This gene is a member of the MAGED gene family. The MAGED genes are clustered on chromosome Xp11. This gene is located in Xp11.2, a hot spot for X-linked intellectual disability (XLID). Mutations in this gene cause a form of transient antenatal Bartter's syndrome. This gene may also be involved in several types of cancer, including breast cancer and melanoma. The protein encode... See more...

Aliases for MAGED2 Gene

Aliases for MAGED2 Gene

  • MAGE Family Member D2 2 3 5
  • Melanoma-Associated Antigen D2 2 3 4
  • Hepatocellular Carcinoma-Associated Protein JCL-1 3 4
  • Breast Cancer-Associated Gene 1 Protein 3 4
  • Melanoma Antigen Family D2 2 3
  • MAGE-D2 Antigen 3 4
  • BCG-1 3 4
  • 11B6 3 4
  • BCG1 3 4
  • Hepatocellular Carcinoma-Associated Protein HCA10 2
  • Hepatocellular Carcinoma Associated Protein 2
  • Breast Cancer Associated Gene 1 2
  • Melanoma Antigen Family D, 2 3
  • MAGE-D2 3
  • BARTS5 3
  • HCA10 3

External Ids for MAGED2 Gene

Previous GeneCards Identifiers for MAGED2 Gene

  • GC0XP051686
  • GC0XP052772
  • GC0XP053439
  • GC0XP053800
  • GC0XP054717
  • GC0XP054850
  • GC0XP051883
  • GC0XP054834

Summaries for MAGED2 Gene

Entrez Gene Summary for MAGED2 Gene

  • This gene is a member of the MAGED gene family. The MAGED genes are clustered on chromosome Xp11. This gene is located in Xp11.2, a hot spot for X-linked intellectual disability (XLID). Mutations in this gene cause a form of transient antenatal Bartter's syndrome. This gene may also be involved in several types of cancer, including breast cancer and melanoma. The protein encoded by this gene is progressively recruited from the cytoplasm to the nucleoplasm during the interphase and after nucleolar stress and is thus thought to play a role in cell cycle regulation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2017]

GeneCards Summary for MAGED2 Gene

MAGED2 (MAGE Family Member D2) is a Protein Coding gene. Diseases associated with MAGED2 include Bartter Syndrome, Type 5, Antenatal, Transient and Antenatal Bartter Syndrome. Among its related pathways are Response to elevated platelet cytosolic Ca2+. An important paralog of this gene is TRO.

UniProtKB/Swiss-Prot Summary for MAGED2 Gene

  • Regulates the expression, localization to the plasma membrane and function of the sodium chloride cotransporters SLC12A1 and SLC12A3, two key components of salt reabsorption in the distal renal tubule.

Gene Wiki entry for MAGED2 Gene

Additional gene information for MAGED2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MAGED2 Gene

Genomics for MAGED2 Gene

GeneHancer (GH) Regulatory Elements for MAGED2 Gene

Promoters and enhancers for MAGED2 Gene
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
GH0XJ054807 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 +1.4 1402 3.6 ZBTB40 ZNF217 EP300 NRF1 POLR2G PHF8 ZIC2 ZBTB10 CLOCK TCF7 MAGED2 TRO PHF8 SNORA11
GH0XJ054042 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 10.8 -763.5 -763450 4.3 FOXK2 ZBTB40 ZNF217 ZSCAN5C TCF12 SIN3A POLR2G NCOR1 GTF2E2 JUND PHF8 lnc-FAM120C-3 KDM5C SMC1A ACTG1P10 APEX2 KANTR GNL3L ENSG00000233250 TSPYL2
GH0XJ054773 Enhancer 0.8 Ensembl ENCODE CraniofacialAtlas 13.7 -32.2 -32229 4.4 EP300 WT1 ZNF592 GLIS1 RFX5 ZNF449 ZBTB20 ZNF770 TRO MAGED2 piR-45012-565 lnc-PFKFB1-3 ITIH6
GH0XJ054798 Promoter 0.3 EPDnew 0.4 -9.3 -9324 0.1 ITIH6 MAGED2
GH0XJ054804 Enhancer 0.2 Ensembl 0.7 -2.9 -2898 0.6 MAGED2 ITIH6
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MAGED2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MAGED2

Top Transcription factor binding sites by QIAGEN in the MAGED2 gene promoter:
  • CUTL1
  • p53

Genomic Locations for MAGED2 Gene

Genomic Locations for MAGED2 Gene
chrX:54,807,599-54,816,015
(GRCh38/hg38)
Size:
8,417 bases
Orientation:
Plus strand
chrX:54,834,032-54,842,445
(GRCh37/hg19)
Size:
8,414 bases
Orientation:
Plus strand

Genomic View for MAGED2 Gene

Genes around MAGED2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MAGED2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MAGED2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MAGED2 Gene

Proteins for MAGED2 Gene

  • Protein details for MAGED2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UNF1-MAGD2_HUMAN
    Recommended name:
    Melanoma-associated antigen D2
    Protein Accession:
    Q9UNF1
    Secondary Accessions:
    • A6NMX0
    • O76058
    • Q5BJF3
    • Q8NAL6
    • Q9H218
    • Q9P0U9
    • Q9UM52

    Protein attributes for MAGED2 Gene

    Size:
    606 amino acids
    Molecular mass:
    64954 Da
    Quaternary structure:
    • Interacts with GNAS. May interact with DNAJB1.

    Alternative splice isoforms for MAGED2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MAGED2 Gene

Post-translational modifications for MAGED2 Gene

  • Glycosylation at Ser52
  • Ubiquitination at Lys207, Lys288, Lys330, Lys397, Lys469, Lys484, Lys494, and Lys528
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for MAGED2 Gene

Domains & Families for MAGED2 Gene

Gene Families for MAGED2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for MAGED2 Gene

Blocks:
  • MAGE protein
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MAGED2 Gene

GenScript: Design optimal peptide antigens:
  • MAGE-D2 antigen (MAGD2_HUMAN)
genes like me logo Genes that share domains with MAGED2: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for MAGED2 Gene

Function for MAGED2 Gene

Molecular function for MAGED2 Gene

UniProtKB/Swiss-Prot Function:
Regulates the expression, localization to the plasma membrane and function of the sodium chloride cotransporters SLC12A1 and SLC12A3, two key components of salt reabsorption in the distal renal tubule.

Phenotypes From GWAS Catalog for MAGED2 Gene

Gene Ontology (GO) - Molecular Function for MAGED2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25852190
genes like me logo Genes that share ontologies with MAGED2: view
genes like me logo Genes that share phenotypes with MAGED2: view

Human Phenotype Ontology for MAGED2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for MAGED2 Gene

miRTarBase miRNAs that target MAGED2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for MAGED2 Gene

Localization for MAGED2 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MAGED2 gene
Compartment Confidence
nucleus 5
cytosol 5
extracellular 4
plasma membrane 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (4)
  • Nucleoli (4)
  • Nucleoplasm (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MAGED2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm IDA --
GO:0005730 nucleolus IDA --
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with MAGED2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for MAGED2 Gene

Pathways & Interactions for MAGED2 Gene

genes like me logo Genes that share pathways with MAGED2: view

Gene Ontology (GO) - Biological Process for MAGED2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002576 platelet degranulation TAS --
GO:0007565 female pregnancy IMP 27120771
GO:0070294 renal sodium ion absorption IMP 27120771
genes like me logo Genes that share ontologies with MAGED2: view

No data available for SIGNOR curated interactions for MAGED2 Gene

Drugs & Compounds for MAGED2 Gene

No Compound Related Data Available

Transcripts for MAGED2 Gene

mRNA/cDNA for MAGED2 Gene

3 REFSEQ mRNAs :
21 NCBI additional mRNA sequence :
13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MAGED2 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b · 7c · 7d · 7e ^ 8a · 8b · 8c · 8d ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b ^
SP1: - - - - - - -
SP2: - - - - -
SP3: - -
SP4: -
SP5: - - - - - - - - - -
SP6: -
SP7: - - - - - - -
SP8: - - - -
SP9: - - - - - - - - - - - -
SP10: - - - -
SP11:
SP12: - - -
SP13:
SP14:
SP15:

ExUns: 13 ^ 14a · 14b · 14c ^ 15 ^ 16 ^ 17 ^ 18a · 18b
SP1: - -
SP2: - -
SP3: - -
SP4: - -
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:

Relevant External Links for MAGED2 Gene

GeneLoc Exon Structure for
MAGED2

Expression for MAGED2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MAGED2 Gene

Protein differential expression in normal tissues from HIPED for MAGED2 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (14.5), Nasal epithelium (10.4), and Bone (9.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MAGED2 Gene



Protein tissue co-expression partners for MAGED2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MAGED2

SOURCE GeneReport for Unigene cluster for MAGED2 Gene:

Hs.522665

mRNA Expression by UniProt/SwissProt for MAGED2 Gene:

Q9UNF1-MAGD2_HUMAN
Tissue specificity: Widely expressed. In the developing and adult kidney, expressed in the thick ascending limb of the loop of Henle and the distal convoluted tubules outside the loop.

Evidence on tissue expression from TISSUES for MAGED2 Gene

  • Lung(4.8)
  • Nervous system(4.7)
  • Skin(4.5)
  • Muscle(4.4)
  • Blood(4.3)
  • Eye(3.1)
  • Kidney(2.4)
  • Pancreas(2.2)
  • Intestine(2)
  • Thyroid gland(2)
genes like me logo Genes that share expression patterns with MAGED2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for MAGED2 Gene

Orthologs for MAGED2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for MAGED2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MAGED2 31 30
  • 99.61 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MAGED2 31 30
  • 90.93 (n)
OneToOne
dog
(Canis familiaris)
Mammalia MAGED2 31 30
  • 90.84 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Maged2 17 31 30
  • 88.23 (n)
rat
(Rattus norvegicus)
Mammalia Maged2 30
  • 88.23 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 45 (a)
ManyToMany
-- 31
  • 36 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 42 (a)
OneToMany
chicken
(Gallus gallus)
Aves MAGE 31
  • 43 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 41 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii ndnl2 31
  • 40 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 39 (a)
OneToMany
Species where no ortholog for MAGED2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MAGED2 Gene

ENSEMBL:
Gene Tree for MAGED2 (if available)
TreeFam:
Gene Tree for MAGED2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MAGED2: view image

Paralogs for MAGED2 Gene

Variants for MAGED2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MAGED2 Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
rs1114167295 Likely Pathogenic: Muscular hypotonia; Global developmental delay; Cerebellar atrophy; Dandy-Walker syndrome; Hypoplasia of the corpus callosum; Attention deficit hyperactivity disorder 54,812,168(+) TC/T FRAMESHIFT_VARIANT
rs11555928 Likely Benign: not provided 54,809,806(+) A/G MISSENSE_VARIANT
rs875989852 Pathogenic: Bartter syndrome, type 5, antenatal, transient 54,810,073(+) A/T NONSENSE
rs878854404 Pathogenic: Bartter syndrome, type 5, antenatal, transient 54,812,204(+) C/G NONSENSE
rs878854405 Pathogenic: Bartter syndrome, type 5, antenatal, transient 54,812,155(+) A/G SPLICE_ACCEPTOR_VARIANT

Additional dbSNP identifiers (rs#s) for MAGED2 Gene

Structural Variations from Database of Genomic Variants (DGV) for MAGED2 Gene

Variant ID Type Subtype PubMed ID
esv2740175 CNV deletion 23290073
nsv1151356 CNV duplication 26484159
nsv435891 CNV deletion 17901297

Variation tolerance for MAGED2 Gene

Residual Variation Intolerance Score: 56.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.53; 44.20% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MAGED2 Gene

Human Gene Mutation Database (HGMD)
MAGED2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MAGED2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MAGED2 Gene

Disorders for MAGED2 Gene

MalaCards: The human disease database

(8) MalaCards diseases for MAGED2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
bartter syndrome, type 5, antenatal, transient
  • barts5
antenatal bartter syndrome
  • bartter syndrome, furosemide type
polyhydramnios
melanoma
  • malignant melanoma
breast cancer
  • breast cancer, familial
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

MAGD2_HUMAN
  • Bartter syndrome 5, antenatal, transient (BARTS5) [MIM:300971]: An X-linked recessive form of Bartter syndrome, a disorder characterized by impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and varying degrees of hypercalciuria. BARTS5 is an antenatal form beginning in utero with marked fetal polyuria that leads to polyhydramnios and premature delivery. It is characterized by severe but transient symptoms that can resolve with age. {ECO:0000269 PubMed:27120771}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for MAGED2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with MAGED2: view

No data available for Genatlas for MAGED2 Gene

Publications for MAGED2 Gene

  1. Polyhydramnios, Transient Antenatal Bartter's Syndrome, and MAGED2 Mutations. (PMID: 27120771) Laghmani K … Kömhoff M (The New England journal of medicine 2016) 3 4 54
  2. Use of expression data and the CGEMS genome-wide breast cancer association study to identify genes that may modify risk in BRCA1/2 mutation carriers. (PMID: 18095154) Walker LC … Spurdle AB (Breast cancer research and treatment 2008) 3 41 54
  3. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 54
  4. The DNA sequence of the human X chromosome. (PMID: 15772651) Ross MT … Bentley DR (Nature 2005) 3 4 54
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54

Products for MAGED2 Gene

Sources for MAGED2 Gene