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Nfatc1 Gene 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
    gene page
  • Transcription Start Sites
    12 TSS
Location &
Maps
more
  • Sequence Map
    Chr18:80649420-80756286 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 18, 53.66 cM, cytoband E4
  • Mapping Data
    7 experiments
Strain
Comparison
more
  • SNPs within 2kb
    3197 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_102469
 protein coding gene Chr18:80649418-80756286 (-)
129S1/SvImJ MGP_129S1SvImJ_G0024597
 protein coding gene Chr18:81530406-81638403 (-)
A/J MGP_AJ_G0024564
 protein coding gene Chr18:77961796-78070099 (-)
AKR/J MGP_AKRJ_G0024535
 protein coding gene Chr18:80291664-80398863 (-)
BALB/cJ MGP_BALBcJ_G0024562
 protein coding gene Chr18:78147523-78254648 (-)
C3H/HeJ MGP_C3HHeJ_G0024331
 protein coding gene Chr18:80377860-80487309 (-)
C57BL/6NJ MGP_C57BL6NJ_G0025009
 protein coding gene Chr18:83618071-83726220 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0022440
 protein coding gene Chr18:76811908-76918393 (-)
CAST/EiJ MGP_CASTEiJ_G0023804
 protein coding gene Chr18:80713415-80823318 (-)
CBA/J MGP_CBAJ_G0024301
 protein coding gene Chr18:86661973-86773378 (-)
DBA/2J MGP_DBA2J_G0024431
 protein coding gene Chr18:77509387-77620694 (-)
FVB/NJ MGP_FVBNJ_G0024397
 protein coding gene Chr18:76826277-76933865 (-)
LP/J MGP_LPJ_G0024515
 protein coding gene Chr18:81394122-81504216 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0024427
 protein coding gene Chr18:87912548-88021949 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0025058
 protein coding gene Chr18:80434824-80546828 (-)
PWK/PhJ MGP_PWKPhJ_G0023549
 protein coding gene Chr18:77908358-78016017 (-)
SPRET/EiJ MGP_SPRETEiJ_G0023355
 protein coding gene Chr18:80612785-80725329 (-)
WSB/EiJ MGP_WSBEiJ_G0023866
 protein coding gene Chr18:80388997-80496949 (-)



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
    neXtProt AC: NX_O95644
    UniProt: O95644

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

Human Disease Mouse Models
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    80 phenotypes from 7 alleles in 9 genetic backgrounds
    62 phenotypes from multigenic genotypes
    151 phenotype references
Phenotype Overview

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
    77
  • GO References
    47
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

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
    949
  • Tissues
    157
  • cDNA Data
    56
  • Literature Summary
    114
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000033016 Ensembl Gene Model | MGI Sequence Detail 106867 C57BL/6J ±  kb
    transcript ENSMUST00000170905 Ensembl | MGI Sequence Detail 4591 Not Applicable  
    polypeptide ENSMUSP00000129001 Ensembl | MGI Sequence Detail 939 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      9 Sequences
    • Protein Ontology
      PR:000003113 nuclear factor of activated T-cells, cytoplasmic 1
      (term hierarchy)
    • 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 2 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 73
      Genomic 2
      cDNA 57
      Primer pair 12
      Other 2

      Microarray probesets 8
    Other
    Accession IDs
    less
    MGD-MRK-19306, MGI:1919614, MGI:2147226, MGI:2147334
    References
    more
    • Summaries
      All 414
      Developmental Gene Expression 114
      Diseases 1
      Gene Ontology 47
      Phenotypes 151
    • 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:348314 Jang J, et al., Endocardial HDAC3 is required for myocardial trabeculation. Nat Commun. 2024 May 16;15(1):4166
    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)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory