Seroatlas · Human Serome Atlas

MDGA2

MAM domain-containing glycosylphosphatidylinositol anchor protein 2

Also known as: MAMDC1, MDGA2_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q7Z553
Gene
MDGA2
Ensembl
ENSG00000139915
Chromosome
14
Canonical length
956 aa
Protein class
Predicted intracellular proteins, Predicted membrane proteins

OverviewNCBI Gene

Predicted to be involved in regulation of synapse organization and spinal cord motor neuron differentiation. Predicted to act upstream of or within several processes, including motor behavior; negative regulation of neuron apoptotic process; and neuron migration. Predicted to be located in extracellular region and plasma membrane. Predicted to be active in GABA-ergic synapse; glutamatergic synapse; and postsynaptic density membrane. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

956 residues, UniProt reviewed canonical sequence.

>Q7Z553|MDGA2
     1  MDLLYGLVWL LTVLLEGISG QGVYAPPTVR IVHSGLACNI EEERYSERVY TIREGETLEL
    61  TCLVTGHPRP QIRWTKTAGS ASDRFQDSSV FNETLRITNI QRHQGGRYYC KAENGLGSPA
   121  IKSIRVDVYY LDDPVVTVHQ SIGEAKEQFY YERTVFLRCV ANSNPPVRYS WRRGQEVLLQ
   181  GSDKGVEIYE PFFTQGETKI LKLKNLRPQD YANYSCIASV RNVCNIPDKM VSFRLSNKTA
   241  SPSIKLLVDD PIVVNPGEAI TLVCVTTGGE PAPSLTWVRS FGTLPEKTVL NGGTLTIPAI
   301  TSDDAGTYSC IANNNVGNPA KKSTNIIVRA LKKGRFWITP DPYHKDDNIQ IGREVKISCQ
   361  VEAVPSEELT FSWFKNGRPL RSSERMVITQ TDPDVSPGTT NLDIIDLKFT DFGTYTCVAS
   421  LKGGGISDIS IDVNISSSTV PPNLTVPQEK SPLVTREGDT IELQCQVTGK PKPIILWSRA
   481  DKEVAMPDGS MQMESYDGTL RIVNVSREMS GMYRCQTSQY NGFNVKPREA LVQLIVQYPP
   541  AVEPAFLEIR QGQDRSVTMS CRVLRAYPIR VLTYEWRLGN KLLRTGQFDS QEYTEYAVKS
   601  LSNENYGVYN CSIINEAGAG RCSFLVTGKA YAPEFYYDTY NPVWQNRHRV YSYSLQWTQM
   661  NPDAVDRIVA YRLGIRQAGQ QRWWEQEIKI NGNIQKGELI TYNLTELIKP EAYEVRLTPL
   721  TKFGEGDSTI RVIKYSAPVN PHLREFHCGF EDGNICLFTQ DDTDNFDWTK QSTATRNTKY
   781  TPNTGPNADR SGSKEGFYMY IETSRPRLEG EKARLLSPVF SIAPKNPYGP TNTAYCFSFF
   841  YHMYGQHIGV LNVYLRLKGQ TTIENPLWSS SGNKGQRWNE AHVNIYPITS FQLIFEGIRG
   901  PGIEGDIAID DVSIAEGECA KQDLATKNSV DGAVGILVHI WLFPIIVLIS ILSPRR

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MDGA2 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
Cell surface
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.31
Highest tissue expression
4.1 nTPM

Expression across tissuesHPA

Tissue

  • retina: 4.1 nTPM
  • testis: 3.5 nTPM
  • cerebral cortex: 3.4 nTPM
  • spinal cord: 1.6 nTPM
  • hypothalamus: 1.2 nTPM
  • amygdala: 1 nTPM

Single-cell type

  • oligodendrocyte progenitor cells: 2,819 nCPM
  • retinal bipolar cells: 2,681 nCPM
  • other brain neurons: 1,785 nCPM
  • brain inhibitory neurons: 1,627 nCPM
  • retinal amacrine cells: 1,151 nCPM
  • retinal ganglion cells: 1,105 nCPM

Immune cell

  • basophil: 0 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM
  • intermediate monocyte: 0 nTPM
  • MAIT T-cell: 0 nTPM

Brain region

  • pons: 33 nTPM
  • hypothalamus: 30 nTPM
  • cerebral cortex: 29 nTPM
  • basal ganglia: 27 nTPM
  • spinal cord: 27 nTPM
  • white matter: 26 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MDGA2.

Disease | GeneticClinVar

7 pathogenic / likely-pathogenic of 60 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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)
0.24
gnomAD pLI
1
gnomAD missense Z
1.68
DepMap mean gene effect
-0.04
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% 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 MDGA2 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 MDGA2 as an antibody target. Whether an autoantibody or antibody against MDGA2 could matter depends on whether native MDGA2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

MDGA2 is annotated at the cell surface, where native MDGA2 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label MDGA2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/MDGA2. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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