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    NFATC2 nuclear factor of activated T cells 2 [ Homo sapiens (human) ]

    Gene ID: 4773, updated on 22-Aug-2021

    Summary

    Official Symbol
    NFATC2provided by HGNC
    Official Full Name
    nuclear factor of activated T cells 2provided by HGNC
    Primary source
    HGNC:HGNC:7776
    See related
    Ensembl:ENSG00000101096 MIM:600490
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    NFAT1; NFATP
    Summary
    This gene is a member of the nuclear factor of activated T cells (NFAT) family. The product of this gene is a DNA-binding protein with a REL-homology region (RHR) and an NFAT-homology region (NHR). This protein is present in the cytosol and only translocates to the nucleus upon T cell receptor (TCR) stimulation, where it becomes a member of the nuclear factors of activated T cells transcription complex. This complex plays a central role in inducing gene transcription during the immune response. Alternate transcriptional splice variants encoding different isoforms have been characterized. [provided by RefSeq, Apr 2012]
    Expression
    Broad expression in gall bladder (RPKM 9.1), lymph node (RPKM 6.9) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See NFATC2 in Genome Data Viewer
    Location:
    20q13.2
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (51386963..51562857, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (50003500..50179378, complement)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372662 Neighboring gene uncharacterized LOC105372661 Neighboring gene ribosomal protein SA pseudogene 1 Neighboring gene uncharacterized LOC105372663 Neighboring gene microRNA 3194 Neighboring gene ATPase phospholipid transporting 9A (putative) Neighboring gene ribosomal protein L29 pseudogene Neighboring gene spalt like transcription factor 4

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.
    GeneReviews: Not available
    Cross-Disorder Genome-Wide Analyses Suggest a Complex Genetic Relationship Between Tourette's Syndrome and OCD.
    GeneReviews: Not available
    Genome-wide association study (GWAS) for molar-incisor hypomineralization (MIH).
    GeneReviews: Not available
    Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
    GeneReviews: Not available

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 gp120 and anti-CD4 antibodies induce a specific, significant decrease in the binding activity of NF-AT, NF-kappa B and AP-1, which leads to an inhibition of IL-2 production and cell proliferation PubMed
    env Using either anti-CD4 monoclonal antibodies or HIV-1 gp120 binding to CD4 reveals a common epitope-specific activation of both the HIV-1 LTR and of the transcription factors NF-kappa B and NF-AT PubMed
    Nef nef HIV-1 Vpu downregulates NRON levels but HIV-1 Nef upregulates NRON levels in Jurkat cells, leading to reciprocal regulation in NFAT activity through NRON by Vpu and Nef PubMed
    nef The induction of NFAT1 and NFAT2 is impaired by HIV-1 Nef in sub-optimally activated/resting T cells PubMed
    nef HIV-1 Nef super induces the transcription factors NFAT1 and NFAT2 during activation of HIV-infected quiescent T cells PubMed
    Tat tat The transcription factors NF-KappaB and NF-AT contribute to the Tat-induced activation of the HERV-K (HML-2) gag RNA transcripts in Jurkat T cells and in primary lymphocytes PubMed
    tat Transcription factors NFAT and AP-1 (c-Jun/c-Fos) are required for HIV-1 Tat-induced upregulation of COX-2 PubMed
    tat HIV-1 Tat expression in Jurkat T cells enhances cooperative NFAT/AP-1- but not AP-1-dependent transcription independent of its ability to transactivate the HIV-1 LTR PubMed
    tat NFAT1 inhibits Tat-mediated transactivation of the HIV-1 LTR promoter through a direct binding interaction between the two proteins PubMed
    tat HIV-1 Tat enhances NFAT1-driven transcription in Jurkat T cells through a direct protein-protein interaction between the two proteins PubMed
    tat Induction of TNF-alpha by HIV-1 Tat is inhibited by cyclosporin A, an inhibitor of calcineurin that acts by preventing the dephosphorylation of NF-AT PubMed
    tat HIV-1 Tat upregulation of the IL-2 promoter maps to the NFAT motif of the IL-2 enhancer, suggesting Tat-mediated enhancement of NFAT1 transactivation may explain the upregulation of IL-2 that occurs during HIV-1 infection PubMed
    tat HIV-1 Tat binds to NFAT1, an interaction mediated by the N-terminus of Tat (amino acids 1-26) and the transactivation domain of NFAT1 (amino acids 1-96) PubMed
    Vpr vpr HIV-1 Vpr upregulates NFAT-directed gene expression PubMed
    Vpu vpu HIV-1 Vpu downregulates NRON levels but HIV-1 Nef upregulates NRON levels in Jurkat cells, leading to reciprocal regulation in NFAT activity through NRON by Vpu and Nef PubMed
    reverse transcriptase gag-pol NFATc facilitates HIV-1 RT reverse transcription activity and enhances HIV-1 infectivity in human T cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in B cell receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in calcineurin-NFAT signaling cascade IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in cell migration IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to DNA damage stimulus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cytokine production IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in myotube cell development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of vascular associated smooth muscle cell differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of B cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of myoblast fusion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within positive regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in regulation of transcription, DNA-templated TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in response to xenobiotic stimulus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus TAS
    Traceable Author Statement
    more info
    PubMed 
    part_of ribonucleoprotein complex IEA
    Inferred from Electronic Annotation
    more info
     
    part_of transcription regulator complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    Preferred Names
    nuclear factor of activated T-cells, cytoplasmic 2
    Names
    NF-ATc2
    NFAT pre-existing subunit
    NFAT transcription complex, preexisting component
    T cell transcription factor NFAT1
    nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2
    nuclear factor of activated T-cells, preexisting component
    preexisting nuclear factor of activated T-cells 2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001136021.3NP_001129493.1  nuclear factor of activated T-cells, cytoplasmic 2 isoform D

      See identical proteins and their annotated locations for NP_001129493.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate first exon and contains an alternate exon in the 3' end compared to variant 2, that causes a frameshift. The resulting isoform (D) has shorter and distinct N- and C-termini compared to isoform C.
      Source sequence(s)
      AK226146, AL035682, AL035684, BE674599, EU887574
      Consensus CDS
      CCDS46614.1
      UniProtKB/Swiss-Prot
      Q13469
      Related
      ENSP00000396471.1, ENST00000414705.5
      Conserved Domains (2) summary
      cd07881
      Location:378552
      RHD-n_NFAT; N-terminal sub-domain of the Rel homology domain (RHD) of nuclear factor of activated T-cells (NFAT) proteins
      cd01178
      Location:557657
      IPT_NFAT; IPT domain of the NFAT family of transcription factors. NFAT transcription complexes are a target of calcineurin, a calcium dependent phosphatase, and activate genes mainly involved in cell-cell-interaction.
    2. NM_001258292.2NP_001245221.1  nuclear factor of activated T-cells, cytoplasmic 2 isoform E

      See identical proteins and their annotated locations for NP_001245221.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate first exon compared to variant 2. The resulting isoform (E) has a shorter and distinct N-terminus compared to isoform C.
      Source sequence(s)
      AK226146, AL035682, AL035684, BE674599
      Consensus CDS
      CCDS68157.1
      UniProtKB/Swiss-Prot
      Q13469
      Related
      ENSP00000477370.1, ENST00000609943.5
      Conserved Domains (2) summary
      cd07881
      Location:378552
      RHD-n_NFAT; N-terminal sub-domain of the Rel homology domain (RHD) of nuclear factor of activated T-cells (NFAT) proteins
      cd01178
      Location:557657
      IPT_NFAT; IPT domain of the NFAT family of transcription factors. NFAT transcription complexes are a target of calcineurin, a calcium dependent phosphatase, and activate genes mainly involved in cell-cell-interaction.
    3. NM_001258294.2NP_001245223.1  nuclear factor of activated T-cells, cytoplasmic 2 isoform F

      See identical proteins and their annotated locations for NP_001245223.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) has an alternate first exon, an alternate exon in the 3' end, and uses an alternate splice junction at the 5' end of a coding exon compared to variant 2. The resulting isoform (F) is shorter at the N-terminus and has a shorter and distinct C-terminus compared to isoform C. Variants 5 and 7 both encode the same isoform (F).
      Source sequence(s)
      AL035682, AL035684, BE674599, EU887575
      Consensus CDS
      CCDS68156.1
      UniProtKB/Swiss-Prot
      Q13469
      Related
      ENSP00000477342.1, ENST00000609507.1
      Conserved Domains (2) summary
      cd07881
      Location:179353
      RHD-n_NFAT; N-terminal sub-domain of the Rel homology domain (RHD) of nuclear factor of activated T-cells (NFAT) proteins
      cd01178
      Location:358458
      IPT_NFAT; IPT domain of the NFAT family of transcription factors. NFAT transcription complexes are a target of calcineurin, a calcium dependent phosphatase, and activate genes mainly involved in cell-cell-interaction.
    4. NM_001258295.2NP_001245224.1  nuclear factor of activated T-cells, cytoplasmic 2 isoform G

      See identical proteins and their annotated locations for NP_001245224.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) has an alternate first exon and uses an alternate splice junction at the 5' end of a coding exon compared to variant 2. The resulting isoform (G) is shorter at the N-terminus compared to isoform C. Variants 6 and 8 both encode the same isoform (G).
      Source sequence(s)
      AL035682, AL035684, BE674599, EU887579
      UniProtKB/TrEMBL
      B5B2P4
      Conserved Domains (2) summary
      cd07881
      Location:179353
      RHD-n_NFAT; N-terminal sub-domain of the Rel homology domain (RHD) of nuclear factor of activated T-cells (NFAT) proteins
      cd01178
      Location:358458
      IPT_NFAT; IPT domain of the NFAT family of transcription factors. NFAT transcription complexes are a target of calcineurin, a calcium dependent phosphatase, and activate genes mainly involved in cell-cell-interaction.
    5. NM_001258296.2NP_001245225.1  nuclear factor of activated T-cells, cytoplasmic 2 isoform F

      See identical proteins and their annotated locations for NP_001245225.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) uses an alternate splice junction at the 5' end of a coding exon and contains an alternate exon in the 3' end compared to variant 2, that causes a frameshift. The resulting isoform (F) is shorter at the N-terminus and has a shorter and distinct C-terminus compared to isoform C. Variants 5 and 7 both encode the same isoform (F).
      Source sequence(s)
      AL035682, BE674599, EU887576
      Consensus CDS
      CCDS68156.1
      UniProtKB/Swiss-Prot
      Q13469
      Related
      ENSP00000477142.1, ENST00000610033.5
      Conserved Domains (2) summary
      cd07881
      Location:179353
      RHD-n_NFAT; N-terminal sub-domain of the Rel homology domain (RHD) of nuclear factor of activated T-cells (NFAT) proteins
      cd01178
      Location:358458
      IPT_NFAT; IPT domain of the NFAT family of transcription factors. NFAT transcription complexes are a target of calcineurin, a calcium dependent phosphatase, and activate genes mainly involved in cell-cell-interaction.
    6. NM_001258297.2NP_001245226.1  nuclear factor of activated T-cells, cytoplasmic 2 isoform G

      See identical proteins and their annotated locations for NP_001245226.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) uses an alternate splice junction at the 5' end of a coding exon compared to variant 2. The resulting isoform (G) is shorter at the N-terminus compared to isoform C. Variants 6 and 8 both encode the same isoform (G).
      Source sequence(s)
      AL035682, BE674599, EU887580
      UniProtKB/TrEMBL
      B5B2P4
      Conserved Domains (2) summary
      cd07881
      Location:179353
      RHD-n_NFAT; N-terminal sub-domain of the Rel homology domain (RHD) of nuclear factor of activated T-cells (NFAT) proteins
      cd01178
      Location:358458
      IPT_NFAT; IPT domain of the NFAT family of transcription factors. NFAT transcription complexes are a target of calcineurin, a calcium dependent phosphatase, and activate genes mainly involved in cell-cell-interaction.
    7. NM_012340.5NP_036472.2  nuclear factor of activated T-cells, cytoplasmic 2 isoform B

      See identical proteins and their annotated locations for NP_036472.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) contains an alternate exon in the 3' end compared to variant 2, that causes a frameshift. The resulting isoform (B) has a shorter and distinct C-terminus compared to isoform C.
      Source sequence(s)
      AL035682, BE674599, EU887573, EU887576
      Consensus CDS
      CCDS33488.1
      UniProtKB/Swiss-Prot
      Q13469
      Related
      ENSP00000360619.3, ENST00000371564.8
      Conserved Domains (2) summary
      cd07881
      Location:398572
      RHD-n_NFAT; N-terminal sub-domain of the Rel homology domain (RHD) of nuclear factor of activated T-cells (NFAT) proteins
      cd01178
      Location:577677
      IPT_NFAT; IPT domain of the NFAT family of transcription factors. NFAT transcription complexes are a target of calcineurin, a calcium dependent phosphatase, and activate genes mainly involved in cell-cell-interaction.
    8. NM_173091.4NP_775114.1  nuclear factor of activated T-cells, cytoplasmic 2 isoform C

      See identical proteins and their annotated locations for NP_775114.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) encodes the longest isoform (C).
      Source sequence(s)
      AL035682, BE674599, EU887576, EU887578
      Consensus CDS
      CCDS13437.1
      UniProtKB/Swiss-Prot
      Q13469
      Related
      ENSP00000379330.3, ENST00000396009.7
      Conserved Domains (2) summary
      cd07881
      Location:398572
      RHD-n_NFAT; N-terminal sub-domain of the Rel homology domain (RHD) of nuclear factor of activated T-cells (NFAT) proteins
      cd01178
      Location:577677
      IPT_NFAT; IPT domain of the NFAT family of transcription factors. NFAT transcription complexes are a target of calcineurin, a calcium dependent phosphatase, and activate genes mainly involved in cell-cell-interaction.

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

      Range
      51386963..51562857 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017027851.1XP_016883340.1  nuclear factor of activated T-cells, cytoplasmic 2 isoform X4

    2. XM_011528825.2XP_011527127.1  nuclear factor of activated T-cells, cytoplasmic 2 isoform X2

      Conserved Domains (2) summary
      cd07881
      Location:378552
      RHD-n_NFAT; N-terminal sub-domain of the Rel homology domain (RHD) of nuclear factor of activated T-cells (NFAT) proteins
      cd01178
      Location:557657
      IPT_NFAT; IPT domain of the NFAT family of transcription factors. NFAT transcription complexes are a target of calcineurin, a calcium dependent phosphatase, and activate genes mainly involved in cell-cell-interaction.
    3. XM_011528824.2XP_011527126.1  nuclear factor of activated T-cells, cytoplasmic 2 isoform X1

      Conserved Domains (2) summary
      cd07881
      Location:398572
      RHD-n_NFAT; N-terminal sub-domain of the Rel homology domain (RHD) of nuclear factor of activated T-cells (NFAT) proteins
      cd01178
      Location:577677
      IPT_NFAT; IPT domain of the NFAT family of transcription factors. NFAT transcription complexes are a target of calcineurin, a calcium dependent phosphatase, and activate genes mainly involved in cell-cell-interaction.
    4. XM_011528826.2XP_011527128.1  nuclear factor of activated T-cells, cytoplasmic 2 isoform X3

      Conserved Domains (2) summary
      cd07881
      Location:179353
      RHD-n_NFAT; N-terminal sub-domain of the Rel homology domain (RHD) of nuclear factor of activated T-cells (NFAT) proteins
      cd01178
      Location:358458
      IPT_NFAT; IPT domain of the NFAT family of transcription factors. NFAT transcription complexes are a target of calcineurin, a calcium dependent phosphatase, and activate genes mainly involved in cell-cell-interaction.
    5. XM_017027850.1XP_016883339.1  nuclear factor of activated T-cells, cytoplasmic 2 isoform X3

      Conserved Domains (2) summary
      cd07881
      Location:179353
      RHD-n_NFAT; N-terminal sub-domain of the Rel homology domain (RHD) of nuclear factor of activated T-cells (NFAT) proteins
      cd01178
      Location:358458
      IPT_NFAT; IPT domain of the NFAT family of transcription factors. NFAT transcription complexes are a target of calcineurin, a calcium dependent phosphatase, and activate genes mainly involved in cell-cell-interaction.
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