NFATC2 Knowpia

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
Gene location (Human)
Chr.	Chromosome 20 (human)
End	51,562,831 bp
Gene location (Mouse)
Chr.	Chromosome 2 (mouse)
End	168,443,577 bp
RNA expression pattern
	Top expressed in
	vena cava; ; synovial joint; ; synovial membrane; ; nipple; ; pylorus; ; saphenous vein; ; trachea; ; urethra; ; trigeminal ganglion; ; cardia;
	Top expressed in
	motor neuron; ; substantia nigra; ; ankle; ; condyle; ; facial motor nucleus; ; soleus muscle; ; right ventricle; ; anterior horn of spinal cord; ; female urethra; ; blood;
	More reference expression data
	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
	4773
	18019
	ENSG00000101096
	ENSMUSG00000027544
	Q13469
	Q60591
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
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
	Wikidata
View/Edit Human	View/Edit Mouse

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

Function edit

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 edit

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 edit

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]

References edit

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000101096 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000027544 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Northrop JP, Ho SN, Chen L, Thomas DJ, Timmerman LA, Nolan GP, Admon A, Crabtree GR (Jun 1994). "NF-AT components define a family of transcription factors targeted in T-cell activation". Nature. 369 (6480): 497–502. Bibcode:1994Natur.369..497N. doi:10.1038/369497a0. PMID 8202141. S2CID 9920546.
^ "Entrez Gene: NFATC2 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2".
^ Szuhai K, Ijszenga M, de Jong D, Karseladze A, Tanke HJ, Hogendoorn PC (Apr 2009). "The NFATc2 gene is involved in a novel cloned translocation in a Ewing sarcoma variant that couples its function in immunology to oncology". Clinical Cancer Research. 15 (7): 2259–68. doi:10.1158/1078-0432.CCR-08-2184. PMID 19318479.
^ Youn HD, Chatila TA, Liu JO (Aug 2000). "Integration of calcineurin and MEF2 signals by the coactivator p300 during T-cell apoptosis". The EMBO Journal. 19 (16): 4323–31. doi:10.1093/emboj/19.16.4323. PMC 302027. PMID 10944115.
^ García-Rodríguez C, Rao A (Jun 1998). "Nuclear factor of activated T cells (NFAT)-dependent transactivation regulated by the coactivators p300/CREB-binding protein (CBP)". The Journal of Experimental Medicine. 187 (12): 2031–6. doi:10.1084/jem.187.12.2031. PMC 2212364. PMID 9625762.
^ Rengarajan J, Mowen KA, McBride KD, Smith ED, Singh H, Glimcher LH (Apr 2002). "Interferon regulatory factor 4 (IRF4) interacts with NFATc2 to modulate interleukin 4 gene expression". The Journal of Experimental Medicine. 195 (8): 1003–12. doi:10.1084/jem.20011128. PMC 2193700. PMID 11956291.
^ San-Antonio B, Iñiguez MA, Fresno M (Jul 2002). "Protein kinase Czeta phosphorylates nuclear factor of activated T cells and regulates its transactivating activity". The Journal of Biological Chemistry. 277 (30): 27073–80. doi:10.1074/jbc.M106983200. PMID 12021260.
^ Horsley V, Pavlath GK (2003). "Prostaglandin F2(alpha) stimulates growth of skeletal muscle cells via an NFATC2-dependent pathway". J Cell Biol. 161 (1): 111–8. doi:10.1083/jcb.200208085. PMC 2172881. PMID 12695501.