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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 this gene family enables the same function to be expressed under different transcriptional controls. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. [provided by RefSeq, Jul 2008]
MAGEA3 (MAGE Family Member A3) is a Protein Coding gene. Diseases associated with MAGEA3 include Ocular Melanoma and Melanoma. Among its related pathways are NF-kappaB Signaling. An important paralog of this gene is MAGEA6.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH0XJ152699 | Promoter | 0.7 | EPDnew Ensembl | 600.7 | -0.1 | -141 | 2 | ENSG00000287394 LOC105373370 MAGEA3 GABRA3 RF00017-8796 GABRQ | ||
GH0XJ152637 | Promoter/Enhancer | 1.3 | EPDnew Ensembl ENCODE | 0.2 | -60.7 | -60741 | 1.2 | ZIC2 POLR2A EZH2 SCRT2 NRF1 SP2 CTBP1 ZBTB26 ZBTB17 SCRT1 | GABRQ piR-31199-404 ENSG00000287394 LOC105373370 MAGEA3 | |
GH0XJ152641 | Enhancer | 0.7 | Ensembl ENCODE | 0.2 | -57.2 | -57241 | 1 | TEAD4 RAD21 CTCF POLR2A SMARCA4 NANOG SP1 POU5F1 | MAGEA6 GABRQ piR-31199-404 ENSG00000287394 LOC105373370 MAGEA3 | |
GH0XJ152643 | Enhancer | 0.5 | ENCODE | 0.2 | -56.6 | -56607 | 0.2 | CTCF REST RAD21 SMC3 EBF1 ZNF654 | GABRQ piR-31199-404 ENSG00000287394 LOC105373370 MAGEA3 | |
GH0XJ152639 | Enhancer | 0.3 | Ensembl | 0.2 | -59.6 | -59641 | 0.2 | NFIC | GABRQ piR-31199-404 ENSG00000287394 LOC105373370 MAGEA3 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 20864041 |
GO:0089720 | caspase binding | IDA | 12097332 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005783 | endoplasmic reticulum | IDA | 12097332 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | NF-kappaB Signaling |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0010955 | negative regulation of protein processing | IDA | 12097332 |
GO:0043154 | negative regulation of cysteine-type endopeptidase activity involved in apoptotic process | IDA | 12097332 |
GO:1902236 | negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway | IMP | 12097332 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
This gene was present in the common ancestor of human and mouse.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Mouse (Mus musculus) |
Mammalia | Magea10 31 |
|
ManyToMany | |
Magea6 31 |
|
ManyToMany | |||
Magea8 31 |
|
ManyToMany | |||
1700080O16Rik 31 |
|
ManyToMany | |||
Magea5 31 |
|
ManyToMany | |||
3830417A13Rik 31 |
|
ManyToMany | |||
Magea1 31 |
|
ManyToMany | |||
Magea3 31 |
|
ManyToMany | |||
Magea2 31 |
|
ManyToMany | |||
Magea4 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 0X pos | Variation | AA Info | Type |
---|---|---|---|---|---|
720466 | Likely Benign: not provided | 152,701,298(+) | A/G | MISSENSE_VARIANT | |
723373 | Likely Benign: not provided | 152,701,299(+) | G/A | MISSENSE_VARIANT | |
723719 | Benign: not provided | 152,701,711(+) | C/T | SYNONYMOUS_VARIANT | |
726564 | Likely Benign: not provided | 152,701,175(+) | G/A | MISSENSE_VARIANT | |
731289 | Benign: not provided | 152,701,141(+) | C/T | SYNONYMOUS_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
ocular melanoma |
|
|
melanoma |
|
|
squamous cell carcinoma |
|
|
testicular cancer |
|
|
esophageal cancer |
|