Seroatlas · Human Serome Atlas

B3GAT2

Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 2

Also known as: B3GA2_HUMAN, GlcAT-S

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

Protein identityUniProt · HPA

UniProt accession: Q9NPZ5
Gene: B3GAT2
Ensembl: ENSG00000112309
Chromosome: 6
Canonical length: 323 aa
Protein class: Enzymes, Metabolic proteins, Predicted intracellular proteins
Quaternary structure: Homodimer

OverviewNCBI Gene

The product of this gene is a transmembrane protein belonging to the glucuronyltransferase family, and catalyzes the transfer of a beta-1,3 linked glucuronic acid to a terminal galactose in different glycoproteins or glycolipids containing a Gal-beta-1-4GlcNAc or Gal-beta-1-3GlcNAc residue. The encoded protein is involved in the synthesis of the human natural killer-1 (HNK-1) carbohydrate epitope, a sulfated trisaccharide implicated in cellular migration and adhesion in the nervous system. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

323 residues, UniProt reviewed canonical sequence.

>Q9NPZ5|B3GAT2
     1  MKSALFTRFF ILLPWILIVI IMLDVDTRRP VPPLTPRPYF SPYAVGRGGA RLPLRRGGPA
    61  HGTQKRNQSR PQPQPEPQLP TIYAITPTYS RPVQKAELTR LANTFRQVAQ LHWILVEDAA
   121  ARSELVSRFL ARAGLPSTHL HVPTPRRYKR PGLPRATEQR NAGLAWLRQR HQHQRAQPGV
   181  LFFADDDNTY SLELFQEMRT TRKVSVWPVG LVGGRRYERP LVENGKVVGW YTGWRADRPF
   241  AIDMAGFAVS LQVILSNPKA VFKRRGSQPG MQESDFLKQI TTVEELEPKA NNCTKVLVWH
   301  TRTEKVNLAN EPKYHLDTVK IEV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against B3GAT2 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): 0.38
Highest tissue expression: 17 nTPM

Expression across tissuesHPA

Tissue

retina: 17 nTPM
hippocampal formation: 15 nTPM
hypothalamus: 13 nTPM
cerebral cortex: 11 nTPM
spinal cord: 9.9 nTPM
midbrain: 9.8 nTPM

Single-cell type

retinal horizontal cells: 373 nCPM
oligodendrocyte progenitor cells: 100 nCPM
oocytes: 74 nCPM
astrocytes: 70 nCPM
ependymal cells: 63 nCPM
other brain neurons: 53 nCPM

Immune cell

memory CD8 T-cell: 0.3 nTPM
neutrophil: 0.3 nTPM
T-reg: 0.3 nTPM
basophil: 0.2 nTPM
eosinophil: 0.2 nTPM
memory CD4 T-cell: 0.2 nTPM

Brain region

white matter: 51 nTPM
hippocampal formation: 45 nTPM
spinal cord: 41 nTPM
pons: 40 nTPM
cerebral cortex: 34 nTPM
midbrain: 31 nTPM

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): 1.35
gnomAD pLI: 0
gnomAD missense Z: 0.38
DepMap mean gene effect: -0.08
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

Molecular functions

Cellular components

Golgi membrane

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads B3GAT2 as an antibody target. Whether an autoantibody or antibody against B3GAT2 could matter depends on whether native B3GAT2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

B3GAT2 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 B3GAT2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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