Seroatlas · Human Serome Atlas

B3GALNT2

UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2

Also known as: B3GL2_HUMAN, MGC39558

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

Protein identityUniProt · HPA

UniProt accession
Q8NCR0
Gene
B3GALNT2
Ensembl
ENSG00000162885
Chromosome
1
Canonical length
500 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins
Subcellular location
Golgi apparatus
Secretome location
Intracellular and membrane

OverviewNCBI Gene

This gene encodes a member of the glycosyltransferase 31 family. The encoded protein synthesizes GalNAc:beta-1,3GlcNAc, a novel carbohydrate structure, on N- and O-glycans. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Mar 2013]

Canonical amino-acid sequenceUniProt

500 residues, UniProt reviewed canonical sequence.

>Q8NCR0|B3GALNT2
     1  MRNWLVLLCP CVLGAALHLW LRLRSPPPAC ASGAGPADQL ALFPQWKSTH YDVVVGVLSA
    61  RNNHELRNVI RSTWMRHLLQ HPTLSQRVLV KFIIGAHGCE VPVEDREDPY SCKLLNITNP
   121  VLNQEIEAFS LSEDTSSGLP EDRVVSVSFR VLYPIVITSL GVFYDANDVG FQRNITVKLY
   181  QAEQEEALFI ARFSPPSCGV QVNKLWYKPV EQFILPESFE GTIVWESQDL HGLVSRNLHK
   241  VTVNDGGGVL RVITAGEGAL PHEFLEGVEG VAGGFIYTIQ EGDALLHNLH SRPQRLIDHI
   301  RNLHEEDALL KEESSIYDDI VFVDVVDTYR NVPAKLLNFY RWTVETTSFN LLLKTDDDCY
   361  IDLEAVFNRI VQKNLDGPNF WWGNFRLNWA VDRTGKWQEL EYPSPAYPAF ACGSGYVISK
   421  DIVKWLASNS GRLKTYQGED VSMGIWMAAI GPKRYQDSLW LCEKTCETGM LSSPQYSPWE
   481  LTELWKLKER CGDPCRCQAR

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against B3GALNT2 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)
0.3
Highest tissue expression
34 nTPM

Expression across tissuesHPA

Tissue

  • pancreas: 34 nTPM
  • skeletal muscle: 27 nTPM
  • blood vessel: 21 nTPM
  • tongue: 16 nTPM
  • stomach: 14 nTPM
  • colon: 14 nTPM

Single-cell type

  • choroid plexus epithelial cells: 110 nCPM
  • astrocytes: 70 nCPM
  • distal convoluted tubule cells: 68 nCPM
  • renal connecting tubule cells: 62 nCPM
  • bergmann glia: 62 nCPM
  • brain inhibitory neurons: 61 nCPM

Immune cell

  • myeloid DC: 2.3 nTPM
  • plasmacytoid DC: 1.9 nTPM
  • intermediate monocyte: 1.6 nTPM
  • non-classical monocyte: 1.3 nTPM
  • NK-cell: 1.2 nTPM
  • basophil: 1.1 nTPM

Brain region

  • choroid plexus: 10 nTPM
  • midbrain: 3.8 nTPM
  • hypothalamus: 3.7 nTPM
  • thalamus: 3.6 nTPM
  • cerebellum: 3.4 nTPM
  • cerebral cortex: 3.3 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about B3GALNT2.

Disease | AllUniProt

Conditions B3GALNT2 is implicated in, by any mechanism.

  • Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A11 (MDDGA11) MIM:615181

Disease | GeneticClinVar

60 pathogenic / likely-pathogenic of 551 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)
0.84
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 9% 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

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads B3GALNT2 as an antibody target. Whether an autoantibody or antibody against B3GALNT2 could matter depends on whether native B3GALNT2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

B3GALNT2 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 B3GALNT2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/B3GALNT2. 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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