Seroatlas · Human Serome Atlas

MAGI2

Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2

Also known as: ACVRIP1, AIP1, ARIP1, KIAA0705, MAGI-2, MAGI2_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q86UL8
Gene: MAGI2
Ensembl: ENSG00000187391
Chromosome: 7
Canonical length: 1455 aa
Protein class: Disease related genes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Transporters

OverviewNCBI Gene

The protein encoded by this gene interacts with atrophin-1. Atrophin-1 contains a polyglutamine repeat, expansion of which is responsible for dentatorubral and pallidoluysian atrophy. This encoded protein is characterized by two WW domains, a guanylate kinase-like domain, and multiple PDZ domains. It has structural similarity to the membrane-associated guanylate kinase homologue (MAGUK) family. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

1455 residues, UniProt reviewed canonical sequence.

>Q86UL8|MAGI2
     1  MSKSLKKKSH WTSKVHESVI GRNPEGQLGF ELKGGAENGQ FPYLGEVKPG KVAYESGSKL
    61  VSEELLLEVN ETPVAGLTIR DVLAVIKHCK DPLRLKCVKQ GGIVDKDLRH YLNLRFQKGS
   121  VDHELQQIIR DNLYLRTVPC TTRPHKEGEV PGVDYIFITV EDFMELEKSG ALLESGTYED
   181  NYYGTPKPPA EPAPLLLNVT DQILPGATPS AEGKRKRNKS VSNMEKASIE PPEEEEEERP
   241  VVNGNGVVVT PESSEHEDKS AGASGEMPSQ PYPAPVYSQP EELKEQMDDT KPTKPEDNEE
   301  PDPLPDNWEM AYTEKGEVYF IDHNTKTTSW LDPRLAKKAK PPEECKENEL PYGWEKIDDP
   361  IYGTYYVDHI NRRTQFENPV LEAKRKLQQH NMPHTELGTK PLQAPGFREK PLFTRDASQL
   421  KGTFLSTTLK KSNMGFGFTI IGGDEPDEFL QVKSVIPDGP AAQDGKMETG DVIVYINEVC
   481  VLGHTHADVV KLFQSVPIGQ SVNLVLCRGY PLPFDPEDPA NSMVPPLAIM ERPPPVMVNG
   541  RHNYETYLEY ISRTSQSVPD ITDRPPHSLH SMPTDGQLDG TYPPPVHDDN VSMASSGATQ
   601  AELMTLTIVK GAQGFGFTIA DSPTGQRVKQ ILDIQGCPGL CEGDLIVEIN QQNVQNLSHT
   661  EVVDILKDCP IGSETSLIIH RGGFFSPWKT PKPIMDRWEN QGSPQTSLSA PAIPQNLPFP
   721  PALHRSSFPD STEAFDPRKP DPYELYEKSR AIYESRQQVP PRTSFRMDSS GPDYKELDVH
   781  LRRMESGFGF RILGGDEPGQ PILIGAVIAM GSADRDGRLH PGDELVYVDG IPVAGKTHRY
   841  VIDLMHHAAR NGQVNLTVRR KVLCGGEPCP ENGRSPGSVS THHSSPRSDY ATYTNSNHAA
   901  PSSNASPPEG FASHSLQTSD VVIHRKENEG FGFVIISSLN RPESGSTITV PHKIGRIIDG
   961  SPADRCAKLK VGDRILAVNG QSIINMPHAD IVKLIKDAGL SVTLRIIPQE ELNSPTSAPS
  1021  SEKQSPMAQQ SPLAQQSPLA QPSPATPNSP IAQPAPPQPL QLQGHENSYR SEVKARQDVK
  1081  PDIRQPPFTD YRQPPLDYRQ PPGGDYQQPP PLDYRQPPLL DYRQHSPDTR QYPLSDYRQP
  1141  QDFDYFTVDM EKGAKGFGFS IRGGREYKMD LYVLRLAEDG PAIRNGRMRV GDQIIEINGE
  1201  STRDMTHARA IELIKSGGRR VRLLLKRGTG QVPEYDEPAP WSSPAAAAPG LPEVGVSLDD
  1261  GLAPFSPSHP APPSDPSHQI SPGPTWDIKR EHDVRKPKEL SACGQKKQRL GEQRERSASP
  1321  QRAARPRLEE APGGQGRPEA GRPASEARAP GLAAADAADA ARAGGKEAPR AAAGSELCRR
  1381  EGPGAAPAFA GPGGGGSGAL EAEGRAGARA GPRPGPRPPG GAPARKAAVA PGPWKVPGSD
  1441  KLPSVLKPGA SAASR

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MAGI2 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): 0.49
Highest tissue expression: 26 nTPM

Expression across tissuesHPA

Tissue

cerebral cortex: 26 nTPM
basal ganglia: 22 nTPM
amygdala: 18 nTPM
blood vessel: 18 nTPM
hippocampal formation: 17 nTPM
spinal cord: 16 nTPM

Single-cell type

podocytes: 40,894 nCPM
bergmann glia: 4,939 nCPM
oligodendrocytes: 4,256 nCPM
adrenal medulla cells: 3,574 nCPM
choroid plexus epithelial cells: 2,685 nCPM
retinal horizontal cells: 2,683 nCPM

Immune cell

neutrophil: 0.8 nTPM
basophil: 0.5 nTPM
naive B-cell: 0.4 nTPM
plasmacytoid DC: 0.3 nTPM
gdT-cell: 0.2 nTPM
memory B-cell: 0.2 nTPM

Brain region

cerebral cortex: 216 nTPM
basal ganglia: 195 nTPM
white matter: 193 nTPM
amygdala: 183 nTPM
thalamus: 181 nTPM
hippocampal formation: 167 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MAGI2.

Disease | AllUniProt

Conditions MAGI2 is implicated in, by any mechanism.

Nephrotic syndrome 15 (NPHS15) MIM:617609

Disease | GeneticClinVar

10 pathogenic / likely-pathogenic of 682 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Nephrotic syndrome 15

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): 0.26
gnomAD pLI: 1
gnomAD missense Z: 1.81
DepMap mean gene effect: -0.03
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of MAGI2 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 MAGI2 as an antibody target. Whether an autoantibody or antibody against MAGI2 could matter depends on whether native MAGI2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

MAGI2 is annotated at the cell surface, where native MAGI2 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 MAGI2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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