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Nfatc1 Gene Detail
Summary
  • Symbol
    Nfatc1
  • Name
    nuclear factor of activated T cells, cytoplasmic, calcineurin dependent 1
  • Synonyms
    2210017P03Rik, NFAT2, NFATc, NF-ATc
  • Feature Type
    protein coding gene
  • IDs
    MGI:102469
    NCBI Gene: 18018
  • Gene Overview
    MyGene.info: NFATC1
  • Alliance
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr18:80606205-80713071 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 18, 53.66 cM, cytoband E4
  • Mapping Data
    7 experiments
Strain
Comparison
more
  • SNPs within 2kb
    869 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 Chr18:80606205-80713071 (-)
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
    10
  • Human Ortholog
    NFATC1, nuclear factor of activated T cells 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    NFAT2, NFATc, NF-ATC, NF-ATc1.2
  • Links
    NCBI Gene ID: 4772
    neXtProt AC: NX_O95644
    UniProt: O95644

  • Chr Location
    18q23; chr18:79395772-79529323 (+)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 32336
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: NFATC1
  • Gene Tree
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    67 phenotypes from 5 alleles in 7 genetic backgrounds
    42 phenotypes from multigenic genotypes
    87 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
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.
Gene Ontology
(GO)
Classifications
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  • 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 death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 18018 NCBI Gene Model | MGI Sequence Detail 106867 C57BL/6J ±  kb
    transcript NM_001164110 RefSeq | MGI Sequence Detail 4896 C57BL/6  
    polypeptide O88942 UniProt | EBI | MGI Sequence Detail 717 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      9 Sequences
    • InterPro Domains
      IPR014756 Immunoglobulin E-set
      IPR013783 Immunoglobulin-like fold
      IPR002909 IPT domain
      IPR015647 Nuclear factor of activated T-cells 1
      IPR008366 Nuclear factor of activated T cells (NFAT)
      IPR008967 p53-like transcription factor, DNA-binding
      IPR032397 Rel homology dimerisation domain
      IPR011539 Rel homology domain (RHD), DNA-binding domain
      IPR037059 Rel homology domain (RHD), DNA-binding domain superfamily
    Molecular
    Reagents
    less
    • All nucleic 63
      Genomic 2
      cDNA 55
      Primer pair 5
      Other 1

      Microarray probesets 8
    Other
    Accession IDs
    less
    MGD-MRK-19306, MGI:1919614, MGI:2147226, MGI:2147334
    References
    more
    • Summaries
      All 308
      Developmental Gene Expression 88
      Gene Ontology 42
      Phenotypes 87
    • 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:265181 Kim BJ, et al., RERE deficiency leads to decreased expression of GATA4 and the development of ventricular septal defects. Dis Model Mech. 2018 Aug 28;11(9)

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    11/06/2018
    MGI 6.13
    The Jackson Laboratory