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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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MAGEC1
MAGE family member C1
Chromosome X · Xq27.2
NCBI Gene: 9947Ensembl: ENSG00000155495.9HGNC: HGNC:6812UniProt: O60732
44PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingcytoplasmnegative regulation of transcription by RNA polymerase IInucleusHodgkins lymphomaneurodegenerative diseaseautismMiyoshi myopathy
✦AI Summary

MAGEC1 (MAGE family member C1) is an X-linked cancer-testis antigen localized to the cytoplasm and nucleus with roles in protein binding and transcriptional regulation 1. The gene is preferentially expressed in spermatogonial stem cells during normal spermatogenesis 2, where it plays a candidate role in male fertility; variants in MAGEC1 were recurrently detected in patients with male factor infertility 2. MAGEC1 functions as a cancer-testis antigen, normally silent in differentiated tissues but re-expressed in various malignancies. In seminomatous testicular germ cell tumors, MAGEC1 was expressed in 40% of classic seminomas 3. In multiple myeloma, MAGEC1/CT7 was the only independent prognostic factor in non-transplanted patients and was expressed in 77% of advanced-stage cases, making it a candidate for immunotherapy 4. MAGEC1 expression associated with favorable prognosis in colon cancer 5 but showed suggestive genome-wide association with high-grade serous ovarian carcinoma risk in African ancestry women 6. A MAGEC1 start codon variant (p.Met1?) showed association with hereditary prostate cancer (OR=3.38) 1, though a distinct MAGEC1 variant (rs176036) did not confer ovarian cancer risk in a Jammu and Kashmir population 7. These findings indicate MAGEC1 participates in spermatogenesis and serves as an immunogenic target in malignancies with prognostic implications.

Sources cited
1
MAGEC1 is preferentially expressed in spermatogonial stem cells and was recurrently detected in male infertility patients
PMID: 39267058
2
MAGEC1 p.Met1? variant associated with hereditary prostate cancer (OR=3.38); MAGEC1 localization and function in transcriptional regulation
PMID: 21810217
3
MAGEC1 expressed in 40% of classic seminomas as a cancer-testis antigen
PMID: 24232866
4
MAGEC1/CT7 independent prognostic factor in non-transplanted multiple myeloma patients; expressed in 77% of advanced-stage MM
PMID: 18237105
5
MAGEC1 expression associated with favorable prognosis in colon cancer
PMID: 28631709
6
MAGEC1 linked variant rs57403204 showed suggestive association with high-grade serous ovarian carcinoma in African ancestry women
PMID: 31469419
7
MAGEC1 rs176036 variant did not confer increased ovarian cancer risk in Jammu and Kashmir population
PMID: 40626660
8
MAGEC1 mRNA expression detected in 28% of medulloblastomas; MAGEC1 protein expression in 12% by immunohistochemistry
PMID: 18426187
Disease Associationsⓘ20
Hodgkins lymphomaOpen Targets
0.35Weak
neurodegenerative diseaseOpen Targets
0.29Weak
autismOpen Targets
0.11Weak
Miyoshi myopathyOpen Targets
0.10Weak
multiple myelomaOpen Targets
0.10Suggestive
melanomaOpen Targets
0.09Suggestive
monoclonal gammopathyOpen Targets
0.03Suggestive
mucosal melanomaOpen Targets
0.03Suggestive
cancerOpen Targets
0.03Suggestive
classic Hodgkin lymphomaOpen Targets
0.03Suggestive
colorectal carcinomaOpen Targets
0.03Suggestive
neoplasmOpen Targets
0.03Suggestive
breast cancerOpen Targets
0.02Suggestive
hepatocellular carcinomaOpen Targets
0.02Suggestive
anti-neutrophil antibody associated vasculitisOpen Targets
0.02Suggestive
ovarian carcinomaOpen Targets
0.02Suggestive
non-small cell lung carcinomaOpen Targets
0.02Suggestive
amyloidosisOpen Targets
0.02Suggestive
laryngeal squamous cell carcinomaOpen Targets
0.01Suggestive
ovarian cancerOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
DSEProtein interaction83%SART1Protein interaction81%MAGEC2Protein interaction80%XAGE1AProtein interaction74%CTAG1BProtein interaction72%SSX2Protein interaction72%
Tissue Expression6 tissues
Brain
100%
Liver
0%
Ovary
0%
Lung
0%
Heart
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
MAGEC1DSESART1MAGEC2XAGE1ACTAG1BSSX2
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt O60732
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
5.10LoF Tolerant
pLIⓘ
0.02Tolerant
Observed/Expected LoF1.97 [0.90–5.10]
RankingsWhere MAGEC1 stands among ~20K protein-coding genes
  • #9,615of 20,598
    Most Researched44
  • #17,880of 17,882
    Most Constrained (LOEUF)5.10
Genes detectedMAGEC1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Whole exome sequencing analysis of 167 men with primary infertility.
PMID: 39267058
BMC Med Genomics · 2024
1.00
2
NMD and microRNA expression profiling of the HPCX1 locus reveal MAGEC1 as a candidate prostate cancer predisposition gene.
PMID: 21810217
BMC Cancer · 2011
0.90
3
[Cancer-testis genes in colon cancer].
PMID: 28631709
Ter Arkh · 2017
0.80
4
Evaluation of a Novel
PMID: 40626660
Genet Test Mol Biomarkers · 2025
0.70
5
Cancer testis antigen expression in testicular germ cell tumorigenesis.
PMID: 24232866
Mod Pathol · 2014
0.60