UniProtKB - Q9UNF1 (MAGD2_HUMAN)
Protein
Melanoma-associated antigen D2
Gene
MAGED2
Organism
Homo sapiens (Human)
Status
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
Keywordsi
Molecular function | Tumor antigen |
Enzyme and pathway databases
PathwayCommonsi | Q9UNF1 |
Reactomei | R-HSA-114608, Platelet degranulation |
Names & Taxonomyi
Protein namesi | Recommended name: Melanoma-associated antigen D2Alternative 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 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:16353, MAGED2 |
MIMi | 300470, gene |
neXtProti | NX_Q9UNF1 |
VEuPathDBi | HostDB:ENSG00000102316.16 |
Subcellular locationi
Cytosol
- cytosol Source: HPA
Extracellular region or secreted
- extracellular region Source: Reactome
Nucleus
- nucleolus Source: HPA
- nucleoplasm Source: HPA
Other locations
- membrane Source: UniProtKB
- platelet alpha granule lumen Source: Reactome
Pathology & Biotechi
Involvement in diseasei
Bartter syndrome 5, antenatal, transient (BARTS5)1 Publication
The disease is caused by variants 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_076836 | 446 | R → C in BARTS5; loss of interaction with GNAS. 1 PublicationCorresponds to variant dbSNP:rs878854407EnsemblClinVar. | 1 | |
Natural variantiVAR_076837 | 488 – 491 | Missing in BARTS5. 1 Publication | 4 |
Keywords - Diseasei
Bartter syndrome, Disease variantOrganism-specific databases
DisGeNETi | 10916 |
MalaCardsi | MAGED2 |
MIMi | 300971, phenotype |
OpenTargetsi | ENSG00000102316 |
Orphaneti | 93604, Antenatal Bartter syndrome |
PharmGKBi | PA30560 |
Miscellaneous databases
Pharosi | Q9UNF1, Tbio |
Genetic variation databases
BioMutai | MAGED2 |
DMDMi | 17380153 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Initiator methioninei | RemovedCombined sources1 Publication | |||
ChainiPRO_0000156727 | 2 – 606 | Melanoma-associated antigen D2Add BLAST | 605 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 2 | N-acetylserineCombined sources1 Publication | 1 | |
Modified residuei | 5 | PhosphoserineCombined sources | 1 | |
Modified residuei | 72 | PhosphothreonineCombined sources | 1 | |
Modified residuei | 157 | PhosphoserineCombined sources | 1 | |
Modified residuei | 190 | PhosphoserineCombined sources | 1 | |
Modified residuei | 191 | PhosphoserineCombined sources | 1 | |
Modified residuei | 194 | PhosphoserineCombined sources | 1 | |
Modified residuei | 197 | PhosphoserineCombined sources | 1 | |
Modified residuei | 244 | PhosphoserineCombined sources | 1 | |
Modified residuei | 247 | PhosphoserineCombined sources | 1 | |
Modified residuei | 264 | PhosphoserineCombined sources | 1 | |
Modified residuei | 265 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
Acetylation, PhosphoproteinProteomic databases
EPDi | Q9UNF1 |
jPOSTi | Q9UNF1 |
MassIVEi | Q9UNF1 |
PaxDbi | Q9UNF1 |
PeptideAtlasi | Q9UNF1 |
PRIDEi | Q9UNF1 |
ProteomicsDBi | 85286 [Q9UNF1-1] 85287 [Q9UNF1-2] |
PTM databases
iPTMneti | Q9UNF1 |
MetOSitei | Q9UNF1 |
PhosphoSitePlusi | Q9UNF1 |
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
Bgeei | ENSG00000102316, Expressed in right ovary and 235 other tissues |
ExpressionAtlasi | Q9UNF1, baseline and differential |
Genevisiblei | Q9UNF1, HS |
Organism-specific databases
HPAi | ENSG00000102316, Low tissue specificity |
Interactioni
Subunit structurei
Interacts with GNAS. May interact with DNAJB1.
1 PublicationBinary interactionsi
Q9UNF1
With | #Exp. | IntAct |
---|---|---|
JAK3 [P52333] | 3 | EBI-725832,EBI-518246 |
Protein-protein interaction databases
BioGRIDi | 116121, 143 interactors |
DIPi | DIP-50722N |
IntActi | Q9UNF1, 52 interactors |
MINTi | Q9UNF1 |
STRINGi | 9606.ENSP00000364209 |
Miscellaneous databases
RNActi | Q9UNF1, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 279 – 478 | MAGEPROSITE-ProRule annotationAdd BLAST | 200 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 215 – 258 | Arg-richAdd BLAST | 44 |
Phylogenomic databases
eggNOGi | KOG4562, Eukaryota |
GeneTreei | ENSGT00940000161795 |
InParanoidi | Q9UNF1 |
OMAi | IDKSDHL |
PhylomeDBi | Q9UNF1 |
TreeFami | TF352132 |
Family and domain databases
Gene3Di | 1.10.10.1200, 1 hit 1.10.10.1210, 1 hit |
InterProi | View protein in InterPro IPR037445, MAGE IPR041898, MAGE_WH1 IPR041899, MAGE_WH2 IPR028810, MAGED2 IPR002190, MHD_dom |
PANTHERi | PTHR11736, PTHR11736, 1 hit PTHR11736:SF11, PTHR11736:SF11, 1 hit |
Pfami | View protein in Pfam PF01454, MAGE, 1 hit |
SMARTi | View protein in SMART SM01373, MAGE, 1 hit |
PROSITEi | View protein in PROSITE PS50838, MAGE, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis 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 sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketQ5H909 | Q5H909_HUMAN | Melanoma-associated antigen D2 | MAGED2 | 588 | Annotation score: | ||
Q5H907 | Q5H907_HUMAN | Melanoma antigen family D, 2, isofo... | MAGED2 hCG_18665 | 521 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 73 | P → S in AAD00728 (Ref. 3) Curated | 1 | |
Sequence conflicti | 377 | S → C in BAC03896 (PubMed:14702039).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_053508 | 187 | E → D. Corresponds to variant dbSNP:rs12014977EnsemblClinVar. | 1 | |
Natural variantiVAR_011639 | 266 | Q → R1 PublicationCorresponds to variant dbSNP:rs1021000890Ensembl. | 1 | |
Natural variantiVAR_076836 | 446 | R → C in BARTS5; loss of interaction with GNAS. 1 PublicationCorresponds to variant dbSNP:rs878854407EnsemblClinVar. | 1 | |
Natural variantiVAR_036584 | 458 | K → Q in a breast cancer sample; somatic mutation. 1 Publication | 1 | |
Natural variantiVAR_076837 | 488 – 491 | Missing in BARTS5. 1 Publication | 4 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_008030 | 45 – 62 | Missing in isoform 2. 1 PublicationAdd BLAST | 18 |
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 |
CCDSi | CCDS14362.1 [Q9UNF1-1] |
RefSeqi | NP_055414.2, NM_014599.5 [Q9UNF1-1] NP_803182.1, NM_177433.2 [Q9UNF1-1] NP_957516.1, NM_201222.2 [Q9UNF1-1] |
Genome annotation databases
Ensembli | ENST00000218439; ENSP00000218439; ENSG00000102316 [Q9UNF1-1] ENST00000375053; ENSP00000364193; ENSG00000102316 [Q9UNF1-1] ENST00000375058; ENSP00000364198; ENSG00000102316 [Q9UNF1-1] ENST00000375068; ENSP00000364209; ENSG00000102316 [Q9UNF1-1] ENST00000396224; ENSP00000379526; ENSG00000102316 [Q9UNF1-1] |
GeneIDi | 10916 |
KEGGi | hsa:10916 |
UCSCi | uc004dtk.3, human [Q9UNF1-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar 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 |
CCDSi | CCDS14362.1 [Q9UNF1-1] |
RefSeqi | NP_055414.2, NM_014599.5 [Q9UNF1-1] NP_803182.1, NM_177433.2 [Q9UNF1-1] NP_957516.1, NM_201222.2 [Q9UNF1-1] |
3D structure databases
SMRi | Q9UNF1 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 116121, 143 interactors |
DIPi | DIP-50722N |
IntActi | Q9UNF1, 52 interactors |
MINTi | Q9UNF1 |
STRINGi | 9606.ENSP00000364209 |
PTM databases
iPTMneti | Q9UNF1 |
MetOSitei | Q9UNF1 |
PhosphoSitePlusi | Q9UNF1 |
Genetic variation databases
BioMutai | MAGED2 |
DMDMi | 17380153 |
Proteomic databases
EPDi | Q9UNF1 |
jPOSTi | Q9UNF1 |
MassIVEi | Q9UNF1 |
PaxDbi | Q9UNF1 |
PeptideAtlasi | Q9UNF1 |
PRIDEi | Q9UNF1 |
ProteomicsDBi | 85286 [Q9UNF1-1] 85287 [Q9UNF1-2] |
Protocols and materials databases
Antibodypediai | 26825, 209 antibodies |
DNASUi | 10916 |
Genome annotation databases
Ensembli | ENST00000218439; ENSP00000218439; ENSG00000102316 [Q9UNF1-1] ENST00000375053; ENSP00000364193; ENSG00000102316 [Q9UNF1-1] ENST00000375058; ENSP00000364198; ENSG00000102316 [Q9UNF1-1] ENST00000375068; ENSP00000364209; ENSG00000102316 [Q9UNF1-1] ENST00000396224; ENSP00000379526; ENSG00000102316 [Q9UNF1-1] |
GeneIDi | 10916 |
KEGGi | hsa:10916 |
UCSCi | uc004dtk.3, human [Q9UNF1-1] |
Organism-specific databases
CTDi | 10916 |
DisGeNETi | 10916 |
GeneCardsi | MAGED2 |
HGNCi | HGNC:16353, MAGED2 |
HPAi | ENSG00000102316, Low tissue specificity |
MalaCardsi | MAGED2 |
MIMi | 300470, gene 300971, phenotype |
neXtProti | NX_Q9UNF1 |
OpenTargetsi | ENSG00000102316 |
Orphaneti | 93604, Antenatal Bartter syndrome |
PharmGKBi | PA30560 |
VEuPathDBi | HostDB:ENSG00000102316.16 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG4562, Eukaryota |
GeneTreei | ENSGT00940000161795 |
InParanoidi | Q9UNF1 |
OMAi | IDKSDHL |
PhylomeDBi | Q9UNF1 |
TreeFami | TF352132 |
Enzyme and pathway databases
PathwayCommonsi | Q9UNF1 |
Reactomei | R-HSA-114608, Platelet degranulation |
Miscellaneous databases
BioGRID-ORCSi | 10916, 2 hits in 624 CRISPR screens |
ChiTaRSi | MAGED2, human |
GeneWikii | MAGED2 |
GenomeRNAii | 10916 |
Pharosi | Q9UNF1, Tbio |
PROi | PR:Q9UNF1 |
RNActi | Q9UNF1, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000102316, Expressed in right ovary and 235 other tissues |
ExpressionAtlasi | Q9UNF1, baseline and differential |
Genevisiblei | Q9UNF1, HS |
Family and domain databases
Gene3Di | 1.10.10.1200, 1 hit 1.10.10.1210, 1 hit |
InterProi | View protein in InterPro IPR037445, MAGE IPR041898, MAGE_WH1 IPR041899, MAGE_WH2 IPR028810, MAGED2 IPR002190, MHD_dom |
PANTHERi | PTHR11736, PTHR11736, 1 hit PTHR11736:SF11, PTHR11736:SF11, 1 hit |
Pfami | View protein in Pfam PF01454, MAGE, 1 hit |
SMARTi | View protein in SMART SM01373, MAGE, 1 hit |
PROSITEi | View protein in PROSITE PS50838, MAGE, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | MAGD2_HUMAN | |
Accessioni | Q9UNF1Primary (citable) accession number: Q9UNF1 Secondary accession number(s): A6NMX0 Q9UM52 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | September 26, 2001 |
Last sequence update: | September 26, 2001 | |
Last modified: | April 7, 2021 | |
This is version 178 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Direct protein sequencing, Reference proteomeDocuments
- Human chromosome X
Human chromosome X: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot