MAGEA12 MAGE family member A12 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MAGEA12provided by HGNC
Official Full Name: MAGE family member A12provided by HGNC
Primary source: HGNC:HGNC:6799
See related: Ensembl:ENSG00000213401 MIM:300177; AllianceGenome:HGNC:6799
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: CT1.12; MAGE12
Summary: This gene is closely related to several other genes clustered on chromosome X. These genes may be overexpressed in tumors. Multiple alternatively spliced variants encoding the same protein have been identified. [provided by RefSeq, Jun 2014]
Expression: Restricted expression toward testis (RPKM 1.8) See more
Orthologs: all
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Genomic context

Location:: Xq28

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (152733757..152737669)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (151000336..151004248)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (151899293..151903206, complement)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Resveratrol acts via melanoma-associated antigen A12 (MAGEA12)/protein kinase B (Akt) signaling to inhibit the proliferation of oral squamous cell carcinoma cells.
Title: Resveratrol acts via melanoma-associated antigen A12 (MAGEA12)/protein kinase B (Akt) signaling to inhibit the proliferation of oral squamous cell carcinoma cells.
MAGEA12-mediated down-regulation of p21 may be involved in cutaneous squamous cell carcinoma pathogenesis and MAGEA12 may serve as a molecular biomarker in cSCC.
Title: Overexpression and Implications of Melanoma-associated Antigen A12 in Pathogenesis of Human Cutaneous Squamous Cell Carcinoma.
over-expression of MAGEA12 in a subset of gastric cancers was associated with later stage and reduced survival
Title: Identification of MAGEA12 as a prognostic outlier gene in gastric cancers.
Data show the Differences in high resolution melting analysis in promoters of tumor markers neuronal membrane glycoprotein M6-B, melanoma antigen family A12 and immunoglobulin superfamily Fc receptor indicated invasiveness of hepatocellular carcinoma.
Title: Discovery and validation of DNA hypomethylation biomarkers for liver cancer using HRM-specific probes.
To identify novel CTL epitopes from MAGE-A6 and MAGE-A12 antigens.
Title: Identification of novel MAGE-A6- and MAGE-A12-derived HLA-A24-restricted cytotoxic T lymphocyte epitopes using an in silico peptide-docking assay.
results of this study may indicate Melanoma associated-A12 antigen(MAGE-A12)as a diagnostic marker for early detection of oral squamous cell carcinoma
Title: Expression of MAGE-A12 in oral squamous cell carcinoma.
Multiple simultaneous detection of MAGE-A [subtypes] more specific and sensitive than detection of single MAGE-A antigen for the diagnostic and prognostic evaluation of oral squamous cell carcinoma
Title: Expression of melanoma-associated antigens in oral squamous cell carcinoma.
These data show, for the first time, the involvement of methyl-CpG binding domain proteins in the regulation of the MAGE-A genes.
Title: Methyl-CpG binding domain proteins and their involvement in the regulation of the MAGE-A1, MAGE-A2, MAGE-A3, and MAGE-A12 gene promoters.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:581738 (e-PCR)
- UniSTS:157873

SHGC-35597 (e-PCR)
- UniSTS:70605

SHGC-35594 (e-PCR)
- UniSTS:70606

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables histone deacetylase binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in negative regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: melanoma-associated antigen 12

Names: MAGE12F antigen; cancer/testis antigen 1.12; cancer/testis antigen family 1, member 12; melanoma antigen family A, 12; melanoma antigen family A12

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.

Genomic

NG_015852.2 RefSeqGene

Range

4940..8852

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001166386.3 → NP_001159858.1 melanoma-associated antigen 12

See identical proteins and their annotated locations for NP_001159858.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2 and 3 all encode the same protein.

Source sequence(s)

AC244102

Consensus CDS

CCDS76048.1

UniProtKB/Swiss-Prot

P43365, Q6FHH8, Q9NSD3

Related

ENSP00000377478.3, ENST00000393900.4

Conserved Domains (2) summary

pfam01454
Location:116 → 280

MAGE; MAGE family

pfam12440
Location:5 → 94

MAGE_N; Melanoma associated antigen family N terminal
NM_001166387.4 → NP_001159859.1 melanoma-associated antigen 12

See identical proteins and their annotated locations for NP_001159859.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 all encode the same protein.

Source sequence(s)

AC244102

Consensus CDS

CCDS76048.1

UniProtKB/Swiss-Prot

P43365, Q6FHH8, Q9NSD3

Related

ENSP00000377447.3, ENST00000393869.8

Conserved Domains (2) summary

pfam01454
Location:116 → 280

MAGE; MAGE family

pfam12440
Location:5 → 94

MAGE_N; Melanoma associated antigen family N terminal
NM_005367.7 → NP_005358.2 melanoma-associated antigen 12

See identical proteins and their annotated locations for NP_005358.2

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 all encode the same protein.

Source sequence(s)

AC244102

Consensus CDS

CCDS76048.1

UniProtKB/Swiss-Prot

P43365, Q6FHH8, Q9NSD3

Related

ENSP00000350592.4, ENST00000357916.8

Conserved Domains (2) summary

pfam01454
Location:116 → 280

MAGE; MAGE family

pfam12440
Location:5 → 94

MAGE_N; Melanoma associated antigen family N terminal