MAGEA12

MAGEA12
Identifiers
Aliases	MAGEA12 , CT1.12, MAGE12, MAGE family member A12
External IDs	OMIM: 300177 HomoloGene: 88720 GeneCards: MAGEA12
Gene location (Human)
Chr.	X chromosome (human)
End	152,737,669 bp
RNA expression pattern
	Top expressed in
	putamen; ; prefrontal cortex; ; amygdala; ; caudate nucleus; ; cingulate gyrus; ; substantia nigra; ; dorsolateral prefrontal cortex; ; nucleus accumbens; ; hippocampus proper; ; hypothalamus;
	n/a
	More reference expression data
	n/a
Gene ontology
Molecular function	protein binding ; molecular function ;
Cellular component	cellular component ;
Biological process	biological process ;
	Sources:Amigo / QuickGO
Orthologs
	4111
	n/a
	ENSG00000213401
	n/a
	P43365
	n/a
	NM_005367 ; NM_001166386 ; NM_001166387
	n/a
	NP_001159858 ; NP_001159859 ; NP_005358
	n/a
	Wikidata
View/Edit Human

Last updated August 03, 2023

Melanoma-associated antigen 12 is a protein that in humans is encoded by the MAGEA12 gene.^[3]^[4]

Function

This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita.^[4]

Related Research Articles

Melanoma-associated antigen 1 is a protein that in humans is encoded by the MAGEA1 gene.

Cancer/testis antigen 1 also known as LAGE2 or LAGE2B is a protein that in humans is encoded by the CTAG1B gene. It is most often referenced by its alias NY-ESO-1.

Melanoma-associated antigen 3 (MAGE-A3) is a protein that in humans is encoded by the MAGEA3 gene.

Melanoma-associated antigen 4 is a protein that in humans is encoded by the MAGEA4 gene.

Protein melan-A also known as melanoma antigen recognized by T cells 1 or MART-1 is a protein that in humans is encoded by the MLANA or "MALENA" gene. A fragment of the protein, usually consisting of the nine amino acids 27 to 35, is bound by MHC class I complexes which present it to T cells of the immune system. These complexes can be found on the surface of melanoma cells. Decameric peptides (26-35) are being investigated as cancer vaccines.

Melanoma-associated antigen 2 is a protein that in humans is encoded by the MAGEA2 gene.

Melanoma-associated antigen C2 is a protein that in humans is encoded by the MAGEC2 gene.

Melanoma-associated antigen D2 is a protein that in humans is encoded by the MAGED2 gene.

Melanoma-associated antigen B2 is a protein that in humans is encoded by the MAGEB2 gene.

Melanoma-associated antigen H1 is a protein that in humans is encoded by the MAGEH1 gene.

Melanoma-associated antigen 11 is a protein that in humans is encoded by the MAGEA11 gene. It is also involved in the androgen and progesterone receptor signaling pathways.

Probable ATP-dependent RNA helicase DDX43 is an enzyme that in humans is encoded by the DDX43 gene.

Melanoma-associated antigen D4 is a protein that in humans is encoded by the MAGED4B gene.

Melanoma-associated antigen 9 is a protein that in humans is encoded by the MAGEA9 gene.

The mammalian members of the MAGE gene family were originally described as completely silent in normal adult tissues, with the exception of male germ cells and, for some of them, placenta. By contrast, these genes were expressed in various kinds of tumors.

Melanoma antigen family A, 5 is a protein in humans that is encoded by the MAGEA5 gene.

Melanoma antigen family A, 8 is a protein that in humans is encoded by the MAGEA8 gene.

Cancer/testis (CT) antigens are a group of proteins united by their importance in development and in cancer immunotherapy. In general, expression of these proteins is restricted to male germ cells in the adult animal. However, in cancer these developmental antigens are often re-expressed and can serve as a locus of immune activation. Thus, they are often classified as tumor antigens. The expression of CT antigens in various malignancies is heterogeneous and often correlates with tumor progression. CT antigens have been described in melanoma, liver cancer, lung cancer, bladder cancer, and pediatric tumors such as neuroblastoma. Gametogenesis offers an important role for many of these antigens in the differentiation, migration, and cell division of primordial germ cells, spermatogonia spermatocytes and spermatids. Because of their tumor-restricted expression and strong in vivo immunogenicity, CT antigens are identified as ideal targets for tumor specific immunotherapeutic approaches and prompted the development of several clinical trials of CT antigens-based vaccine therapy. CT antigens have been found to have at least 70 families so far, including about 140 members, most of which are expressed during spermatogenesis. Their expression are mainly regulated by epigenetic events, specifically, DNA methylation.

T lymphocytes are cells of the immune system that attack and destroy virus-infected cells, tumor cells and cells from transplanted organs. This occurs because each T cell is endowed with a highly specific receptor that can bind to an antigen present at the surface of another cell. The T cell receptor binds to a complex formed by a surface protein named "MHC" and a small peptide of about 9 amino-acids, which is located in a groove of the MHC molecule. This peptide can originate from a protein that remains within the cell. Whereas each T cell recognizes a single antigen, collectively the T cells are endowed with a large diversity of receptors targeted at a wide variety of antigens. T cells originate in the thymus. There a process named central tolerance eliminates the T cells that have a receptor recognizing an antigen present on normal cells of the organism. This enables the T cells to eliminate cells with "foreign" or "abnormal" antigens without harming the normal cells.

MAGEA10 is a protein-coding gene in humans clustered at chromosomal location Xq28.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000213401 - Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ Rogner UC, Wilke K, Steck E, Korn B, Poustka A (October 1995). "The melanoma antigen gene (MAGE) family is clustered in the chromosomal band Xq28". Genomics. 29 (3): 725–31. doi:10.1006/geno.1995.9945. PMID 8575766.
1 2 "Entrez Gene: MAGEA12 melanoma antigen family A, 12".

De Plaen E, Arden K, Traversari C, Gaforio JJ, Szikora JP, De Smet C, Brasseur F, van der Bruggen P, Lethé B, Lurquin C (1994). "Structure, chromosomal localization, and expression of 12 genes of the MAGE family". Immunogenetics. 40 (5): 360–9. doi:10.1007/BF01246677. PMID 7927540. S2CID 11331427.
Ding M, Beck RJ, Keller CJ, Fenton RG (July 1994). "Cloning and analysis of MAGE-1-related genes". Biochemical and Biophysical Research Communications. 202 (1): 549–55. doi:10.1006/bbrc.1994.1963. PMID 8037761.
De Smet C, Lurquin C, van der Bruggen P, De Plaen E, Brasseur F, Boon T (1994). "Sequence and expression pattern of the human MAGE2 gene". Immunogenetics. 39 (2): 121–9. doi:10.1007/bf00188615. PMID 8276455. S2CID 13579671.
Mallon AM, Platzer M, Bate R, Gloeckner G, Botcherby MR, Nordsiek G, Strivens MA, Kioschis P, Dangel A, Cunningham D, Straw RN, Weston P, Gilbert M, Fernando S, Goodall K, Hunter G, Greystrong JS, Clarke D, Kimberley C, Goerdes M, Blechschmidt K, Rump A, Hinzmann B, Mundy CR, Miller W, Poustka A, Herman GE, Rhodes M, Denny P, Rosenthal A, Brown SD (June 2000). "Comparative genome sequence analysis of the Bpa/Str region in mouse and Man". Genome Research. 10 (6): 758–75. doi:10.1101/gr.10.6.758. PMC 310879 . PMID 10854409.
Wischnewski F, Friese O, Pantel K, Schwarzenbach H (July 2007). "Methyl-CpG binding domain proteins and their involvement in the regulation of the MAGE-A1, MAGE-A2, MAGE-A3, and MAGE-A12 gene promoters". Molecular Cancer Research. 5 (7): 749–59. doi: 10.1158/1541-7786.MCR-06-0364 . PMID 17634428.

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000213401 - Ensembl, May 2017

[2] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid8575766-3] Rogner UC, Wilke K, Steck E, Korn B, Poustka A (October 1995). "The melanoma antigen gene (MAGE) family is clustered in the chromosomal band Xq28". Genomics. 29 (3): 725–31. doi:10.1006/geno.1995.9945. PMID 8575766.

[entrez-4] 1 2 "Entrez Gene: MAGEA12 melanoma antigen family A, 12".

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MAGEA12

Contents

Function

Related Research Articles

References

Further reading