MAGED2 (MAGE family member D2) - Rat Genome Database

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Gene: MAGED2 (MAGE family member D2) Homo sapiens
Analyze
Symbol: MAGED2
Name: MAGE family member D2
RGD ID: 734427
HGNC Page HGNC
Description: Involved in female pregnancy and renal sodium ion absorption. Localizes to cytosol; nucleolus; and nucleoplasm. Implicated in Bartter disease type 5.
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
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX54,807,599 - 54,816,015 (+)EnsemblGRCh38hg38GRCh38
GRCh38X54,807,745 - 54,816,015 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X54,834,178 - 54,842,448 (+)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     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

References - curated
1. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10463614   PMID:10752678   PMID:11856887   PMID:12477932   PMID:14702039   PMID:15162511   PMID:15302935   PMID:15465002   PMID:15489334   PMID:15772651   PMID:16169070   PMID:17081983  
PMID:17643375   PMID:17912449   PMID:18095154   PMID:19946888   PMID:20237496   PMID:20467437   PMID:20562859   PMID:21145461   PMID:21364888   PMID:21726808   PMID:22678362   PMID:22791814  
PMID:22863883   PMID:22939629   PMID:23254330   PMID:23443559   PMID:23602568   PMID:23667531   PMID:24457600   PMID:25036637   PMID:25315684   PMID:25324306   PMID:25349213   PMID:25743330  
PMID:25852190   PMID:25921289   PMID:25963833   PMID:26186194   PMID:26446488   PMID:26496610   PMID:26549023   PMID:26673895   PMID:26705694   PMID:26752685   PMID:26760575   PMID:26777405  
PMID:26972000   PMID:27120771   PMID:27173435   PMID:27248496   PMID:27342126   PMID:27377895   PMID:27591049   PMID:28065597   PMID:28298427   PMID:28302793   PMID:28378594   PMID:28514442  
PMID:28712289   PMID:28846114   PMID:29117863   PMID:29128334   PMID:29146702   PMID:29229926   PMID:29295817   PMID:29346117   PMID:29378950   PMID:29467282   PMID:29490077   PMID:29507755  
PMID:29509190   PMID:29568061   PMID:29581427   PMID:29677005   PMID:29802200   PMID:29845934   PMID:29987050   PMID:29991511   PMID:30367141   PMID:30459231   PMID:30462309   PMID:30737378  
PMID:30940648   PMID:30948266   PMID:31048545   PMID:31073040   PMID:31091453   PMID:31240132   PMID:31300519   PMID:31586073   PMID:31685992   PMID:32041737   PMID:32203420   PMID:32457219  
PMID:32877691   PMID:33001583  


Genomics

Comparative Map Data
MAGED2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX54,807,599 - 54,816,015 (+)EnsemblGRCh38hg38GRCh38
GRCh38X54,807,745 - 54,816,015 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X54,834,178 - 54,842,448 (+)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
Maged2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X149,589,417 - 149,597,358 (-)NCBIGRCm39mm39
GRCm39 EnsemblX149,589,366 - 149,597,341 (-)Ensembl
GRCm38X150,806,421 - 150,814,362 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX150,806,370 - 150,814,345 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X147,240,964 - 147,248,825 (-)NCBIGRCm37mm9NCBIm37
MGSCv36X146,147,137 - 146,154,998 (-)NCBImm8
CeleraX133,569,891 - 133,573,893 (-)NCBICelera
Cytogenetic MapXF3NCBI
Maged2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X19,733,593 - 19,741,769 (-)NCBI
Rnor_6.0 Ensembl533,174,542 - 33,182,715 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0533,174,539 - 33,182,715 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0537,832,720 - 37,840,896 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X40,056,332 - 40,064,505 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1X40,109,805 - 40,116,420 (-)NCBI
CeleraX19,993,517 - 20,001,690 (-)NCBICelera
Cytogenetic Map5q13NCBI
Maged2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554752,038,189 - 2,046,290 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554752,038,189 - 2,046,240 (-)NCBIChiLan1.0ChiLan1.0
MAGED2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X55,241,161 - 55,249,577 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX55,241,161 - 55,249,256 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X47,010,009 - 47,018,370 (+)NCBIMhudiblu_PPA_v0panPan3
MAGED2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X46,502,459 - 46,510,990 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX46,502,381 - 46,509,436 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX37,893,821 - 37,902,325 (-)NCBI
ROS_Cfam_1.0X50,062,517 - 50,071,011 (-)NCBI
UMICH_Zoey_3.1X46,330,703 - 46,339,207 (+)NCBI
UNSW_CanFamBas_1.0X46,770,546 - 46,779,050 (+)NCBI
Maged2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X39,299,605 - 39,307,769 (+)NCBI
SpeTri2.0NW_0049367511,639,276 - 1,647,494 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MAGED2
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X50,898,166 - 50,906,667 (+)NCBI
ChlSab1.1 EnsemblX50,898,324 - 50,906,260 (+)Ensembl
Maged2
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462491037,155 - 47,711 (+)NCBI

Position Markers
RH64607  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X54,840,270 - 54,840,372UniSTSGRCh37
Build 36X54,856,995 - 54,857,097RGDNCBI36
CeleraX58,672,830 - 58,672,932RGD
Cytogenetic MapXp11.2UniSTS
Cytogenetic MapXp11.21UniSTS
HuRefX51,890,033 - 51,890,135UniSTS
DXS7547  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X54,842,086 - 54,842,400UniSTSGRCh37
Build 36X54,858,811 - 54,859,125RGDNCBI36
CeleraX58,674,646 - 58,674,960RGD
Cytogenetic MapXp11.2UniSTS
HuRefX51,891,928 - 51,892,242UniSTS
DXS7159  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X54,842,269 - 54,842,446UniSTSGRCh37
Build 36X54,858,994 - 54,859,171RGDNCBI36
CeleraX58,674,829 - 58,675,006RGD
Cytogenetic MapXp11.2UniSTS
HuRefX51,892,111 - 51,892,288UniSTS
Whitehead-YAC Contig MapX UniSTS
RH77912  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X54,841,854 - 54,842,007UniSTSGRCh37
Build 36X54,858,579 - 54,858,732RGDNCBI36
CeleraX58,674,414 - 58,674,567RGD
Cytogenetic MapXp11.2UniSTS
GeneMap99-GB4 RH MapX171.7UniSTS
RH68550  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X54,841,420 - 54,841,653UniSTSGRCh37
Build 36X54,858,145 - 54,858,378RGDNCBI36
CeleraX58,673,980 - 58,674,213RGD
Cytogenetic MapXp11.2UniSTS
HuRefX51,891,183 - 51,891,416UniSTS
GeneMap99-GB4 RH MapX176.12UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2765
Count of miRNA genes:853
Interacting mature miRNAs:1020
Transcripts:ENST00000218439, ENST00000347546, ENST00000375053, ENST00000375058, ENST00000375060, ENST00000375062, ENST00000375068, ENST00000396224, ENST00000463787, ENST00000485483, ENST00000487463, ENST00000487482, ENST00000497484
Prediction methods:Microtar, Miranda, Pita, Pita,Microtar, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 3 1 7 29 1
Medium 2432 2889 1710 606 1869 449 4352 2171 3725 412 1424 1610 174 1 1204 2787 4
Low 5 102 16 18 82 16 1 25 9 7 3 1 2 2
Below cutoff 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012844 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_014599 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_177433 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_201222 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF126181 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF128527 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF128528 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF148815 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF320907 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ293618 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK091003 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092463 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK098645 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297910 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301599 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301821 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000304 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC091503 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM043994 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM803170 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ423605 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647995 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB467873 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY017171 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U92544 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z98046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000218439   ⟹   ENSP00000218439
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX54,808,338 - 54,815,694 (+)Ensembl
RefSeq Acc Id: ENST00000347546   ⟹   ENSP00000336962
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX54,807,747 - 54,816,007 (+)Ensembl
RefSeq Acc Id: ENST00000375053   ⟹   ENSP00000364193
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX54,807,599 - 54,815,694 (+)Ensembl
RefSeq Acc Id: ENST00000375058   ⟹   ENSP00000364198
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX54,808,371 - 54,816,007 (+)Ensembl
RefSeq Acc Id: ENST00000375060   ⟹   ENSP00000364200
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX54,808,371 - 54,816,012 (+)Ensembl
RefSeq Acc Id: ENST00000375068   ⟹   ENSP00000364209
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX54,807,745 - 54,816,015 (+)Ensembl
RefSeq Acc Id: ENST00000396224   ⟹   ENSP00000379526
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX54,809,060 - 54,815,694 (+)Ensembl
RefSeq Acc Id: ENST00000463787
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX54,807,755 - 54,811,644 (+)Ensembl
RefSeq Acc Id: ENST00000485483
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX54,809,097 - 54,810,132 (+)Ensembl
RefSeq Acc Id: ENST00000487463
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX54,812,173 - 54,813,334 (+)Ensembl
RefSeq Acc Id: ENST00000487482
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX54,811,532 - 54,813,161 (+)Ensembl
RefSeq Acc Id: ENST00000497484
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX54,809,110 - 54,811,130 (+)Ensembl
RefSeq Acc Id: ENST00000627068   ⟹   ENSP00000486563
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX54,807,599 - 54,815,694 (+)Ensembl
RefSeq Acc Id: NM_014599   ⟹   NP_055414
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X54,808,346 - 54,816,015 (+)NCBI
GRCh37X54,834,131 - 54,842,445 (+)NCBI
Build 36X54,851,522 - 54,859,170 (+)NCBI Archive
CeleraX58,666,731 - 58,675,005 (+)RGD
HuRefX51,883,754 - 51,892,290 (+)NCBI
CHM1_1X54,825,336 - 54,833,013 (+)NCBI
Sequence:
RefSeq Acc Id: NM_177433   ⟹   NP_803182
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X54,807,745 - 54,816,015 (+)NCBI
GRCh37X54,834,131 - 54,842,445 (+)NCBI
Build 36X54,850,896 - 54,859,170 (+)NCBI Archive
CeleraX58,666,731 - 58,675,005 (+)RGD
HuRefX51,883,754 - 51,892,290 (+)NCBI
CHM1_1X54,824,597 - 54,833,013 (+)NCBI
Sequence:
RefSeq Acc Id: NM_201222   ⟹   NP_957516
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X54,809,081 - 54,816,015 (+)NCBI
GRCh37X54,834,131 - 54,842,445 (+)NCBI
Build 36X54,852,218 - 54,859,170 (+)NCBI Archive
CeleraX58,666,731 - 58,675,005 (+)RGD
HuRefX51,883,754 - 51,892,290 (+)NCBI
CHM1_1X54,826,058 - 54,833,013 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_803182   ⟸   NM_177433
- UniProtKB: Q9UNF1 (UniProtKB/Swiss-Prot),   A0A024R9Y7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_055414   ⟸   NM_014599
- UniProtKB: Q9UNF1 (UniProtKB/Swiss-Prot),   A0A024R9Y7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_957516   ⟸   NM_201222
- UniProtKB: Q9UNF1 (UniProtKB/Swiss-Prot),   A0A024R9Y7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000336962   ⟸   ENST00000347546
RefSeq Acc Id: ENSP00000364193   ⟸   ENST00000375053
RefSeq Acc Id: ENSP00000364198   ⟸   ENST00000375058
RefSeq Acc Id: ENSP00000364200   ⟸   ENST00000375060
RefSeq Acc Id: ENSP00000364209   ⟸   ENST00000375068
RefSeq Acc Id: ENSP00000218439   ⟸   ENST00000218439
RefSeq Acc Id: ENSP00000486563   ⟸   ENST00000627068
RefSeq Acc Id: ENSP00000379526   ⟸   ENST00000396224
Protein Domains
MAGE

Promoters
RGD ID:13605410
Promoter ID:EPDNEW_H28889
Type:initiation region
Name:MAGED2_3
Description:MAGE family member D2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28891  EPDNEW_H28890  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X54,807,569 - 54,807,629EPDNEW
RGD ID:13605414
Promoter ID:EPDNEW_H28890
Type:initiation region
Name:MAGED2_1
Description:MAGE family member D2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28889  EPDNEW_H28891  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X54,807,745 - 54,807,805EPDNEW
RGD ID:13605412
Promoter ID:EPDNEW_H28891
Type:initiation region
Name:MAGED2_2
Description:MAGE family member D2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28889  EPDNEW_H28890  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X54,808,378 - 54,808,438EPDNEW
RGD ID:6808707
Promoter ID:HG_KWN:66972
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   CD4+TCell_2Hour
Transcripts:ENST00000347546,   ENST00000375053,   ENST00000375068,   OTTHUMT00000056828
Position:
Human AssemblyChrPosition (strand)Source
Build 36X54,850,661 - 54,851,161 (+)MPROMDB
RGD ID:6808543
Promoter ID:HG_KWN:66973
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:ENST00000218439,   ENST00000343474,   ENST00000375062,   NM_014599,   UC004DTM.1,   UC010NKC.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X54,850,756 - 54,851,256 (+)MPROMDB
RGD ID:6809017
Promoter ID:HG_KWN:66974
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000396224,   NM_201222,   OTTHUMT00000056820,   OTTHUMT00000056826,   UC004DTO.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X54,851,661 - 54,852,297 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp11.22-11.21(chrX:51664377-58055036)x3 copy number gain See cases [RCV000052392] ChrX:51664377..58055036 [GRCh38]
ChrX:51407309..58081470 [GRCh37]
ChrX:51424049..58098195 [NCBI36]
ChrX:Xp11.22-11.21
pathogenic
GRCh38/hg38 Xp11.22-11.1(chrX:52363196-58455952)x2 copy number gain See cases [RCV000052393] ChrX:52363196..58455952 [GRCh38]
ChrX:52175778..58482385 [GRCh37]
ChrX:52123054..58499110 [NCBI36]
ChrX:Xp11.22-11.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1 copy number loss See cases [RCV000053005] ChrX:675360..100368517 [GRCh38]
ChrX:636095..99623515 [GRCh37]
ChrX:556095..99510171 [NCBI36]
ChrX:Xp22.33-q22.1
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:2769041-58055036)x1 copy number loss See cases [RCV000053007] ChrX:2769041..58055036 [GRCh38]
ChrX:2687082..58081470 [GRCh37]
ChrX:2697082..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:26102-57302794)x1 copy number loss See cases [RCV000052990] ChrX:26102..57302794 [GRCh38]
ChrX:76102..57329227 [GRCh37]
ChrX:16102..57345952 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1 copy number loss See cases [RCV000052994] ChrX:253129..58271563 [GRCh38]
ChrX:169796..58297997 [GRCh37]
ChrX:109796..58314722 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10679-55550898)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|See cases [RCV000052971] ChrX:10679..55550898 [GRCh38]
ChrX:60679..55577331 [GRCh37]
ChrX:679..55594056 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q11.1(chrX:10701-62712219)x1 copy number loss See cases [RCV000134568] ChrX:10701..62712219 [GRCh38]
ChrX:60701..61931689 [GRCh37]
ChrX:701..61848414 [NCBI36]
ChrX:Xp22.33-q11.1
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1 copy number loss See cases [RCV000134026] ChrX:10701..58055053 [GRCh38]
ChrX:60701..58081487 [GRCh37]
ChrX:701..58098212 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
NM_177433.3(MAGED2):c.130A>G (p.Lys44Glu) single nucleotide variant not provided [RCV000513922] ChrX:54809806 [GRCh38]
ChrX:54836239 [GRCh37]
ChrX:Xp11.21
benign|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.22-q21.31(chrX:53985575-92203108)x1 copy number loss See cases [RCV000135306] ChrX:53985575..92203108 [GRCh38]
ChrX:54012008..91458107 [GRCh37]
ChrX:54028733..91344763 [NCBI36]
ChrX:Xp11.22-q21.31
pathogenic
GRCh38/hg38 Xp11.22-11.21(chrX:53764152-58014767)x2 copy number gain See cases [RCV000135877] ChrX:53764152..58014767 [GRCh38]
ChrX:53790650..58041201 [GRCh37]
ChrX:53807375..58057926 [NCBI36]
ChrX:Xp11.22-11.21
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.23-11.21(chrX:48344666-58055036)x3 copy number gain See cases [RCV000135958] ChrX:48344666..58055036 [GRCh38]
ChrX:48204101..58081470 [GRCh37]
ChrX:48089045..58098195 [NCBI36]
ChrX:Xp11.23-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1 copy number loss See cases [RCV000137552] ChrX:10701..58055036 [GRCh38]
ChrX:60701..58081470 [GRCh37]
ChrX:701..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp11.23-q22.1(chrX:49100536-102174742)x1 copy number loss See cases [RCV000137414] ChrX:49100536..102174742 [GRCh38]
ChrX:48957474..101429714 [GRCh37]
ChrX:48844418..101316370 [NCBI36]
ChrX:Xp11.23-q22.1
pathogenic|likely benign
GRCh38/hg38 Xp11.22-q11.1(chrX:53750365-63089185)x2 copy number gain See cases [RCV000137412] ChrX:53750365..63089185 [GRCh38]
ChrX:53776863..62203737 [GRCh37]
ChrX:53793588..62225380 [NCBI36]
ChrX:Xp11.22-q11.1
pathogenic
GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3 copy number gain See cases [RCV000137137] ChrX:10679..76420505 [GRCh38]
ChrX:60679..75640898 [GRCh37]
ChrX:679..75557302 [NCBI36]
ChrX:Xp22.33-q13.3
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3
pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1 copy number loss See cases [RCV000139343] ChrX:10701..58517661 [GRCh38]
ChrX:60701..58544094 [GRCh37]
ChrX:701..58560819 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1 copy number loss See cases [RCV000139352] ChrX:10701..88318651 [GRCh38]
ChrX:60701..87573652 [GRCh37]
ChrX:701..87460308 [NCBI36]
ChrX:Xp22.33-q21.31
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.22-q24(chrX:50289384-119297604) copy number loss See cases [RCV000141742] ChrX:50289384..119297604 [GRCh38]
ChrX:50032384..118431567 [GRCh37]
ChrX:50049124..118315595 [NCBI36]
ChrX:Xp11.22-q24
pathogenic
GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1 copy number loss See cases [RCV000142334] ChrX:251880..66445845 [GRCh38]
ChrX:168547..65665687 [GRCh37]
ChrX:108547..65582412 [NCBI36]
ChrX:Xp22.33-q12
pathogenic
GRCh38/hg38 Xp11.22-11.1(chrX:51654792-58469500)x1 copy number loss See cases [RCV000142036] ChrX:51654792..58469500 [GRCh38]
ChrX:51397726..58495933 [GRCh37]
ChrX:51414466..58512658 [NCBI36]
ChrX:Xp11.22-11.1
pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24
pathogenic
GRCh38/hg38 Xp11.22-q11.2(chrX:52809123-65305544)x3 copy number gain See cases [RCV000142756] ChrX:52809123..65305544 [GRCh38]
ChrX:52838147..64525424 [GRCh37]
ChrX:52854872..64442149 [NCBI36]
ChrX:Xp11.22-q11.2
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:251879-56428859)x1 copy number loss See cases [RCV000143130] ChrX:251879..56428859 [GRCh38]
ChrX:168546..56455292 [GRCh37]
ChrX:108546..56472017 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1 copy number loss See cases [RCV000239814] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_177433.3(MAGED2):c.397A>T (p.Lys133Ter) single nucleotide variant Bartter syndrome, type 5, antenatal, transient [RCV000211438] ChrX:54810073 [GRCh38]
ChrX:54836506 [GRCh37]
ChrX:Xp11.21
pathogenic
NM_177433.3(MAGED2):c.384_385TG[1] (p.Val129fs) microsatellite Bartter syndrome, type 5, antenatal, transient [RCV000211479] ChrX:54810060..54810061 [GRCh38]
ChrX:54836493..54836494 [GRCh37]
ChrX:Xp11.21
pathogenic
NM_177433.3(MAGED2):c.1038C>G (p.Tyr346Ter) single nucleotide variant Bartter syndrome, type 5, antenatal, transient [RCV000211517] ChrX:54812204 [GRCh38]
ChrX:54838637 [GRCh37]
ChrX:Xp11.21
pathogenic
NM_177433.3(MAGED2):c.1336C>T (p.Arg446Cys) single nucleotide variant Bartter syndrome, type 5, antenatal, transient [RCV000211522] ChrX:54814725 [GRCh38]
ChrX:54841158 [GRCh37]
ChrX:Xp11.21
pathogenic
NM_177433.3(MAGED2):c.991-2A>G single nucleotide variant Bartter syndrome, type 5, antenatal, transient [RCV000211544] ChrX:54812155 [GRCh38]
ChrX:54838588 [GRCh37]
ChrX:Xp11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3 copy number gain See cases [RCV000239834] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.22-q12(chrX:53085607-67176333)x2 copy number gain See cases [RCV000239889] ChrX:53085607..67176333 [GRCh37]
ChrX:Xp11.22-q12
pathogenic
GRCh37/hg19 Xp11.3-q21.1(chrX:44734936-79676121)x3 copy number gain See cases [RCV000240019] ChrX:44734936..79676121 [GRCh37]
ChrX:Xp11.3-q21.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.22-11.21(chrX:53220822-58066465)x3 copy number gain See cases [RCV000240407] ChrX:53220822..58066465 [GRCh37]
ChrX:Xp11.22-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:60814-55476165)x1 copy number loss not provided [RCV000753275] ChrX:60814..55476165 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55529093)x1 copy number loss See cases [RCV000446584] ChrX:168546..55529093 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56684082)x1 copy number loss See cases [RCV000447092] ChrX:168546..56684082 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58140271)x1 copy number loss See cases [RCV000447773] ChrX:168546..58140271 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1 copy number loss See cases [RCV000512136] ChrX:168546..55240087 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1 copy number loss See cases [RCV000510437] ChrX:168546..58527164 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1 copy number loss See cases [RCV000512022] ChrX:168546..57683964 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic
GRCh37/hg19 Xp21.1-q22.1(chrX:37521774-98488534)x1 copy number loss See cases [RCV000512026] ChrX:37521774..98488534 [GRCh37]
ChrX:Xp21.1-q22.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_177433.3(MAGED2):c.1003del (p.Gln335fs) deletion Dandy-Walker syndrome [RCV000491895] ChrX:54812169 [GRCh38]
ChrX:54838602 [GRCh37]
ChrX:Xp11.21
likely pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1 copy number loss See cases [RCV000511615] ChrX:168546..57504183 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1 copy number loss See cases [RCV000510822] ChrX:168546..54996659 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686) copy number loss See cases [RCV000512142] ChrX:168546..74549686 [GRCh37]
ChrX:Xp22.33-q13.3
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1 copy number loss See cases [RCV000512339] ChrX:168564..57413442 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2 copy number gain not provided [RCV000684261] ChrX:7841947..90815333 [GRCh37]
ChrX:Xp22.31-q21.31
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.23-q13.2(chrX:48115450-73424191)x1 copy number loss not provided [RCV000753535] ChrX:48115450..73424191 [GRCh37]
ChrX:Xp11.23-q13.2
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
NM_177433.3(MAGED2):c.1431G>A (p.Glu477=) single nucleotide variant not provided [RCV000915183] ChrX:54815292 [GRCh38]
ChrX:54841725 [GRCh37]
ChrX:Xp11.21
benign
NM_177433.3(MAGED2):c.816A>G (p.Pro272=) single nucleotide variant not provided [RCV000968440] ChrX:54811099 [GRCh38]
ChrX:54837532 [GRCh37]
ChrX:Xp11.21
benign
NM_177433.3(MAGED2):c.1212A>G (p.Ile404Met) single nucleotide variant not provided [RCV000942733] ChrX:54813491 [GRCh38]
ChrX:54839924 [GRCh37]
ChrX:Xp11.21
likely benign
NM_177433.3(MAGED2):c.207C>T (p.Val69=) single nucleotide variant not provided [RCV000906504] ChrX:54809883 [GRCh38]
ChrX:54836316 [GRCh37]
ChrX:Xp11.21
benign
NM_177433.3(MAGED2):c.1239G>A (p.Lys413=) single nucleotide variant not provided [RCV000924608] ChrX:54813518 [GRCh38]
ChrX:54839951 [GRCh37]
ChrX:Xp11.21
likely benign
GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1 copy number loss not provided [RCV001007224] ChrX:539722..55509385 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_177433.3(MAGED2):c.561G>C (p.Glu187Asp) single nucleotide variant not provided [RCV000961818] ChrX:54810844 [GRCh38]
ChrX:54837277 [GRCh37]
ChrX:Xp11.21
benign
NM_177433.3(MAGED2):c.1137C>T (p.Ile379=) single nucleotide variant not provided [RCV000917581] ChrX:54812996 [GRCh38]
ChrX:54839429 [GRCh37]
ChrX:Xp11.21
benign
NM_177433.3(MAGED2):c.225T>C (p.Ala75=) single nucleotide variant not provided [RCV000895217] ChrX:54809901 [GRCh38]
ChrX:54836334 [GRCh37]
ChrX:Xp11.21
benign
NM_177433.3(MAGED2):c.954C>T (p.Pro318=) single nucleotide variant not provided [RCV000904951] ChrX:54811617 [GRCh38]
ChrX:54838050 [GRCh37]
ChrX:Xp11.21
likely benign
46,Y,inv(X)(p21.1q13.3) inversion Elevated serum creatine phosphokinase [RCV000856573] ChrX:32196272..75245806 [GRCh37]
ChrX:Xp21.1-q13.3
likely pathogenic
GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1 copy number loss not provided [RCV000845670] ChrX:40572613..92796528 [GRCh37]
ChrX:Xp11.4-q21.32
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_177433.3(MAGED2):c.1674_1679TGCCAG[2] (p.559_560AS[2]) microsatellite not provided [RCV000893348] ChrX:54815532..54815537 [GRCh38]
ChrX:54841965..54841970 [GRCh37]
ChrX:Xp11.21
benign
GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1 copy number loss not provided [RCV000846273] ChrX:168546..61877279 [GRCh37]
ChrX:Xp22.33-q11.1
pathogenic
NM_177433.3(MAGED2):c.911-9C>A single nucleotide variant not provided [RCV000904950] ChrX:54811565 [GRCh38]
ChrX:54837998 [GRCh37]
ChrX:Xp11.21
benign
NM_177433.3(MAGED2):c.887C>T (p.Thr296Met) single nucleotide variant not provided [RCV000895346] ChrX:54811290 [GRCh38]
ChrX:54837723 [GRCh37]
ChrX:Xp11.21
benign
GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1 copy number loss See cases [RCV001263061] ChrX:219609..55466476 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1 copy number loss not provided [RCV001281358] ChrX:168546..56457794 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:16353 AgrOrtholog
COSMIC MAGED2 COSMIC
Ensembl Genes ENSG00000102316 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000218439 UniProtKB/Swiss-Prot
  ENSP00000336962 UniProtKB/TrEMBL
  ENSP00000364193 UniProtKB/Swiss-Prot
  ENSP00000364198 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000364200 UniProtKB/TrEMBL
  ENSP00000364209 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000379526 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000486563 UniProtKB/TrEMBL
Ensembl Transcript ENST00000218439 UniProtKB/Swiss-Prot
  ENST00000347546 UniProtKB/TrEMBL
  ENST00000375053 UniProtKB/Swiss-Prot
  ENST00000375058 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000375060 UniProtKB/TrEMBL
  ENST00000375068 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000396224 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000627068 UniProtKB/TrEMBL
Gene3D-CATH 1.10.10.1200 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  1.10.10.1210 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000102316 GTEx
HGNC ID HGNC:16353 ENTREZGENE
Human Proteome Map MAGED2 Human Proteome Map
InterPro MAGE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MAGE_WH1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MAGE_WH2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MAGED2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MHD_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:10916 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 10916 ENTREZGENE
OMIM 300470 OMIM
  300971 OMIM
PANTHER PTHR11736 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11736:SF11 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam MAGE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30560 PharmGKB
PROSITE MAGE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART MAGE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R9Y7 ENTREZGENE, UniProtKB/TrEMBL
  MAGD2_HUMAN UniProtKB/Swiss-Prot
  Q5H907_HUMAN UniProtKB/TrEMBL
  Q5H909_HUMAN UniProtKB/TrEMBL
  Q9UNF1 ENTREZGENE
UniProt Secondary A6NM23 UniProtKB/TrEMBL
  A6NMX0 UniProtKB/Swiss-Prot
  O76058 UniProtKB/Swiss-Prot
  Q5BJF3 UniProtKB/Swiss-Prot
  Q8NAL6 UniProtKB/Swiss-Prot
  Q9H218 UniProtKB/Swiss-Prot
  Q9P0U9 UniProtKB/Swiss-Prot
  Q9UM52 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-08 MAGED2  MAGE family member D2  MAGED2  melanoma antigen family D2  Symbol and/or name change 5135510 APPROVED
2015-02-10 MAGED2  melanoma antigen family D2  MAGED2  melanoma antigen family D, 2  Symbol and/or name change 5135510 APPROVED