Gene Gene information from NCBI Gene database.
Entrez ID 139599
Gene name MAGE family member E2
Gene symbol MAGEE2
Synonyms (NCBI Gene)
HCA3
Chromosome X
Chromosome location Xq13.3
Summary This gene encodes a member of the E subfamily of MAGE (melanoma antigen-encoding gene) gene family. The gene is intronless and the encoded protein has two of the MAGE domains which are characteristic of MAGE family proteins. [provided by RefSeq, Sep 2011]
miRNA miRNA information provided by mirtarbase database.
9
miRTarBase ID miRNA Experiments Reference
MIRT1125752 hsa-miR-4495 CLIP-seq
MIRT1125753 hsa-miR-607 CLIP-seq
MIRT1125754 hsa-miR-656 CLIP-seq
MIRT2035531 hsa-miR-1260 CLIP-seq
MIRT2035532 hsa-miR-1260b CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
5
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IBA
GO:0005515 Function Protein binding IPI 28514442, 33961781
GO:0005634 Component Nucleus IBA
GO:0007420 Process Brain development IEA
GO:0048854 Process Brain morphogenesis IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
300760 24935 ENSG00000186675
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8TD90
Protein name Melanoma-associated antigen E2 (Hepatocellular carcinoma-associated protein 3) (MAGE-E2 antigen)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01454 MAGE 95 264 MAGE family Family
Sequence
MSLVSQNARHCSAEITADYGDGRGEIQATNASGSPTSMLVVDAPQCPQAPINSQCVNTSQ
AVQDPNDLEVLIDEQSRRLGALRVHDPLEDRSIALVNFMRMKSQTEGSIQQSEMLEFLRE
YSDQFPEILRRASAHLDQVFGLNLRVIDPQADTYNLVSKRGFQITDRIAESLDMPKASLL
ALVLGHILLNGNRAREASIWDLLLKVDMWDKPQRINNLFGNTRNLLTTDFVCMRFLEYWP
VYGTNPLEFEFLWGSRAHREITKM
EALKFVSDAHDEEPWSWPEEYNKALEGDKTKERSLT
AGLEFWSEDTMNDKANDLVQLAISVTEEMLPIHQDELLAHTGKEFEDVFPNILNRATLIL
DMFYGLSLIEVDTSEHIYLLVQQPESEEEQVMLESLGRPTQEYVMPILGLIFLMGNRVKE
ANVWNLLRRFSVDVGRKHSITRKLMRQRYLECRPLSYSNPVEYELLWGPRAHHETIKMKV
LEYMARLYRKRPQNWPEQYREAVEDEEARAKSEATIMFFLDPT
Sequence length 523
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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
MALE INFERTILITY WITH AZOOSPERMIA OR OLIGOZOOSPERMIA DUE TO SINGLE GENE MUTATION 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
Behcet Syndrome Behcet disease Pubtator 26785681 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 25839160
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 26808385 Associate
★☆☆☆☆
Found in Text Mining only
Funisitis (disorder) Funisitis BEFREE 27450900
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of breast Breast Cancer BEFREE 25839160
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 25839160
★☆☆☆☆
Found in Text Mining only
Obesity Obesity BEFREE 30270326
★☆☆☆☆
Found in Text Mining only