MAGEC2 MAGE family member C2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MAGEC2provided by HGNC
Official Full Name: MAGE family member C2provided by HGNC
Primary source: HGNC:HGNC:13574
See related: Ensembl:ENSG00000046774 MIM:300468; AllianceGenome:HGNC:13574
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: CT10; HCA587; MAGEE1
Summary: This gene is a member of the MAGEC gene family. It is not expressed in normal tissues, except for testis, and is expressed in tumors of various histological types. This gene and the other MAGEC genes are clustered on chromosome Xq26-q27. [provided by RefSeq, Oct 2009]
Expression: Restricted expression toward testis (RPKM 15.6) See more
Orthologs: all
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Genomic context

Location:: Xq27.2

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (142202342..142205290, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (140511041..140513989, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (141290128..141293076, complement)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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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?

Identification of MAGEC2/CT10 as a High Calcium-Inducible Gene in Triple-Negative Breast Cancer.
Title: Identification of MAGEC2/CT10 as a High Calcium-Inducible Gene in Triple-Negative Breast Cancer.
MageC2 protein is upregulated by oncogenic activation of MAPK pathway and causes impairment of the p53 transactivation function.
Title: MageC2 protein is upregulated by oncogenic activation of MAPK pathway and causes impairment of the p53 transactivation function.
CT10 and PRAME are expressed in a subset of HGUC and CTA and MHC I expression correlate with a number of important immune parameters
Title: Evaluation of cancer testis antigen (CT10, PRAME) and MHC I expression in high-grade urothelial carcinoma of the bladder.
Results show that endogenous MAGEC2 interacts with TRIM28 in melanoma cells and that its expression depends on the existence of TRIM28 protein in many types of neoplasm.
Title: Post-transcriptional regulation of cancer/testis antigen MAGEC2 expression by TRIM28 in tumor cells.
HCA587/MAGEC2 directly binds TAF9 via its CR domain, suggesting that HCA587/MAGEC2 may involve in TAF9 binding with DNA to regulate certain genes transcription.
Title: Cancer‑testis antigen HCA587/MAGEC2 interacts with the general transcription coactivator TAF9 in cancer cells.
our findings revealed a previously unrecognized regulation of STAT3 activation in tumor cells by cancer/testis antigen MAGEC2, and provided a molecular mechanism for the oncogenic activity of MAGEC2 in cancer cells.
Title: The cancer/testis antigen MAGEC2 promotes amoeboid invasion of tumor cells by enhancing STAT3 signaling.
High MAGE-C2 expression was found in 38.18% of triple negative breast cancer tissues and in 9.09% of adjacent tissues. High MAGE-C2 expression in TNBC patients was closely associated with tumor node metastasis and shorter survival time.
Title: Pilot Study on MAGE-C2 as a Potential Biomarker for Triple-Negative Breast Cancer.
our study provides a suitable cell model for exploring the biological functions of MAGEC2 in malignant cells, and sheds light on the molecular pathway by which MAGEC2 promotes tumor development.
Title: Establishment of MAGEC2-knockout cells and functional investigation of MAGEC2 in tumor cells.
The expressions of MAGE-C2 mRNA and MAGE-C2 protein were closely associated with stage, metastasis of lung cancer.
Title: [Expression and Clinical Significance of MAGE-C2 in Lung Adenocarcinoma].
Data show that melanoma antigen, family C, 2 protein (MAGE-C2) binds with RING-box protein 1 (Rbx1) and Cullin 1, and regulates cyclin E stability in melanoma cells.
Title: Cancer-testis antigen MAGE-C2 binds Rbx1 and inhibits ubiquitin ligase-mediated turnover of cyclin E.

Submit: New GeneRIF Correction See all GeneRIFs (32)

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

EBI GWAS Catalog

Description
Genetically distinct subsets within ANCA-associated vasculitis. EBI GWAS Catalog EBI GWAS CatalogPubMed

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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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin protein ligase binding	IDA Inferred from Direct Assay 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
involved_in positive regulation of ubiquitin-protein transferase activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cytosol	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
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 C2

Names: MAGE-C2 antigen; MAGE-E1 antigen; cancer/testis antigen 10; hepatocellular cancer antigen 587; hepatocellular carcinoma-associated antigen 587; melanoma antigen family C, 2; melanoma antigen family C2; melanoma antigen, family E, 1, cancer/testis specific

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.