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    NFATC4 nuclear factor of activated T cells 4 [ Homo sapiens (human) ]

    Gene ID: 4776, updated on 17-Jun-2024

    Summary

    Official Symbol
    NFATC4provided by HGNC
    Official Full Name
    nuclear factor of activated T cells 4provided by HGNC
    Primary source
    HGNC:HGNC:7778
    See related
    Ensembl:ENSG00000100968 MIM:602699; AllianceGenome:HGNC:7778
    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
    NFAT3; NF-AT3; NF-ATC4
    Summary
    This gene encodes a member of the nuclear factor of activated T cells (NFAT) protein family. The encoded protein is part of a DNA-binding transcription complex. This complex consists of at least two components: a preexisting cytosolic component that translocates to the nucleus upon T cell receptor stimulation and an inducible nuclear component. NFAT proteins are activated by the calmodulin-dependent phosphatase, calcineurin. The encoded protein plays a role in the inducible expression of cytokine genes in T cells, especially in the induction of interleukin-2 and interleukin-4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
    Expression
    Broad expression in ovary (RPKM 15.2), endometrium (RPKM 13.8) and 22 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See NFATC4 in Genome Data Viewer
    Location:
    14q12
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (24366911..24379604)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (18565666..18578358)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (24836117..24848810)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 10023 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8214 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8215 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8216 Neighboring gene receptor interacting serine/threonine kinase 3 Neighboring gene uncharacterized LOC124903413 Neighboring gene uncharacterized LOC124903291 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5640 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5641 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:24839191-24840034 Neighboring gene uncharacterized LOC124903292 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5642 Neighboring gene NYN domain and retroviral integrase containing

    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

    EBI GWAS Catalog

    Description
    Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
    EBI GWAS Catalog
    Hundreds of variants clustered in genomic loci and biological pathways affect human height.
    EBI GWAS 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
    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 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 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 HIV-1 Tat enhances IL-2 promoter activity through synergism with phorbol ester and calcium-mediated activation of the NF-AT cis-regulatory motif 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

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in brain-derived neurotrophic factor receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in branching involved in blood vessel morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in calcineurin-NFAT signaling cascade IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cellular respiration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to UV IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to lithium ion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cytokine production IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in dendrite morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in heart development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in inflammatory response TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in intrinsic apoptotic signaling pathway in response to DNA damage IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in long-term memory ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in long-term synaptic potentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of Wnt signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of dendrite morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of miRNA transcription IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in negative regulation of neuron apoptotic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of synapse maturation 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 neuron apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of apoptotic signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of neuron apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of tumor necrosis factor production IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in synapse maturation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in vascular associated smooth muscle cell development IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    part_of chromatin ISA
    Inferred from Sequence Alignment
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in nuclear speck IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of transcription regulator complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    nuclear factor of activated T-cells, cytoplasmic 4
    Names
    T-cell transcription factor NFAT3
    nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4

    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_001136022.3NP_001129494.1  nuclear factor of activated T-cells, cytoplasmic 4 isoform 1

      See identical proteins and their annotated locations for NP_001129494.1

      Status: REVIEWED

      Source sequence(s)
      BC053855, DC403050, EU887634
      Consensus CDS
      CCDS45089.1
      UniProtKB/Swiss-Prot
      Q14934
      Related
      ENSP00000388910.2, ENST00000413692.6
      Conserved Domains (2) summary
      cd07881
      Location:470643
      RHD-n_NFAT; N-terminal sub-domain of the Rel homology domain (RHD) of nuclear factor of activated T-cells (NFAT) proteins
      cd01178
      Location:648748
      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_001198965.2NP_001185894.1  nuclear factor of activated T-cells, cytoplasmic 4 isoform 3

      See identical proteins and their annotated locations for NP_001185894.1

      Status: REVIEWED

      Source sequence(s)
      BC053855, DC318153, EU887634, EU887642
      Consensus CDS
      CCDS55910.1
      UniProtKB/Swiss-Prot
      Q14934
      Related
      ENSP00000451151.1, ENST00000554050.5
      Conserved Domains (2) summary
      cd07881
      Location:407580
      RHD-n_NFAT; N-terminal sub-domain of the Rel homology domain (RHD) of nuclear factor of activated T-cells (NFAT) proteins
      cd01178
      Location:585685
      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_001198966.2NP_001185895.1  nuclear factor of activated T-cells, cytoplasmic 4 isoform 4

      See identical proteins and their annotated locations for NP_001185895.1

      Status: REVIEWED

      Source sequence(s)
      AK302271, BC053855, BG723088, EU887632, EU887634
      Consensus CDS
      CCDS55911.1
      UniProtKB/Swiss-Prot
      Q14934
      Related
      ENSP00000452349.1, ENST00000553879.5
      Conserved Domains (2) summary
      cd07881
      Location:337510
      RHD-n_NFAT; N-terminal sub-domain of the Rel homology domain (RHD) of nuclear factor of activated T-cells (NFAT) proteins
      cd01178
      Location:515615
      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_001198967.3NP_001185896.1  nuclear factor of activated T-cells, cytoplasmic 4 isoform 5

      See identical proteins and their annotated locations for NP_001185896.1

      Status: REVIEWED

      Source sequence(s)
      BC053855, DC403050, EU887633, EU887640
      Consensus CDS
      CCDS55909.1
      UniProtKB/Swiss-Prot
      Q14934
      Related
      ENSP00000452039.1, ENST00000554591.5
      Conserved Domains (2) summary
      cd07881
      Location:470643
      RHD-n_NFAT; N-terminal sub-domain of the Rel homology domain (RHD) of nuclear factor of activated T-cells (NFAT) proteins
      cd01178
      Location:648748
      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_001288802.2NP_001275731.1  nuclear factor of activated T-cells, cytoplasmic 4 isoform 6

      See identical proteins and their annotated locations for NP_001275731.1

      Status: REVIEWED

      Source sequence(s)
      AK310433, AL096870, BC053855, EU887634
      Consensus CDS
      CCDS73625.1
      UniProtKB/Swiss-Prot
      Q14934
      Related
      ENSP00000396788.3, ENST00000422617.7
      Conserved Domains (2) summary
      cd07881
      Location:395568
      RHD-n_NFAT; N-terminal sub-domain of the Rel homology domain (RHD) of nuclear factor of activated T-cells (NFAT) proteins
      cd01178
      Location:573673
      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_001320043.2NP_001306972.1  nuclear factor of activated T-cells, cytoplasmic 4 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AL096870, BC008857, BC053855, DC403050, EU887632
      UniProtKB/Swiss-Prot
      Q14934
      Conserved Domains (2) summary
      cd07881
      Location:470643
      RHD-n_NFAT; N-terminal sub-domain of the Rel homology domain (RHD) of nuclear factor of activated T-cells (NFAT) proteins
      cd01178
      Location:648748
      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_001363681.1NP_001350610.1  nuclear factor of activated T-cells, cytoplasmic 4 isoform 8

      Status: REVIEWED

      Source sequence(s)
      AL096870, EU887644
      Consensus CDS
      CCDS86380.1
      Related
      ENSP00000450686.1, ENST00000555453.5
      Conserved Domains (3) summary
      cd07881
      Location:395568
      RHD-n_NFAT; N-terminal sub-domain of the Rel homology domain (RHD) of nuclear factor of activated T-cells (NFAT) proteins
      cd01178
      Location:573673
      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.
      cl26464
      Location:202401
      Atrophin-1; Atrophin-1 family
    8. NM_001363682.1NP_001350611.1  nuclear factor of activated T-cells, cytoplasmic 4 isoform 9

      Status: REVIEWED

      Source sequence(s)
      AL096870, EU887645
      Consensus CDS
      CCDS86379.1
      Related
      ENSP00000451454.1, ENST00000556169.5
      Conserved Domains (3) summary
      cd07881
      Location:395568
      RHD-n_NFAT; N-terminal sub-domain of the Rel homology domain (RHD) of nuclear factor of activated T-cells (NFAT) proteins
      cd01178
      Location:573673
      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.
      cl26464
      Location:202401
      Atrophin-1; Atrophin-1 family
    9. NM_004554.5NP_004545.2  nuclear factor of activated T-cells, cytoplasmic 4 isoform 2

      See identical proteins and their annotated locations for NP_004545.2

      Status: REVIEWED

      Source sequence(s)
      BC008857, BC053855, DB372155, DC318153
      Consensus CDS
      CCDS9629.1
      UniProtKB/Swiss-Prot
      B4DDG5, B4DY55, B5B2U7, B5B2U8, B5B2U9, B5B2V0, B5B2V1, B5B2V2, B5B2V3, B5B2V4, B5B2V5, B5B2V7, B5B2V8, B5B2V9, B5B2W0, B5B2W1, B5B2W2, B5B2W3, B5B2W4, B5B2W5, B5B2W6, B5B2W7, B5B2W8, B5B2W9, B5B2X0, Q14934, Q7Z598, Q96H68
      Related
      ENSP00000250373.4, ENST00000250373.9
      Conserved Domains (2) summary
      cd07881
      Location:407580
      RHD-n_NFAT; N-terminal sub-domain of the Rel homology domain (RHD) of nuclear factor of activated T-cells (NFAT) proteins
      cd01178
      Location:585685
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      24366911..24379604
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_018654722.1 Reference GRCh38.p14 PATCHES

      Range
      667889..680582
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      18565666..18578358
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)