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UniProtKB - Q9UNF1 (MAGD2_HUMAN)

Protein

Melanoma-associated antigen D2

Gene

MAGED2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Regulates the expression, localization to the plasma membrane and function of the sodium chloride cotransporters SLC12A1 and SLC12A3, two key components of salt reabsorption in the distal renal tubule.1 Publication

GO - Biological processi

  • female pregnancy Source: UniProtKB
  • platelet degranulation Source: Reactome
  • renal sodium ion absorption Source: UniProtKB
View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionTumor antigen

Enzyme and pathway databases

ReactomeiR-HSA-114608 Platelet degranulation

Names & Taxonomyi

Protein namesi
Recommended name:
Melanoma-associated antigen D2
Alternative name(s):
11B6
Breast cancer-associated gene 1 protein
Short name:
BCG-1
Hepatocellular carcinoma-associated protein JCL-1
MAGE-D2 antigen
Gene namesi
Name:MAGED2
Synonyms:BCG1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

EuPathDBiHostDB:ENSG00000102316.16
HGNCiHGNC:16353 MAGED2
MIMi300470 gene
neXtProtiNX_Q9UNF1

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Pathology & Biotechi

Involvement in diseasei

Bartter syndrome 5, antenatal, transient (BARTS5)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn X-linked recessive form of Bartter syndrome, a disorder characterized by impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and varying degrees of hypercalciuria. BARTS5 is an antenatal form beginning in utero with marked fetal polyuria that leads to polyhydramnios and premature delivery. It is characterized by severe but transient symptoms that can resolve with age.
See also OMIM:300971
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_076836446R → C in BARTS5; loss of interaction with GNAS. 1 PublicationCorresponds to variant dbSNP:rs878854407EnsemblClinVar.1
Natural variantiVAR_076837488 – 491Missing in BARTS5. 1 Publication4

Keywords - Diseasei

Bartter syndrome, Disease mutation

Organism-specific databases

DisGeNETi10916
MalaCardsiMAGED2
MIMi300971 phenotype
OpenTargetsiENSG00000102316
Orphaneti93604 Antenatal Bartter syndrome
PharmGKBiPA30560

Polymorphism and mutation databases

BioMutaiMAGED2
DMDMi17380153

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources1 Publication
ChainiPRO_00001567272 – 606Melanoma-associated antigen D2Add BLAST605

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylserineCombined sources1 Publication1
Modified residuei5PhosphoserineCombined sources1
Modified residuei72PhosphothreonineCombined sources1
Modified residuei157PhosphoserineCombined sources1
Modified residuei190PhosphoserineCombined sources1
Modified residuei191PhosphoserineCombined sources1
Modified residuei194PhosphoserineCombined sources1
Modified residuei197PhosphoserineCombined sources1
Modified residuei244PhosphoserineCombined sources1
Modified residuei247PhosphoserineCombined sources1
Modified residuei264PhosphoserineCombined sources1
Modified residuei265PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ9UNF1
PaxDbiQ9UNF1
PeptideAtlasiQ9UNF1
PRIDEiQ9UNF1
ProteomicsDBi85286
85287 [Q9UNF1-2]

PTM databases

iPTMnetiQ9UNF1
PhosphoSitePlusiQ9UNF1

Expressioni

Tissue specificityi

Widely expressed. In the developing and adult kidney, expressed in the thick ascending limb of the loop of Henle and the distal convoluted tubules outside the loop.2 Publications

Gene expression databases

BgeeiENSG00000102316 Expressed in 224 organ(s), highest expression level in right ovary
CleanExiHS_MAGED2
ExpressionAtlasiQ9UNF1 baseline and differential
GenevisibleiQ9UNF1 HS

Organism-specific databases

HPAiHPA031572
HPA031573

Interactioni

Subunit structurei

Interacts with GNAS. May interact with DNAJB1.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
JAK3P523333EBI-725832,EBI-518246

Protein-protein interaction databases

BioGridi116121, 90 interactors
DIPiDIP-50722N
IntActiQ9UNF1, 39 interactors
MINTiQ9UNF1
STRINGi9606.ENSP00000218439

Structurei

3D structure databases

ProteinModelPortaliQ9UNF1
SMRiQ9UNF1
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini279 – 478MAGEPROSITE-ProRule annotationAdd BLAST200

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi215 – 258Arg-richAdd BLAST44

Phylogenomic databases

eggNOGiKOG4562 Eukaryota
ENOG4111S70 LUCA
GeneTreeiENSGT00760000118824
HOVERGENiHBG003714
InParanoidiQ9UNF1
OMAiMQSADPQ
OrthoDBiEOG091G09D3
PhylomeDBiQ9UNF1
TreeFamiTF352132

Family and domain databases

InterProiView protein in InterPro
IPR037445 MAGE
IPR028810 MAGED2
IPR002190 MHD_dom
PANTHERiPTHR11736 PTHR11736, 1 hit
PTHR11736:SF11 PTHR11736:SF11, 1 hit
PfamiView protein in Pfam
PF01454 MAGE, 1 hit
SMARTiView protein in SMART
SM01373 MAGE, 1 hit
PROSITEiView protein in PROSITE
PS50838 MAGE, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9UNF1-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MSDTSESGAG LTRFQAEASE KDSSSMMQTL LTVTQNVEVP ETPKASKALE 
        60         70         80         90        100
VSEDVKVSKA SGVSKATEVS KTPEAREAPA TQASSTTQLT DTQVLAAENK 
       110        120        130        140        150
SLAADTKKQN ADPQAVTMPA TETKKVSHVA DTKVNTKAQE TEAAPSQAPA 
       160        170        180        190        200
DEPEPESAAA QSQENQDTRP KVKAKKARKV KHLDGEEDGS SDQSQASGTT 
       210        220        230        240        250
GGRRVSKALM ASMARRASRG PIAFWARRAS RTRLAAWARR ALLSLRSPKA 
       260        270        280        290        300
RRGKARRRAA KLQSSQEPEA PPPRDVALLQ GRANDLVKYL LAKDQTKIPI 
       310        320        330        340        350
KRSDMLKDII KEYTDVYPEI IERAGYSLEK VFGIQLKEID KNDHLYILLS 
       360        370        380        390        400
TLEPTDAGIL GTTKDSPKLG LLMVLLSIIF MNGNRSSEAV IWEVLRKLGL 
       410        420        430        440        450
RPGIHHSLFG DVKKLITDEF VKQKYLDYAR VPNSNPPEYE FFWGLRSYYE 
       460        470        480        490        500
TSKMKVLKFA CKVQKKDPKE WAAQYREAME ADLKAAAEAA AEAKARAEIR 
       510        520        530        540        550
ARMGIGLGSE NAAGPCNWDE ADIGPWAKAR IQAGAEAKAK AQESGSASTG 
       560        570        580        590        600
ASTSTNNSAS ASASTSGGFS AGASLTATLT FGLFAGLGGA GASTSGSSGA 

CGFSYK
Length:606
Mass (Da):64,954
Last modified:September 26, 2001 - v2
Checksum:i352FD5BAF5088652
GO
Isoform 2 (identifier: Q9UNF1-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     45-62: Missing.

Note: No experimental confirmation available.
Show »
Length:588
Mass (Da):63,167
Checksum:iAF568E2B27C5765B
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q5H909Q5H909_HUMAN
Melanoma-associated antigen D2
MAGED2
588Annotation score:
Q5H907Q5H907_HUMAN
Melanoma antigen family D, 2, isofo...
MAGED2 hCG_18665
521Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti73P → S in AAD00728 (Ref. 3) Curated1
Sequence conflicti377S → C in BAC03896 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_053508187E → D. Corresponds to variant dbSNP:rs12014977Ensembl.1
Natural variantiVAR_011639266Q → R1 PublicationCorresponds to variant dbSNP:rs1021000890Ensembl.1
Natural variantiVAR_076836446R → C in BARTS5; loss of interaction with GNAS. 1 PublicationCorresponds to variant dbSNP:rs878854407EnsemblClinVar.1
Natural variantiVAR_036584458K → Q in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_076837488 – 491Missing in BARTS5. 1 Publication4

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_00803045 – 62Missing in isoform 2. 1 PublicationAdd BLAST18

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF128527 mRNA Translation: AAD33392.1
AF128528 mRNA Translation: AAD33393.1
AF126181 mRNA Translation: AAD28598.1
AJ293618 mRNA Translation: CAC19410.1
U92544 mRNA Translation: AAD00728.1
AF320070 mRNA Translation: AAG35066.2
AK092463 mRNA Translation: BAC03896.1
Z98046 Genomic DNA No translation available.
CH471154 Genomic DNA Translation: EAW93189.1
BC000304 mRNA Translation: AAH00304.1
BC091503 mRNA Translation: AAH91503.1
AF148815 mRNA Translation: AAF73137.1
AF320907 mRNA Translation: AAG38603.1
CCDSiCCDS14362.1 [Q9UNF1-1]
RefSeqiNP_055414.2, NM_014599.5 [Q9UNF1-1]
NP_803182.1, NM_177433.2 [Q9UNF1-1]
NP_957516.1, NM_201222.2 [Q9UNF1-1]
UniGeneiHs.522665

Genome annotation databases

EnsembliENST00000218439; ENSP00000218439; ENSG00000102316 [Q9UNF1-1]
ENST00000375053; ENSP00000364193; ENSG00000102316 [Q9UNF1-1]
ENST00000375058; ENSP00000364198; ENSG00000102316 [Q9UNF1-1]
ENST00000375068; ENSP00000364209; ENSG00000102316 [Q9UNF1-1]
ENST00000396224; ENSP00000379526; ENSG00000102316 [Q9UNF1-1]
GeneIDi10916
KEGGihsa:10916
UCSCiuc004dtk.3 human [Q9UNF1-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF128527 mRNA Translation: AAD33392.1
AF128528 mRNA Translation: AAD33393.1
AF126181 mRNA Translation: AAD28598.1
AJ293618 mRNA Translation: CAC19410.1
U92544 mRNA Translation: AAD00728.1
AF320070 mRNA Translation: AAG35066.2
AK092463 mRNA Translation: BAC03896.1
Z98046 Genomic DNA No translation available.
CH471154 Genomic DNA Translation: EAW93189.1
BC000304 mRNA Translation: AAH00304.1
BC091503 mRNA Translation: AAH91503.1
AF148815 mRNA Translation: AAF73137.1
AF320907 mRNA Translation: AAG38603.1
CCDSiCCDS14362.1 [Q9UNF1-1]
RefSeqiNP_055414.2, NM_014599.5 [Q9UNF1-1]
NP_803182.1, NM_177433.2 [Q9UNF1-1]
NP_957516.1, NM_201222.2 [Q9UNF1-1]
UniGeneiHs.522665

3D structure databases

ProteinModelPortaliQ9UNF1
SMRiQ9UNF1
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116121, 90 interactors
DIPiDIP-50722N
IntActiQ9UNF1, 39 interactors
MINTiQ9UNF1
STRINGi9606.ENSP00000218439

PTM databases

iPTMnetiQ9UNF1
PhosphoSitePlusiQ9UNF1

Polymorphism and mutation databases

BioMutaiMAGED2
DMDMi17380153

Proteomic databases

EPDiQ9UNF1
PaxDbiQ9UNF1
PeptideAtlasiQ9UNF1
PRIDEiQ9UNF1
ProteomicsDBi85286
85287 [Q9UNF1-2]

Protocols and materials databases

DNASUi10916
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000218439; ENSP00000218439; ENSG00000102316 [Q9UNF1-1]
ENST00000375053; ENSP00000364193; ENSG00000102316 [Q9UNF1-1]
ENST00000375058; ENSP00000364198; ENSG00000102316 [Q9UNF1-1]
ENST00000375068; ENSP00000364209; ENSG00000102316 [Q9UNF1-1]
ENST00000396224; ENSP00000379526; ENSG00000102316 [Q9UNF1-1]
GeneIDi10916
KEGGihsa:10916
UCSCiuc004dtk.3 human [Q9UNF1-1]

Organism-specific databases

CTDi10916
DisGeNETi10916
EuPathDBiHostDB:ENSG00000102316.16
GeneCardsiMAGED2
HGNCiHGNC:16353 MAGED2
HPAiHPA031572
HPA031573
MalaCardsiMAGED2
MIMi300470 gene
300971 phenotype
neXtProtiNX_Q9UNF1
OpenTargetsiENSG00000102316
Orphaneti93604 Antenatal Bartter syndrome
PharmGKBiPA30560
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4562 Eukaryota
ENOG4111S70 LUCA
GeneTreeiENSGT00760000118824
HOVERGENiHBG003714
InParanoidiQ9UNF1
OMAiMQSADPQ
OrthoDBiEOG091G09D3
PhylomeDBiQ9UNF1
TreeFamiTF352132

Enzyme and pathway databases

ReactomeiR-HSA-114608 Platelet degranulation

Miscellaneous databases

ChiTaRSiMAGED2 human
GeneWikiiMAGED2
GenomeRNAii10916
PROiPR:Q9UNF1
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000102316 Expressed in 224 organ(s), highest expression level in right ovary
CleanExiHS_MAGED2
ExpressionAtlasiQ9UNF1 baseline and differential
GenevisibleiQ9UNF1 HS

Family and domain databases

InterProiView protein in InterPro
IPR037445 MAGE
IPR028810 MAGED2
IPR002190 MHD_dom
PANTHERiPTHR11736 PTHR11736, 1 hit
PTHR11736:SF11 PTHR11736:SF11, 1 hit
PfamiView protein in Pfam
PF01454 MAGE, 1 hit
SMARTiView protein in SMART
SM01373 MAGE, 1 hit
PROSITEiView protein in PROSITE
PS50838 MAGE, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiMAGD2_HUMAN
AccessioniPrimary (citable) accession number: Q9UNF1
Secondary accession number(s): A6NMX0
, O76058, Q5BJF3, Q8NAL6, Q9H218, Q9P0U9, Q9UM52
Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 26, 2001
Last sequence update: September 26, 2001
Last modified: November 7, 2018
This is version 159 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
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