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MAGEA2 MAGE family member A2 [ Homo sapiens (human) ]

Gene ID: 4101, updated on 19-Sep-2021

Summary

Official Symbol
MAGEA2provided by HGNC
Official Full Name
MAGE family member A2provided by HGNC
Primary source
HGNC:HGNC:6800
See related
Ensembl:ENSG00000268606 MIM:300173
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CT1.2; MAGE2; MAGEA2A
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]
Expression
Restricted expression toward testis (RPKM 2.8) See more
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Genomic context

See MAGEA2 in Genome Data Viewer
Location:
Xq28
Exon count:
7
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (152749863..152753884, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (151918387..151922408, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene chondrosarcoma associated gene 1 Neighboring gene MAGE family member A12 Neighboring gene CSAG family member 4 (pseudogene) Neighboring gene CSAG family member 3 Neighboring gene MAGE family member A6

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • MGC131923

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA-binding transcription factor binding IDA
Inferred from Direct Assay
more info
PubMed 
enables histone deacetylase binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables histone deacetylase binding IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables ubiquitin protein ligase binding IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
located_in PML body IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
melanoma-associated antigen 2
Names
MAGE-2 antigen
cancer/testis antigen 1.2
cancer/testis antigen family 1, member 2
melanoma antigen 2
melanoma antigen family A, 2
melanoma antigen family A2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001282501.2NP_001269430.1  melanoma-associated antigen 2

    See identical proteins and their annotated locations for NP_001269430.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an internal exon in the 5' UTR region, compared to variant 3. Variants 1 through 7 encode the same protein.
    Source sequence(s)
    AK290443, BC063681, CA429655
    Consensus CDS
    CCDS76049.1
    UniProtKB/Swiss-Prot
    P43356
    UniProtKB/TrEMBL
    A0A024RC17, Q6P448
    Related
    ENSP00000484290.1, ENST00000620710.4
    Conserved Domains (2) summary
    pfam01454
    Location:116280
    MAGE; MAGE family
    pfam12440
    Location:594
    MAGE_N; Melanoma associated antigen family N terminal
  2. NM_001282502.1NP_001269431.1  melanoma-associated antigen 2

    See identical proteins and their annotated locations for NP_001269431.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks two internal exons in the 5' UTR region, compared to variant 3. Variants 1 through 7 encode the same protein.
    Source sequence(s)
    AK290443, BC108720, CA429655
    Consensus CDS
    CCDS76049.1
    UniProtKB/Swiss-Prot
    P43356
    UniProtKB/TrEMBL
    A0A024RC17
    Related
    ENSP00000470872.1, ENST00000595583.5
    Conserved Domains (2) summary
    pfam01454
    Location:116280
    MAGE; MAGE family
    pfam12440
    Location:594
    MAGE_N; Melanoma associated antigen family N terminal
  3. NM_001282504.1NP_001269433.1  melanoma-associated antigen 2

    See identical proteins and their annotated locations for NP_001269433.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) lacks three internal exons in the 5' UTR region, compared to variant 3. Variants 1 through 7 encode the same protein.
    Source sequence(s)
    AK290443, BC108720, CA429655, DR158683
    Consensus CDS
    CCDS76049.1
    UniProtKB/Swiss-Prot
    P43356
    UniProtKB/TrEMBL
    A0A024RC17
    Related
    ENSP00000480491.1, ENST00000611674.4
    Conserved Domains (2) summary
    pfam01454
    Location:116280
    MAGE; MAGE family
    pfam12440
    Location:594
    MAGE_N; Melanoma associated antigen family N terminal
  4. NM_001282505.1NP_001269434.1  melanoma-associated antigen 2

    See identical proteins and their annotated locations for NP_001269434.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) lacks four internal exons in the 5' UTR region, compared to variant 3. Variants 1 through 7 encode the same protein.
    Source sequence(s)
    AK290443, AU100045, BC108720, CA429655
    Consensus CDS
    CCDS76049.1
    UniProtKB/Swiss-Prot
    P43356
    UniProtKB/TrEMBL
    A0A024RC17
    Related
    ENSP00000469919.1, ENST00000598543.5
    Conserved Domains (2) summary
    pfam01454
    Location:116280
    MAGE; MAGE family
    pfam12440
    Location:594
    MAGE_N; Melanoma associated antigen family N terminal
  5. NM_001386130.2NP_001373059.1  melanoma-associated antigen 2

    Status: REVIEWED

    Source sequence(s)
    AC244102
    Related
    ENSP00000507899.1, ENST00000684311.1
    Conserved Domains (2) summary
    pfam01454
    Location:116280
    MAGE; MAGE family
    pfam12440
    Location:594
    MAGE_N; Melanoma associated antigen family N terminal
  6. NM_005361.3NP_005352.1  melanoma-associated antigen 2

    See identical proteins and their annotated locations for NP_005352.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) differs in the 5' UTR, compared to variant 3. Variants 1 through 7 encode the same protein.
    Source sequence(s)
    AC244102
    Consensus CDS
    CCDS76049.1
    UniProtKB/Swiss-Prot
    P43356
    UniProtKB/TrEMBL
    A0A024RC17
    Related
    ENSP00000480738.1, ENST00000611557.4
    Conserved Domains (2) summary
    pfam01454
    Location:116280
    MAGE; MAGE family
    pfam12440
    Location:594
    MAGE_N; Melanoma associated antigen family N terminal
  7. NM_175742.2NP_786884.1  melanoma-associated antigen 2

    See identical proteins and their annotated locations for NP_786884.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has an additional exon in the 5' region and lacks an alternate exon in a downstream region, compared to variant 3. Variants 1 through 7 encode the same protein.
    Source sequence(s)
    AK290443, BC108720, BM781931, CA429655
    Consensus CDS
    CCDS76049.1
    UniProtKB/Swiss-Prot
    P43356
    UniProtKB/TrEMBL
    A0A024RC17
    Related
    ENSP00000485391.1, ENST00000623438.3
    Conserved Domains (2) summary
    pfam01454
    Location:116280
    MAGE; MAGE family
    pfam12440
    Location:594
    MAGE_N; Melanoma associated antigen family N terminal
  8. NM_175743.2NP_786885.1  melanoma-associated antigen 2

    See identical proteins and their annotated locations for NP_786885.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) is the longest transcript. Variants 1 through 7 encode the same protein.
    Source sequence(s)
    AK290443, BC108720, BX282627, CA429655
    Consensus CDS
    CCDS76049.1
    UniProtKB/Swiss-Prot
    P43356
    UniProtKB/TrEMBL
    A0A024RC17
    Related
    ENSP00000485541.1, ENST00000623806.3
    Conserved Domains (2) summary
    pfam01454
    Location:116280
    MAGE; MAGE family
    pfam12440
    Location:594
    MAGE_N; Melanoma associated antigen family N terminal

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    152749863..152753884 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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