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Nfatc1Gene Detail
Summary
  • Symbol
    Nfatc1
  • Name
    nuclear factor of activated T cells, cytoplasmic, calcineurin dependent 1
  • Synonyms
    2210017P03Rik, NFAT2, NF-ATc, NFATc
  • Feature Type
    protein coding gene
  • IDs
    MGI:102469
    NCBI Gene:18018
  • Alliance
  • Transcription Start Sites
    12 TSS
  • Regulated by
    Rr345(1 regulatory region)
Location &
Maps
more
  • Sequence Map
    Chr18:80649420-80756286 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region inJBrowse
  • Genome Browsers
  • Genetic Map
    Chromosome 18, 53.66 cM, cytoband E4
  • Mapping Data
    7 experiments
Strain
Comparison
more
  • SNPs within 2kb
    3301from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
StrainGene Model IDFeature TypeCoordinatesSelect Strains
C57BL/6JMGI_C57BL6J_102469
protein coding geneChr18:80649418-80756286 (-)
129S1/SvImJMGP_129S1SvImJ_G0024597
protein coding geneChr18:81530406-81638403 (-)
A/JMGP_AJ_G0024564
protein coding geneChr18:77961796-78070099 (-)
AKR/JMGP_AKRJ_G0024535
protein coding geneChr18:80291664-80398863 (-)
BALB/cJMGP_BALBcJ_G0024562
protein coding geneChr18:78147523-78254648 (-)
C3H/HeJMGP_C3HHeJ_G0024331
protein coding geneChr18:80377860-80487309 (-)
C57BL/6NJMGP_C57BL6NJ_G0025009
protein coding geneChr18:83618071-83726220 (-)
CAROLI/EiJMGP_CAROLIEiJ_G0022440
protein coding geneChr18:76811908-76918393 (-)
CAST/EiJMGP_CASTEiJ_G0023804
protein coding geneChr18:80713415-80823318 (-)
CBA/JMGP_CBAJ_G0024301
protein coding geneChr18:86661973-86773378 (-)
DBA/2JMGP_DBA2J_G0024431
protein coding geneChr18:77509387-77620694 (-)
FVB/NJMGP_FVBNJ_G0024397
protein coding geneChr18:76826277-76933865 (-)
LP/JMGP_LPJ_G0024515
protein coding geneChr18:81394122-81504216 (-)
NOD/ShiLtJMGP_NODShiLtJ_G0024427
protein coding geneChr18:87912548-88021949 (-)
NZO/HlLtJMGP_NZOHlLtJ_G0025058
protein coding geneChr18:80434824-80546828 (-)
PWK/PhJMGP_PWKPhJ_G0023549
protein coding geneChr18:77908358-78016017 (-)
SPRET/EiJMGP_SPRETEiJ_G0023355
protein coding geneChr18:80612785-80725329 (-)
WSB/EiJMGP_WSBEiJ_G0023866
protein coding geneChr18:80388997-80496949 (-)



Homology
more
  • Human Ortholog
    NFATC1, nuclear factor of activated T cells 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    NFATC1,nuclear factor of activated T cells 1
  • Synonyms
    NFAT2, NFATc, NF-ATC, NF-ATc1.2
  • Links
    NCBI Gene ID:4772
    UniProt:O95644

  • Chr Location
    18q23; chr18:79395856-79529325(+)  GRCh38
Human Diseases
more
  • Diseases
    2 with human NFATC1 associations

Human DiseaseMouse Models
    
IDs
congenital heart disease      

DOID:1682
ICD10CM:Q24.9
ICD9CM:746.9
MESH:D006330
NCI:C34666
UMLS_CUI:C0018798

IDs
ventricular septal defect      

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    79 phenotypesfrom 7 allelesin 9 genetic backgrounds
    62 phenotypes from multigenic genotypes
    155 phenotype references
Phenotype Overview

Phenotype Overview
Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.
adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Homozygous mutation of this gene results in lethality throughout fetal growth and development due to cardiac failure. Mutants exhibit blood circulation, cardiac valve and ventricular septal abnormalities, edema, abdominal hemorrhage, and semilunar valveregurgitation. Homozygosity for sumoylation-blocking mutations leads to increased resistance to autoimmunity and alloreactivity.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

Expression Overview
GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.
  • Blue cells = expressed in wild-type.
    Gray triangles = other expression annotations only
    (e.g. absence of expression or data from mutants).
early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomicENSMUSG00000033016Ensembl Gene Model |MGI Sequence Detail106867C57BL/6J± kb
transcriptENSMUST00000170905Ensembl |MGI Sequence Detail4591Not Applicable 
polypeptideENSMUSP00000129001Ensembl |MGI Sequence Detail939Not Applicable 
For the selected sequence
Protein
Information
less
  • UniProt
    9 Sequences
  • Protein Ontology
    PR:000003113 nuclear factor of activated T-cells, cytoplasmic 1
  • InterPro Domains
    IPR014756 Immunoglobulin E-set
    IPR013783 Immunoglobulin-like fold
    IPR002909 IPT domain
    IPR008366 Nuclear factor of activated T cells (NFAT)
    IPR008967 p53-like transcription factor, DNA-binding domain superfamily
    IPR032397 Rel homology dimerisation domain
    IPR011539 Rel homology domain, DNA-binding domain
    IPR037059 Rel homology domain (RHD), DNA-binding domain superfamily
  • GlyGen
    O88942 1 site, 1 O-linked glycan (1 site)
Molecular
Reagents
less
  • All nucleic74
    Genomic2
    cDNA57
    Primer pair13
    Other2

    Microarray probesets8
Other
Accession IDs
less
MGD-MRK-19306, MGI:1919614, MGI:2147226, MGI:2147334
References
more
  • Summaries
    All422
    Developmental Gene Expression114
    Diseases1
    Gene Ontology35
    Phenotypes155
  • Earliest
    J:22229 Li X, et al., Cloning and chromosomal localization of the human and murine genes for the T-cell transcription factors NFATc and NFATp. Cytogenet Cell Genet. 1995;68(3-4):185-91
  • Latest
    J:361578 Feng W, et al., Deficiency of Sox7 leads to congenital aortic stenosis via abnormal valve remodeling. J Mol Cell Cardiol. 2025 Feb;199:81-94
Nfatc1 expression regulated by:
FeatureFeature TypeLocationReference
Rr345, regulatory region 345enhancerChr18:80654741-80656025J:332728
TSS for Nfatc1:
(View these features inJBrowse)
Transcription Start SiteLocationDistance from Gene 5'-end
Tssr154045Chr18:80756786-80756805 (-)-510 bp
Tssr154044Chr18:80756277-80756295 (-)0 bp
Tssr154043Chr18:80751399-80751409 (-)4,882 bp
Tssr154042Chr18:80751330-80751395 (-)4,923 bp
Tssr154041Chr18:80751299-80751306 (-)4,983 bp
Tssr154040Chr18:80741605-80741617 (-)14,675 bp
Tssr154039Chr18:80741387-80741405 (-)14,890 bp
Tssr154038Chr18:80717071-80717075 (-)39,213 bp
Tssr154037Chr18:80654924-80654930 (-)101,359 bp
Tssr154036Chr18:80654408-80654436 (-)101,864 bp
Tssr154035Chr18:80652926-80652938 (-)103,354 bp
Tssr154034Chr18:80651674-80651693 (-)104,602 bp
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
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Send questions and comments to User Support.		 last database update
03/25/2025
MGI 6.24		The Jackson Laboratory
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