Human Gene MAGED2 (ENST00000375068.6_5) from GENCODE V47lift37
  Description: MAGE family member D2, transcript variant 2 (from RefSeq NM_177433.3)
Gencode Transcript: ENST00000375068.6_5
Gencode Gene: ENSG00000102316.17_8
Transcript (Including UTRs)
   Position: hg19 chrX:54,834,178-54,842,448 Size: 8,271 Total Exon Count: 13 Strand: +
Coding Region
   Position: hg19 chrX:54,835,765-54,842,115 Size: 6,351 Coding Exon Count: 11 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chrX:54,834,178-54,842,448)mRNA (may differ from genome)Protein (606 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: MAGD2_HUMAN
DESCRIPTION: RecName: Full=Melanoma-associated antigen D2; AltName: Full=11B6; AltName: Full=Breast cancer-associated gene 1 protein; Short=BCG-1; AltName: Full=Hepatocellular carcinoma-associated protein JCL-1; AltName: Full=MAGE-D2 antigen;
TISSUE SPECIFICITY: Widely expressed in normal tissues.
PTM: Phosphorylated upon DNA damage, probably by ATM or ATR.
SIMILARITY: Contains 1 MAGE domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: MAGED2
Diseases sorted by gene-association score: bartter syndrome, type 5, antenatal, transient* (1300), antenatal bartter syndrome* (268), polyhydramnios (23), melanoma (8), breast cancer (4), intellectual disability (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 142.89 RPKM in Pituitary
Total median expression: 2801.33 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -18.7087-0.215 Picture PostScript Text
3' UTR -21.30143-0.149 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR002190 - MAGE

Pfam Domains:
PF01454 - MAGE family

SCOP Domains:
111283 - Putative modulator of DNA gyrase, PmbA/TldD

ModBase Predicted Comparative 3D Structure on Q9UNF1
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding

Biological Process:
GO:0002576 platelet degranulation
GO:0007565 female pregnancy
GO:0070294 renal sodium ion absorption

Cellular Component:
GO:0005576 extracellular region
GO:0005634 nucleus
GO:0005730 nucleolus
GO:0005829 cytosol
GO:0016020 membrane
GO:0031093 platelet alpha granule lumen


-  Descriptions from all associated GenBank mRNAs
  LF211691 - JP 2014500723-A/19194: Polycomb-Associated Non-Coding RNAs.
AK297910 - Homo sapiens cDNA FLJ57753 complete cds, highly similar to Melanoma-associated antigen D2.
AK092463 - Homo sapiens cDNA FLJ35144 fis, clone PLACE6009835, highly similar to Human hepatocellular carcinoma associated protein (JCL-1) mRNA.
AX747558 - Sequence 1083 from Patent EP1308459.
AF126181 - Homo sapiens breast cancer-associated gene 1 protein (BCG1) mRNA, complete cds.
AF128528 - Homo sapiens clone fl4 breast cancer associated gene 1 protein (BCG1) mRNA, complete cds.
AF128527 - Homo sapiens clone snt1 breast cancer associated gene 1 protein (BCG1) mRNA, complete cds.
AK301821 - Homo sapiens cDNA FLJ58171 complete cds, moderately similar to Melanoma-associated antigen D2.
U92544 - Human hepatocellular carcinoma associated protein (JCL-1) mRNA, complete cds.
BC091503 - Homo sapiens melanoma antigen family D, 2, mRNA (cDNA clone MGC:111101 IMAGE:30529545), complete cds.
AK098645 - Homo sapiens cDNA FLJ25779 fis, clone TST06596.
BC000304 - Homo sapiens melanoma antigen family D, 2, mRNA (cDNA clone MGC:8386 IMAGE:2820442), complete cds.
AK301599 - Homo sapiens cDNA FLJ61436 complete cds, highly similar to Melanoma-associated antigen D2.
AF320070 - Homo sapiens hepatocellular carcinoma-associated protein HCA10 mRNA, complete cds.
BX647995 - Homo sapiens mRNA; cDNA DKFZp686P0752 (from clone DKFZp686P0752).
AJ293618 - Homo sapiens mRNA for hypothetical protein 11B6, clone XP11B6.
JD441340 - Sequence 422364 from Patent EP1572962.
AB385061 - Synthetic construct DNA, clone: pF1KB5184, Homo sapiens MAGED2 gene for melanoma-associated antigen D2, complete cds, without stop codon, in Flexi system.
DQ891412 - Synthetic construct clone IMAGE:100004042; FLH176675.01X; RZPDo839G01122D melanoma antigen family D, 2 (MAGED2) gene, encodes complete protein.
DQ894587 - Synthetic construct Homo sapiens clone IMAGE:100009047; FLH176671.01L; RZPDo839G01121D melanoma antigen family D, 2 (MAGED2) gene, encodes complete protein.
DQ896820 - Synthetic construct Homo sapiens clone IMAGE:100011280; FLH263678.01L; RZPDo839G02121D melanoma antigen family D, 2 (MAGED2) gene, encodes complete protein.
KJ893164 - Synthetic construct Homo sapiens clone ccsbBroadEn_02558 MAGED2 gene, encodes complete protein.
LF382521 - JP 2014500723-A/190024: Polycomb-Associated Non-Coding RNAs.
LF382520 - JP 2014500723-A/190023: Polycomb-Associated Non-Coding RNAs.
AF148815 - Homo sapiens prostate associated MAGE-like PAM mRNA, partial cds.
AF320907 - Homo sapiens MAGE-D2 (MAGED2) mRNA, partial cds.
AK091003 - Homo sapiens cDNA FLJ33684 fis, clone BRAWH2002630, highly similar to Human hepatocellular carcinoma associated protein (JCL-1) mRNA.
LF382516 - JP 2014500723-A/190019: Polycomb-Associated Non-Coding RNAs.
JD310060 - Sequence 291084 from Patent EP1572962.
JD306708 - Sequence 287732 from Patent EP1572962.
MA447268 - JP 2018138019-A/19194: Polycomb-Associated Non-Coding RNAs.
MA618098 - JP 2018138019-A/190024: Polycomb-Associated Non-Coding RNAs.
MA618097 - JP 2018138019-A/190023: Polycomb-Associated Non-Coding RNAs.
MA618093 - JP 2018138019-A/190019: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9UNF1 (Reactome details) participates in the following event(s):

R-HSA-481007 Exocytosis of platelet alpha granule contents
R-HSA-114608 Platelet degranulation
R-HSA-76005 Response to elevated platelet cytosolic Ca2+
R-HSA-76002 Platelet activation, signaling and aggregation
R-HSA-109582 Hemostasis

-  Other Names for This Gene
  Alternate Gene Symbols: A6NMX0, BCG1, ENST00000375068.1, ENST00000375068.2, ENST00000375068.3, ENST00000375068.4, ENST00000375068.5, MAGD2_HUMAN, NM_177433, O76058, Q5BJF3, Q8NAL6, Q9H218, Q9P0U9, Q9UM52, Q9UNF1, uc318mai.1, uc318mai.2
UCSC ID: ENST00000375068.6_5
RefSeq Accession: NM_177433.3
Protein: Q9UNF1 (aka MAGD2_HUMAN or MGD2_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.