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  2. MAGEA2 - MAGE family member A2 Gene

MAGEA2 - MAGE family member A2 Gene

Homo sapiens

Also known as CT1.2; MAGE2; MAGEA2A

Gene ID: 4101 | Gene type: protein coding

About MAGEA2

Cytogenetic location: Xq28 Genomic coordinates (GRCh38): X:152,749,863-152,753,884 (from NCBI)

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
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference 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 Reference 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 Reference Source
located in PML body IDA
IDA: Inferred from direct assay
22117195 GOA
located in nucleus IDA
IDA: Inferred from direct assay
16847267 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

melanoma-associated antigen 2

MAGE-2 antigen

Related Diseases

Diseases Alias
Melanoma

Malignant Melanoma

Cutaneous Melanoma

Naevocarcinoma

Malignant Melanomas

Dyskeratosis Congenita

Dyskeratosis Congenita Autosomal Dominant

Dc

Dkc

Zinsser-Engman-Cole Syndrome

Dyskeratosis Congenita, Autosomal Dominant

Autosomal Dominant Dyskeratosis Congenita

Dkca

Dyskeratosis Congenita Scoggins Type

Zinsser-Cole-Engman Syndrome

X-Linked Dyskeratosis Congenita

Hoyeraal-Hreidarsson Syndrome

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma