Format

Send to:

Choose Destination

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

Gene ID: 10916, updated on 10-Dec-2019

Summary

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
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

Genomic context

See MAGED2 in Genome Data Viewer
Location:
Xp11.21
Exon count:
15
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (54807745..54816015)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (54834131..54842445)

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 small nucleolar RNA, H/ACA box 11G Neighboring gene 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 Neighboring gene trophinin

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from BioSystems

  • Hemostasis, organism-specific biosystem (from REACTOME)
    Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
  • Platelet activation, signaling and aggregation, organism-specific biosystem (from REACTOME)
    Platelet activation, signaling and aggregation, organism-specific biosystemPlatelet activation begins with the initial binding of adhesive ligands and of the excitatory platelet agonists (released or generated at the sites of vascular trauma) to cognate receptors on the pla...
  • Platelet degranulation, organism-specific biosystem (from REACTOME)
    Platelet degranulation, organism-specific biosystemPlatelets function as exocytotic cells, secreting a plethora of effector molecules at sites of vascular injury. Platelets contain a number of distinguishable storage granules including alpha granules...
  • Response to elevated platelet cytosolic Ca2+, organism-specific biosystem (from REACTOME)
    Response to elevated platelet cytosolic Ca2+, organism-specific biosystemActivation of phospholipase C enzymes results in the generation of second messengers of the phosphatidylinositol pathway. The events resulting from this pathway are a rise in intracellular calcium an...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC8386

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
female pregnancy IMP
Inferred from Mutant Phenotype
more info
PubMed 
platelet degranulation TAS
Traceable Author Statement
more info
 
renal sodium ion absorption IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cytosol IDA
Inferred from Direct Assay
more info
 
extracellular region TAS
Traceable Author Statement
more info
 
membrane HDA PubMed 
nucleolus IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
platelet alpha granule lumen TAS
Traceable Author Statement
more info
 

General protein information

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)

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_014599.6NP_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
    Q9UNF1
    UniProtKB/TrEMBL
    A0A024R9Y7
    Related
    ENSP00000364198.1, ENST00000375058.5
    Conserved Domains (2) summary
    pfam01454
    Location:286454
    MAGE; MAGE family
    cl26557
    Location:11161
    RNase_E_G; Ribonuclease E/G family
  2. NM_177433.3NP_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
    Q9UNF1
    UniProtKB/TrEMBL
    A0A024R9Y7
    Related
    ENSP00000364209.1, ENST00000375068.6
    Conserved Domains (2) summary
    pfam01454
    Location:286454
    MAGE; MAGE family
    cl26557
    Location:11161
    RNase_E_G; Ribonuclease E/G family
  3. NM_201222.3NP_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
    Q9UNF1
    UniProtKB/TrEMBL
    A0A024R9Y7
    Related
    ENSP00000379526.1, ENST00000396224.1
    Conserved Domains (2) summary
    pfam01454
    Location:286454
    MAGE; MAGE family
    cl26557
    Location:11161
    RNase_E_G; Ribonuclease E/G family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

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