Seroatlas · Human Serome Atlas

GCNT2

N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase

Also known as: bA360O19.2, bA421M1.1, CCAT, GCNT5, GNT2A_HUMAN, IGNT, II, NACGT1, NAGCT1, ULG3

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

Protein identityUniProt · HPA

UniProt accession
Q8N0V5
Gene
GCNT2
Ensembl
ENSG00000111846
Chromosome
6
Canonical length
402 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins
Subcellular location
Golgi apparatus

OverviewNCBI Gene

This gene encodes the enzyme responsible for formation of the blood group I antigen. The i and I antigens are distinguished by linear and branched poly-N-acetyllactosaminoglycans, respectively. The encoded protein is the I-branching enzyme, a beta-1,6-N-acetylglucosaminyltransferase responsible for the conversion of fetal i antigen to adult I antigen in erythrocytes during embryonic development. Mutations in this gene have been associated with adult i blood group phenotype. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

402 residues, UniProt reviewed canonical sequence.

>Q8N0V5|GCNT2
     1  MMGSWKHCLF SASLISALIF VFVYNTELWE NKRFLRAALS NASLLAEACH QIFEGKVFYP
    61  TENALKTTLD EATCYEYMVR SHYVTETLSE EEAGFPLAYT VTIHKDFGTF ERLFRAIYMP
   121  QNVYCVHLDQ KATDAFKGAV KQLLSCFPNA FLASKKESVV YGGISRLQAD LNCLEDLVAS
   181  EVPWKYVINT CGQDFPLKTN REIVQYLKGF KGKNITPGVL PPDHAVGRTK YVHQELLNHK
   241  NSYVIKTTKL KTPPPHDMVI YFGTAYVALT RDFANFVLQD QLALDLLSWS KDTYSPDEHF
   301  WVTLNRIPGV PGSMPNASWT GNLRAIKWSD MEDRHGGCHG HYVHGICIYG NGDLKWLVNS
   361  PSLFANKFEL NTYPLTVECL ELRHRERTLN QSETAIQPSW YF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GCNT2 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)
0.26
Highest tissue expression
14 nTPM

Expression across tissuesHPA

Tissue

  • prostate: 14 nTPM
  • heart muscle: 12 nTPM
  • stomach: 10 nTPM
  • breast: 9.2 nTPM
  • liver: 7.4 nTPM
  • kidney: 6.9 nTPM

Single-cell type

  • oocytes: 548 nCPM
  • distal convoluted tubule cells: 446 nCPM
  • choroid plexus epithelial cells: 398 nCPM
  • loop of henle epithelial cells: 266 nCPM
  • microglia: 244 nCPM
  • renal collecting duct intercalated cells: 197 nCPM

Immune cell

  • basophil: 1.9 nTPM
  • classical monocyte: 1.1 nTPM
  • myeloid DC: 0.9 nTPM
  • intermediate monocyte: 0.8 nTPM
  • memory B-cell: 0.7 nTPM
  • eosinophil: 0.5 nTPM

Brain region

  • choroid plexus: 5.8 nTPM
  • cerebellum: 1.8 nTPM
  • pons: 1.8 nTPM
  • medulla oblongata: 1.7 nTPM
  • hypothalamus: 1.4 nTPM
  • white matter: 1.3 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about GCNT2.

Disease | AllUniProt

Conditions GCNT2 is implicated in, by any mechanism.

  • Cataract 13, with adult i phenotype (CTRCT13) MIM:116700

Disease | GeneticClinVar

14 pathogenic / likely-pathogenic of 188 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)
1.16
gnomAD pLI
0
gnomAD missense Z
-1.1
DepMap mean gene effect
0.05
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% 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 GCNT2 as an antibody target. Whether an autoantibody or antibody against GCNT2 could matter depends on whether native GCNT2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

GCNT2 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 GCNT2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/GCNT2. 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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