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Gene: MAGED2 (MAGE family member D2) Homo sapiens
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Symbol: MAGED2
Name: MAGE family member D2
Description: 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]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 11B6; BARTS5; BCG-1; BCG1; breast cancer associated gene 1; breast cancer-associated gene 1 protein; HCA10; hepatocellular carcinoma associated protein; hepatocellular carcinoma-associated protein HCA10; hepatocellular carcinoma-associated protein JCL-1; JCL-1; MAGE-D2; MAGE-D2 antigen; MAGED; melanoma antigen family D, 2; melanoma antigen family D2; melanoma antigen, family d, 2; melanoma-associated antigen D2; MGC8386
Orthologs:
Mus musculus (house mouse) : Maged2 (melanoma antigen, family D, 2)  MGI  Alliance
Rattus norvegicus (Norway rat) : Maged2 (MAGE family member D2)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Maged2 (MAGE family member D2)
Canis lupus familiaris (dog) : MAGED2 (MAGE family member D2)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Maged2 (MAGE family member D2)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X54,807,745 - 54,816,015 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X54,834,131 - 54,842,445 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X54,850,896 - 54,859,170 (+)NCBINCBI36hg18NCBI36
Build 34X54,718,513 - 54,725,466NCBI
CeleraX58,666,731 - 58,675,005 (+)NCBI
Cytogenetic MapXp11.21NCBI
HuRefX51,883,893 - 51,892,287 (+)NCBIHuRef
CHM1_1X54,824,597 - 54,833,013 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on MAGED2
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 734427
Created: 2004-01-12
Species: Homo sapiens
Last Modified: 2019-10-08
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.