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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
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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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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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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
not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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

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