Melanoma Antigen, Family E, 2

Alternative Names

MAGEE2

Length

2,268 bases

No. of Exons

No. of isoforms

Protein Name

Melanoma-associated antigen E2

Molecular Mass

60378 Da

Amino Acid Count

523

Genomic Location

chrX:75,782,987-75,785,254

Gene Map Locus

Xq13.3

Description

This gene encodes a member of the E subfamily of MAGE (melanoma antigen-encoding gene) gene family. The gene is intronless and the encoded protein has two of the MAGE domains which are characteristic of MAGE family proteins. [From RefSeq]

Epidemiology in the Arab World

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Saudi Arabia

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_138703.5:c.1484G>A	Saudi Arabia	NC_000023.11:g.75783568C>T		Likely Pathogenic	Spermatogenic Failure 1	NG_021324.1:g.6677G>A; NM_138703.5:c.1484G>A; NP_619648.1:p.Trp495Ter
NM_138703.5:c.700C>T	Saudi Arabia	NC_000023.11:g.75784352G>A		Likely Pathogenic	Spermatogenic Failure 1	NG_021324.1:g.5893C>T; NM_138703.5:c.700C>T; NP_619648.1:p.Arg234Ter	368595966

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External Links

https://www.genecards.org/cgi-bin/carddisp.pl?gene=MAGEE2 https://www.ncbi.nlm.nih.gov/gene/139599

Contributors

Pratibha Nair: 20.03.2023

Edit History

Pratibha Nair: 20.03.2023

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