MAGEA2 - MAGE family member A2 Gene
Also Known as CT1.2; MAGE2; MAGEA2A
Species: Homo sapiens
About MAGEA2
This gene has 10 transcripts (splice variants), 459 orthologues and 37 paralogues. Restricted expression toward testis (RPKM 2.8).
Summary
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. [provided by RefSeq, Jul 2008]
MAGEA2 Products (8)
| mRNA | Protein | Name |
|---|---|---|
| NM_001282501.2 | NP_001269430.1 | melanoma-associated antigen 2 |
| NM_001282502.1 | NP_001269431.1 | melanoma-associated antigen 2 |
| NM_001282504.1 | NP_001269433.1 | melanoma-associated antigen 2 |
| NM_001282505.1 | NP_001269434.1 | melanoma-associated antigen 2 |
| NM_001386130.2 | NP_001373059.1 | melanoma-associated antigen 2 |
| NM_005361.3 | NP_005352.1 | melanoma-associated antigen 2 |
| NM_175742.2 | NP_786884.1 | melanoma-associated antigen 2 |
| NM_175743.2 | NP_786885.1 | melanoma-associated antigen 2 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables DNA-binding transcription factor binding |
IDA
IDA: Inferred from direct assay
|
16847267 | GOA |
| enables histone deacetylase binding |
IDA
IDA: Inferred from direct assay
|
16847267 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
16847267 | GOA |
| enables ubiquitin protein ligase binding |
IDA
IDA: Inferred from direct assay
|
20864041 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in cellular senescence |
IDA
IDA: Inferred from direct assay
|
22117195 | GOA |
| involved in negative regulation of protein acetylation |
IDA
IDA: Inferred from direct assay
|
22117195 | GOA |
| involved in negative regulation of protein sumoylation |
IDA
IDA: Inferred from direct assay
|
22117195 | GOA |
| involved in negative regulation of transcription by RNA polymerase II |
IDA
IDA: Inferred from direct assay
|
16847267 | GOA |
| involved in positive regulation of ubiquitin-protein transferase activity |
IMP
IMP: Inferred from mutant phenotype
|
20864041 | GOA |
| involved in protein catabolic process |
IMP
IMP: Inferred from mutant phenotype
|
20864041 | GOA |
| involved in signal transduction by p53 class mediator |
IDA
IDA: Inferred from direct assay
|
16847267 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in PML body |
IDA
IDA: Inferred from direct assay
|
22117195 | GOA |
| located in nucleus |
IDA
IDA: Inferred from direct assay
|
16847267 | GOA |
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
melanoma-associated antigen 2 |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Melanoma |
|
|
| Dyskeratosis Congenita |
|
|