Seroatlas · Human Serome Atlas

GALNT2

Polypeptide N-acetylgalactosaminyltransferase 2

Also known as: GalNAc-T2, GALT2_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q10471
Gene: GALNT2
Ensembl: ENSG00000143641
Chromosome: 1
Canonical length: 571 aa
Protein class: Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma 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 2 protein family. Members of this family initiate mucin-type O-glycoslation of peptides in the Golgi apparatus. The encoded protein may be involved in O-linked glycosylation of the immunoglobulin A1 hinge region. This gene may influence triglyceride levels, and may be involved Type 2 diabetes, as well as several types of cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]

Canonical amino-acid sequenceUniProt

571 residues, UniProt reviewed canonical sequence.

>Q10471|GALNT2
     1  MRRRSRMLLC FAFLWVLGIA YYMYSGGGSA LAGGAGGGAG RKEDWNEIDP IKKKDLHHSN
    61  GEEKAQSMET LPPGKVRWPD FNQEAYVGGT MVRSGQDPYA RNKFNQVESD KLRMDRAIPD
   121  TRHDQCQRKQ WRVDLPATSV VITFHNEARS ALLRTVVSVL KKSPPHLIKE IILVDDYSND
   181  PEDGALLGKI EKVRVLRNDR REGLMRSRVR GADAAQAKVL TFLDSHCECN EHWLEPLLER
   241  VAEDRTRVVS PIIDVINMDN FQYVGASADL KGGFDWNLVF KWDYMTPEQR RSRQGNPVAP
   301  IKTPMIAGGL FVMDKFYFEE LGKYDMMMDV WGGENLEISF RVWQCGGSLE IIPCSRVGHV
   361  FRKQHPYTFP GGSGTVFARN TRRAAEVWMD EYKNFYYAAV PSARNVPYGN IQSRLELRKK
   421  LSCKPFKWYL ENVYPELRVP DHQDIAFGAL QQGTNCLDTL GHFADGVVGV YECHNAGGNQ
   481  EWALTKEKSV KHMDLCLTVV DRAPGSLIKL QGCRENDSRQ KWEQIEGNSK LRHVGSNLCL
   541  DSRTAKSGGL SVEVCGPALS QQWKFTLNLQ Q

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GALNT2 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: Secreted
Secreted: Yes
Transmembrane segments: 1
Mean surface accessibility (rSASA): 0.28
Highest tissue expression: 93 nTPM

Expression across tissuesHPA

Tissue

liver: 93 nTPM
blood vessel: 88 nTPM
pancreas: 65 nTPM
skeletal muscle: 64 nTPM
adrenal gland: 47 nTPM
thymus: 40 nTPM

Single-cell type

pancreatic acinar cells: 623 nCPM
microglia: 479 nCPM
plasma cells: 350 nCPM
schwann cells: 342 nCPM
rod photoreceptor cells: 311 nCPM
myonuclei: 301 nCPM

Immune cell

plasmacytoid DC: 13 nTPM
classical monocyte: 11 nTPM
non-classical monocyte: 10 nTPM
intermediate monocyte: 9.3 nTPM
myeloid DC: 7.8 nTPM
total PBMC: 7.7 nTPM

Brain region

hypothalamus: 53 nTPM
medulla oblongata: 49 nTPM
thalamus: 49 nTPM
choroid plexus: 46 nTPM
midbrain: 42 nTPM
cerebral cortex: 41 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about GALNT2.

Disease | AllUniProt

Conditions GALNT2 is implicated in, by any mechanism.

Congenital disorder of glycosylation 2T (CDG2T) MIM:618885

Disease | GeneticClinVar

8 pathogenic / likely-pathogenic of 225 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Congenital disorder of glycosylation, type iit

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): 0.49
gnomAD pLI: 0.01
gnomAD missense Z: 2
DepMap mean gene effect: -0.04
DepMap dependency class: selective

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

InteractionsUniProt · HPA

Protein binding partners of GALNT2 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 GALNT2 as an antibody target. Whether an autoantibody or antibody against GALNT2 could matter depends on whether native GALNT2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

GALNT2 is annotated as secreted, so native GALNT2 circulates and is directly accessible to antibodies. Secreted and cell-surface proteins are the autoantibody targets most likely to act like drugs, blocking or depleting the native protein.

Annotation status

The present source text does not explicitly label GALNT2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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