MAGEA2

Melanoma-associated antigen 2 is a protein that in humans is encoded by the MAGEA2 gene.[3][4][5]

MAGEA2
Identifiers
Aliases	MAGEA2, CT1.2, MAGE2, MAGEA2A, MAGE family member A2
External IDs	OMIM: 300173 HomoloGene: 18781 GeneCards: MAGEA2
Gene location (Human) Chr. X chromosome (human)[1] Band Xq28 Start 152,749,863 bp[1] End 152,753,884 bp[1]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in sural nerve placenta prefrontal cortex endometrium renal cortex gastrocnemius muscle blood spleen n/a More reference expression data BioGPS n/a
Gene ontology Molecular function histone deacetylase binding protein binding ubiquitin protein ligase binding Cellular component PML body nucleus Biological process signal transduction by p53 class mediator cellular senescence negative regulation of protein sumoylation regulation of transcription, DNA-templated negative regulation of transcription by RNA polymerase II positive regulation of ubiquitin-protein transferase activity transcription, DNA-templated negative regulation of protein acetylation Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 4101 n/a Ensembl ENSG00000268606 n/a UniProt P43356 n/a RefSeq (mRNA) NM_001282501 NM_001282502 NM_001282504 NM_001282505 NM_005361 NM_175742 NM_175743 NM_001386130 n/a RefSeq (protein) NP_001269430 NP_001269431 NP_001269433 NP_001269434 NP_005352 NP_786884 NP_786885 n/a Location (UCSC) Chr X: 152.75 – 152.75 Mb n/a PubMed search [2] n/a
Wikidata
View/Edit Human

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. This gene has two identical copies at different loci. Alternatively spliced transcript variants encoding the same protein have been identified for this gene.[5]