Seroatlas · Human Serome Atlas

B4GALNT2

Beta-1,4 N-acetylgalactosaminyltransferase 2

Also known as: B4GN2_HUMAN, Cad, GALGT2, Sda

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

Protein identityUniProt · HPA

UniProt accession: Q8NHY0
Gene: B4GALNT2
Ensembl: ENSG00000167080
Chromosome: 17
Canonical length: 566 aa
Protein class: Disease related genes, Metabolic proteins, Predicted intracellular proteins, Predicted membrane proteins
Quaternary structure: Homodimer

OverviewNCBI Gene

B4GALNT2 catalyzes the last step in the biosynthesis of the human Sd(a) antigen through the addition of an N-acetylgalactosamine residue via a beta-1,4 linkage to a subterminal galactose residue substituted with an alpha-2,3-linked sialic acid. B4GALNT2 also catalyzes the last step in the biosynthesis of the Cad antigen (Montiel et al., 2003 [PubMed 12678917]).[supplied by OMIM, Mar 2008]

Canonical amino-acid sequenceUniProt

566 residues, UniProt reviewed canonical sequence.

>Q8NHY0|B4GALNT2
     1  MGSAGFSVGK FHVEVASRGR ECVSGTPECG NRLGSAGFGA LCLELRGADP AWGPFAAHGR
    61  SRRQGSRFLW LLKILVIILV LGIVGFMFGS MFLQAVFSSP KPELPSPAPG VQKLKLLPEE
   121  RLRNLFSYDG IWLFPKNQCK CEANKEQGGY NFQDAYGQSD LPAVKARRQA EFEHFQRREG
   181  LPRPLPLLVQ PNLPFGYPVH GVEVMPLHTV PIPGLQFEGP DAPVYEVTLT ASLGTLNTLA
   241  DVPDSVVQGR GQKQLIISTS DRKLLKFILQ HVTYTSTGYQ HQKVDIVSLE SRSSVAKFPV
   301  TIRHPVIPKL YDPGPERKLR NLVTIATKTF LRPHKLMIML RSIREYYPDL TVIVADDSQK
   361  PLEIKDNHVE YYTMPFGKGW FAGRNLAISQ VTTKYVLWVD DDFLFNEETK IEVLVDVLEK
   421  TELDVVGGSV LGNVFQFKLL LEQSENGACL HKRMGFFQPL DGFPSCVVTS GVVNFFLAHT
   481  ERLQRVGFDP RLQRVAHSEF FIDGLGTLLV GSCPEVIIGH QSRSPVVDSE LAALEKTYNT
   541  YRSNTLTRVQ FKLALHYFKN HLQCAA

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against B4GALNT2 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): 0.36
Highest tissue expression: 31 nTPM

Expression across tissuesHPA

Tissue

colon: 31 nTPM
rectum: 13 nTPM
kidney: 8.5 nTPM
small intestine: 7.9 nTPM
retina: 7.7 nTPM
appendix: 7.5 nTPM

Single-cell type

salivary ionocytes: 110 nCPM
goblet cells: 73 nCPM
renal collecting duct principal cells: 51 nCPM
enterocytes: 50 nCPM
renal collecting duct intercalated cells: 44 nCPM
colonocytes: 39 nCPM

Immune cell

basophil: 0.3 nTPM
naive B-cell: 0.2 nTPM
eosinophil: 0.1 nTPM
gdT-cell: 0.1 nTPM
memory B-cell: 0.1 nTPM
memory CD4 T-cell: 0.1 nTPM

Brain region

cerebellum: 37 nTPM
choroid plexus: 29 nTPM
cerebral cortex: 27 nTPM
hippocampal formation: 27 nTPM
basal ganglia: 26 nTPM
white matter: 26 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about B4GALNT2.

Disease | AllUniProt

Conditions B4GALNT2 is implicated in, by any mechanism.

Sd(a) polyagglutination syndrome (SDPS) MIM:615018

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): 1.47
gnomAD pLI: 0
gnomAD missense Z: 0.39
DepMap mean gene effect: -0.1
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

acetylgalactosaminyltransferase activity
N-acetylneuraminylgalactosylglucosylceramide beta-1,4-N-acetylgalactosaminyltransferase activity

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads B4GALNT2 as an antibody target. Whether an autoantibody or antibody against B4GALNT2 could matter depends on whether native B4GALNT2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

B4GALNT2 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 B4GALNT2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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