Gene Gene information from NCBI Gene database.
Entrez ID 51438
Gene name MAGE family member C2
Gene symbol MAGEC2
Synonyms (NCBI Gene)
CT10HCA587MAGEE1
Chromosome X
Chromosome location Xq27.2
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 RefS
miRNA miRNA information provided by mirtarbase database.
10
miRTarBase ID miRNA Experiments Reference
MIRT1125708 hsa-miR-137 CLIP-seq
MIRT1125709 hsa-miR-25 CLIP-seq
MIRT1125710 hsa-miR-32 CLIP-seq
MIRT1125711 hsa-miR-363 CLIP-seq
MIRT1125712 hsa-miR-367 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
10
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IBA
GO:0005515 Function Protein binding IPI 20864041, 21277283, 25416956, 31515488, 32814053
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IEA
GO:0005654 Component Nucleoplasm IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
300468 13574 ENSG00000046774
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UBF1
Protein name Melanoma-associated antigen C2 (Cancer/testis antigen 10) (CT10) (Hepatocellular carcinoma-associated antigen 587) (MAGE-C2 antigen) (MAGE-E1 antigen)
Protein function Proposed to enhance ubiquitin ligase activity of RING-type zinc finger-containing E3 ubiquitin-protein ligases. In vitro enhances ubiquitin ligase activity of TRIM28 and stimulates p53/TP53 ubiquitination in presence of Ubl-conjugating enzyme UB
Family and domains
Tissue specificity TISSUE SPECIFICITY: Not expressed in normal tissues, except in germ cells in the seminiferous tubules and in Purkinje cells of the cerebellum. Expressed in various tumors, including melanoma, lymphoma, as well as pancreatic cancer, mammary gland cancer, n
Sequence
MPPVPGVPFRNVDNDSPTSVELEDWVDAQHPTDEEEEEASSASSTLYLVFSPSSFSTSSS
LILGGPEEEEVPSGVIPNLTESIPSSPPQGPPQGPSQSPLSSCCSSFSWSSFSEESSSQK
GEDTGTCQGLPDSESSFTYTLDEKVAELVEFLLLKYEAEEPVTEAEMLMIVIKYKDYFPV
ILKRAREFMELLFGLALIEVGPDHFCVFANTVGLTDEGSDDEGMPENSLLIIILSVIFIK
GNCASEEVIWEVLNAVGVYAGREHFVYGEPRELLTKVWVQGHYLEYREVPHSSPPYYEFL
WGPRAHSESIKKKVLEFLAKLNNTVPSSFPSWYKDALKDVEERVQATIDTADDATVMASE
SLSVMSSNVSFSE
Sequence length 373
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ANTI-NEUTROPHIL ANTIBODY ASSOCIATED VASCULITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OVARIAN SEROUS CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma LHGDN 15061963
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 22569336
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 21437249, 21465317, 24687377 Associate
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 35355564 Stimulate
★☆☆☆☆
Found in Text Mining only
Cancer of Digestive System Gastric Cancer BEFREE 30655735
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 12097419, 15237429, 15541044, 15807856, 26057582, 26097535, 30309319, 32941982 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 12920247
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 18956367
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 15756003 Associate
★☆☆☆☆
Found in Text Mining only
Irritable Bowel Syndrome Irritable Bowel Syndrome BEFREE 23285182
★☆☆☆☆
Found in Text Mining only