Seroatlas · Human Serome Atlas

POMGNT2

Protein O-linked-mannose beta-1,4-N-acetylglucosaminyltransferase 2

Also known as: AGO61, C3orf39, FLJ14566, GTDC2, PMGT2_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q8NAT1
Gene
POMGNT2
Ensembl
ENSG00000144647
Chromosome
3
Canonical length
580 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins
Secretome location
Intracellular and membrane

OverviewNCBI Gene

This gene encodes a protein with glycosyltransferase activity although its function is not currently known. [provided by RefSeq, Sep 2012]

Canonical amino-acid sequenceUniProt

580 residues, UniProt reviewed canonical sequence.

>Q8NAT1|POMGNT2
     1  MHLSAVFNAL LVSVLAAVLW KHVRLREHAA TLEEELALSR QATEPAPALR IDYPKALQIL
    61  MEGGTHMVCT GRTHTDRICR FKWLCYSNEA EEFIFFHGNT SVMLPNLGSR RFQPALLDLS
   121  TVEDHNTQYF NFVELPAAAL RFMPKPVFVP DVALIANRFN PDNLMHVFHD DLLPLFYTLR
   181  QFPGLAHEAR LFFMEGWGEG AHFDLYKLLS PKQPLLRAQL KTLGRLLCFS HAFVGLSKIT
   241  TWYQYGFVQP QGPKANILVS GNEIRQFARF MTEKLNVSHT GVPLGEEYIL VFSRTQNRLI
   301  LNEAELLLAL AQEFQMKTVT VSLEDHTFAD VVRLVSNASM LVSMHGAQLV TTLFLPRGAT
   361  VVELFPYAVN PDHYTPYKTL AMLPGMDLQY VAWRNMMPEN TVTHPERPWD QGGITHLDRA
   421  EQARILQSRE VPRHLCCRNP EWLFRIYQDT KVDIPSLIQT IRRVVKGRPG PRKQKWTVGL
   481  YPGKVREARC QASVHGASEA RLTVSWQIPW NLKYLKVREV KYEVWLQEQG ENTYVPYILA
   541  LQNHTFTENI KPFTTYLVWV RCIFNKILLG PFADVLVCNT

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against POMGNT2 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
Other membrane
Secreted
No
Transmembrane segments
1
Mean surface accessibility (rSASA)
0.27
Highest tissue expression
38 nTPM

Expression across tissuesHPA

Tissue

  • endometrium: 38 nTPM
  • cerebellum: 33 nTPM
  • choroid plexus: 27 nTPM
  • fallopian tube: 23 nTPM
  • skeletal muscle: 23 nTPM
  • cerebral cortex: 22 nTPM

Single-cell type

  • adrenal medulla cells: 43 nCPM
  • late spermatids: 42 nCPM
  • peritubular myoid cells: 28 nCPM
  • erythrocyte progenitors: 28 nCPM
  • epididymal efferent duct ciliated cells: 27 nCPM
  • fallopian tube ciliated cells: 26 nCPM

Immune cell

  • gdT-cell: 3.1 nTPM
  • MAIT T-cell: 2.8 nTPM
  • naive CD4 T-cell: 2.4 nTPM
  • memory B-cell: 2.1 nTPM
  • memory CD8 T-cell: 2 nTPM
  • memory CD4 T-cell: 1.9 nTPM

Brain region

  • thalamus: 45 nTPM
  • pons: 43 nTPM
  • amygdala: 36 nTPM
  • hippocampal formation: 36 nTPM
  • medulla oblongata: 35 nTPM
  • cerebral cortex: 34 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about POMGNT2.

Disease | AllUniProt

Conditions POMGNT2 is implicated in, by any mechanism.

  • Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A8 (MDDGA8) MIM:614830
  • Muscular dystrophy-dystroglycanopathy limb-girdle C8 (MDDGC8) MIM:618135

Disease | GeneticClinVar

29 pathogenic / likely-pathogenic of 497 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)
1.01
gnomAD pLI
0
gnomAD missense Z
0.95
DepMap mean gene effect
-0.03
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% 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 POMGNT2 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 POMGNT2 as an antibody target. Whether an autoantibody or antibody against POMGNT2 could matter depends on whether native POMGNT2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

POMGNT2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label POMGNT2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/POMGNT2. 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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