NFATC2

Nuclear factor of activated T-cells, cytoplasmic 2 is a protein that in humans is encoded by the NFATC2 gene.^[5]

NFATC2
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1A02, 1OWR, 1P7H, 1PZU, 2AS5, 2O93, 3QRF
Identifiers
Aliases	NFATC2, NFAT1, NFATP, nuclear factor of activated T-cells 2, nuclear factor of activated T cells 2
External IDs	OMIM: 600490; MGI: 102463; HomoloGene: 7861; GeneCards: NFATC2; OMA:NFATC2 - orthologs
Gene location (Human) Chr. Chromosome 20 (human)[1] Band 20q13.2 Start 51,386,957 bp[1] End 51,562,831 bp[1]
Gene location (Mouse) Chr. Chromosome 2 (mouse)[2] Band 2 H3|2 88.91 cM Start 168,318,330 bp[2] End 168,443,577 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in vena cava synovial joint synovial membrane nipple buccal mucosa cell pylorus tendon of biceps brachii cartilage tissue saphenous vein skin of arm Top expressed in lumbar subsegment of spinal cord motor neuron substantia nigra ankle condyle facial motor nucleus stroma of bone marrow soleus muscle mesenteric lymph nodes Epithelium of choroid plexus More reference expression data BioGPS n/a
Gene ontology Molecular function DNA binding sequence-specific DNA binding DNA-binding transcription factor activity DNA-binding transcription activator activity, RNA polymerase II-specific transcription factor binding chromatin binding RNA polymerase II cis-regulatory region sequence-specific DNA binding DNA-binding transcription repressor activity, RNA polymerase II-specific protein binding transcription cis-regulatory region binding phosphatase binding DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component cytoplasm transcription regulator complex nucleoplasm nucleus cytosol ribonucleoprotein complex Biological process B cell receptor signaling pathway regulation of transcription, DNA-templated cytokine production calcineurin-NFAT signaling cascade negative regulation of transcription by RNA polymerase II transcription by RNA polymerase II myotube cell development transcription, DNA-templated cellular response to DNA damage stimulus positive regulation of transcription, DNA-templated Fc-epsilon receptor signaling pathway positive regulation of myoblast fusion positive regulation of gene expression positive regulation of B cell proliferation cell migration positive regulation of transcription by RNA polymerase II regulation of regulatory T cell differentiation negative regulation of vascular associated smooth muscle cell differentiation Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 4773 18019 Ensembl ENSG00000101096 ENSMUSG00000027544 UniProt Q13469 Q60591 RefSeq (mRNA) NM_001136021 NM_001258292 NM_001258294 NM_001258295 NM_001258296 NM_001258297 NM_012340 NM_173091 NM_001037177 NM_001037178 NM_001136073 NM_001291168 NM_001291169 NM_001291170 NM_001291171 NM_001291172 NM_001291173 NM_001291174 NM_001291175 NM_001291176 NM_001291177 NM_001291178 NM_001291179 NM_010899 RefSeq (protein) NP_001129493 NP_001245221 NP_001245223 NP_001245224 NP_001245225 NP_001245226 NP_036472 NP_775114 NP_001032254 NP_001032255 NP_001129545 NP_001278097 NP_001278098 NP_001278099 NP_001278100 NP_001278101 NP_001278102 NP_001278103 NP_001278104 NP_001278105 NP_001278106 NP_001278107 NP_001278108 NP_035029 Location (UCSC) Chr 20: 51.39 – 51.56 Mb Chr 2: 168.32 – 168.44 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Function

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.^[6]

Clinical significance

Translocation forming an in frame fusions product between EWSR1 gene and the NFATc2 gene has been described in bone tumor with a Ewing sarcoma-like clinical appearance. The translocation breakpoint led to the loss of the controlling elements of the NFATc2 protein and the fusion of the N terminal region of the EWSR1 gene conferred constant activation of the protein.^[7]

Interactions

NFATC2 has been shown to interact with MEF2D,^[8] EP300,^[9] IRF4^[10] and Protein kinase Mζ.^[11] Prostaglandin F2alpha stimulates a NFCT2 pathway stimulating growth of skeletal muscle cells.^[12]