MAGEA3 (MAGE family member A3)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 4102
Gene name MAGE family member A3
Gene symbol MAGEA3
Synonyms (NCBI Gene)
CT1.3HIP8HYPDMAGE3MAGEA6
Chromosome X
Chromosome location Xq28
Summary 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 thi
miRNA miRNA information provided by mirtarbase database.
2
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (2)
miRTarBase ID miRNA Experiments Reference
MIRT004111 hsa-miR-34a-5p ImmunocytochemistryLuciferase reporter assayqRT-PCRWestern blot 21177782
MIRT004111 hsa-miR-34a-5p ImmunocytochemistryLuciferase reporter assayqRT-PCRWestern blot 21177782
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
9
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (9)
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, 32296183, 32814053, 33961781
GO:0005634 Component Nucleus IBA
GO:0005783 Component Endoplasmic reticulum IDA 12097332
GO:0010507 Process Negative regulation of autophagy IDA 31267705
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
300174 6801 ENSG00000221867
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P43357
Protein name Melanoma-associated antigen 3 (Antigen MZ2-D) (Cancer/testis antigen 1.3) (CT1.3) (MAGE-3 antigen)
Protein function Activator of ubiquitin ligase activity of RING-type zinc finger-containing E3 ubiquitin-protein ligases that acts as a repressor of autophagy (PubMed:20864041, PubMed:31267705). May enhance ubiquitin ligase activity of TRIM28 and stimulate p53/T
PDB 1QEW , 4V0P , 5BRZ , 8T9A , 9BD2
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12440 MAGE_N 5 → 96 Melanoma associated antigen family N terminal Family
PF01454 MAGE 186 → 283 MAGE family Family
Tissue specificity 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. Never expressed in kidney tumors, Leukem
Sequence
Sequence length 314
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Gene miRNA Gene ontology Other IDs Protein Associated diseases
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)
Show/Hide Unknown Diseases (1)
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
CARCINOMA, HEPATOCELLULAR — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (102)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adrenal Gland Pheochromocytoma Adrenal Gland Pheochromocytoma BEFREE 31287009
★★★★★
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 16331618
★★★★★
★☆☆☆☆
Found in Text Mining only
Bile duct carcinoma Bile duct carcinoma BEFREE 10873083
★★★★★
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm BEFREE 11205913
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 8113684
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 11720472, 15365776, 21465317, 21967632, 8113684, 9209667 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Carcinoma BEFREE 12817001, 7557134, 9854470
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 10576668, 11857021, 15633217, 15661935, 26097535, 34166362, 39849389 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Lobular Lobular carcinoma Pubtator 11720472 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma of bladder Bladder carcinoma BEFREE 11205913
★★★★★
★☆☆☆☆
Found in Text Mining only