Seroatlas · Human Serome Atlas

MAGED2

Melanoma-associated antigen D2

Also known as: 11B6, BCG1, HCA10, JCL-1, MAGD2_HUMAN, MAGE-D2, MAGED, MGC8386

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q9UNF1
Gene: MAGED2
Ensembl: ENSG00000102316
Chromosome: X
Canonical length: 606 aa
Protein class: Cancer-related genes, Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Nucleoli,Cytosol

OverviewNCBI Gene

This gene is a member of the MAGED gene family. The MAGED genes are clustered on chromosome Xp11. This gene is located in Xp11.2, a hot spot for X-linked intellectual disability (XLID). Mutations in this gene cause a form of transient antenatal Bartter's syndrome. This gene may also be involved in several types of cancer, including breast cancer and melanoma. The protein encoded by this gene is progressively recruited from the cytoplasm to the nucleoplasm during the interphase and after nucleolar stress and is thus thought to play a role in cell cycle regulation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2017]

Canonical amino-acid sequenceUniProt

606 residues, UniProt reviewed canonical sequence.

>Q9UNF1|MAGED2
     1  MSDTSESGAG LTRFQAEASE KDSSSMMQTL LTVTQNVEVP ETPKASKALE VSEDVKVSKA
    61  SGVSKATEVS KTPEAREAPA TQASSTTQLT DTQVLAAENK SLAADTKKQN ADPQAVTMPA
   121  TETKKVSHVA DTKVNTKAQE TEAAPSQAPA DEPEPESAAA QSQENQDTRP KVKAKKARKV
   181  KHLDGEEDGS SDQSQASGTT GGRRVSKALM ASMARRASRG PIAFWARRAS RTRLAAWARR
   241  ALLSLRSPKA RRGKARRRAA KLQSSQEPEA PPPRDVALLQ GRANDLVKYL LAKDQTKIPI
   301  KRSDMLKDII KEYTDVYPEI IERAGYSLEK VFGIQLKEID KNDHLYILLS TLEPTDAGIL
   361  GTTKDSPKLG LLMVLLSIIF MNGNRSSEAV IWEVLRKLGL RPGIHHSLFG DVKKLITDEF
   421  VKQKYLDYAR VPNSNPPEYE FFWGLRSYYE TSKMKVLKFA CKVQKKDPKE WAAQYREAME
   481  ADLKAAAEAA AEAKARAEIR ARMGIGLGSE NAAGPCNWDE ADIGPWAKAR IQAGAEAKAK
   541  AQESGSASTG ASTSTNNSAS ASASTSGGFS AGASLTATLT FGLFAGLGGA GASTSGSSGA
   601  CGFSYK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MAGED2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Secreted
Secreted: Yes
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.53
Highest tissue expression: 273 nTPM

Expression across tissuesHPA

Tissue

ovary: 273 nTPM
blood vessel: 231 nTPM
prostate: 196 nTPM
pituitary gland: 193 nTPM
choroid plexus: 167 nTPM
placenta: 167 nTPM

Single-cell type

granulosa cells: 753 nCPM
ovarian stromal cells: 338 nCPM
platelets: 332 nCPM
decidual stromal cells: 315 nCPM
peritubular myoid cells: 279 nCPM
cytotrophoblasts: 255 nCPM

Immune cell

basophil: 179 nTPM
non-classical monocyte: 141 nTPM
eosinophil: 132 nTPM
total PBMC: 127 nTPM
gdT-cell: 119 nTPM
naive CD8 T-cell: 112 nTPM

Brain region

pons: 149 nTPM
hypothalamus: 137 nTPM
midbrain: 130 nTPM
medulla oblongata: 121 nTPM
choroid plexus: 115 nTPM
white matter: 109 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MAGED2.

Disease | AllUniProt

Conditions MAGED2 is implicated in, by any mechanism.

Bartter syndrome 5, antenatal, transient (BARTS5) MIM:300971

Disease | GeneticClinVar

17 pathogenic / likely-pathogenic of 256 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Bartter disease type 5
6 conditions
Renal tubulopathies

Disease | ImmuneIEDB

Conditions an epitope on MAGED2 was assayed in.

melanoma T cell

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.23
gnomAD pLI: 1
gnomAD missense Z: 2.34
DepMap mean gene effect: 0.22
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of MAGED2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads MAGED2 as an antibody target. Whether an autoantibody or antibody against MAGED2 could matter depends on whether native MAGED2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

MAGED2 is annotated as secreted, so native MAGED2 circulates and is directly accessible to antibodies. Secreted and cell-surface proteins are the autoantibody targets most likely to act like drugs, blocking or depleting the native protein.

Annotation status

The present source text does not explicitly label MAGED2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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