14:20511672..42881888 [GRCh37]
Chr14:14q11.2-21.1
not provided

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7778 AgrOrtholog
COSMIC NFATC4 COSMIC
Ensembl Genes ENSG00000100968 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000285485 UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000250373 ENTREZGENE
  ENSP00000250373.4 UniProtKB/Swiss-Prot
  ENSP00000388668.2 UniProtKB/Swiss-Prot
  ENSP00000388910 ENTREZGENE
  ENSP00000388910.2 UniProtKB/Swiss-Prot
  ENSP00000396788 ENTREZGENE
  ENSP00000396788.3 UniProtKB/Swiss-Prot
  ENSP00000439350.2 UniProtKB/Swiss-Prot
  ENSP00000450469.1 UniProtKB/Swiss-Prot
  ENSP00000450590.1 UniProtKB/Swiss-Prot
  ENSP00000450644.1 UniProtKB/Swiss-Prot
  ENSP00000450686 ENTREZGENE
  ENSP00000450686.1 UniProtKB/Swiss-Prot
  ENSP00000450733.1 UniProtKB/Swiss-Prot
  ENSP00000450810.1 UniProtKB/Swiss-Prot
  ENSP00000451151 ENTREZGENE
  ENSP00000451151.1 UniProtKB/Swiss-Prot
  ENSP00000451183.1 UniProtKB/Swiss-Prot
  ENSP00000451224.1 UniProtKB/Swiss-Prot
  ENSP00000451284.1 UniProtKB/Swiss-Prot
  ENSP00000451395.1 UniProtKB/Swiss-Prot
  ENSP00000451454 ENTREZGENE
  ENSP00000451454.1 UniProtKB/Swiss-Prot
  ENSP00000451496.1 UniProtKB/Swiss-Prot
  ENSP00000451502.1 UniProtKB/Swiss-Prot
  ENSP00000451590.1 UniProtKB/Swiss-Prot
  ENSP00000451801.1 UniProtKB/Swiss-Prot
  ENSP00000451853.1 UniProtKB/TrEMBL
  ENSP00000451992.1 UniProtKB/TrEMBL
  ENSP00000452039 ENTREZGENE
  ENSP00000452039.1 UniProtKB/Swiss-Prot
  ENSP00000452270.1 UniProtKB/Swiss-Prot
  ENSP00000452349 ENTREZGENE
  ENSP00000452349.1 UniProtKB/Swiss-Prot
  ENSP00000452352.1 UniProtKB/TrEMBL
  ENSP00000493557.1 UniProtKB/Swiss-Prot
  ENSP00000493614.1 UniProtKB/Swiss-Prot
  ENSP00000493733.1 UniProtKB/Swiss-Prot
  ENSP00000493808.1 UniProtKB/Swiss-Prot
  ENSP00000493851.1 UniProtKB/Swiss-Prot
  ENSP00000493885.1 UniProtKB/Swiss-Prot
  ENSP00000493943.1 UniProtKB/Swiss-Prot
  ENSP00000494405.1 UniProtKB/Swiss-Prot
  ENSP00000494577.1 UniProtKB/Swiss-Prot
  ENSP00000494705.1 UniProtKB/Swiss-Prot
  ENSP00000494993.1 UniProtKB/Swiss-Prot
  ENSP00000495011.1 UniProtKB/Swiss-Prot
  ENSP00000495052.1 UniProtKB/Swiss-Prot
  ENSP00000495213.1 UniProtKB/Swiss-Prot
  ENSP00000495684.1 UniProtKB/Swiss-Prot
  ENSP00000495758.1 UniProtKB/Swiss-Prot
  ENSP00000495766.1 UniProtKB/Swiss-Prot
  ENSP00000495926.1 UniProtKB/Swiss-Prot
  ENSP00000496108.1 UniProtKB/Swiss-Prot
  ENSP00000496192.1 UniProtKB/Swiss-Prot
  ENSP00000496558.1 UniProtKB/Swiss-Prot
  ENSP00000496579.1 UniProtKB/Swiss-Prot
  ENSP00000496733.1 UniProtKB/Swiss-Prot
  ENSP00000496777.1 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000250373 ENTREZGENE
  ENST00000250373.9 UniProtKB/Swiss-Prot
  ENST00000413692 ENTREZGENE
  ENST00000413692.6 UniProtKB/Swiss-Prot
  ENST00000422617 ENTREZGENE
  ENST00000422617.7 UniProtKB/Swiss-Prot
  ENST00000424781.6 UniProtKB/Swiss-Prot
  ENST00000539237.6 UniProtKB/Swiss-Prot
  ENST00000553469.5 UniProtKB/Swiss-Prot
  ENST00000553708.5 UniProtKB/Swiss-Prot
  ENST00000553879 ENTREZGENE
  ENST00000553879.5 UniProtKB/Swiss-Prot
  ENST00000554050 ENTREZGENE
  ENST00000554050.5 UniProtKB/Swiss-Prot
  ENST00000554344.5 UniProtKB/Swiss-Prot
  ENST00000554473.5 UniProtKB/Swiss-Prot
  ENST00000554591 ENTREZGENE
  ENST00000554591.5 UniProtKB/Swiss-Prot
  ENST00000554661.5 UniProtKB/Swiss-Prot
  ENST00000554779.1 UniProtKB/TrEMBL
  ENST00000554903.1 UniProtKB/TrEMBL
  ENST00000554966.5 UniProtKB/Swiss-Prot
  ENST00000555167.1 UniProtKB/Swiss-Prot
  ENST00000555393.5 UniProtKB/Swiss-Prot
  ENST00000555453 ENTREZGENE
  ENST00000555453.5 UniProtKB/Swiss-Prot
  ENST00000555590.5 UniProtKB/Swiss-Prot
  ENST00000555802.1 UniProtKB/Swiss-Prot
  ENST00000556169 ENTREZGENE
  ENST00000556169.5 UniProtKB/Swiss-Prot
  ENST00000556279.5 UniProtKB/Swiss-Prot
  ENST00000556759.5 UniProtKB/Swiss-Prot
  ENST00000557451.5 UniProtKB/Swiss-Prot
  ENST00000557674.1 UniProtKB/TrEMBL
  ENST00000557767.5 UniProtKB/Swiss-Prot
  ENST00000642182.1 UniProtKB/Swiss-Prot
  ENST00000642302.2 UniProtKB/Swiss-Prot
  ENST00000642423.1 UniProtKB/Swiss-Prot
  ENST00000642571.1 UniProtKB/Swiss-Prot
  ENST00000642650.1 UniProtKB/Swiss-Prot
  ENST00000643468.1 UniProtKB/Swiss-Prot
  ENST00000643679.1 UniProtKB/Swiss-Prot
  ENST00000643941.1 UniProtKB/Swiss-Prot
  ENST00000644025.1 UniProtKB/Swiss-Prot
  ENST00000644166.1 UniProtKB/Swiss-Prot
  ENST00000644182.1 UniProtKB/Swiss-Prot
  ENST00000644376.1 UniProtKB/Swiss-Prot
  ENST00000644583.1 UniProtKB/Swiss-Prot
  ENST00000644758.1 UniProtKB/Swiss-Prot
  ENST00000645116.1 UniProtKB/Swiss-Prot
  ENST00000645397.1 UniProtKB/Swiss-Prot
  ENST00000645587.1 UniProtKB/Swiss-Prot
  ENST00000645795.1 UniProtKB/Swiss-Prot
  ENST00000646023.1 UniProtKB/Swiss-Prot
  ENST00000646364.1 UniProtKB/Swiss-Prot
  ENST00000646650.1 UniProtKB/Swiss-Prot
  ENST00000646652.1 UniProtKB/Swiss-Prot
  ENST00000647017.1 UniProtKB/Swiss-Prot
  ENST00000647345.1 UniProtKB/Swiss-Prot
Gene3D-CATH 2.60.40.10 UniProtKB/Swiss-Prot
  2.60.40.340 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000100968 GTEx
  ENSG00000285485 GTEx
HGNC ID HGNC:7778 ENTREZGENE
Human Proteome Map NFATC4 Human Proteome Map
InterPro Ig-like_fold UniProtKB/Swiss-Prot
  Ig_E-set UniProtKB/Swiss-Prot
  IPT_dom UniProtKB/Swiss-Prot
  NFAT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  p53-like_TF_DNA-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RHD_dimer UniProtKB/Swiss-Prot
  RHD_DNA_bind_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RHD_DNA_bind_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4776 UniProtKB/Swiss-Prot
NCBI Gene 4776 ENTREZGENE
OMIM 602699 OMIM
PANTHER PTHR12533 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam RHD_dimer UniProtKB/Swiss-Prot
  RHD_DNA_bind UniProtKB/Swiss-Prot
PharmGKB PA31584 PharmGKB
PRINTS NUCFACTORATC UniProtKB/Swiss-Prot
PROSITE REL_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART IPT UniProtKB/Swiss-Prot
Superfamily-SCOP SSF49417 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF81296 UniProtKB/Swiss-Prot
UniProt G3V4K1_HUMAN UniProtKB/TrEMBL
  G3V4U6_HUMAN UniProtKB/TrEMBL
  G3V5H0_HUMAN UniProtKB/TrEMBL
  L0R8A8_HUMAN UniProtKB/TrEMBL
  NFAC4_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q96H68 ENTREZGENE
UniProt Secondary B4DDG5 UniProtKB/Swiss-Prot
  B4DY55 UniProtKB/Swiss-Prot
  B5B2U7 UniProtKB/Swiss-Prot
  B5B2U8 UniProtKB/Swiss-Prot
  B5B2U9 UniProtKB/Swiss-Prot
  B5B2V0 UniProtKB/Swiss-Prot
  B5B2V1 UniProtKB/Swiss-Prot
  B5B2V2 UniProtKB/Swiss-Prot
  B5B2V3 UniProtKB/Swiss-Prot
  B5B2V4 UniProtKB/Swiss-Prot
  B5B2V5 UniProtKB/Swiss-Prot
  B5B2V7 UniProtKB/Swiss-Prot
  B5B2V8 UniProtKB/Swiss-Prot
  B5B2V9 UniProtKB/Swiss-Prot
  B5B2W0 UniProtKB/Swiss-Prot
  B5B2W1 UniProtKB/Swiss-Prot
  B5B2W2 UniProtKB/Swiss-Prot
  B5B2W3 UniProtKB/Swiss-Prot
  B5B2W4 UniProtKB/Swiss-Prot
  B5B2W5 UniProtKB/Swiss-Prot
  B5B2W6 UniProtKB/Swiss-Prot
  B5B2W7 UniProtKB/Swiss-Prot
  B5B2W8 UniProtKB/Swiss-Prot
  B5B2W9 UniProtKB/Swiss-Prot
  B5B2X0 UniProtKB/Swiss-Prot
  Q7Z598 UniProtKB/Swiss-Prot
  Q96H68 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-12-19 NFATC4  nuclear factor of activated T cells 4    nuclear factor of activated T-cells 4  Symbol and/or name change 5135510 APPROVED
2016-03-28 NFATC4  nuclear factor of activated T-cells 4    nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4  Symbol and/or name change 5135510 APPROVED
2011-08-16 NFATC4  nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4  NFATC4  nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4  Symbol and/or name change 5135510 APPROVED