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

Gene ID: 4773, updated on 3-May-2020

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

Genomic context

See NFATC2 in Genome Data Viewer
Location:
20q13.2
Exon count:
13
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (51386963..51562857, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (50003494..50179370, 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

NHGRI GWAS Catalog

Description
A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.
NHGRI GWA Catalog
Cross-Disorder Genome-Wide Analyses Suggest a Complex Genetic Relationship Between Tourette's Syndrome and OCD.
NHGRI GWA Catalog
Genome-wide association study (GWAS) for molar-incisor hypomineralization (MIH).
NHGRI GWA Catalog
Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
NHGRI GWA Catalog

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

Function Evidence Code Pubs
DNA binding TAS
Traceable Author Statement
more info
PubMed 
DNA-binding transcription activator activity, RNA polymerase II-specific IEA
Inferred from Electronic Annotation
more info
 
DNA-binding transcription factor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA-binding transcription factor activity TAS
Traceable Author Statement
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
DNA-binding transcription factor activity, RNA polymerase II-specific ISM
Inferred from Sequence Model
more info
PubMed 
DNA-binding transcription repressor activity, RNA polymerase II-specific IEA
Inferred from Electronic Annotation
more info
 
RNA polymerase II proximal promoter sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
chromatin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphatase binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
transcription factor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
B cell receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
Fc-epsilon receptor signaling pathway TAS
Traceable Author Statement
more info
 
calcineurin-NFAT signaling cascade IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell migration IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to DNA damage stimulus IMP
Inferred from Mutant Phenotype
more info
PubMed 
cytokine production IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
myotube cell development IEA
Inferred from Electronic Annotation
more info
 
negative regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
negative regulation of vascular smooth muscle cell differentiation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of B cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of myoblast fusion IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
regulation of regulatory T cell differentiation TAS
Traceable Author Statement
more info
 
regulation of transcription, DNA-templated TAS
Traceable Author Statement
more info
PubMed 
response to drug IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm TAS
Traceable Author Statement
more info
PubMed 
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
nuclear chromatin ISA
Inferred from Sequence Alignment
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
nucleus TAS
Traceable Author Statement
more info
PubMed 
ribonucleoprotein complex IEA
Inferred from Electronic Annotation
more info
 
transcription factor 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)

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.

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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