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 cluster... See more...

Aliases for MAGEA4 Gene

Aliases for MAGEA4 Gene

  • MAGE Family Member A4 2 3 5
  • Melanoma-Associated Antigen 4 2 3 4
  • CT1.4 2 3 4
  • Cancer/Testis Antigen Family 1, Member 4 2 3
  • Melanoma Antigen Family A4 2 3
  • Cancer/Testis Antigen 1.4 3 4
  • MAGE-41 Antigen 3 4
  • MAGE-X2 Antigen 3 4
  • MAGE-4 Antigen 3 4
  • MAGE-41 2 3
  • MAGE-X2 2 3
  • MAGE4A 2 3
  • MAGE4B 2 3
  • MAGE4 3 4
  • Melanoma Antigen Family A, 4 3
  • MGC21336 2
  • MAGEA4 5

External Ids for MAGEA4 Gene

Previous HGNC Symbols for MAGEA4 Gene

  • MAGE4

Previous GeneCards Identifiers for MAGEA4 Gene

  • GC0XP145421
  • GC0XP147744
  • GC0XP148829
  • GC0XP149702
  • GC0XP149699
  • GC0XP150752
  • GC0XP150832
  • GC0XP151080
  • GC0XP139939

Summaries for MAGEA4 Gene

Entrez Gene Summary for MAGEA4 Gene

  • 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. Several variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2020]

GeneCards Summary for MAGEA4 Gene

MAGEA4 (MAGE Family Member A4) is a Protein Coding gene. Diseases associated with MAGEA4 include Testicular Cancer and Melanoma. An important paralog of this gene is MAGEA1.

UniProtKB/Swiss-Prot Summary for MAGEA4 Gene

  • Not known, though may play a role in embryonal development and tumor transformation or aspects of tumor progression.

Gene Wiki entry for MAGEA4 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MAGEA4 Gene

Genomics for MAGEA4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MAGEA4 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ151911 Promoter 0.3 EPDnew 250.7 -1.3 -1258 0.1 MAGEA4 MAGEA4-AS1 HSALNG0140691 CNGA2
GH0XJ151912 Promoter 0.3 EPDnew 250.7 0.0 -3 0.1 MAGEA4 MAGEA4-AS1 HSALNG0140691 CNGA2
GH0XJ151918 Promoter 0.3 EPDnew 250.4 +5.8 5764 0.1 MAGEA4 MAGEA4-AS1 lnc-MAGEA10-4 GABRE
GH0XJ151981 Enhancer 1 Ensembl ENCODE 12.1 +71.7 71666 6.7 IKZF1 JUND ZNF592 CEBPA NFIC REST CEBPB MBD2 MAX EP300 MIR224 MAGEA4 MAGEA4-AS1 GABRE LOC105373369 lnc-MAGEA4-2 lnc-GABRE-2 MAGEA10-MAGEA5
GH0XJ151988 Enhancer 0.7 ENCODE 12.1 +76.6 76588 1.6 NCOR1 IKZF1 ZNF592 IRF2 RELA TAL1 TEAD4 L3MBTL2 MEIS2 HDAC1 MAGEA4 MAGEA4-AS1 GABRE LOC105373369 lnc-MAGEA4-2 lnc-GABRE-2 MAGEA10-MAGEA5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MAGEA4 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MAGEA4

Top Transcription factor binding sites by QIAGEN in the MAGEA4 gene promoter:
  • Elk-1
  • Olf-1
  • p53

Genomic Locations for MAGEA4 Gene

Latest Assembly
chrX:151,912,474-151,925,170
(GRCh38/hg38)
Size:
12,697 bases
Orientation:
Plus strand

Previous Assembly
chrX:151,080,946-151,093,642
(GRCh37/hg19 by Entrez Gene)
Size:
12,697 bases
Orientation:
Plus strand

chrX:151,080,981-151,093,642
(GRCh37/hg19 by Ensembl)
Size:
12,662 bases
Orientation:
Plus strand

Genomic View for MAGEA4 Gene

Genes around MAGEA4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MAGEA4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MAGEA4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MAGEA4 Gene

Proteins for MAGEA4 Gene

  • Protein details for MAGEA4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P43358-MAGA4_HUMAN
    Recommended name:
    Melanoma-associated antigen 4
    Protein Accession:
    P43358
    Secondary Accessions:
    • Q14798

    Protein attributes for MAGEA4 Gene

    Size:
    317 amino acids
    Molecular mass:
    34899 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for MAGEA4 Gene

neXtProt entry for MAGEA4 Gene

Post-translational modifications for MAGEA4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for MAGEA4 Gene

Domains & Families for MAGEA4 Gene

Gene Families for MAGEA4 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for MAGEA4 Gene

InterPro:
Blocks:
  • MAGE protein

Suggested Antigen Peptide Sequences for MAGEA4 Gene

GenScript: Design optimal peptide antigens:
  • MAGE-X2 antigen (MAGA4_HUMAN)
  • cDNA, FLJ94494, Homo sapiens melanoma antigen, family A, 4 (MAGEA4), mRNA (Q1RN33_HUMAN)
  • MAGEA4 protein (Q4V9T5_HUMAN)
genes like me logo Genes that share domains with MAGEA4: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for MAGEA4 Gene

Function for MAGEA4 Gene

Molecular function for MAGEA4 Gene

UniProtKB/Swiss-Prot Function:
Not known, though may play a role in embryonal development and tumor transformation or aspects of tumor progression.
GENATLAS Biochemistry:
human melanoma antigen,family A,member 4,expressed in melanoma,testis and placenta

Gene Ontology (GO) - Molecular Function for MAGEA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IPI 12525503
genes like me logo Genes that share ontologies with MAGEA4: view
genes like me logo Genes that share phenotypes with MAGEA4: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MAGEA4

Clone products for research

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for MAGEA4 Gene

Localization for MAGEA4 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MAGEA4 gene
Compartment Confidence
nucleus 3
cytosol 3
extracellular 2
plasma membrane 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nuclear speckles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MAGEA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
genes like me logo Genes that share ontologies with MAGEA4: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for MAGEA4 Gene

Pathways & Interactions for MAGEA4 Gene

PathCards logo

SuperPathways for MAGEA4 Gene

No Data Available

Gene Ontology (GO) - Biological Process for MAGEA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with MAGEA4: view

No data available for Pathways by source and SIGNOR curated interactions for MAGEA4 Gene

Drugs & Compounds for MAGEA4 Gene

No Compound Related Data Available

Transcripts for MAGEA4 Gene

mRNA/cDNA for MAGEA4 Gene

11 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MAGEA4

Clone products for research

Alternative Splicing Database (ASD) splice patterns (SP) for MAGEA4 Gene

No ASD Table

Relevant External Links for MAGEA4 Gene

GeneLoc Exon Structure for
MAGEA4

Expression for MAGEA4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MAGEA4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MAGEA4 Gene

This gene is overexpressed in Testis (x52.4).

Protein differential expression in normal tissues from HIPED for MAGEA4 Gene

This gene is overexpressed in Ovary (29.1), Lung (21.3), and Testis (13.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for MAGEA4 Gene



Protein tissue co-expression partners for MAGEA4 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MAGEA4

SOURCE GeneReport for Unigene cluster for MAGEA4 Gene:

Hs.37107

mRNA Expression by UniProt/SwissProt for MAGEA4 Gene:

P43358-MAGA4_HUMAN
Tissue specificity: Expressed in many tumors of several types, such as melanoma, head and neck squamous cell carcinoma, lung carcinoma and breast carcinoma, but not in normal tissues except for testes and placenta.

Evidence on tissue expression from TISSUES for MAGEA4 Gene

  • Intestine(2.3)
genes like me logo Genes that share expression patterns with MAGEA4: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for MAGEA4 Gene

Orthologs for MAGEA4 Gene

This gene was present in the common ancestor of human and mouse.

Orthologs for MAGEA4 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia MAGEA4 29 30
  • 98.84 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Magea10 30
  • 42 (a)
ManyToMany
Magea6 30
  • 40 (a)
ManyToMany
1700080O16Rik 30
  • 40 (a)
ManyToMany
Magea5 30
  • 39 (a)
ManyToMany
Magea3 30
  • 39 (a)
ManyToMany
Magea8 30
  • 39 (a)
ManyToMany
3830417A13Rik 30
  • 38 (a)
ManyToMany
Magea2 30
  • 38 (a)
ManyToMany
Magea1 30
  • 38 (a)
ManyToMany
Magea4 30
  • 38 (a)
ManyToMany
Species where no ortholog for MAGEA4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • Cow (Bos Taurus)
  • Dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for MAGEA4 Gene

ENSEMBL:
Gene Tree for MAGEA4 (if available)
TreeFam:
Gene Tree for MAGEA4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MAGEA4: view image
Alliance of Genome Resources:
Additional Orthologs for MAGEA4

Paralogs for MAGEA4 Gene

(39) SIMAP similar genes for MAGEA4 Gene using alignment to 7 proteins:

  • MAGA4_HUMAN
  • C9J9C2_HUMAN
  • C9JIR1_HUMAN
  • C9JK50_HUMAN
  • C9JZJ5_HUMAN
  • Q1RN33_HUMAN
  • Q4V9T5_HUMAN

Pseudogenes.org Pseudogenes for MAGEA4 Gene

genes like me logo Genes that share paralogs with MAGEA4: view

Variants for MAGEA4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MAGEA4 Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
rs141140102 Likely Benign: not provided 151,924,473(+) A/G
NM_001011548.1(MAGEA4):c.809A>G (p.Tyr270Cys)
MISSENSE
VAR_036582 A breast cancer sample p.Gly153Asp
rs1047251 -- p.Ala173Thr
rs122443163 -- p.Leu137Gln
rs773875619 -- p.Gly230Glu

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MAGEA4 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for MAGEA4 Gene

Variant ID Type Subtype PubMed ID
esv1005324 CNV deletion 20482838
esv22619 CNV gain 19812545
esv2656900 CNV deletion 23128226
esv2664390 CNV deletion 23128226
esv2740611 CNV deletion 23290073
nsv1077249 CNV deletion 25765185
nsv1119646 CNV deletion 24896259
nsv1122270 CNV deletion 24896259
nsv510866 CNV deletion 20534489
nsv528228 CNV gain 19592680
nsv953706 CNV deletion 24416366

Variation tolerance for MAGEA4 Gene

Residual Variation Intolerance Score: 91.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.96; 49.41% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MAGEA4 Gene

Human Gene Mutation Database (HGMD)
MAGEA4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MAGEA4
Leiden Open Variation Database (LOVD)
MAGEA4

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MAGEA4 Gene

Disorders for MAGEA4 Gene

MalaCards: The human disease database

(15) MalaCards diseases for MAGEA4 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
testicular cancer
  • childhood neoplasm of the testis
melanoma
  • malignant melanoma
seminoma
  • seminoma, pure
spermatocytoma
  • spermatocytic seminoma
squamous cell carcinoma
  • epidermoid carcinoma
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for MAGEA4

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with MAGEA4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MAGEA4 Gene

Publications for MAGEA4 Gene

  1. High-resolution structure of HLA-A*0201 in complex with a tumour-specific antigenic peptide encoded by the MAGE-A4 gene. (PMID: 11502003) Hillig RC … Hülsmeyer M (Journal of molecular biology 2001) 3 4 22
  2. Clinical significance of cancer/testis antigens expression in patients with non-small cell lung cancer. (PMID: 19545928) Shigematsu Y … Yasumoto K (Lung cancer (Amsterdam, Netherlands) 2010) 3 22
  3. Frequent MAGE mutations in human melanoma. (PMID: 20862285) Caballero OL … Simpson AJ (PloS one 2010) 3 40
  4. High frequency of MAGE-A4 and MAGE-A9 expression in high-risk bladder cancer. (PMID: 19533752) Bergeron A … Fradet Y (International journal of cancer 2009) 3 22
  5. Cancer/testis antigen MAGE-A4 expression pattern differs in epithelial skin tumors of organ-transplant recipients and immunocompetent patients. (PMID: 17214847) Muehleisen B … Hofbauer GF (Journal of cutaneous pathology 2007) 3 22

Products for MAGEA4 Gene

Sources for MAGEA4 Gene