Nuclear factor of activated T-cells, cytoplasmic 2 is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, res ...
that in humans is encoded by the ''NFATC2''
gene
In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a b ...
.
Function
This gene is a member of the nuclear factor of activated T cells (
NFAT
Nuclear factor of activated T-cells (NFAT) is a family of transcription factors shown to be important in immune response. One or more members of the NFAT family is expressed in most cells of the immune system. NFAT is also involved in the developme ...
) family. The product of this gene is a
DNA-binding protein
DNA-binding proteins are proteins that have DNA-binding domains and thus have a specific or general affinity for single- or double-stranded DNA. Sequence-specific DNA-binding proteins generally interact with the major groove of B-DNA, becaus ...
with a
REL-homology region
The Rel homology domain (RHD) is a protein domain found in a family of eukaryotic transcription factors, including both NF-κB and NFAT, among others. Some of these transcription factors appear to form multi-protein DNA-bound complexes. Phosphor ...
(RHR) and an NFAT-homology region (NHR). This protein is present in the
cytosol
The cytosol, also known as cytoplasmic matrix or groundplasm, is one of the liquids found inside cells ( intracellular fluid (ICF)). It is separated into compartments by membranes. For example, the mitochondrial matrix separates the mitochondri ...
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.
Clinical significance
Translocation forming an in frame fusions product between
EWSR1 gene and the NFATc2 gene has been described in
bone tumor
A bone tumor is an abnormal growth of tissue in bone, traditionally classified as noncancerous (benign) or cancerous (malignant). Cancerous bone tumors usually originate from a cancer in another part of the body such as from lung, breast, thyro ...
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.
Interactions
NFATC2 has been shown to
interact
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with
MEF2D
Myocyte-specific enhancer factor 2D is a protein that in humans is encoded by the ''MEF2D'' gene.
Interactions
MEF2D has been shown to interact with:
* CABIN1,
* EP300,
* MAPK7,
* Myocyte-specific enhancer factor 2A,
* NFATC2
* Sp1 transcri ...
,
EP300
Histone acetyltransferase p300 also known as p300 HAT or E1A-associated protein p300 (where E1A = adenovirus early region 1A) also known as EP300 or p300 is an enzyme that, in humans, is encoded by the ''EP300'' gene. It functions as histone acet ...
,
IRF4
Interferon regulatory factor 4 (IRF4) also known as ''MUM1'' is a protein that in humans is encoded by the ''IRF4'' gene, located at 6p25-p23. IRF4 functions as a key regulatory transcription factor in the development of human immune cells.Nam S, ...
and
Protein kinase Mζ
Protein kinase C, zeta (PKCζ), also known as PRKCZ, is a protein in humans that is encoded by the ''PRKCZ'' gene. The PRKCZ gene encodes at least two alternative transcripts, the full-length PKCζ and an N-terminal truncated form PKMζ. PKMζ ...
.
stimulates a NFCT2 pathway stimulating growth of skeletal muscle cells.
References
Further reading
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External links
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{{DEFAULTSORT:Nfatc2
Transcription factors
Human proteins