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UniProtKB - Q9UNF1 (MAGD2_HUMAN)

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Protein

Melanoma-associated antigen D2

Gene

MAGED2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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
Complete GO annotation...

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

HGNCiHGNC:16353. MAGED2.

Subcellular locationi

GO - Cellular componenti

  • cytosol Source: HPA
  • extracellular region Source: Reactome
  • membrane Source: UniProtKB
  • nucleolus Source: HPA
  • nucleus Source: HPA
  • platelet alpha granule lumen Source: Reactome
Complete GO annotation...

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:rs878854407Ensembl.1
Natural variantiVAR_076837488 – 491Missing in BARTS5. 1 Publication4

Keywords - Diseasei

Bartter syndrome, Disease mutation

Organism-specific databases

DisGeNETi10916.
MalaCardsiMAGED2.
MIMi300971. phenotype.
OpenTargetsiENSG00000102316.
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.

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.
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. 79 interactors.
DIPiDIP-50722N.
IntActiQ9UNF1. 30 interactors.
MINTiMINT-1389350.
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.
OMAiWDEADIG.
OrthoDBiEOG091G09D3.
PhylomeDBiQ9UNF1.
TreeFamiTF352132.

Family and domain databases

InterProiView protein in InterPro
IPR028810. MAGED2.
IPR002190. MHD_dom.
PANTHERiPTHR11736:SF91. PTHR11736:SF91. 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

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

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 Publication1
Natural variantiVAR_076836446R → C in BARTS5; loss of interaction with GNAS. 1 PublicationCorresponds to variant dbSNP:rs878854407Ensembl.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. Translation: CAB10841.1.
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

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.

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: July 5, 2017
This is version 146 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 chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot