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    MAGED2 MAGE family member D2 [ Homo sapiens (human) ]

    Gene ID: 10916, updated on 3-Nov-2024

    Summary

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    Official Symbol
    MAGED2provided by HGNC
    Official Full Name
    MAGE family member D2provided by HGNC
    Primary source
    HGNC:HGNC:16353
    See related
    Ensembl:ENSG00000102316 MIM:300470; AllianceGenome:HGNC:16353
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    11B6; BCG1; BCG-1; HCA10; BARTS5; MAGE-D2
    Summary
    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]
    Expression
    Ubiquitous expression in ovary (RPKM 106.4), prostate (RPKM 98.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MAGED2 in Genome Data Viewer
    Location:
    Xp11.21
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (54807745..54816015)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (54098628..54106898)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (54834178..54842448)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene phosphoglycerate mutase family member 4 pseudogene 1 Neighboring gene inter-alpha-trypsin inhibitor heavy chain family member 6 Neighboring gene small nucleolar RNA, H/ACA box 11 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:54962395-54962556 Neighboring gene small nucleolar RNA, H/ACA box 11G Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:54977103-54977603 Neighboring gene 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 Neighboring gene trophinin

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. A new MAGE gene with ubiquitous expression does not code for known MAGE antigens recognized by T cells. Lucas S, et al. Cancer Res, 1999 Aug 15. PMID 10463614
    2. Isolation of genes overexpressed in freshly isolated breast cancer specimens. Kurt RA, et al. Breast Cancer Res Treat, 2000 Jan. PMID 10752678
    3. Identification of a novel intronic mutation of MAGED2 gene in a Chinese family with antenatal Bartter syndrome. Yan X, et al. BMC Med Genomics, 2024 Jan 18. PMID 38238844, Free PMC Article
    4. Proteomic Analysis Revealed the Potential Role of MAGE-D2 in the Therapeutic Targeting of Triple-Negative Breast Cancer. Shi X, et al. Mol Cell Proteomics, 2024 Jan. PMID 38128647, Free PMC Article
    5. MAGED2: a novel form of antenatal Bartter's syndrome. Kömhoff M, et al. Curr Opin Nephrol Hypertens, 2018 Jul. PMID 29677005

    See all (176) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Proteomic Analysis Revealed the Potential Role of MAGE-D2 in the Therapeutic Targeting of Triple-Negative Breast Cancer.
      Title: Proteomic Analysis Revealed the Potential Role of MAGE-D2 in the Therapeutic Targeting of Triple-Negative Breast Cancer.
    2. Identification of a novel intronic mutation of MAGED2 gene in a Chinese family with antenatal Bartter syndrome.
      Title: Identification of a novel intronic mutation of MAGED2 gene in a Chinese family with antenatal Bartter syndrome.
    3. MAGED2 Depletion Promotes Stress-Induced Autophagy by Impairing the cAMP/PKA Pathway.
      Title: MAGED2 Depletion Promotes Stress-Induced Autophagy by Impairing the cAMP/PKA Pathway.
    4. Reciprocal Regulation of MAGED2 and HIF-1alpha Augments Their Expression under Hypoxia: Role of cAMP and PKA Type II.
      Title: Reciprocal Regulation of MAGED2 and HIF-1α Augments Their Expression under Hypoxia: Role of cAMP and PKA Type II.
    5. MAGED2 controls vasopressin-induced aquaporin-2 expression in collecting duct cells.
      Title: MAGED2 controls vasopressin-induced aquaporin-2 expression in collecting duct cells.
    6. MAGED2 mutations explained 9% of cases of antenatal Bartter syndrome in a French cohort, and accounted for 38% of patients without other characterized mutations and for 44% of male probands of negative cases.
      Title: Prevalence of Novel MAGED2 Mutations in Antenatal Bartter Syndrome.
    7. MAGED2 loss of function is the cause of an X-linked transient form of antenatal Bartter's syndrome. Moreover, our findings showed that MAGE-D2 promotes the biogenesis of kidney membrane transporters.
      Title: MAGED2: a novel form of antenatal Bartter's syndrome.
    8. Increased expression of MAGE-D2 mRNA was associated with distant metastasis in Gastric Cancer.
      Title: The Expression of Melanoma-Associated Antigen D2 Both in Surgically Resected and Serum Samples Serves as Clinically Relevant Biomarker of Gastric Cancer Progression.
    9. MAGE-D2 is a dynamic protein whose shuttling properties could suggest a role in cell cycle regulation.
      Title: Melanoma antigen-D2: A nucleolar protein undergoing delocalization during cell cycle and after cellular stress.
    10. We found that MAGED2 mutations caused X-linked polyhydramnios with prematurity and a severe but transient form of antenatal Bartter's syndrome.
      Title: Polyhydramnios, Transient Antenatal Bartter's Syndrome, and MAGED2 Mutations.
    Submit: New GeneRIF Correction See all GeneRIFs (17)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Bartter disease type 5
    MedGen: C4310820 OMIM: 300971 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC8386

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in female pregnancy IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in renal sodium ion absorption IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in extracellular region TAS
    Traceable Author Statement
    more info
    		  
    located_in membrane HDA PubMed 
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in platelet alpha granule lumen TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    melanoma-associated antigen D2
    Names
    MAGE-D2 antigen
    breast cancer-associated gene 1 protein
    hepatocellular carcinoma-associated protein JCL-1
    melanoma antigen family D, 2
    melanoma antigen family D2

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012844.1 RefSeqGene

      Range
      5008..13278
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_014599.6 → NP_055414.2  melanoma-associated antigen D2

      See identical proteins and their annotated locations for NP_055414.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) differs in the 5' UTR, compared to variant 2. Variants 1, 2, and 3 encode the same protein.
      Source sequence(s)
      BC000304, BX647995, HY017171
      Consensus CDS
      CCDS14362.1
      UniProtKB/Swiss-Prot
      A6NMX0, O76058, Q5BJF3, Q8NAL6, Q9H218, Q9P0U9, Q9UM52, Q9UNF1
      UniProtKB/TrEMBL
      Q5H909
      Related
      ENSP00000364198.1, ENST00000375058.5
      Conserved Domains (2) summary
      pfam01454
      Location:286 → 454
      MAGE; MAGE family
      cl26557
      Location:11 → 161
      RNase_E_G; Ribonuclease E/G family

    2. NM_177433.3 → NP_803182.1  melanoma-associated antigen D2

      See identical proteins and their annotated locations for NP_803182.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) represents the longest transcript. Variants 1, 2, and 3 encode the same protein.
      Source sequence(s)
      BC000304, BX647995, DB467873
      Consensus CDS
      CCDS14362.1
      UniProtKB/Swiss-Prot
      A6NMX0, O76058, Q5BJF3, Q8NAL6, Q9H218, Q9P0U9, Q9UM52, Q9UNF1
      UniProtKB/TrEMBL
      Q5H909
      Related
      ENSP00000364209.1, ENST00000375068.6
      Conserved Domains (2) summary
      pfam01454
      Location:286 → 454
      MAGE; MAGE family
      cl26557
      Location:11 → 161
      RNase_E_G; Ribonuclease E/G family

    3. NM_201222.3 → NP_957516.1  melanoma-associated antigen D2

      See identical proteins and their annotated locations for NP_957516.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 2. Variants 1, 2, and 3 encode the same protein.
      Source sequence(s)
      BC000304, BM043994, BX647995
      Consensus CDS
      CCDS14362.1
      UniProtKB/Swiss-Prot
      A6NMX0, O76058, Q5BJF3, Q8NAL6, Q9H218, Q9P0U9, Q9UM52, Q9UNF1
      UniProtKB/TrEMBL
      Q5H909
      Related
      ENSP00000379526.1, ENST00000396224.1
      Conserved Domains (2) summary
      pfam01454
      Location:286 → 454
      MAGE; MAGE family
      cl26557
      Location:11 → 161
      RNase_E_G; Ribonuclease E/G family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      54807745..54816015
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      54098628..54106898
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UNF1.2 GenPept UniProtKB/Swiss-Prot:Q9UNF1

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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