MAGEA9

Chr X

MAGE family member A9

Also known as: CT1.9, MAGE9

NCBI Gene: 4108ENSG00000123584UniProt: P43362

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. [provided by RefSeq, Jul 2008]

102
ClinVar variants
91
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— MAGEA9
📋
ClinVar Variants
91 Pathogenic / Likely Pathogenic· 10 VUS of 102 total submissions

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

102 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic89
Likely Pathogenic2
VUS10
Likely Benign1
89
Pathogenic
2
Likely Pathogenic
10
VUS
1
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
————89
Likely Pathogenic
————2
VUS
————10
Likely Benign
————1
Benign
————0
Total—102

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

MAGEA9 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Cancer regression and neurological toxicity following anti-MAGE-A3 TCR gene therapy.
Morgan RA et al.·J Immunother
2013Clinical trial
Recurrent X chromosome-linked deletions: discovery of new genetic factors in male infertility.
Lo Giacco D et al.·J Med Genet
2014
Evidence for the involvement of the proximal copy of the MAGEA9 gene in Xq28-linked CNV67 specific to spermatogenic failure.
Shen Y et al.·Biol Reprod
2017
High expression of MAGE-A9 in tumor and stromal cells of non-small cell lung cancer was correlated with patient poor survival.
Zhang S et al.·Int J Clin Exp Pathol
2015
Double complex mutations involving F8 and FUNDC2 caused by distinct break-induced replication.
Sheen CR et al.·Hum Mutat
2007Case report
Overexpression of MAGE-A9 predicts unfavorable outcome in breast cancer.
Xu X et al.·Exp Mol Pathol
2014
Expression and prognostic value of MAGE-A9 in laryngeal squamous cell carcinoma.
Han L et al.·Int J Clin Exp Pathol
2014
Expression of MAGE-A1, -A9, -A11 in laryngeal squamous cell carcinoma and their prognostic significance: a retrospective clinical study.
Liu S et al.·Acta Otolaryngol
2016
High expression of MAGE-A9 contributes to stemness and malignancy of human hepatocellular carcinoma.
Wei Y et al.·Int J Oncol
2018
Correlation of MAGE-A tumor antigens and the efficacy of various chemotherapeutic agents in head and neck carcinoma cells.
Hartmann S et al.·Clin Oral Investig
2014
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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External Resources

Links to major genomics databases and tools