Gene Gene information from NCBI Gene database.
Entrez ID 139081
Gene name MAGE family member C3
Gene symbol MAGEC3
Synonyms (NCBI Gene)
CT7.2HCA2MAGE-C3MAGEC4
Chromosome X
Chromosome location Xq27.2
Summary This gene is a member of the MAGEC gene family. The members of this family are not expressed in normal tissues, except for testis, and are expressed in tumors of various histological types. The MAGEC genes are clustered on chromosome Xq26-q27. Two transcr
miRNA miRNA information provided by mirtarbase database.
1
miRTarBase ID miRNA Experiments Reference
MIRT028993 hsa-miR-26b-5p Microarray 19088304
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
3
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IBA
GO:0005515 Function Protein binding IPI 32296183, 32814053
GO:0005634 Component Nucleus IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
300469 23798 ENSG00000165509
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8TD91
Protein name Melanoma-associated antigen C3 (Cancer/testis antigen 7.2) (CT7.2) (Hepatocellular carcinoma-associated antigen 2) (MAGE-C3 antigen)
Family and domains
Tissue specificity TISSUE SPECIFICITY: Expressed in testis. Not expressed in other normal tissues, but is expressed in tumors of different histological origins. {ECO:0000269|PubMed:10861452}.
Sequence
MLLPCHWVLDATFSDGSLGQWVKNTCATYALSPVVLPPQPQPRKKATDKDYSAFHLGHLR
EVRLFLRGGTSDQRMDSLVLCPTYFKLWRTLSGSPGLQLSDLHFGSQPEGKFSLRRAVSV
KQREEPQDWPLNEKRTLWKDSDLPTWRRGTGYTLSLPAVSPGKRLWGEKAGSLPESEPLF
TYTLDEKVDKLVQFLLLKYQAKEPLTRAEMQMNVINTYTGYFPMIFRKAREFIEILFGIS
LTEVDPDHFYVFVNTLDLTCEGSLSDEQGMPQNRLLILILSVIFIKGNCASEEVIWEVLN
AIGPWSALAGFADVLSRLALWESEGPEAFCEESGLRSAEGSVLDLANPQGLAGHRQEDGR
RGLTEASPQQKKGGEDEDMPAAGMPPLPQSPPEIPPQGPPKISPQGPPQSPPQSPLDSCS
SPLLWTRLDEESSSEEEDTATWHALPESESLPRYALDEKVAELVQFLLLKYQTKEPVTKA
EMLTTVIKKYKDYFPMIFGKAHEFIELIFGIALTDMDPDNHSYFFEDTLDLTYEGSLIDD
QGMPKNCLLILILSMIFIKGSCVPEEVIWEVLSAIGPIQRPAREVLEFLSKLSSIIPSAF
PSWYMDALKDMEDRAQAIIDTTDDATAMASASPSVMSTNFCPE
Sequence length 643
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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
MAGEC3-related disorder Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS 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
Arteriosclerosis Arteriosclerosis BEFREE 30270326
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 30270326
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorder Autism Pubtator 38057346 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 32941982 Associate
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent Diabetes Mellitus GWASCAT_DG 30130595
★☆☆☆☆
Found in Text Mining only
Diabetic Retinopathy Diabetic Retinopathy BEFREE 24215154
★☆☆☆☆
Found in Text Mining only
Fibroid Tumor Leiomyoma BEFREE 29308311
★☆☆☆☆
Found in Text Mining only
Glaucoma Glaucoma BEFREE 28161252, 28728897, 28887000, 29462772, 29571155, 31237458, 31539777
★☆☆☆☆
Found in Text Mining only
Metabolic Bone Disorder Metabolic Bone Disorder BEFREE 18189416, 19415900
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 28802125, 28965419
★☆☆☆☆
Found in Text Mining only