Myocyte-specific enhancer factor 2C also known as MADS box transcription enhancer factor 2, polypeptide C is a
protein that in humans is encoded by the MEF2Cgene.[4][5] MEF2C is a
transcription factor in the
Mef2 family.[6][7]
Genomics
The gene is located at 5q14.3 on the
minus (Crick) strand and is 200,723 bases in length. The encoded protein has 473 amino acids with a predicted molecular weight of 51.221 kilo
daltons. Three isoforms have been identified. Several post translational modifications have been identified including phosphorylation on
serine-59 and serine-396, sumoylation on
lysine-391, acetylation on lysine-4 and proteolytic cleavage.
This gene is involved in cardiac morphogenesis and myogenesis and vascular development. It may also be involved in neurogenesis and in the development of cortical architecture. Mice without a functional copy of the Mef2c gene die before birth and have abnormalities in the
heart and
vascular system.[15] It is one of the targets of an oncomiR,
MIRN21.
MEF2C-binding site is associated with minor allele of SNP rs630923, associated with the risk of multiple sclerosis, and responsible for reduced
CXCR5 gene promoter activity in B-cells during activation, that could lead to decreased autoimmune response [18]
^Hosking BM, Wang SC, Chen SL, Penning S, Koopman P, Muscat GE (Sep 2001). "SOX18 directly interacts with MEF2C in endothelial cells". Biochemical and Biophysical Research Communications. 287 (2): 493–500.
doi:
10.1006/bbrc.2001.5589.
PMID11554755.
^Maeda T, Gupta MP, Stewart AF (Jun 2002). "TEF-1 and MEF2 transcription factors interact to regulate muscle-specific promoters". Biochemical and Biophysical Research Communications. 294 (4): 791–7.
doi:
10.1016/S0006-291X(02)00556-9.
PMID12061776.
Hobson GM, Krahe R, Garcia E, Siciliano MJ, Funanage VL (Oct 1995). "Regional chromosomal assignments for four members of the MADS domain transcription enhancer factor 2 (MEF2) gene family to human chromosomes 15q26, 19p12, 5q14, and 1q12-q23". Genomics. 29 (3): 704–11.
doi:
10.1006/geno.1995.9007.
PMID8575763.
Swanson BJ, Jäck HM, Lyons GE (Jun 1998). "Characterization of myocyte enhancer factor 2 (MEF2) expression in B and T cells: MEF2C is a B cell-restricted transcription factor in lymphocytes". Molecular Immunology. 35 (8): 445–58.
doi:
10.1016/S0161-5890(98)00058-3.
PMID9798649.
Myocyte-specific enhancer factor 2C also known as MADS box transcription enhancer factor 2, polypeptide C is a
protein that in humans is encoded by the MEF2Cgene.[4][5] MEF2C is a
transcription factor in the
Mef2 family.[6][7]
Genomics
The gene is located at 5q14.3 on the
minus (Crick) strand and is 200,723 bases in length. The encoded protein has 473 amino acids with a predicted molecular weight of 51.221 kilo
daltons. Three isoforms have been identified. Several post translational modifications have been identified including phosphorylation on
serine-59 and serine-396, sumoylation on
lysine-391, acetylation on lysine-4 and proteolytic cleavage.
This gene is involved in cardiac morphogenesis and myogenesis and vascular development. It may also be involved in neurogenesis and in the development of cortical architecture. Mice without a functional copy of the Mef2c gene die before birth and have abnormalities in the
heart and
vascular system.[15] It is one of the targets of an oncomiR,
MIRN21.
MEF2C-binding site is associated with minor allele of SNP rs630923, associated with the risk of multiple sclerosis, and responsible for reduced
CXCR5 gene promoter activity in B-cells during activation, that could lead to decreased autoimmune response [18]
^Hosking BM, Wang SC, Chen SL, Penning S, Koopman P, Muscat GE (Sep 2001). "SOX18 directly interacts with MEF2C in endothelial cells". Biochemical and Biophysical Research Communications. 287 (2): 493–500.
doi:
10.1006/bbrc.2001.5589.
PMID11554755.
^Maeda T, Gupta MP, Stewart AF (Jun 2002). "TEF-1 and MEF2 transcription factors interact to regulate muscle-specific promoters". Biochemical and Biophysical Research Communications. 294 (4): 791–7.
doi:
10.1016/S0006-291X(02)00556-9.
PMID12061776.
Hobson GM, Krahe R, Garcia E, Siciliano MJ, Funanage VL (Oct 1995). "Regional chromosomal assignments for four members of the MADS domain transcription enhancer factor 2 (MEF2) gene family to human chromosomes 15q26, 19p12, 5q14, and 1q12-q23". Genomics. 29 (3): 704–11.
doi:
10.1006/geno.1995.9007.
PMID8575763.
Swanson BJ, Jäck HM, Lyons GE (Jun 1998). "Characterization of myocyte enhancer factor 2 (MEF2) expression in B and T cells: MEF2C is a B cell-restricted transcription factor in lymphocytes". Molecular Immunology. 35 (8): 445–58.
doi:
10.1016/S0161-5890(98)00058-3.
PMID9798649.