POGLUT2

gene
On this page

Also known as MGC5302EP58

Summary

POGLUT2 (protein O-glucosyltransferase 2, HGNC:19350) is a protein-coding gene on chromosome 13q33.1, encoding Protein O-glucosyltransferase 2 (Q6UW63). Protein glucosyltransferase that catalyzes the transfer of glucose from UDP-glucose to a serine residue within the consensus sequence peptide C-X-N-T-X-G-S-F-X-C.

This gene encodes a protein product localized to the lumen of the endoplasmic reticulum. As a member of the endoplasmic reticulum protein family the encoded protein contains a Lys-Asp-Glu-Leu or KDEL motif located at the extreme C-terminus which prevents all endoplasmic reticulum resident proteins from being secreted. Proteins carrying this motif are bound by a receptor in the Golgi apparatus so that the receptor-ligand complex returns to the endoplasmic reticulum. A processed non-transcribed pseudogene located in an intron of a sodium transporter gene on chromosome 5 has been defined for this gene. This gene has multiple transcript variants which are predicted to encode distinct isoforms.

Source: NCBI Gene 79070 — RefSeq curated summary.

At a glance

  • Clinical variants (ClinVar): 87 total
  • MANE Select transcript: NM_024089

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:19350
Approved symbolPOGLUT2
Nameprotein O-glucosyltransferase 2
Location13q33.1
Locus typegene with protein product
StatusApproved
AliasesMGC5302, EP58
Ensembl geneENSG00000134901
Ensembl biotypeprotein_coding
OMIM611613
Entrez79070

Gene structure

Transcript identifiers

Ensembl transcripts: 16 — 8 protein_coding, 4 retained_intron, 2 protein_coding_CDS_not_defined, 2 nonsense_mediated_decay

ENST00000376004, ENST00000460338, ENST00000484943, ENST00000486540, ENST00000706516, ENST00000706517, ENST00000706518, ENST00000706519, ENST00000706520, ENST00000706521, ENST00000706522, ENST00000884207, ENST00000884208, ENST00000933311, ENST00000933312, ENST00000957245

RefSeq mRNA: 2 — MANE Select: NM_024089 NM_001318732, NM_024089

CCDS: CCDS9504

Canonical transcript exons

ENST00000376004 — 10 exons

ExonStartEnd
ENSE00000686125102791258102791430
ENSE00001469134102798489102798976
ENSE00001832927102784281102784512
ENSE00003459379102787834102787923
ENSE00003563213102786232102786339
ENSE00003602958102789012102789221
ENSE00003637326102793601102793806
ENSE00003661664102790901102791138
ENSE00003678111102796804102797009
ENSE00003679201102793341102793418

Expression profiles

Bgee: expression breadth ubiquitous, 226 present calls, max score 86.86.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 9.5500 / max 82.4776, expressed in 1532 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter IDTPM avgSamples expressed
1381118.08691505
1381101.4631834

Top tissues by expression

268 total, by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
stromal cell of endometriumCL:000225586.86gold quality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047385.66gold quality
primordial germ cell in gonadCL:0000670 ∩ UBERON:000099185.29gold quality
cartilage tissueUBERON:000241883.71gold quality
secondary oocyteCL:000065583.69gold quality
smooth muscle tissueUBERON:000113582.97gold quality
tibiaUBERON:000097982.49gold quality
oocyteCL:000002382.45gold quality
ventricular zoneUBERON:000305382.02gold quality
periodontal ligamentUBERON:000826680.68gold quality
body of uterusUBERON:000985380.68gold quality
gall bladderUBERON:000211079.93gold quality
myometriumUBERON:000129679.92gold quality
ganglionic eminenceUBERON:000402379.45gold quality
endometriumUBERON:000129579.06gold quality
embryoUBERON:000092278.49gold quality
right ovaryUBERON:000211878.40gold quality
thoracic aortaUBERON:000151578.05gold quality
ascending aortaUBERON:000149678.03gold quality
pigmented layer of retinaUBERON:000178277.98gold quality
uterusUBERON:000099577.95gold quality
left coronary arteryUBERON:000162677.59gold quality
descending thoracic aortaUBERON:000234577.44gold quality
ovaryUBERON:000099277.01gold quality
calcaneal tendonUBERON:000370176.87gold quality
tendon of biceps brachiiUBERON:000818876.86silver quality
left ovaryUBERON:000211976.80gold quality
parietal pleuraUBERON:000240076.80gold quality
coronary arteryUBERON:000162176.56gold quality
endocervixUBERON:000045876.46gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

ExperimentMarker?Max mean expression
E-ANND-3yes3.97
E-MTAB-6911no233.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

32 targeting POGLUT2, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-200B-3P100.0073.312693
HSA-MIR-200C-3P100.0073.352685
HSA-MIR-429100.0073.442698
HSA-MIR-29A-3P100.0073.111835
HSA-MIR-29B-3P100.0073.181833
HSA-MIR-29C-3P100.0073.151833
HSA-MIR-340-5P100.0072.504437
HSA-MIR-3163100.0077.238605
HSA-MIR-4795-3P100.0074.624024
HSA-MIR-428299.9975.366408
HSA-MIR-548C-3P99.9974.017587
HSA-MIR-767-5P99.9570.85993
HSA-MIR-3912-5P99.9566.11925
HSA-MIR-4778-3P99.9370.401818
HSA-MIR-3663-3P99.8470.39798
HSA-MIR-576-5P99.8470.462582
HSA-MIR-4659A-3P99.8072.624248
HSA-MIR-4659B-3P99.8072.624248
HSA-MIR-1212999.7267.451311
HSA-MIR-580-3P99.6769.231841
HSA-MIR-548AV-5P99.6070.842107
HSA-MIR-548K99.6070.842107
HSA-MIR-217-5P99.4969.931419
HSA-MIR-805499.4870.812084
HSA-MIR-377-3P99.3770.181905
HSA-MIR-6807-3P99.1569.231275
HSA-MIR-470599.1069.101091
HSA-MIR-876-3P98.7668.23945
HSA-MIR-6501-3P98.7167.451480
HSA-MIR-509-3-5P97.2167.741517

Literature-anchored findings (GeneRIF, showing 3)

  • This paper reports data on mouse Kdelc1 (PMID:11167020)
  • Our results suggest that GA733-2-Fc conjugated to ER-retention motif KDEL is a more efficient antigen to prevent tumor growth induced by colorectal carcinoma and minimize an allergic response. (PMID:30249898)
  • POGLUT2 and POGLUT3 O-glucosylate multiple EGF repeats in fibrillin-1, -2, and LTBP1 and promote secretion of fibrillin-1. (PMID:34411563)

Cross-species orthologs

3 orthologs

OrganismSymbolGene ID
danio_reriopoglut2ENSDARG00000031971
mus_musculusPoglut2ENSMUSG00000026047
rattus_norvegicusPoglut2ENSRNOG00000011740

Paralogs (2): POGLUT1 (ENSG00000163389), POGLUT3 (ENSG00000178202)

Protein

Protein identifiers

Protein O-glucosyltransferase 2Q6UW63 (reviewed: Q6UW63)

Alternative names: Endoplasmic reticulum resident protein 58, KDEL motif-containing protein 1, Protein O-xylosyltransferase POGLUT2

All UniProt accessions (5): A0A9L9PX85, A0A9L9PXK3, A0A9L9PXM5, A0A9L9PY35, Q6UW63

UniProt curated annotations — full annotation on UniProt →

Function. Protein glucosyltransferase that catalyzes the transfer of glucose from UDP-glucose to a serine residue within the consensus sequence peptide C-X-N-T-X-G-S-F-X-C. Can also catalyze the transfer of xylose from UDP-xylose but less efficiently. Specifically targets extracellular EGF repeats of proteins such as NOTCH1, NOTCH3, FBN1, FBN2 and LTBP1. May regulate the transport of NOTCH1 and NOTCH3 to the plasma membrane and thereby the Notch signaling pathway.

Subcellular location. Endoplasmic reticulum lumen.

Post-translational modifications. N-glycosylated.

Pathway. Protein modification; protein glycosylation.

Similarity. Belongs to the KDELC family.

RefSeq proteins (2): NP_001305661, NP_076994* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR001298Filamin/ABP280_rptRepeat
IPR006598CAP10Domain
IPR013783Ig-like_foldHomologous_superfamily
IPR014756Ig_E-setHomologous_superfamily
IPR017868Filamin/ABP280_rpt-likeRepeat
IPR051091O-Glucosyltr/Glycosyltrsf_90Family

Pfam: PF00630, PF05686

Catalyzed reactions (Rhea), 2 shown:

  • L-seryl-[EGF-like domain protein] + UDP-alpha-D-glucose = 3-O-(beta-D-glucosyl)-L-seryl-[EGF-like domain protein] + UDP + H(+) (RHEA:58116)
  • L-seryl-[EGF-like domain protein] + UDP-alpha-D-xylose = 3-O-(beta-D-xylosyl)-L-seryl-[EGF-like domain protein] + UDP + H(+) (RHEA:62016)

UniProt features (17 total): strand 7, glycosylation site 2, sequence conflict 2, signal peptide 1, chain 1, repeat 1, short sequence motif 1, sequence variant 1, turn 1

Structure

Experimental structures (PDB)

2 structures.

PDBMethodResolution (Å)
9W47X-RAY DIFFRACTION1.79
2DI7SOLUTION NMR

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q6UW63-F192.770.88

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Glycosylation sites (2): 302, 414

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 173 (showing top): TGGTGCT_MIR29A_MIR29B_MIR29C, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, MODULE_255, MODULE_317, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, MODULE_206, DODD_NASOPHARYNGEAL_CARCINOMA_UP, JAATINEN_HEMATOPOIETIC_STEM_CELL_UP, IVANOVA_HEMATOPOIESIS_EARLY_PROGENITOR, MILI_PSEUDOPODIA_CHEMOTAXIS_DN, GOBP_PROTEIN_O_LINKED_GLYCOSYLATION, GOBP_GLYCOPROTEIN_METABOLIC_PROCESS, GOCC_ENDOPLASMIC_RETICULUM_LUMEN, MODULE_69

GO Biological Process (3): protein O-linked glycosylation via glucose (GO:0180059), obsolete protein glycosylation (GO:0006486), obsolete protein O-linked glycosylation via serine (GO:0018242)

GO Molecular Function (8): UDP-glucosyltransferase activity (GO:0035251), UDP-xylosyltransferase activity (GO:0035252), glucosyltransferase activity (GO:0046527), EGF-domain serine glucosyltransferase activity (GO:0140561), EGF-domain serine xylosyltransferase activity (GO:0140562), protein binding (GO:0005515), transferase activity (GO:0016740), glycosyltransferase activity (GO:0016757)

GO Cellular Component (5): nucleoplasm (GO:0005654), endoplasmic reticulum lumen (GO:0005788), cytosol (GO:0005829), endomembrane system (GO:0012505), endoplasmic reticulum (GO:0005783)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
cellular anatomical structure3
UDP-glycosyltransferase activity2
cytoplasm2
protein O-linked glycosylation1
glucosyltransferase activity1
xylosyltransferase activity1
hexosyltransferase activity1
UDP-glucosyltransferase activity1
UDP-xylosyltransferase activity1
binding1
catalytic activity1
transferase activity1
nuclear lumen1
endoplasmic reticulum1
intracellular organelle lumen1
vacuole1
plasma membrane1
endomembrane system1
intracellular membrane-bounded organelle1

Protein interactions and networks

STRING

396 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
POGLUT2FLNAP21333808
POGLUT2POFUT1Q9H488643
POGLUT2GXYLT1Q4G148628
POGLUT2GXYLT2A0PJZ3607
POGLUT2XXYLT1Q8NBI6590
POGLUT2BIVMQ86UB2541
POGLUT2EOGTQ5NDL2520
POGLUT2EGFP01133472
POGLUT2POGLUT3Q7Z4H8394
POGLUT2NOTCH3Q9UM47355
POGLUT2ZNF607Q96SK3348
POGLUT2XYLT1Q86Y38313
POGLUT2ZC3H12CQ9C0D7301
POGLUT2COLGALT1Q8NBJ5300
POGLUT2DPY19L1Q2PZI1300
POGLUT2UNC5AQ6ZN44300

IntAct

66 interactions, top by confidence:

ABTypeScore
B3GNT3PGRMC1psi-mi:“MI:0914”(association)0.670
CALCOCO2TBKBP1psi-mi:“MI:0914”(association)0.640
BMP1TLL1psi-mi:“MI:0914”(association)0.530
PLOD2psi-mi:“MI:0914”(association)0.530
ELSPBP1PFDN1psi-mi:“MI:0914”(association)0.530
C1orf54EXTL3psi-mi:“MI:0914”(association)0.530
POGLUT2GOLGA4psi-mi:“MI:0915”(physical association)0.400
Ankrd28PPP6R3psi-mi:“MI:0914”(association)0.350
CUL2ANXA2P2psi-mi:“MI:0914”(association)0.350
CUL3PXDNLpsi-mi:“MI:0914”(association)0.350
TAZMANBApsi-mi:“MI:0914”(association)0.350
LOXL3MSI1psi-mi:“MI:0914”(association)0.350
MFAP4CRLF1psi-mi:“MI:0914”(association)0.350
PDGFRAGXYLT2psi-mi:“MI:0914”(association)0.350
SCGB2A2RTL8Cpsi-mi:“MI:0914”(association)0.350
TAFAZZINMANBApsi-mi:“MI:0914”(association)0.350
TRAV20MAP2K7psi-mi:“MI:0914”(association)0.350
LCN6COCHpsi-mi:“MI:0914”(association)0.350
POGLUT2HSPA5psi-mi:“MI:0914”(association)0.350
ITGB8TARS3psi-mi:“MI:0914”(association)0.350
TMEM106ATMEM131Lpsi-mi:“MI:0914”(association)0.350
BRICD5TMEM131Lpsi-mi:“MI:0914”(association)0.350
LY86TMEM131Lpsi-mi:“MI:0914”(association)0.350
PTCH1TMEM131Lpsi-mi:“MI:0914”(association)0.350
GMLPOTEFpsi-mi:“MI:0914”(association)0.350
IL5RAPOTEFpsi-mi:“MI:0914”(association)0.350
LCN6POTEFpsi-mi:“MI:0914”(association)0.350
LYPD4POTEFpsi-mi:“MI:0914”(association)0.350

BioGRID (85): KDELC1 (Affinity Capture-MS), KDELC1 (Affinity Capture-MS), KDELC1 (Synthetic Lethality), KDELC1 (Affinity Capture-MS), KDELC1 (Affinity Capture-MS), KDELC1 (Affinity Capture-MS), KDELC1 (Affinity Capture-MS), KDELC1 (Affinity Capture-MS), KDELC1 (Affinity Capture-MS), KDELC1 (Protein-RNA), KDELC1 (Proximity Label-MS), KDELC1 (Proximity Label-MS), KDELC1 (Affinity Capture-MS), KDELC1 (Proximity Label-MS), KDELC1 (Proximity Label-MS)

ESM2 similar proteins: A4IID1, A5D7I4, A9X1C8, O77836, O95461, O95803, P38649, P97464, Q13822, Q16394, Q4R854, Q5F407, Q5IGR8, Q5M854, Q5RBC3, Q5REP8, Q5U4X8, Q659X0, Q66PG2, Q66PG3, Q6EV76, Q6EV77, Q6GMK0, Q6GQI7, Q6GQK9, Q6IS24, Q6KFX9, Q6UW63, Q7TT15, Q812F8, Q812G0, Q86X52, Q8BJQ9, Q8HY56, Q8HYB2, Q8IYK4, Q8N6G5, Q8SPR2, Q8TDX6, Q9BYC5

Diamond homologs: A0NDG6, B0X1Q4, G3V9D0, G5E897, Q16QY8, Q29AU6, Q566E5, Q5E9Q1, Q6UW63, Q7Z4H8, Q7ZVE6, Q8BYB9, Q8NBL1, Q8T045, Q9JHP7, Q5K8R6

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 89 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

PathwayPartnersFoldFDR
Metabolism of carbohydrates and carbohydrate derivatives510.5×9e-03
Neutrophil degranulation124.9×6e-04

GO biological processes:

GO termPartnersFoldFDR
collagen fibril organization616.4×1e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

87 variants total. Per-class counts are floors (≥ shown; pagination cap):

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance74
Likely benign2
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1785 predictions. Top by Δscore:

VariantEffectΔscore
13:102789007:CTTA:Cdonor_loss1.0000
13:102789008:TTAC:Tdonor_loss1.0000
13:102789009:TA:Tdonor_loss1.0000
13:102789010:A:Cdonor_loss1.0000
13:102789011:C:CGdonor_loss1.0000
13:102789220:TG:Tacceptor_gain1.0000
13:102791250:T:Cdonor_gain1.0000
13:102791426:TTCAC:Tacceptor_gain1.0000
13:102791428:CAC:Cacceptor_gain1.0000
13:102791429:ACC:Aacceptor_loss1.0000
13:102791431:C:CCacceptor_gain1.0000
13:102791431:CTAG:Cacceptor_loss1.0000
13:102791432:T:Aacceptor_loss1.0000
13:102793335:ACTT:Adonor_loss1.0000
13:102793336:CTTA:Cdonor_loss1.0000
13:102793337:TTA:Tdonor_loss1.0000
13:102793338:TA:Tdonor_loss1.0000
13:102793340:C:CTdonor_loss1.0000
13:102793595:TTGTA:Tdonor_loss1.0000
13:102793596:TGTA:Tdonor_loss1.0000
13:102793597:GTAC:Gdonor_loss1.0000
13:102793598:TACC:Tdonor_loss1.0000
13:102793599:ACC:Adonor_loss1.0000
13:102793600:C:CTdonor_loss1.0000
13:102793802:CGGCC:Cacceptor_gain1.0000
13:102793803:GGCC:Gacceptor_gain1.0000
13:102793804:GCC:Gacceptor_gain1.0000
13:102793805:CC:Cacceptor_gain1.0000
13:102793805:CCC:Cacceptor_gain1.0000
13:102793805:CCCTA:Cacceptor_loss1.0000

AlphaMissense

3350 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
13:102791065:A:GW307R1.000
13:102791065:A:TW307R1.000
13:102791390:T:AD238V1.000
13:102793383:A:CF210L1.000
13:102793383:A:TF210L1.000
13:102793385:A:GF210L1.000
13:102791048:G:CS312R0.999
13:102791048:G:TS312R0.999
13:102791050:T:GS312R0.999
13:102791053:C:GD311H0.999
13:102791055:C:GR310P0.999
13:102791058:C:TG309E0.999
13:102791059:C:AG309W0.999
13:102791059:C:GG309R0.999
13:102791059:C:TG309R0.999
13:102791313:C:GD264H0.999
13:102791332:A:CC257W0.999
13:102791337:A:GW256R0.999
13:102791337:A:TW256R0.999
13:102791389:G:CD238E0.999
13:102791389:G:TD238E0.999
13:102791390:T:CD238G0.999
13:102791390:T:GD238A0.999
13:102791391:C:GD238H0.999
13:102791398:A:CN235K0.999
13:102791398:A:TN235K0.999
13:102793374:G:CF213L0.999
13:102793374:G:TF213L0.999
13:102793376:A:GF213L0.999
13:102793384:A:CF210C0.999

dbSNP variants (sampled 300 via entrez): RS1000152944 (13:102797996 A>G), RS1000173440 (13:102800346 G>C), RS1000289572 (13:102800108 G>A), RS1000801366 (13:102786981 T>C), RS1000926456 (13:102792983 C>G), RS1001233756 (13:102786667 A>C,T), RS1001249005 (13:102786057 C>T), RS1001295254 (13:102798873 G>C), RS1001301370 (13:102785826 A>G), RS1001561098 (13:102799146 T>A), RS1001671953 (13:102786075 T>C), RS1001791115 (13:102792599 A>G), RS1002274119 (13:102787302 C>T), RS1002299502 (13:102797753 A>C,T), RS1002306712 (13:102787039 T>C,G)

Disease associations

OMIM: gene MIM:611613 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

36 total (human), top 30 by PubMed support.

ChemicalActions (top 5)PubMed papers
Valproic Acidaffects expression, increases expression4
bisphenol Adecreases expression, affects cotreatment, increases expression2
sodium arsenitedecreases expression2
Tetrachlorodibenzodioxindecreases expression2
Cadmium Chloridedecreases expression2
bisphenol Faffects cotreatment, increases expression1
dicrotophosdecreases expression1
kojic acidincreases expression1
tris(1,3-dichloro-2-propyl)phosphatedecreases expression1
nickel sulfatedecreases expression1
perfluorooctane sulfonic aciddecreases expression1
abrinedecreases expression1
NSC 689534affects binding, decreases expression1
Zoledronic Aciddecreases expression1
Acetaminophenincreases expression1
Air Pollutantsincreases abundance, decreases expression1
Arbutinincreases expression1
Copperaffects binding, decreases expression1
Dexamethasoneaffects cotreatment, increases expression1
Diazinonincreases methylation1
Dimethyl Sulfoxideincreases expression1
Doxorubicinaffects expression1
Indomethacinaffects cotreatment, increases expression1
Ironincreases expression1
Ivermectindecreases expression1
Quercetindecreases expression1
Urethaneincreases expression1
1-Methyl-3-isobutylxanthineaffects cotreatment, increases expression1
Cyclosporinedecreases expression1
Aflatoxin B1decreases methylation1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.

No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.